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Aliases for ANK1 Gene

Aliases for ANK1 Gene

  • Ankyrin 1 2 3 5
  • Ankyrin 1, Erythrocytic 2 3
  • Erythrocyte Ankyrin 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
  • 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 Transport to the Golgi and subsequent modification and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include enzyme binding and structural constituent of cytoskeleton. An important paralog of this gene is TANC1.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANK1 Gene

Genomics for ANK1 Gene

Regulatory Elements for ANK1 Gene

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

Genomic Location for ANK1 Gene

Chromosome:
8
Start:
41,653,220 bp from pter
End:
41,896,762 bp from pter
Size:
243,543 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

neXtProt entry for ANK1 Gene

Proteomics data for ANK1 Gene at MOPED

Post-translational modifications for ANK1 Gene

  • 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.
  • Palmitoylated.
  • Regulated by phosphorylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ANK1 Gene

Domains & Families for ANK1 Gene

Gene Families for ANK1 Gene

Suggested Antigen Peptide Sequences for ANK1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 23 ANK repeats.
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 ankyrins function other than binding to spectrin (By similarity).
  • Contains 1 death domain.
  • Contains 2 ZU5 domains.
Similarity:
  • Contains 23 ANK repeats.
genes like me logo Genes that share domains with ANK1: view

Function for ANK1 Gene

Molecular function for ANK1 Gene

GENATLAS Biochemistry:
ankyrin 1,206kDa,erythrocyte membrane protein,intermediate filament associated protein (IFAP,type III),also expressed in neural tissue and skeletal muscle
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.

Gene Ontology (GO) - Molecular Function for ANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 8640229
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for ANK1 Gene COMPARTMENTS Subcellular localization image for ANK1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
plasma membrane 5
endoplasmic reticulum 4
golgi apparatus 2
endosome 1
extracellular 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0014731 spectrin-associated cytoskeleton IDA 379653
GO:0016323 basolateral plasma membrane NAS 12409278
GO:0016529 sarcoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with ANK1: view

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

Gene Ontology (GO) - Biological Process for ANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis NAS 1833445
GO:0045199 maintenance of epithelial cell apical/basal polarity TAS 11427698
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

Unigene Clusters for ANK1 Gene

Ankyrin 1, erythrocytic:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
ANK1

Expression for ANK1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ANK1 Gene



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.
genes like me logo Genes that share expression patterns with ANK1: view

Protein tissue co-expression partners for ANK1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ANK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ANK1 35
  • 87.78 (n)
  • 91.03 (a)
ANK1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANK1 35
  • 89.06 (n)
  • 93.34 (a)
ANK1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ank1 35
  • 86.33 (n)
  • 91.73 (a)
Ank1 16
Ank1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANK1 35
  • 99.58 (n)
  • 99.89 (a)
ANK1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ank1 35
  • 86.04 (n)
  • 91.64 (a)
oppossum
(Monodelphis domestica)
Mammalia ANK1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANK1 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANK1 35
  • 78.51 (n)
  • 84.22 (a)
CHANK1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANK1 36
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:ch211-263m18.3 35
  • 68 (n)
  • 71.68 (a)
ank1 36
  • 75 (a)
OneToMany
ANK1 (2 of 2) 36
  • 68 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9373 35
fruit fly
(Drosophila melanogaster)
Insecta Ank 37
  • 46 (a)
Ank2 37
  • 53 (a)
nompC 37
  • 30 (a)
Ank 36
  • 46 (a)
ManyToMany
Ank2 36
  • 6 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C29E6.2 37
  • 25 (a)
Y71A12B.4 37
  • 30 (a)
unc-44 36
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for ANK1:
  • 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)

Paralogs for ANK1 Gene

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

Variants for ANK1 Gene

Sequence variations from dbSNP and Humsavar for ANK1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_000595 -
VAR_000596 Spherocytosis 1 (SPH1)
rs2304877 - 41,708,920(-) GGCCC(A/G)TAGTC nc-transcript-variant, reference, missense
VAR_000598 -
VAR_000599 -

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

Variant ID Type Subtype PubMed ID
nsv831299 CNV Loss 17160897
nsv824614 CNV Loss 20364138
esv2676408 CNV Deletion 23128226
esv2736933 CNV Deletion 23290073
nsv890844 CNV Loss 21882294
nsv831300 CNV Loss 17160897
nsv818620 CNV Loss 17921354

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)

Relevant External Links for ANK1 Gene

HapMap Linkage Disequilibrium report
ANK1
Human Gene Mutation Database (HGMD)
ANK1

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

Disorders for ANK1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for ANK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spherocytosis, type 1
  • sph1
hereditary spherocytosis
  • spherocytosis, type 1
craniometaphyseal dysplasia
  • craniometaphyseal dysplasia, autosomal dominant
chondrocalcinosis 2
  • calcium gout
ank1-related spherocytosis
  • spherocytosis, type 1
- 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]: Spherocytosis is 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 is autosomal recessive. {ECO:0000269 PubMed:11102985, ECO:0000269 PubMed:8640229}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ANK1

Genetic Association Database (GAD)
ANK1
Human Genome Epidemiology (HuGE) Navigator
ANK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANK1
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. (Proc. Natl. Acad. Sci. U.S.A. 1990) 2 3 4 23 67
  2. Mapping the binding site on small ankyrin 1 for obscurin. (PMID: 17720975) Borzok M.A. … Bloch R.J. (J. Biol. Chem. 2007) 3 23
  3. Functional interaction between Rh proteins and the spectrin-based skeleton in erythroid and epithelial cells. (PMID: 16580865) Nicolas V. … Colin Y. (Transfus Clin Biol 2006) 3 23
  4. [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 A.L. … Perea-DA-az F.J. (Gac Med Mex 2006) 3 23
  5. Rh-RhAG/ankyrin-R, a new interaction site between the membrane bilayer and the red cell skeleton, is impaired by Rh(null)-associated mutation. (PMID: 12719424) Nicolas V. … Mouro-Chanteloup I. (J. Biol. Chem. 2003) 3 23

Products for ANK1 Gene

Sources for ANK1 Gene

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