Affinage

ANK1

Ankyrin-1 · UniProt P16157

Length
1881 aa
Mass
206.3 kDa
Annotated
2026-06-09
69 papers in source corpus 16 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ANK1 (ankyrin-1) is a membrane-adaptor protein that maintains erythrocyte membrane integrity by anchoring the band 3 anion exchanger (AE1/SLC4A1) to the spectrin cytoskeleton (PMID:7798219, PMID:31016877). High-affinity binding to AE1 requires the NH2-terminal 79 amino acids of AE1, which are absent from the kidney isoform that fails to bind ANK1 (PMID:7798219). Functionally, ANK1 acts through distinct membrane- and spectrin-binding domains versus a C-terminal regulatory domain: truncating mutations that retain the membrane/spectrin-binding modules produce milder phenotypes, whereas those eliminating the spectrin-binding domain phenocopy severe hemolytic disease (PMID:14671619, PMID:21193012). A broad spectrum of loss-of-function lesions — frameshift, nonsense, missense, and splice-site variants — converge on the same mechanism: reduced ANK1 protein stability, failed plasma-membrane localization, and weakened interaction with SPTB and SLC4A1, producing spheroidized, osmotically fragile red cells; this defines ANK1 as a cause of hereditary spherocytosis (PMID:31016877, PMID:36336297, PMID:41920036). ANK1 promoter activity depends on TATA-binding protein/TFIID engagement at a critical cis-element, and a promoter dinucleotide deletion disrupting this binding causes ankyrin-deficient spherocytosis (PMID:20479128). Beyond erythrocytes, the muscle-specific Ank1.5 isoform localizes to the sarcoplasmic reticulum and interacts with obscurin during early myofibril assembly (PMID:19002483). ANK1 transcription is epigenetically silenced through coordinated promoter CpG hypermethylation and reduced H3K4me3, observed in Alzheimer's disease cortex, and this same promoter methylation co-represses the intragenic miR-486-5p (PMID:28965852, PMID:33815817). In non-erythroid disease contexts ANK1 acts as a tumor suppressor that promotes ferroptosis in osteosarcoma (PMID:39217322).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 1994 High

    Defined the molecular determinant of the ANK1–band 3 interaction, establishing how ANK1 selectively tethers erythroid AE1 to the membrane skeleton.

    Evidence Cell-free binding assays with a radiolabeled ANK1 fragment against full-length erythroid AE1, kidney AE1, and an ankyrin-binding-domain-deletion mutant

    PMID:7798219

    Open questions at the time
    • Did not resolve the structural basis of the dual high/low affinity binding modes
    • Binding measured in vitro; not validated in intact cells
  2. 1993 Medium

    Showed that compensatory ankyrin-related proteins partially stabilize ANK1-deficient erythrocytes, addressing why nb/nb mice survive a profound ankyrin defect.

    Evidence Western and Northern blot of fetal and adult reticulocytes from nb/nb and wild-type mice

    PMID:8471772

    Open questions at the time
    • Identity and functional sufficiency of the compensatory ANK2-related protein not established
    • Mechanism of developmental upregulation unknown
  3. 2003 Medium

    Linked a specific frameshift to a truncated ankyrin retaining membrane- and spectrin-binding domains, explaining the mild nb phenotype through preserved partial function.

    Evidence Sequencing of the Ank1 locus and domain-specific epitope-scanning immunoblots in nb mice

    PMID:14671619

    Open questions at the time
    • Residual binding activity of the truncated protein not quantified
    • Role of the lost C-terminal regulatory domain not directly tested
  4. 2008 Medium

    Extended ANK1 function beyond erythrocytes by placing the Ank1.5 muscle isoform at the SR membrane in complex with obscurin during early myofibrillogenesis.

    Evidence Developmental immunofluorescence with N- and C-terminal epitope-specific antibodies in embryonic and postnatal rodent skeletal muscle

    PMID:19002483

    Open questions at the time
    • Interaction inferred from co-localization, not co-IP or rescue
    • Functional consequence of the obscurin–ank1.5 interaction not demonstrated
  5. 2010 High

    Established the transcriptional control of ANK1 by identifying a promoter cis-element whose mutation disrupts TBP/TFIID binding and causes ankyrin-deficient spherocytosis.

