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

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; AllianceGenome:HGNC:20961
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
Summary: Predicted to enable ephrin receptor binding activity. Predicted to be involved in ephrin receptor signaling pathway; neuron remodeling; and substrate-dependent cell migration. Predicted to act upstream of or within negative regulation of ubiquitin-dependent protein catabolic process and regulation of ephrin receptor signaling pathway. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in placenta (RPKM 8.5), testis (RPKM 6.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.31

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (34889255..35097990)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (34712070..34920800)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (34857032..35059183)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ANKS1A regulates LDL receptor-related protein 1 (LRP1)-mediated cerebrovascular clearance in brain endothelial cells.
Title: ANKS1A regulates LDL receptor-related protein 1 (LRP1)-mediated cerebrovascular clearance in brain endothelial cells.
The Role of the Adapter Protein Anks1a in the Regulation of Breast Cancer Cell Motility.
Title: The Role of the Adapter Protein Anks1a in the Regulation of Breast Cancer Cell Motility.
ANKS1A genotype predicts cardiovascular events in patients with familial hypercholesterolemia.
Title: ANKS1A genotype predicts cardiovascular events in patients with familial hypercholesterolemia.
This study reveals a novel mechanism that regulates the loading of RTKs into COPII vesicles.
Title: Anks1a regulates COPII-mediated anterograde transport of receptor tyrosine kinases critical for tumorigenesis.
peptide fragments of Odin-Sam1 interacting with EphA2-Sam
Title: Peptide Fragments of Odin-Sam1: Conformational Analysis and Interaction Studies with EphA2-Sam.
Odin (ANKS1A) modulates EGF receptor recycling and stability.
Title: Odin (ANKS1A) modulates EGF receptor recycling and stability.
structural and binding affinity between odin and arap3
Title: Heterotypic Sam-Sam association between Odin-Sam1 and Arap3-Sam: binding affinity and structural insights.
RINL, as a GEF for Rab5 subfamily, is implicated in the EphA8-degradation pathway via its interaction with odin.
Title: RINL, guanine nucleotide exchange factor Rab5-subfamily, is involved in the EphA8-degradation pathway with odin.
Sam (sterile alpha motif) domains of Odin, a member of the ANKS (ankyrin repeat and sterile alpha motif domain-containing) family of proteins, are important for the regulation of EphA2 endocytosis.
Title: Solution structure of the first Sam domain of Odin and binding studies with the EphA2 receptor.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Trait-stratified genome-wide association study identifies novel and diverse genetic associations with serologic and cytokine phenotypes in systemic lupus erythematosus.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36210 (e-PCR)
- UniSTS:67595

RH40967 (e-PCR)
- UniSTS:86805

WIAF-1586 (e-PCR)
- UniSTS:818

RH121289 (e-PCR)
- UniSTS:138555

STS-N22435 (e-PCR)
- UniSTS:4686

SHGC-34024 (e-PCR)
- UniSTS:68703

RH25435 (e-PCR)
- UniSTS:57959

RH36455 (e-PCR)
- UniSTS:25992

STS-R07970 (e-PCR)
- UniSTS:23188

RH45580 (e-PCR)
- UniSTS:12753

MARC_17239-17240:1023900206:1 (e-PCR)
- UniSTS:268263

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ephrin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ephrin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ephrin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in substrate-dependent cell migration	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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

Names: Odin; ankyrin repeat and SAM domain containing 1

NCBI Reference Sequences (RefSeq)

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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)

NM_015245.3 → NP_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

A2RUC1, B4DQW8, Q5JYI9, Q5SYR2, Q86WQ7, Q92625

UniProtKB/TrEMBL

A0A3B3ISP1

Related

ENSP00000353518.3, ENST00000360359.5

Conserved Domains (7) summary

cd09499
Location:697 → 763

SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1

cd09500
Location:768 → 832

SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2

smart00454
Location:700 → 759

SAM; Sterile alpha motif

cd00204
Location:74 → 202

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:926 → 1071

PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain

pfam12796
Location:84 → 179

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:80 → 110

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

34889255..35097990

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514431.4 → XP_011512733.1 ankyrin repeat and SAM domain-containing protein 1A isoform X1

UniProtKB/TrEMBL

A0A3B3ISP1

Conserved Domains (7) summary

cd09499
Location:718 → 784

SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1

cd09500
Location:789 → 853

SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2

smart00454
Location:721 → 780

SAM; Sterile alpha motif

cd00204
Location:74 → 223

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:947 → 1093

PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain

pfam12796
Location:207 → 298

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:169 → 200

ANK; ANK repeat [structural motif]
XM_011514434.4 → XP_011512736.1 ankyrin repeat and SAM domain-containing protein 1A isoform X7

UniProtKB/TrEMBL

A0A3B3ISP1

Conserved Domains (7) summary

cd09499
Location:697 → 763

SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1

cd09500
Location:768 → 832

SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2

smart00454
Location:700 → 759

SAM; Sterile alpha motif

cd00204
Location:74 → 202

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:926 → 1072

PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain

pfam12796
Location:84 → 179

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:80 → 110

ANK; ANK repeat [structural motif]
XM_011514432.4 → XP_011512734.1 ankyrin repeat and SAM domain-containing protein 1A isoform X2

