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Aliases for ANKS1A Gene

Aliases for ANKS1A Gene

  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1A 2 3 5
  • Ankyrin Repeat And SAM Domain Containing 1 2 3
  • ANKS1 3 4
  • Odin 3 4
  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1 2
  • Ankyrin Repeat And SAM Domain-Containing Protein 1A 3
  • KIAA0229 4

External Ids for ANKS1A Gene

Previous HGNC Symbols for ANKS1A Gene

  • ANKS1

Previous GeneCards Identifiers for ANKS1A Gene

  • GC06P034966
  • GC06P034857
  • GC06P034579
  • GC06P034953
  • GC06P035516
  • GC06P037750
  • GC06P038374
  • GC06P038964
  • GC06P039552
  • GC06P040112

Summaries for ANKS1A Gene

GeneCards Summary for ANKS1A Gene

ANKS1A (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1A) is a Protein Coding gene. Diseases associated with ANKS1A include Adjustment Disorder. An important paralog of this gene is ANKS1B.

UniProtKB/Swiss-Prot for ANKS1A Gene

  • Regulator of different signaling pathways. Regulates EPHA8 receptor tyrosine kinase signaling to control cell migration and neurite retraction (By similarity).

Gene Wiki entry for ANKS1A Gene

Additional gene information for ANKS1A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKS1A Gene

Genomics for ANKS1A Gene

GeneHancer (GH) Regulatory Elements for ANKS1A Gene

Promoters and enhancers for ANKS1A 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
GH06I034886 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 433 5.9 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 TAF11 ANKS1A RPS10 RPL10A UHRF1BP1 FKBP5 ENSG00000219023 ZNF76 TEAD3 TCP11
GH06I035042 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 24.8 +158.1 158099 9.7 MEIS2 CTCF PKNOX1 ZBTB21 JUN MAX SIN3A CEBPG ZNF335 ZNF121 ANKS1A TAF11 ENSG00000272374 UHRF1BP1 DEF6 RPL10A TCP11 GC06M038607 PIR51275
GH06I035467 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.4 +580.9 580879 5.4 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 RPL10A MIR7111 TAF11 BRPF3 ZNF76 ENSG00000272374 FANCE PPARD ARMC12 ANKS1A
GH06I035258 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 9.9 +370.9 370938 4.1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF76 GC06M038602 LOC101929285 TAF11 ENSG00000272374 DEF6 RPL10A RPS10 ENSG00000219023 TCP11
GH06I035686 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.8 +798.6 798556 3.6 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 FKBP5 TAF11 SRSF3 ENSG00000272374 MAPK14 ZNF76 RPL10A ARMC12 ENSG00000232909 STK38
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKS1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKS1A gene promoter:

Genomic Locations for ANKS1A Gene

Genomic Locations for ANKS1A Gene
chr6:34,889,261-35,098,010
(GRCh38/hg38)
Size:
208,750 bases
Orientation:
Plus strand
chr6:34,857,038-35,059,190
(GRCh37/hg19)

Genomic View for ANKS1A Gene

Genes around ANKS1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKS1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKS1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKS1A Gene

Proteins for ANKS1A Gene

  • Protein details for ANKS1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92625-ANS1A_HUMAN
    Recommended name:
    Ankyrin repeat and SAM domain-containing protein 1A
    Protein Accession:
    Q92625
    Secondary Accessions:
    • A2RUC1
    • B4DQW8
    • Q5JYI9
    • Q5SYR2
    • Q86WQ7

    Protein attributes for ANKS1A Gene

    Size:
    1134 amino acids
    Molecular mass:
    123108 Da
    Quaternary structure:
    • Interacts with EPHA8; EPHA8 kinase activity-independent but stimulated by EPHA8 ubiquitination (By similarity). Interacts (via SAM domain) with EPHA2 (via SAM domain).
    SequenceCaution:
    • Sequence=BAA13218.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANKS1A Gene

    Alternative splice isoforms for ANKS1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKS1A Gene

Post-translational modifications for ANKS1A Gene

  • Phosphorylated on tyrosine residues in response to EGF and PDGF.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKS1A Gene

Domains & Families for ANKS1A Gene

Gene Families for ANKS1A Gene

Suggested Antigen Peptide Sequences for ANKS1A Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANKS1A: view

No data available for UniProtKB/Swiss-Prot for ANKS1A Gene

Function for ANKS1A Gene

Molecular function for ANKS1A Gene

UniProtKB/Swiss-Prot Function:
Regulator of different signaling pathways. Regulates EPHA8 receptor tyrosine kinase signaling to control cell migration and neurite retraction (By similarity).

Phenotypes From GWAS Catalog for ANKS1A Gene

Gene Ontology (GO) - Molecular Function for ANKS1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16273093
GO:0046875 ephrin receptor binding IEA --
genes like me logo Genes that share ontologies with ANKS1A: view
genes like me logo Genes that share phenotypes with ANKS1A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKS1A Gene

Localization for ANKS1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKS1A Gene

Cytoplasm. Cell projection. Note=Cytoplasmic before and after growth factor treatment.