    Evidence Cell-free transcription, transient transfection, transgenic mouse assays, and a degenerate promoter library screen

    PMID:20479128

    Open questions at the time
    • Other regulatory elements governing tissue-specific ANK1 expression not mapped
  6. 2010 High

    Defined the domain requirements for ANK1 function in vivo, showing loss of the spectrin-binding domain produces severe disease.

    Evidence ENU-generated nonsense mutation, domain-specific immunoblot, and hematologic phenotyping in mice

    PMID:21193012

    Open questions at the time
    • Quantitative contribution of spectrin- versus band 3-binding loss not separated
  7. 2019 Medium

    Unified the pathogenic mechanism of diverse HS mutations as combined loss of protein stability, membrane targeting, and partner binding.

    Evidence Cell-based osmotic fragility, protein stability, localization, and SPTB/SLC4A1 interaction assays for four mutations

    PMID:31016877

    Open questions at the time
    • Relative weighting of each defect per mutation not resolved
    • Single-lab cell-based assays
  8. 2017 Medium

    Connected ANK1 promoter methylation to co-regulation of the intragenic miR-486-5p, broadening ANK1's regulatory footprint into cancer epigenetics.

    Evidence siRNA knockdown, 5-aza-2'-deoxycytidine treatment, bisulfite sequencing, and qRT-PCR in NSCLC cells and lung tumors

    PMID:28965852

    Open questions at the time
    • Direct mechanism by which ANK1 knockdown lowers miR-486-5p not established
    • Functional role of the co-regulation in tumorigenesis untested
  9. 2021 Medium

    Demonstrated that ANK1 silencing in Alzheimer's disease cortex involves a coordinated chromatin signature of DNA hypermethylation and reduced active histone marks.

    Evidence ChIP-qPCR for H3K4me3 and H3K27me3 in human post-mortem entorhinal cortex correlated with DNA methylation

    PMID:33815817

    Open questions at the time
    • Causal direction between methylation and H3K4me3 loss not resolved
    • Functional consequence of ANK1 loss in neurons not addressed
  10. 2022 Medium

    Validated splice-site variants as a mechanism of HS by linking aberrant splicing to abnormal ANK1 localization and red cell spheroidization.

    Evidence Minigene splicing analysis, structure prediction, and subcellular localization of mutant ANK1

    PMID:36336297

    Open questions at the time
    • Structural prediction not experimentally confirmed
    • Single variant tested
  11. 2023 Medium

    Confirmed intronic splice-donor variants disrupt ANK1 pre-mRNA processing, extending the mutational spectrum of HS.

    Evidence Minigene reporter assays in HEK293T cells with high-throughput and Sanger sequencing for two variants

    PMID:36647015

    Open questions at the time
    • Protein-level consequence not directly measured
    • Patient erythrocyte phenotype not assessed in this study
  12. 2024 Medium

    Further mapped functional splice acceptor sites and loss-of-function variants causing reduced ANK1 expression and weakened cytoskeletal interactions in HS.

    Evidence Minigene splicing assays, RT-PCR, and in vitro expression/interaction studies for multiple novel variants

    PMID:38655052 PMID:40457051 PMID:41920036

    Open questions at the time
    • Variant-specific interaction defects not quantified in [#11]
    • Some functional methods incompletely detailed
  13. 2024 Medium

    Revealed a non-erythroid tumor-suppressor role for ANK1 acting through promotion of ferroptosis.

    Evidence Overexpression with ferrostatin-1 rescue in osteosarcoma cell lines and an in vivo mouse tumor model with IHC and TUNEL

    PMID:39217322

    Open questions at the time
    • Molecular link between ANK1 and the ferroptosis machinery unidentified
    • Whether this reflects a membrane-adaptor function unknown
  14. 2025 Medium

    Indicated a developmental requirement for ANK1 in early pancreatic and skeletal muscle lineage differentiation.