UniProtKB/TrEMBL

A0A3B3ISP1

Conserved Domains (7) summary

cd09499
Location:718 → 784

SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1

cd09500
Location:789 → 853

SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2

smart00454
Location:721 → 780

SAM; Sterile alpha motif

cd00204
Location:74 → 223

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:947 → 1092

PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain

pfam12796
Location:207 → 298

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:169 → 200

ANK; ANK repeat [structural motif]
XM_011514435.4 → XP_011512737.1 ankyrin repeat and SAM domain-containing protein 1A isoform X8

UniProtKB/TrEMBL

A0A3B3ISP1

Conserved Domains (7) summary

cd09499
Location:697 → 763

SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1

cd09500
Location:768 → 832

SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2

smart00454
Location:700 → 759

SAM; Sterile alpha motif

cd00204
Location:74 → 202

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:926 → 1071

PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain

pfam12796
Location:84 → 179

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:80 → 110

ANK; ANK repeat [structural motif]
XM_006715036.3 → XP_006715099.1 ankyrin repeat and SAM domain-containing protein 1A isoform X5

UniProtKB/TrEMBL

A0A3B3ISP1

Conserved Domains (5) summary

cd09499
Location:718 → 784

SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1

cd09500
Location:789 → 853

SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2

PHA03095
Location:70 → 305

PHA03095; ankyrin-like protein; Provisional

cd01274
Location:947 → 1093

PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain

sd00045
Location:169 → 200

ANK; ANK repeat [structural motif]
XM_005248964.4 → XP_005249021.1 ankyrin repeat and SAM domain-containing protein 1A isoform X6

UniProtKB/TrEMBL

A0A3B3ISP1

Conserved Domains (7) summary

cd09499
Location:718 → 784

SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1

cd09500
Location:789 → 853

SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2

smart00454
Location:721 → 780

SAM; Sterile alpha motif

cd00204
Location:74 → 223

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:947 → 1092

PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain

pfam12796
Location:207 → 298

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:169 → 200

ANK; ANK repeat [structural motif]
XM_047418491.1 → XP_047274447.1 ankyrin repeat and SAM domain-containing protein 1A isoform X9
XM_011514433.2 → XP_011512735.1 ankyrin repeat and SAM domain-containing protein 1A isoform X3

UniProtKB/TrEMBL

A0A3B3ISP1

Conserved Domains (7) summary

cd09499
Location:718 → 784

SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1

cd09500
Location:789 → 853

SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2

smart00454
Location:721 → 780

SAM; Sterile alpha motif

cd00204
Location:74 → 223

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:947 → 1093

PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain

pfam12796
Location:207 → 298

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:169 → 200

ANK; ANK repeat [structural motif]
XM_024446383.2 → XP_024302151.1 ankyrin repeat and SAM domain-containing protein 1A isoform X4

UniProtKB/TrEMBL

A0A3B3ISP1

Related

ENSP00000497393.1, ENST00000649117.1

Conserved Domains (6) summary

cd09499
Location:718 → 784

SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1

cd09500
Location:789 → 853

SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2

cd00204
Location:74 → 223

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:947 → 1092

PTB_Anks; Ankyrin repeat and sterile alpha motif (SAM) domain-containing (Anks) protein family Phosphotyrosine-binding (PTB) domain

sd00045
Location:169 → 200

ANK; ANK repeat [structural motif]

pfam12796
Location:272 → 311

Ank_2; Ankyrin repeats (3 copies)
XM_047418492.1 → XP_047274448.1 ankyrin repeat and SAM domain-containing protein 1A isoform X10
XM_017010593.2 → XP_016866082.1 ankyrin repeat and SAM domain-containing protein 1A isoform X11

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

34712070..34920800

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054354846.1 → XP_054210821.1 ankyrin repeat and SAM domain-containing protein 1A isoform X1
XM_054354852.1 → XP_054210827.1 ankyrin repeat and SAM domain-containing protein 1A isoform X7
XM_054354847.1 → XP_054210822.1 ankyrin repeat and SAM domain-containing protein 1A isoform X2
XM_054354853.1 → XP_054210828.1 ankyrin repeat and SAM domain-containing protein 1A isoform X8
XM_054354850.1 → XP_054210825.1 ankyrin repeat and SAM domain-containing protein 1A isoform X5
XM_054354851.1 → XP_054210826.1 ankyrin repeat and SAM domain-containing protein 1A isoform X6
XM_054354854.1 → XP_054210829.1 ankyrin repeat and SAM domain-containing protein 1A isoform X9
XM_054354848.1 → XP_054210823.1 ankyrin repeat and SAM domain-containing protein 1A isoform X3
XM_054354849.1 → XP_054210824.1 ankyrin repeat and SAM domain-containing protein 1A isoform X4
XM_054354855.1 → XP_054210830.1 ankyrin repeat and SAM domain-containing protein 1A isoform X12
XM_054354857.1 → XP_054210832.1 ankyrin repeat and SAM domain-containing protein 1A isoform X11
XM_054354856.1 → XP_054210831.1 ankyrin repeat and SAM domain-containing protein 1A isoform X10