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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
  • Ankyrin-1 3
  • 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 L1CAM interactions and Transport to the Golgi and subsequent modification. 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 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

Enhancers for ANK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F041791 1.7 FANTOM5 Ensembl ENCODE 15.8 +101.0 100995 9.5 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 CBX5 FOS ZNF263 SP3 RPL17P30 ENSG00000261449 ANK1 IKBKB KAT6A NKX6-3 LOC105379392 GC08M041760
GH08F041770 1.3 FANTOM5 Ensembl ENCODE 18.6 +125.6 125631 2.1 TBP TBL1XR1 JUN TEAD3 NCOR1 SCRT2 SMC3 NR2F6 FOS TCF7L2 ANK1 GC08P041762 GC08M041760
GH08F041683 1.5 FANTOM5 Ensembl ENCODE 13 +212.1 212066 3.1 TBP ZNF2 RAD21 YY1 RARA SCRT2 ZNF143 RCOR1 FOS ZNF362 ANK1 GPAT4 GOLGA7 ENSG00000253389 GC08P041740
GH08F041812 1.2 Ensembl ENCODE 15.5 +83.7 83734 1.0 ELF3 TBP HDAC1 ATF1 PKNOX1 NFRKB THRB ZBTB40 RAD21 RARA ANK1 ENSG00000207101 PIR35646
GH08F041787 1.1 Ensembl ENCODE 15.4 +108.7 108658 1.0 ELF3 ZNF133 FEZF1 ZNF48 ZNF366 SMARCA5 CEBPB ZEB2 TSHZ1 MAFF ANK1 GC08M041760 LOC105379392
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANK1 on UCSC Golden Path with GeneCards custom track

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

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: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 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

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
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 1

Gene Ontology (GO) - Cellular Components for ANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton NAS 1833445
GO:0005886 plasma membrane NAS,IDA 9430667
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:0006888 ER to Golgi vesicle-mediated transport IDA,TAS --
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

Unigene Clusters for ANK1 Gene

Ankyrin 1, erythrocytic:
Representative Sequences:

Clone 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 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, PaxDb, MaxQB, and MOPED for ANK1 Gene



Protein tissue co-expression partners for ANK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANK1 Gene:

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ANK1 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia ANK1 34 35
  • 89.06 (n)
cow
(Bos Taurus)
Mammalia ANK1 34 35
  • 87.78 (n)
mouse
(Mus musculus)
Mammalia Ank1 34 16 35
  • 86.33 (n)
rat
(Rattus norvegicus)
Mammalia Ank1 34
  • 86.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ANK1 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANK1 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHANK1 35
  • 79 (a)
OneToOne
ANK1 34
  • 78.51 (n)
lizard
(Anolis carolinensis)
Reptilia ANK1 35
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ank1 35
  • 75 (a)
OneToMany
si:ch211-263m18.3 34
  • 68 (n)
ANK1 (2 of 2) 35
  • 68 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9373 34
fruit fly
(Drosophila melanogaster)
Insecta Ank2 36 35
  • 53 (a)
Ank 36 35
  • 46 (a)
nompC 36
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea Y71A12B.4 36
  • 30 (a)
C29E6.2 36
  • 25 (a)
unc-44 35
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for ANK1 Gene

Variants for ANK1 Gene

Sequence variations from dbSNP and Humsavar for ANK1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs140085544 Spherocytosis 1 (SPH1) [MIM:182900] 41,716,970(+) ATTGA(C/T)TTTGG reference, missense
VAR_035605 A breast cancer sample
VAR_054991 Spherocytosis 1 (SPH1) [MIM:182900]
VAR_054992 Spherocytosis 1 (SPH1) [MIM:182900]
rs137852829 Pathogenic 41,672,445(-) AGAAT(G/T)AAGTG intron-variant, reference, stop-gained

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

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

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

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

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

Disorders for ANK1 Gene

MalaCards: The human disease database

(10) 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
  • congenital spherocytic hemolytic anemia
ank1-related spherocytosis
  • spherocytosis, type 1
8p11.2 deletion syndrome
  • del(8)(p11.2)
hemolytic anemia
  • anemia hemolytic
- 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.

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 22 64
  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 A.L. … Perea-DA-az F.J. (Gac Med Mex 2006) 3 22 46 64
  3. An alternate promoter directs expression of a truncated, muscle- specific isoform of the human ankyrin 1 gene. (PMID: 9430667) Gallagher P.G. … Forget B.G. (J. Biol. Chem. 1998) 3 4 22 64
  4. 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 22 64
  5. 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 22 64

Products for ANK1 Gene

Sources for ANK1 Gene

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