    Evidence CRISPR knockout of the NKX6-3/ANK1 cluster in hiPSCs with haplotype reintroduction and directed differentiation (preprint)

    PMID:41509304

    Open questions at the time
    • Preprint, not peer-reviewed
    • Mechanism by which ANK1 supports differentiation undefined
    • Possible contribution of neighboring NKX6-3 not fully excluded

Open questions

Synthesis pass · forward-looking unresolved questions
  • The molecular mechanisms linking ANK1 to ferroptosis, neuronal dysfunction in Alzheimer's disease, and lineage differentiation remain undefined, as does whether these reflect its erythroid membrane-adaptor activity or distinct functions.
  • No effector pathway connecting ANK1 to ferroptosis identified
  • Neuronal substrate or partner of ANK1 unknown
  • No structural model of the spectrin/band 3 ternary complex in the corpus

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 3 GO:0060090 molecular adaptor activity 2
Localization
GO:0005886 plasma membrane 2 GO:0005783 endoplasmic reticulum 1
Pathway
GO:0005856 cytoskeleton 2 R-HSA-5357801 Programmed Cell Death 1
Partners
OBSCNSLC4A1SPTB
Complex memberships
erythrocyte membrane skeleton

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1994 The kidney isoform of AE1 (kAE1), which lacks the NH2-terminal 79 amino acids of erythroid AE1, does not bind ANK1 (Ank1) with high affinity in vitro. Cell-free binding assays using an Ank1 fragment (R13-H) containing the AE1-binding site showed high-affinity (Kd=12.5 nM) and low-affinity (Kd=166 nM) binding to full-length erythroid AE1, but no high-affinity binding to kAE1 or to a mutant AE1 lacking the ~400 aa NH2-terminal cytoplasmic ankyrin-binding domain. This established that the NH2-terminal 79 amino acids of AE1 are essential for high-affinity specific binding to ANK1. Cell-free binding assay with radiolabeled ANK1 fragment (125I-R13-H) and microsomes from cells transfected with full-length AE1, kAE1, or mutant AE1 lacking the ankyrin-binding domain The Journal of biological chemistry High 7798219
2003 The normoblastosis (Ank1nb) mutation is a deletion of a guanosine in exon 36 of Ank1, causing a frameshift that introduces a stop codon 13 codons downstream, predicting a 157 kDa truncated nb-ankyrin that lacks the C-terminal regulatory domain but retains intact membrane- and spectrin-binding domains. Epitope scanning on immunoblots confirmed that a previously reported p150 protein in nb reticulocytes is this predicted nb-ankyrin. The retained functionality of this truncated protein explains the milder phenotype in nb/nb mice compared to spectrin-deficient anemias. Sequencing of the Ank1 locus to identify the mutation; immunoblot with domain-specific antibodies (epitope scanning) to characterize the truncated protein The hematology journal Medium 14671619
2008 Ank1.5, a muscle-specific isoform of ankyrin-1, is localized on the sarcoplasmic reticulum (SR) membrane and interacts with obscurin, a sarcomeric protein. In embryonic skeletal muscle, ank1.5 localizes at Z-disks before SERCA and RyR are organized, making it one of the earliest SR proteins to assemble. Postnatally, ank1.5 shifts to both M-bands and Z-disks, coinciding with changes in obscurin localization, suggesting that the obscurin–ank1.5 interaction is regulated by developmental reorganization of obscurin at different sarcomeric locations. Immunofluorescence microscopy with epitope-specific antibodies against N- and C-termini of obscurin and ank1.5 in embryonic and postnatal rodent skeletal muscles Histochemistry and cell biology Medium 19002483
