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 Protein 1A 3 4
  • Ankyrin Repeat And SAM Domain Containing 1 2 3
  • KIAA0229 2 4
  • ANKS1 3 4
  • Odin 3 4
  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1 2
  • ANKS1A 5
  • ODIN 4

External Ids for ANKS1A Gene

Previous HGNC Symbols for ANKS1A Gene

  • ANKS1

Previous GeneCards Identifiers for ANKS1A Gene

  • GC06P034966
  • GC06P034857
  • GC06P034579
  • GC06P034953
  • GC06P035516
  • GC06P042772
  • GC06P043106
  • GC06P043329
  • GC06P046026
  • GC06P037750
  • GC06P038374
  • GC06P038964
  • GC06P039552
  • GC06P040112
  • GC06P041175
  • GC06P041860
  • GC06P042507

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 Autotopagnosia. An important paralog of this gene is ANKS1B.

UniProtKB/Swiss-Prot Summary 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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKS1A Gene

Genomics for ANKS1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKS1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKS1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKS1A

Top Transcription factor binding sites by QIAGEN in the ANKS1A gene promoter:
  • c-Myc
  • HEN1
  • HOXA5
  • LCR-F1
  • Max
  • MZF-1
  • POU3F1
  • SRF
  • SRF (504 AA)
  • STAT3

Genomic Locations for ANKS1A Gene

Genomic Locations for ANKS1A Gene
chr6:34,889,255-35,097,992
(GRCh38/hg38)
Size:
208,738 bases
Orientation:
Plus strand
chr6:34,857,038-35,059,190
(GRCh37/hg19)
Size:
202,153 bases
Orientation:
Plus strand

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 (via SAM domain) with EPHA2 (via SAM domain) (PubMed:22332920). Interacts with EPHA8; EPHA8 kinase activity-independent but stimulated by EPHA8 ubiquitination. Interacts (via SAM domain) with EPHA6 (via SAM domain) (By similarity).
    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

Protein Domains for ANKS1A Gene

Suggested Antigen Peptide Sequences for ANKS1A Gene

GenScript: Design optimal peptide antigens:
  • Odin (ANS1A_HUMAN)
  • cDNA FLJ60812, highly similar to Ankyrin repeat and SAM domain-containing protein 1A (B4DQW8_HUMAN)
  • ANKS1A protein (Q49AR9_HUMAN)
genes like me logo Genes that share domains with ANKS1A: view

No data available for Graphical View of Domain Structure and 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 IEA,IPI 16273093
GO:0046875 ephrin receptor binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with ANKS1A: view
genes like me logo Genes that share phenotypes with ANKS1A: view

Animal Models for ANKS1A Gene

MGI Knock Outs for ANKS1A:
  • Anks1 Anks1<tm1b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for ANKS1A

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKS1A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

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

PathCards logo

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

mRNA/cDNA for ANKS1A Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKS1A

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

Expression for ANKS1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ANKS1A Gene



Protein tissue co-expression partners for ANKS1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Liver(4.3)
  • Bone marrow(4.2)
  • Nervous system(3.7)
  • Skin(2.7)
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 30 31
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANKS1A 30 31
  • 89.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ANKS1A 30 31
  • 87.37 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 65 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Anks1a 30
  • 84.92 (n)
Mouse
(Mus musculus)
Mammalia Anks1 30 17 31
  • 84.72 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ANKS1A 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ANKS1A 30 31
  • 76.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ANKS1A 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia anks1a 30
  • 60.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25324 30
Zebrafish
(Danio rerio)
Actinopterygii anks1aa 31
  • 74 (a)
OneToMany
anks1ab 31
  • 52 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG11168 31
  • 31 (a)
ManyToMany
CG4393 31
  • 25 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea C11E4.6 31
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToOne
Species where no ortholog for ANKS1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKS1A: view image

Paralogs for ANKS1A Gene

Paralogs for ANKS1A Gene

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

  • ANS1A_HUMAN
  • B4DQW8_HUMAN
  • Q05CP0_HUMAN
  • Q49AR9_HUMAN
genes like me logo Genes that share paralogs with ANKS1A: view

Variants for ANKS1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKS1A Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
716134 Benign: not provided 35,079,811(+) C/T INTRON_VARIANT
716868 Benign: not provided 35,082,816(+) T/C SYNONYMOUS_VARIANT
720733 Benign: not provided 35,085,918(+) C/T SYNONYMOUS_VARIANT
721533 Likely Benign: not provided 34,970,052(+) C/T SYNONYMOUS_VARIANT
721534 Likely Benign: not provided 35,017,465(+) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ANKS1A Gene

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: DISEASES

Disorder Aliases PubMed IDs
autotopagnosia
  • body-image agnosia
- 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
Open Targets Platform
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
  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
  3. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 41
  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 41
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41

Products for ANKS1A Gene

Sources for ANKS1A Gene