Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specif... See more...

Aliases for ANK1 Gene

Aliases for ANK1 Gene

  • Ankyrin 1 2 3 5
  • Ankyrin 1, Erythrocytic 2 3
  • Erythrocyte Ankyrin 3 4
  • Ankyrin-1 3 4
  • Ankyrin-R 3 4
  • ANK-1 3 4
  • ANK 3 4
  • SPH1 3
  • SPH2 3

External Ids for ANK1 Gene

Previous HGNC Symbols for ANK1 Gene

  • ANK

Previous GeneCards Identifiers for ANK1 Gene

  • GC08M042256
  • GC08M041539
  • GC08M041251
  • GC08M041528
  • GC08M041629
  • GC08M041510
  • GC08M040038

Summaries for ANK1 Gene

Entrez Gene Summary for ANK1 Gene

  • Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]

GeneCards Summary for ANK1 Gene

ANK1 (Ankyrin 1) is a Protein Coding gene. Diseases associated with ANK1 include Spherocytosis, Type 1 and Hereditary Spherocytosis. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include enzyme binding and structural constituent of cytoskeleton. An important paralog of this gene is ANK2.

UniProtKB/Swiss-Prot Summary for ANK1 Gene

  • Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions.
  • [Isoform Mu17]: Together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils.

Gene Wiki entry for ANK1 Gene

Additional gene information for ANK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANK1 Gene

Genomics for ANK1 Gene

GeneHancer (GH) Regulatory Elements for ANK1 Gene

Promoters and enhancers for ANK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J041791 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 515.9 +101.0 100959 9.6 HNRNPK EP300 ZSCAN5C NRF1 TCF12 POLR2G GTF2E2 JUND FOS ZNF639 ANK1 LOC105379392 lnc-GPAT4-5 lnc-KAT6A-4 NKX6-3 piR-50444-451
GH08J041659 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 507.6 +233.5 233509 8.2 ZIC2 ZNF423 REST ZNF341 OSR2 TCF12 POLR2A ZNF316 MAFF CTCF ANK1 GINS4 ENSG00000253389 MIR486-1 MIR486-2 lnc-NKX6-3-3 RF00017-6993
GH08J041896 Promoter 1.5 EPDnew Ensembl 500.7 0.0 -39 1.6 HNRNPK NRF1 USF1 ZIC2 REST GABPA AFF1 ZBTB26 ZBTB25 TGIF2 ANK1 RF00998-129
GH08J041770 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 19.4 +124.9 124947 3.6 JUND FOS MYC CTBP1 JUN NCOR1 FOSL1 MYNN MAX FOSL2 ANK1 ENSG00000260588 5EW4_A-048 lnc-GPAT4-1 lnc-GPAT4-4 RF00017-6993
GH08J041812 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.7 +83.9 83861 2.2 CTCF NRF1 NCOR1 GTF2E2 POLR2A KDM6A ZBTB11 REST TOE1 MYC ANK1 ENSG00000207101 piR-42647
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANK1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANK1

Top Transcription factor binding sites by QIAGEN in the ANK1 gene promoter:
  • TBP

Genomic Locations for ANK1 Gene

Genomic Locations for ANK1 Gene
chr8:41,653,220-41,896,762
(GRCh38/hg38)
Size:
243,543 bases
Orientation:
Minus strand
chr8:41,510,739-41,754,280
(GRCh37/hg19)
Size:
243,542 bases
Orientation:
Minus strand

Genomic View for ANK1 Gene

Genes around ANK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANK1 Gene

Proteins for ANK1 Gene

  • Protein details for ANK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16157-ANK1_HUMAN
    Recommended name:
    Ankyrin-1
    Protein Accession:
    P16157
    Secondary Accessions:
    • A0PJN8
    • A6NJ23
    • E5RFL7
    • O43400
    • Q13768
    • Q53ER1
    • Q59FP2
    • Q8N604
    • Q99407

    Protein attributes for ANK1 Gene

    Size:
    1881 amino acids
    Molecular mass:
    206265 Da
    Quaternary structure:
    • Interacts with a number of integral membrane proteins and cytoskeletal proteins. Interacts (via N-terminus) with SPTB/spectrin (beta chain). Interacts (via N-terminus ANK repeats) with SLC4A1/erythrocyte membrane protein band 3 (via cytoplasmic N-terminus). Also interacts with TTN/titin. Isoform Mu17 interacts with OBSCN isoform 3/obscurin. Interacts with HIF1AN.
    Miscellaneous:
    • [Isoform Er1]: Major erythrocyte-specific isoform. Produced by alternative promoter usage.
    • [Isoform Er2]: Predominant form of minor erythrocyte-specific isoforms. Produced by alternative splicing of isoform Er1.
    • [Isoform Er3]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er4]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er5]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er6]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er7]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er9]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er10]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er11]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er12]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er13]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er14]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er15]: Produced by alternative splicing of isoform Er1.
    • [Isoform Er16]: Produced by alternative splicing of isoform Er1.
    • [Isoform Mu17]: Produced by alternative promoter usage.
    • [Isoform Mu18]: Produced by alternative splicing of isoform Mu17.
    • [Isoform Mu19]: Produced by alternative splicing of isoform Mu17.
    • [Isoform Mu20]: Produced by alternative splicing of isoform Mu17.
    • [Isoform Br21]: Produced by alternative splicing of isoform Er1.
    • [Isoform 22]: Produced by alternative splicing.
    SequenceCaution:
    • Sequence=AAB47805.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANK1 Gene