2010 A novel ENU-generated nonsense mutation in exon 27 of mouse Ank1 (Ank1E924X) produces a truncated ankyrin-1 protein that lacks both the spectrin-binding domain and the C-terminal regulatory domain. Domain-specific antibodies confirmed the presence of the truncated protein and the absence of these domains in red blood cell ghosts from homozygous mice, which phenocopy severe hemolytic hereditary spherocytosis. ENU mutagenesis, gene mapping, in-frame nonsense mutation identification; Western blotting with domain-specific N-terminal and C-terminal antibodies; hematopoietic, biochemical, and cell biology assays Experimental hematology High 21193012
2010 A dinucleotide deletion in the human ANK1 (ANK-1) promoter disrupts binding of TATA-binding protein (TBP) and TFIID (components of the preinitiation complex), causing decreased ANK-1 promoter function both in vitro and in vivo and resulting in ankyrin-deficient hereditary spherocytosis. A functional consensus motif surrounding this mutation was identified by generating a library of >16,000 degenerate ANK-1 promoters and selecting functional sequences by cell-free transcription. Cell-free transcription assay, transient transfection, transgenic mouse assay; degenerate promoter library screen; TBP/TFIID binding disruption demonstrated by mutation Molecular and cellular biology High 20479128
2019 Four ANK1 mutations (two novel: p.R281X and p.L97R; two previously reported: p.Y216X and p.E142X) were functionally characterized in vitro. All four mutations increased osmotic fragility of cells, reduced stability of ANK1 proteins, prevented ANK1 from localizing to the plasma membrane, and impaired interaction with SPTB and SLC4A1 (band 3), establishing their pathogenicity for hereditary spherocytosis. In vitro cell-based functional assays: osmotic fragility test, protein stability assessment, subcellular localization (plasma membrane targeting), and co-immunoprecipitation/interaction assays with SPTB and SLC4A1 Journal of cellular and molecular medicine Medium 31016877
2017 In vitro knockdown of ANK1 in non-small cell lung cancer cells also reduced expression of the intragenic microRNA miR-486-5p, and treatment with the DNA methylation inhibitor 5-aza-2'-deoxycytidine induced expression of both ANK1 and miR-486-5p. ANK1 promoter CpG island methylation is strongly correlated with reduced ANK1 and miR-486-5p expression in lung tumors, establishing epigenetic co-regulation of ANK1 and miR-486-5p via promoter methylation. siRNA-mediated ANK1 knockdown in NSCLC cells; 5-aza-2'-deoxycytidine treatment; bisulfite methylation sequencing; expression analysis by qRT-PCR Cancer letters Medium 28965852
2021 Chromatin immunoprecipitation-qPCR in Alzheimer's disease entorhinal cortex showed decreased H3K4me3 (marker of active transcription) at the ANK1 locus, with no change in H3K27me3. H3K4me3 levels were negatively correlated with ANK1 DNA methylation in specific regions, indicating that ANK1 transcriptional repression in AD involves coordinated DNA hypermethylation and reduced active histone marks. Chromatin immunoprecipitation (ChIP)-qPCR for H3K4me3 and H3K27me3 in human post-mortem entorhinal cortex (n=59 high AD pathology, n=29 low AD pathology) Future science OA Medium 33815817
2022 A novel ANK1 splicing mutation (c.4391-2 A>C) was confirmed by minigene analysis to produce a mutant protein (p.N1463Kfs*4) with altered 3D structure and abnormal subcellular localization compared to wild-type ANK1. This disrupted normal cell membrane structure and resulted in spheroidized red blood cells, establishing the functional consequence of aberrant localization for ANK1-dependent RBC membrane integrity. Whole-exome sequencing, Sanger sequencing, bioinformatics 3D structure prediction, experimental subcellular localization analysis, cDNA amplification to detect aberrant transcripts Biochimica et biophysica acta. Molecular basis of disease Medium 36336297
