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Aliases for ANK1 Gene

Aliases for ANK1 Gene

  • Ankyrin 1, Erythrocytic 2 3
  • Erythrocyte Ankyrin 3 4
  • Ankyrin-R 3 4
  • ANK-1 3 4
  • SPH2 3 6
  • ANK 3 4
  • Ankyrin-1 3
  • Sph1 3

External Ids for ANK1 Gene

Previous Symbols for ANK1 Gene

  • ANK

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, Erythrocytic) is a Protein Coding gene. Diseases associated with ANK1 include spherocytosis, type 1 and ank1-related spherocytosis. Among its related pathways are Proteoglycans in cancer and L1CAM interactions. GO annotations related to this gene include enzyme binding and structural constituent of cytoskeleton. An important paralog of this gene is ANKRD52.

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

Genomic Location for ANK1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANK1 Gene

Regulatory Elements for ANK1 Gene

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

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

No data available for DME Specific Peptides for ANK1 Gene

Domains for ANK1 Gene

Gene Families for ANK1 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

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
Domain:
  • The 55 kDa regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) and SLC4A1/erythrocyte membrane protein band 3:
    • P16157
  • The ANK repeat region forms a spiral around a large central cavity and is involved in binding of ion transporters:
    • P16157
  • 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).:
    • P16157
  • Contains 1 death domain.:
    • P16157
  • Contains 2 ZU5 domains.:
    • P16157
Similarity:
  • Contains 23 ANK repeats.:
    • P16157
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:0005198 structural molecule activity NAS 9430667
GO:0005200 structural constituent of cytoskeleton TAS 8640229
GO:0005515 protein binding IPI 12527750
GO:0008093 cytoskeletal adaptor activity 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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
plasma membrane 5
cytosol 4
endoplasmic reticulum 4
nucleus 3
extracellular 2
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for ANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton NAS 1833445
GO:0005886 plasma membrane NAS 9430667
GO:0014731 spectrin-associated cytoskeleton IDA 379653
genes like me logo Genes that share ontologies with ANK1: view

Pathways for ANK1 Gene

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

Pathways by source for ANK1 Gene

1 KEGG pathway for ANK1 Gene

Gene Ontology (GO) - Biological Process for ANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006887 exocytosis NAS 1833445
GO:0006888 ER to Golgi vesicle-mediated transport IDA 18768923
GO:0007010 cytoskeleton organization NAS 9430667
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with ANK1: view

Compounds for ANK1 Gene

(6) Novoseek inferred chemical compound relationships for ANK1 Gene

Compound -log(P) Hits PubMed IDs
phosphatidylethanolamine 29.2 2
phosphatidylserine 23.7 1
phosphatidylcholine 23.5 2
lipid 3.03 1
zinc 0 3
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:

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 (11.0), Brain - Cerebellar Hemisphere (9.1), Brain - Cerebellum (8.6), and Heart - Left Ventricle (4.2).

Integrated Proteomics: protein expression 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 expressions 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 35
  • 99.58 (n)
  • 99.89 (a)
ANK1 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ANK1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANK1 36
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ank1 35
  • 86.04 (n)
  • 91.64 (a)
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9373 35
zebrafish
(Danio rerio)
Actinopterygii ank1 36
  • 75 (a)
OneToMany
ANK1 (2 of 2) 36
  • 68 (a)
OneToMany
si:ch211-263m18.3 35
  • 68 (n)
  • 71.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ank 36
  • 46 (a)
ManyToMany
Ank2 36
  • 6 (a)
ManyToMany
nompC 37
  • 30 (a)
Ank2 37
  • 53 (a)
Ank 37
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-44 36
  • 12 (a)
OneToMany
C29E6.2 37
  • 25 (a)
Y71A12B.4 37
  • 30 (a)
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

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 MAF
rs1657 -- 41,745,895(-) CAAAT(A/C)AATAA intron-variant
rs3611 -- 41,739,614(-) gccgt(A/C/G/T)aatac intron-variant
rs4026 -- 41,788,192(+) CAAGA(C/T)GATGT intron-variant
rs88906 -- 41,744,597(-) attgc(A/G)ccact intron-variant
rs473235 -- 41,715,970(-) CTTAG(C/T)TGTGT intron-variant

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

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

(1) OMIM Diseases for ANK1 Gene (612641)

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.

(3) University of Copenhagen DISEASES for ANK1 Gene

(6) Novoseek inferred disease relationships for ANK1 Gene

Disease -log(P) Hits PubMed IDs
spherocytosis hereditary 92.4 16
spherocytosis 82 4
human granulocytic ehrlichiosis 62.2 1
anemia hemolytic 57.9 1
erythroleukemia 28 1

Relevant External Links for ANK1

Genetic Association Database (GAD)
ANK1
Human Genome Epidemiology (HuGE) Navigator
ANK1
genes like me logo Genes that share disorders with ANK1: view

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
  2. Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins. (PMID: 2137557) Lux S.E. … Bennett V. (Nature 1990) 3 4 23
  3. Mapping the binding sites of human erythrocyte ankyrin for the anion exchanger and spectrin. (PMID: 2141335) Davis L.H. … Bennett V. (J. Biol. Chem. 1990) 3 4 23
  4. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. (PMID: 8640229) Eber S.W. … Lux S.E. (Nat. Genet. 1996) 3 4 23
  5. Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing. (PMID: 9235914) Gallagher P.G. … Forget B.G. (J. Biol. Chem. 1997) 3 4 23

Products for ANK1 Gene

Sources for ANK1 Gene

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