neXtProt entry for ANK1 Gene

Post-translational modifications for ANK1 Gene

  • Regulated by phosphorylation.
  • Palmitoylated.
  • Hydroxylated by HIF1AN at several asparagine and 1 aspartate residue within ANK repeat region. Hydroxylation seems to increase the conformational stability of this region and may also modulate protein-protein interactions mediated by the ANK repeat region.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANK1 Gene

Domains & Families for ANK1 Gene

Gene Families for ANK1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ANK1 Gene

Blocks:
  • Ankyrin repeat signature
  • Death domain
  • ZU5 domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANK1 Gene

GenScript: Design optimal peptide antigens:
  • Erythrocyte ankyrin (ANK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P16157

UniProtKB/Swiss-Prot:

ANK1_HUMAN :
  • The 55 kDa regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) and SLC4A1/erythrocyte membrane protein band 3.
Domain:
  • The 55 kDa regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) and SLC4A1/erythrocyte membrane protein band 3.
  • The ANK repeat region forms a spiral around a large central cavity and is involved in binding of ion transporters.
  • The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrin's function other than binding to spectrin (By similarity).
genes like me logo Genes that share domains with ANK1: view

Function for ANK1 Gene

Molecular function for ANK1 Gene

UniProtKB/Swiss-Prot Function:
Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions.
UniProtKB/Swiss-Prot Function:
[Isoform Mu17]: Together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils.
GENATLAS Biochemistry:
ankyrin 1,206kDa,erythrocyte membrane protein,intermediate filament associated protein (IFAP,type III),also expressed in neural tissue and skeletal muscle

Phenotypes From GWAS Catalog for ANK1 Gene

Gene Ontology (GO) - Molecular Function for ANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity NAS 9430667
GO:0005200 structural constituent of cytoskeleton TAS 8640229
GO:0005515 protein binding IPI 379653
GO:0008093 cytoskeletal adaptor activity IDA,TAS 11427698
GO:0019899 enzyme binding TAS 11427698
genes like me logo Genes that share ontologies with ANK1: view
genes like me logo Genes that share phenotypes with ANK1: view

Human Phenotype Ontology for ANK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ANK1 Gene

Localization for ANK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANK1 Gene

[Isoform Er1]: Cytoplasm, cytoskeleton. Note=Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane.
[Isoform Mu17]: Membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells.
[Isoform Mu18]: Sarcoplasmic reticulum.
[Isoform Mu19]: Sarcoplasmic reticulum.
[Isoform Mu20]: Sarcoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANK1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 4
endoplasmic reticulum 4
extracellular 2
mitochondrion 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton NAS 1833445
GO:0005886 plasma membrane IDA,NAS 9430667
genes like me logo Genes that share ontologies with ANK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANK1 Gene

Pathways & Interactions for ANK1 Gene

genes like me logo Genes that share pathways with ANK1: view

Pathways by source for ANK1 Gene

1 Qiagen pathway for ANK1 Gene
  • Rac1 Pathway

Gene Ontology (GO) - Biological Process for ANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis NAS 1833445
GO:0006888 ER to Golgi vesicle-mediated transport TAS,IDA --
GO:0007010 cytoskeleton organization NAS 9430667
GO:0007165 signal transduction IEA --
GO:0010638 positive regulation of organelle organization IEA --
genes like me logo Genes that share ontologies with ANK1: view

No data available for SIGNOR curated interactions for ANK1 Gene

Drugs & Compounds for ANK1 Gene

(4) Drugs for ANK1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ANK1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ANK1: view

Transcripts for ANK1 Gene

mRNA/cDNA for ANK1 Gene

10 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANK1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 26a · 26b ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44a · 44b · 44c · 44d · 44e ^
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - -
SP6:
SP7: - - - -
SP8:
SP9: -
SP10:
SP11:
SP12:

ExUns: 45 ^ 46a · 46b · 46c ^ 47a · 47b ^ 48a · 48b · 48c · 48d · 48e
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5:
SP6: - -
SP7:
SP8: - - - -
SP9:
SP10:
SP11: - - -
SP12: - - - - -

Relevant External Links for ANK1 Gene

GeneLoc Exon Structure for
ANK1

Expression for ANK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANK1 Gene

This gene is overexpressed in Muscle - Skeletal (x11.0), Brain - Cerebellar Hemisphere (x9.1), Brain - Cerebellum (x8.6), and Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for ANK1 Gene

This gene is overexpressed in Neutrophil (22.5) and Skin (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANK1 Gene



Protein tissue co-expression partners for ANK1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANK1

SOURCE GeneReport for Unigene cluster for ANK1 Gene:

Hs.654438

mRNA Expression by UniProt/SwissProt for ANK1 Gene:

P16157-ANK1_HUMAN
Tissue specificity: Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain.

