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ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A [ Homo sapiens (human) ]

Gene ID: 23294, updated on 7-Jun-2020

Summary

Official Symbol
ANKS1Aprovided by HGNC
Official Full Name
ankyrin repeat and sterile alpha motif domain containing 1Aprovided by HGNC
Primary source
HGNC:HGNC:20961
See related
Ensembl:ENSG00000064999 MIM:608994
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ANKS1
Expression
Ubiquitous expression in placenta (RPKM 8.5), testis (RPKM 6.9) and 25 other tissues See more
Orthologs

Genomic context

See ANKS1A in Genome Data Viewer
Location:
6p21.31
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (34889255..35097992)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (34857038..35085802)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene UHRF1 binding protein 1 Neighboring gene RNY3 pseudogene 15 Neighboring gene TATA-box binding protein associated factor 11 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 11 Neighboring gene t-complex 11 Neighboring gene uncharacterized LOC112267955

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
NHGRI GWA Catalog
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
NHGRI GWA Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0229, MGC42354

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ephrin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ephrin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ephrin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of ephrin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
substrate-dependent cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ankyrin repeat and SAM domain-containing protein 1A
Names
Odin
ankyrin repeat and SAM domain containing 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015245.3NP_056060.2  ankyrin repeat and SAM domain-containing protein 1A

    See identical proteins and their annotated locations for NP_056060.2

    Status: VALIDATED

    Source sequence(s)
    AL033520, AL138721, BC022396, BF592042, D86982
    Consensus CDS
    CCDS4798.1
    UniProtKB/Swiss-Prot
    Q92625
    UniProtKB/TrEMBL
    Q05CP0
    Related
    ENSP00000353518.3, ENST00000360359.5
    Conserved Domains (7) summary
    cd09499
    Location:697763
    SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
    cd09500
    Location:768832
    SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
    smart00454
    Location:700759
    SAM; Sterile alpha motif
    cd00204
    Location:74202
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01274
    Location:9261071
    PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain
    pfam12796
    Location:84179
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:80110
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    34889255..35097992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514431.3XP_011512733.1  ankyrin repeat and SAM domain-containing protein 1A isoform X1

    Conserved Domains (7) summary
    cd09499
    Location:718784
    SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
    cd09500
    Location:789853
    SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
    smart00454
    Location:721780
    SAM; Sterile alpha motif
    cd00204
    Location:74223
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01274
    Location:9471093
    PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain
    pfam12796
    Location:207298
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:169200
    ANK; ANK repeat [structural motif]
  2. XM_011514434.3XP_011512736.1  ankyrin repeat and SAM domain-containing protein 1A isoform X7

    Conserved Domains (7) summary
    cd09499
    Location:697763
    SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
    cd09500
    Location:768832
    SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
    smart00454
    Location:700759
    SAM; Sterile alpha motif
    cd00204
    Location:74202
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01274
    Location:9261072
    PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain
    pfam12796
    Location:84179
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:80110
    ANK; ANK repeat [structural motif]
  3. XM_011514432.3XP_011512734.1  ankyrin repeat and SAM domain-containing protein 1A isoform X2

    Conserved Domains (7) summary
    cd09499
    Location:718784
    SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
    cd09500
    Location:789853
    SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
    smart00454
    Location:721780
    SAM; Sterile alpha motif
    cd00204
    Location:74223
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01274
    Location:9471092
    PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain
    pfam12796
    Location:207298
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:169200
    ANK; ANK repeat [structural motif]
  4. XM_011514435.3XP_011512737.1  ankyrin repeat and SAM domain-containing protein 1A isoform X8

    Conserved Domains (7) summary
    cd09499
    Location:697763
    SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
    cd09500
    Location:768832
    SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
    smart00454
    Location:700759
    SAM; Sterile alpha motif
    cd00204
    Location:74202
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01274
    Location:9261071
    PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain
    pfam12796
    Location:84179
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:80110
    ANK; ANK repeat [structural motif]
  5. XM_005248964.3XP_005249021.1  ankyrin repeat and SAM domain-containing protein 1A isoform X6

    Conserved Domains (7) summary
    cd09499
    Location:718784
    SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
    cd09500
    Location:789853
    SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
    smart00454
    Location:721780
    SAM; Sterile alpha motif
    cd00204
    Location:74223
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01274
    Location:9471092
    PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain
    pfam12796
    Location:207298
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:169200
    ANK; ANK repeat [structural motif]
  6. XM_006715036.2XP_006715099.1  ankyrin repeat and SAM domain-containing protein 1A isoform X5

    Conserved Domains (7) summary
    cd09499
    Location:718784
    SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
    cd09500
    Location:789853
    SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
    smart00454
    Location:721780
    SAM; Sterile alpha motif
    cd00204
    Location:74223
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01274
    Location:9471093
    PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain
    pfam12796
    Location:207298
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:169200
    ANK; ANK repeat [structural motif]
  7. XM_011514433.1XP_011512735.1  ankyrin repeat and SAM domain-containing protein 1A isoform X3

    Conserved Domains (7) summary
    cd09499
    Location:718784
    SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
    cd09500
    Location:789853
    SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
    smart00454
    Location:721780
    SAM; Sterile alpha motif
    cd00204
    Location:74223
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01274
    Location:9471093
    PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain
    pfam12796
    Location:207298
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:169200
    ANK; ANK repeat [structural motif]
  8. XM_024446383.1XP_024302151.1  ankyrin repeat and SAM domain-containing protein 1A isoform X4

    Related
    ENSP00000497393.1, ENST00000649117.1
    Conserved Domains (6) summary
    cd09499
    Location:718784
    SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
    cd09500
    Location:789853
    SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
    cd00204
    Location:74223
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01274
    Location:9471092
    PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain
    sd00045
    Location:169200
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:272311
    Ank_2; Ankyrin repeats (3 copies)
  9. XM_011514436.3XP_011512738.1  ankyrin repeat and SAM domain-containing protein 1A isoform X9

    Conserved Domains (7) summary
    cd09499
    Location:652718
    SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
    cd09500
    Location:723787
    SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
    smart00454
    Location:655714
    SAM; Sterile alpha motif
    cd00204
    Location:8157
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd01274
    Location:8811027
    PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain
    pfam12796
    Location:141232
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:103134
    ANK; ANK repeat [structural motif]
  10. XM_011514437.3XP_011512739.1  ankyrin repeat and SAM domain-containing protein 1A isoform X10

    Conserved Domains (4) summary
    cd09499
    Location:156222
    SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
    cd09500
    Location:227291
    SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
    smart00454
    Location:159218
    SAM; Sterile alpha motif
    cd01274
    Location:385531
    PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain
  11. XM_017010593.1XP_016866082.1  ankyrin repeat and SAM domain-containing protein 1A isoform X11

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