2024 A novel ANK1 intronic variant c.1504-9G>A causes retention of seven nucleotides at the 5' end of intron 13, as demonstrated by minigene splicing assay, resulting in a premature stop codon and truncated ANK1 protein. In vitro studies confirmed reduced ANK1 gene expression, establishing c.1504-9 as a functional splicing receptor site. Whole-exome sequencing; Minigene splicing assay (in vitro); RT-PCR and sequencing to detect aberrant transcript; in vitro expression studies Frontiers in genetics Medium 38655052
2023 Two novel de novo ANK1 intronic variants (c.1305+2T>A and c.1305+2del) cause abnormal pre-mRNA splicing, as demonstrated by minigene reporter assays in HEK293T cells. The c.1305+2T>A variant produced two aberrant transcripts with cryptic intronic sequence insertions; the c.1305+2del variant produced two similar aberrant transcripts, establishing the functional consequence of these splice-site mutations. Minigene splicing assay in HEK293T cells; high-throughput sequencing and Sanger sequencing; in silico prediction BMC pediatrics Medium 36647015
2024 Three novel ANK1 loss-of-function variants (c.558delG/p.R187Afs*66, c.728T>G/p.L243R, c.3157C>T/p.R1053X) were shown by functional studies to disrupt ankyrin-1 synthesis and weaken its interaction with other red blood cell cytoskeleton proteins, establishing that these variants cause HS through loss of ankyrin-1 function and impaired protein–protein interactions in the erythrocyte membrane skeleton. In silico analysis; in vitro functional studies of protein synthesis and protein-protein interaction Annals of hematology Low 40457051
2024 ANK1 overexpression in osteosarcoma cells inhibited proliferation, migration, and invasion, and promoted ferroptosis. Treatment with ferroptosis inhibitor ferrostatin-1 (fer-1) reversed these effects, placing ANK1 upstream of the ferroptosis pathway in osteosarcoma. In vivo, ANK1 overexpression suppressed tumor growth, promoted apoptosis, and reduced Ki67-positive cells while elevating caspase-3-positive cells. CCK-8, wound healing, and transwell assays in U-2OS and MG-63 cells; ferroptosis inhibitor rescue experiment; OS mouse model with histology, IHC (Ki67, caspase-3), and TUNEL staining BMC cancer Medium 39217322
2025 Deletion of the NKX6-3/ANK1 gene cluster in human iPSCs blocked pancreatic progenitor and skeletal muscle differentiation. Reintroduction of ANK1-containing haplotypes restored these differentiation capabilities. ANK1 expression was elevated in ANK1 Risk and All-Risk haplotypes compared to NKX6-3 Risk and Non-Risk haplotypes, suggesting ANK1 is required for early pancreatic and skeletal muscle development. CRISPR-based gene cluster knockout in hiPSCs; synthetic haplotype delivery (vSwAP-In); in vitro differentiation to pancreatic progenitors and skeletal muscle; gene expression analysis bioRxivpreprint Medium 41509304
2024 Rare heterozygous ANK1 variants in hereditary spherocytosis patients were associated with reduced ANK1 protein expression, abnormal erythrocyte morphology, and increased hypotonic hemolysis, as demonstrated by functional analyses of patient erythrocytes. These findings indicate that ANK1 variants compromise erythrocyte membrane integrity via loss of ANK1 function. Flow cytometry for ANK1 protein expression; erythrocyte morphology analysis; hypotonic hemolysis assay; whole-exome sequencing; Sanger sequencing Arthritis & rheumatology Medium 41920036
1993 In nb/nb mice with Ank1 deficiency, an ANK1-related protein (165 kDa) was detected in fetal reticulocytes and persisted in adult nb/nb reticulocytes, accompanied by an Ank1-related 5.5 kb transcript upregulated in adult nb/nb but not wild-type reticulocytes. A fetal-specific ANK2-related protein (155 kDa) was also identified in fetal reticulocytes of both nb/nb and wild-type mice but not in adult reticulocytes, suggesting compensatory ankyrin-related proteins stabilize nb/nb erythrocytes. Western blot and Northern blot analysis of hematopoietic cells from nb/nb and wild-type fetal and adult mice Blood Medium 8471772