Evidence on tissue expression from TISSUES for ANK1 Gene

  • Blood(4.7)
  • Muscle(4.7)
  • Nervous system(4.6)
  • Liver(4.3)
  • Heart(2.4)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • outer ear
  • pituitary gland
  • skull
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
Pelvis:
  • penis
  • prostate
  • testicle
  • vas deferens
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ANK1: view

Orthologs for ANK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANK1 31 30
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANK1 31 30
  • 89.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANK1 31 30
  • 87.78 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ank1 17 31 30
  • 86.33 (n)
rat
(Rattus norvegicus)
Mammalia Ank1 30
  • 86.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ANK1 31
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANK1 31
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHANK1 31
  • 79 (a)
OneToOne
ANK1 30
  • 78.51 (n)
lizard
(Anolis carolinensis)
Reptilia ANK1 31
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ank1 31
  • 75 (a)
OneToMany
ANK1 (2 of 2) 31
  • 68 (a)
OneToMany
si:ch211-263m18.3 30
  • 68 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9373 30
fruit fly
(Drosophila melanogaster)
Insecta Ank 31 32
  • 46 (a)
ManyToMany
nompC 32
  • 30 (a)
Ank2 31 32
  • 6 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y71A12B.4 32
  • 30 (a)
C29E6.2 32
  • 25 (a)
unc-44 31
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToMany
Species where no ortholog for ANK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ANK1 Gene

ENSEMBL:
Gene Tree for ANK1 (if available)
TreeFam:
Gene Tree for ANK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANK1: view image

Paralogs for ANK1 Gene

Paralogs for ANK1 Gene

(23) SIMAP similar genes for ANK1 Gene using alignment to 5 proteins:

  • ANK1_HUMAN
  • C9JN86_HUMAN
  • H0YAY8_HUMAN
  • H0YBS0_HUMAN
  • Q6PK32_HUMAN
genes like me logo Genes that share paralogs with ANK1: view

Variants for ANK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANK1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
617974 Likely Pathogenic: not provided 41,693,109(-) CAG/C FRAMESHIFT_VARIANT
708038 Benign: not provided 41,692,838(-) A/G MISSENSE_VARIANT
709246 Benign: not provided 41,696,578(-) C/T SYNONYMOUS_VARIANT
709814 Benign: not provided 41,695,168(-) C/G INTRON_VARIANT
711338 Likely Benign: not provided 41,717,682(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ANK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANK1 Gene

Variant ID Type Subtype PubMed ID
dgv2071e212 CNV loss 25503493
esv2676408 CNV deletion 23128226
esv2736933 CNV deletion 23290073
esv3113727 CNV deletion 24192839
esv3572713 CNV loss 25503493
esv3576565 CNV gain 25503493
esv3616991 CNV loss 21293372
esv3616992 CNV loss 21293372
esv3616993 CNV loss 21293372
nsv1112961 CNV deletion 24896259
nsv1132142 CNV deletion 24896259
nsv1144227 CNV deletion 24896259
nsv474166 CNV novel sequence insertion 20440878
nsv480661 CNV novel sequence insertion 20440878
nsv611130 CNV loss 21841781
nsv818620 CNV loss 17921354
nsv824614 CNV loss 20364138
nsv831299 CNV loss 17160897
nsv831300 CNV loss 17160897

Variation tolerance for ANK1 Gene

Residual Variation Intolerance Score: 1.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.09; 75.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANK1 Gene

Human Gene Mutation Database (HGMD)
ANK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANK1 Gene

Disorders for ANK1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for ANK1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spherocytosis, type 1
  • sph1
hereditary spherocytosis
  • spherocytosis, type 1
8p11.2 deletion syndrome
  • del(8)(p11.2)
hemolytic anemia
  • anemia hemolytic
hereditary elliptocytosis
  • congenital elliptocytosis
- elite association - COSMIC cancer census association via MalaCards
Search ANK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ANK1_HUMAN
  • Spherocytosis 1 (SPH1) [MIM:182900]: A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder. {ECO:0000269 PubMed:11102985, ECO:0000269 PubMed:8640229}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ANK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANK1: view

No data available for Genatlas for ANK1 Gene

Publications for ANK1 Gene

  1. cDNA sequence for human erythrocyte ankyrin. (PMID: 1689849) Lambert S … Palek J (Proceedings of the National Academy of Sciences of the United States of America 1990) 2 3 4 23 54
  2. [Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis]. (PMID: 17128827) Camacho-Torres AL … Perea-Díaz FJ (Gaceta medica de Mexico 2006) 3 23 41 54
  3. An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene. (PMID: 9430667) Gallagher PG … Forget BG (The Journal of biological chemistry 1998) 3 4 23 54
  4. Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing. (PMID: 9235914) Gallagher PG … Forget BG (The Journal of biological chemistry 1997) 3 4 23 54
  5. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. (PMID: 8640229) Eber SW … Lux SE (Nature genetics 1996) 3 4 23 54

Products for ANK1 Gene

Sources for ANK1 Gene