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 ANKS1A gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKS1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0042995 cell projection IEA --
GO:0043005 neuron projection ISS --
genes like me logo Genes that share ontologies with ANKS1A: view

Pathways & Interactions for ANKS1A Gene

SuperPathways for ANKS1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKS1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006929 substrate-dependent cell migration ISS --
GO:0016322 neuron remodeling ISS --
GO:0048013 ephrin receptor signaling pathway ISS --
GO:1901187 regulation of ephrin receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with ANKS1A: view

No data available for Pathways by source and SIGNOR curated interactions for ANKS1A Gene

Drugs & Compounds for ANKS1A Gene

No Compound Related Data Available

Transcripts for ANKS1A Gene

Unigene Clusters for ANKS1A Gene

Ankyrin repeat and sterile alpha motif domain containing 1A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKS1A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
SP1: - - -
SP2: - - - -
SP3:
SP4:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29
SP1:
SP2: - -
SP3: -
SP4:

Relevant External Links for ANKS1A Gene

GeneLoc Exon Structure for
ANKS1A
ECgene alternative splicing isoforms for
ANKS1A

Expression for ANKS1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKS1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANKS1A Gene

This gene is overexpressed in Testis (23.4) and Peripheral blood mononuclear cells (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANKS1A Gene



Protein tissue co-expression partners for ANKS1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKS1A Gene:

ANKS1A

SOURCE GeneReport for Unigene cluster for ANKS1A Gene:

Hs.656492

mRNA Expression by UniProt/SwissProt for ANKS1A Gene:

Q92625-ANS1A_HUMAN
Tissue specificity: Widely expressed (at protein level).

Evidence on tissue expression from TISSUES for ANKS1A Gene

  • Blood(4.3)
  • Liver(4.2)
  • Bone marrow(4.1)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with ANKS1A: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKS1A Gene

Orthologs for ANKS1A Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKS1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKS1A 33 34
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia ANKS1A 33 34
  • 89.76 (n)
cow
(Bos Taurus)
Mammalia ANKS1A 33 34
  • 87.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Anks1a 33
  • 84.92 (n)
mouse
(Mus musculus)
Mammalia Anks1 33 16 34
  • 84.72 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKS1A 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKS1A 33 34
  • 76.93 (n)
lizard
(Anolis carolinensis)
Reptilia ANKS1A 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia anks1a 33
  • 60.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25324 33
zebrafish
(Danio rerio)
Actinopterygii anks1aa 34
  • 74 (a)
OneToMany
anks1ab 34
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11168 34
  • 31 (a)
ManyToMany
CG4393 34
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C11E4.6 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
Species where no ortholog for ANKS1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ANKS1A Gene

ENSEMBL:
Gene Tree for ANKS1A (if available)
TreeFam:
Gene Tree for ANKS1A (if available)

Paralogs for ANKS1A Gene

Paralogs for ANKS1A Gene

(5) SIMAP similar genes for ANKS1A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ANKS1A: view

Variants for ANKS1A Gene

Sequence variations from dbSNP and Humsavar for ANKS1A Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000013480 -- 34,946,497(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000027767 -- 35,030,340(+) C/G intron_variant
rs1000031677 -- 34,894,329(+) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000048247 -- 34,932,530(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000057165 -- 35,059,570(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ANKS1A Gene

Variant ID Type Subtype PubMed ID
dgv5955n100 CNV gain 25217958
esv2731909 CNV deletion 23290073
esv2731910 CNV deletion 23290073
esv2763967 CNV gain 21179565
esv3608674 CNV loss 21293372
esv3608675 CNV loss 21293372
nsv1026121 CNV gain 25217958
nsv1074390 CNV deletion 25765185
nsv1133628 CNV deletion 24896259
nsv462905 CNV gain 19166990
nsv508402 CNV deletion 20534489
nsv5256 CNV insertion 18451855
nsv5257 CNV deletion 18451855
nsv602906 CNV gain 21841781
nsv965715 CNV duplication 23825009
nsv965716 CNV duplication 23825009

Variation tolerance for ANKS1A Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.27; 70.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKS1A Gene

Human Gene Mutation Database (HGMD)
ANKS1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKS1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKS1A Gene

Disorders for ANKS1A Gene

MalaCards: The human disease database

(1) MalaCards diseases for ANKS1A Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
adjustment disorder
  • adjustment disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKS1A

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 ANKS1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKS1A Gene

Publications for ANKS1A Gene

  1. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 58
  2. Solution structure of the first Sam domain of Odin and binding studies with the EphA2 receptor. (PMID: 22332920) Mercurio FA … Leone M (Biochemistry 2012) 3 4 58
  3. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 44 58
  4. A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. (PMID: 21529783) Heath AC … Montgomery GW (Biological psychiatry 2011) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for ANKS1A Gene

Sources for ANKS1A Gene

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