Source papers

Stage 0 corpus · 69 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2014 Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci. Nature neuroscience 743 25129075
2014 Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease. Nature neuroscience 444 25129077
2016 Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. Clinical genetics 76 26830532
2018 A cross-brain regions study of ANK1 DNA methylation in different neurodegenerative diseases. Neurobiology of aging 59 30439595
2013 Type 2 diabetes risk alleles near BCAR1 and in ANK1 associate with decreased β-cell function whereas risk alleles near ANKRD55 and GRB14 associate with decreased insulin sensitivity in the Danish Inter99 cohort. The Journal of clinical endocrinology and metabolism 52 23457408
1994 The major kidney AE1 isoform does not bind ankyrin (Ank1) in vitro. An essential role for the 79 NH2-terminal amino acid residues of band 3. The Journal of biological chemistry 46 7798219
2002 The alpha-helical D1 domain of the tobacco bZIP transcription factor BZI-1 interacts with the ankyrin-repeat protein ANK1 and is important for BZI-1 function, both in auxin signaling and pathogen response. The Journal of biological chemistry 39 12499372
1991 Dinucleotide repeat polymorphism at the human ankyrin gene (ANK1). Nucleic acids research 36 1826765
2017 ANK1 is up-regulated in laser captured microglia in Alzheimer's brain; the importance of addressing cellular heterogeneity. PloS one 34 28700589
2017 ANK1 Methylation regulates expression of MicroRNA-486-5p and discriminates lung tumors by histology and smoking status. Cancer letters 34 28965852
2008 Bacterial sulfite dehydrogenases in organotrophic metabolism: separation and identification in Cupriavidus necator H16 and in Delftia acidovorans SPH-1. Microbiology (Reading, England) 28 18174144
1998 High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis. The Journal of pediatrics 27 9470011
1996 Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis. British journal of haematology 24 8703812
2010 A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis. Experimental hematology 23 21193012
1997 Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio. British journal of haematology 23 9054656
2021 The histone modification H3K4me3 is altered at the ANK1 locus in Alzheimer's disease brain. Future science OA 20 33815817
2008 Localization of ank1.5 in the sarcoplasmic reticulum precedes that of SERCA and RyR: relationship with the organization of obscurin in developing sarcomeres. Histochemistry and cell biology 19 19002483
1993 Distinct fetal Ank-1 and Ank-2 related proteins and mRNAs in normal and nb/nb mice. Blood 17 8471772
2009 Nuclear accumulation of the ankyrin repeat protein ANK1 enhances the auxin-mediated transcription accomplished by the bZIP transcription factors BZI-1 and BZI-2. The Plant journal : for cell and molecular biology 16 19220790
2017 ANK1 and DnaK-TPR, Two Tetratricopeptide Repeat-Containing Proteins Primarily Expressed in Toxoplasma Bradyzoites, Do Not Contribute to Bradyzoite Differentiation. Frontiers in microbiology 15 29180989
2012 A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features. Gene 15 22771917
2003 Normoblastosis, a murine model for ankyrin-deficient hemolytic anemia, is caused by a hypomorphic mutation in the erythroid ankyrin gene Ank1. The hematology journal : the official journal of the European Haematology Association 14 14671619
2015 Association of Single-Nucleotide Polymorphism in ANK1 with Late-Onset Alzheimer's Disease in Han Chinese. Molecular neurobiology 13 26611832
2019 Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis. Journal of cellular and molecular medicine 12 31016877
1997 Apparently normal ankyrin content in unsplenectomized hereditary spherocytosis patients with the inactivation of one ankyrin (ANK1) allele. Haematologica 12 9234582
2017 Association of ANK1 variants with new-onset type 2 diabetes in a Han Chinese population from northeast China. Experimental and therapeutic medicine 11 28912869
2015 Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis. PloS one 11 26107955
2017 Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS. Oncotarget 10 29228571
1993 Close linkage of the gene for Werner's syndrome to ANK1 and D8S87 on the short arm of chromosome 8. Gerontology 9 8365666
2022 A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family. Biochimica et biophysica acta. Molecular basis of disease 8 36336297
2019 A tetranucleotide deletion in the ANK1 gene causes hereditary spherocytosis; a case of misdiagnosis. Gene 8 31669644
2019 A de novo ANK1 mutation associated to hereditary spherocytosis: a case report. BMC pediatrics 7 30777044
2014 Orf virus (ORFV) ANK-1 protein mitochondrial localization is mediated by ankyrin repeat motifs. Virus genes 7 24743940
2020 Global retardation and hereditary spherocytosis associated with a novel deletion of chromosome 8p11.21 encompassing KAT6A and ANK1. European journal of medical genetics 6 33059074
2019 Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family. Hematology (Amsterdam, Netherlands) 6 31390973
2024 ANK1 inhibits malignant progression of osteosarcoma by promoting ferroptosis. BMC cancer 5 39217322
2024 Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients. Scientific reports 5 39521890
2023 Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis. Frontiers in genetics 5 36816036
2021 Sequence and haplotypes of ankyrin 1 gene (ANK1) and their association with carcass and meat quality traits in yak. Mammalian genome : official journal of the International Mammalian Genome Society 5 33655403
2021 Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature. BMC medical genomics 5 33706756
2020 Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report. BMC medical genetics 5 33187473
2016 [Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 5 26829732
2023 Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum. Molecular genetics and genomics : MGG 4 36598564
2023 The Potential of ANK1 to Predict Parkinson's Disease. Genes 4 36672967
2017 An ANK1 IVS3-2A>C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis. Oncotarget 4 29348906
2024 Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis. Frontiers in genetics 3 38655052
2024 Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes. Scientific reports 3 38862513
2023 De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing. BMC pediatrics 3 36647015
2023 Case of Congenital Hemolytic Anemia with ATP11C and ANK1 Variants. Children (Basel, Switzerland) 3 37892263
2022 Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report. World journal of clinical cases 3 35801015
2017 Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis. Hematology (Amsterdam, Netherlands) 3 29099659
2025 Three novel heterozygous ANK1 loss-of-function variants cause hereditary spherocytosis in Chinese families. Annals of hematology 2 40457051
2022 Identification of a novel ANK1 mutation in hereditary spherocytosis co-existing with BWS. Molecular genetics & genomic medicine 2 35218326
2022 A Novel ANK1 Mutation in a Neonatal Hereditary Spherocytosis Case: Diagnostic Challenges and Familial Genetic Analysis. Acta haematologica 2 35817016
2021 A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis. Annals of clinical and laboratory science 2 33653793
2006 [Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis]. Gaceta medica de Mexico 2 17128827
2026 Genome writing and Targeted Delivery of the NKX6-3/ANK1 gene cluster and its Type 2 Diabetes GWAS Variants to Human iPSCs. bioRxiv : the preprint server for biology 1 41509304
2023 A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report. BMC pediatrics 1 37246216
2022 Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report. Experimental and therapeutic medicine 1 36561627
2019 [Clinical characteristics and genetic analysis of hereditary spherocytosis caused by mutations of ANK1 and SPTB genes]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 1 31014431
2010 Functional analysis of a novel cis-acting regulatory region within the human ankyrin gene (ANK-1) promoter. Molecular and cellular biology 1 20479128
2026 Correction: Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis. Frontiers in genetics 0 41551873
2026 ANK1 and EPB41 Variants and the Risk of Steroid-Induced Osteonecrosis. Arthritis & rheumatology (Hoboken, N.J.) 0 41920036
2026 De novo mutations in ANK1 and SPTB cause hereditary spherocytosis: three case reports and literature review. Annals of hematology 0 41920367
2026 A novel heterozygous mutation in ANK1 solves a mystery of a patient with hyperbilirubinemia and splenomegaly. Pakistan journal of medical sciences 0 42257088
2025 Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis. Biomedicines 0 40002721
2025 A novel ANK1 frameshift mutation associated with neonatal hereditary spherocytosis: a case report. Frontiers in pediatrics 0 41050359
2019 [Analysis of ANK1 gene mutation in a family with hereditary spherocytosis type Ⅰ]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 31598945
1998 [Isolation and cloning of expressed sequences in a region flanking ANK1 on human chromosome 8p11.2]. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 0 11717987

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