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

    Gene ID: 23294, updated on 17-Jun-2024

    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, Apr 2022]
    Expression
    Ubiquitous expression in placenta (RPKM 8.5), testis (RPKM 6.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ANKS1A in Genome Data Viewer
    Location:
    6p21.31
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (34889255..35097990)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (34712070..34920800)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (34857032..35059183)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene bridge-like lipid transfer protein family member 3A Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:34855493-34856044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:34856778-34857660 Neighboring gene RNY3 pseudogene 15 Neighboring gene TATA-box binding protein associated factor 11 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:34893897-34894070 Neighboring gene NANOG hESC enhancer GRCh37_chr6:34960132-34960780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:34985455-34986058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24394 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35012271-35012922 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35015552-35016400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35016401-35017247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35025703-35026222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35027261-35027778 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35036049-35036712 Neighboring gene NANOG hESC enhancer GRCh37_chr6:35037908-35038409 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35049025-35049696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35054004-35054504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35055243-35056070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35056071-35056896 Neighboring gene MPRA-validated peak5763 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24395 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:35115441-35116234 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:35116235-35117028 Neighboring gene MPRA-validated peak5764 silencer Neighboring gene t-complex 11 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35152333-35152714 Neighboring gene Sharpr-MPRA regulatory region 4993 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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0229, MGC42354

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      A2RUC1, B4DQW8, Q5JYI9, Q5SYR2, Q86WQ7, Q92625
      UniProtKB/TrEMBL
      A0A3B3ISP1
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      34889255..35097990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0A3B3ISP1
      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_011514434.4XP_011512736.1  ankyrin repeat and SAM domain-containing protein 1A isoform X7

      UniProtKB/TrEMBL
      A0A3B3ISP1
      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_011514432.4XP_011512734.1  ankyrin repeat and SAM domain-containing protein 1A isoform X2

      UniProtKB/TrEMBL
      A0A3B3ISP1
      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_011514435.4XP_011512737.1  ankyrin repeat and SAM domain-containing protein 1A isoform X8

      UniProtKB/TrEMBL
      A0A3B3ISP1
      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_006715036.3XP_006715099.1  ankyrin repeat and SAM domain-containing protein 1A isoform X5

      UniProtKB/TrEMBL
      A0A3B3ISP1
      Conserved Domains (5) 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
      PHA03095
      Location:70305
      PHA03095; ankyrin-like protein; Provisional
      cd01274
      Location:9471093
      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]
    6. XM_005248964.4XP_005249021.1  ankyrin repeat and SAM domain-containing protein 1A isoform X6

      UniProtKB/TrEMBL
      A0A3B3ISP1
      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]
    7. XM_047418491.1XP_047274447.1  ankyrin repeat and SAM domain-containing protein 1A isoform X9

      UniProtKB/TrEMBL
      A0A3B3ISP1
    8. XM_011514433.2XP_011512735.1  ankyrin repeat and SAM domain-containing protein 1A isoform X3

      UniProtKB/TrEMBL
      A0A3B3ISP1
      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]
    9. XM_024446383.2XP_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: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)
    10. XM_047418492.1XP_047274448.1  ankyrin repeat and SAM domain-containing protein 1A isoform X10

    11. XM_017010593.2XP_016866082.1  ankyrin repeat and SAM domain-containing protein 1A isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      34712070..34920800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354846.1XP_054210821.1  ankyrin repeat and SAM domain-containing protein 1A isoform X1

      UniProtKB/TrEMBL
      A0A3B3ISP1
    2. XM_054354852.1XP_054210827.1  ankyrin repeat and SAM domain-containing protein 1A isoform X7

      UniProtKB/TrEMBL
      A0A3B3ISP1
    3. XM_054354847.1XP_054210822.1  ankyrin repeat and SAM domain-containing protein 1A isoform X2

      UniProtKB/TrEMBL
      A0A3B3ISP1
    4. XM_054354853.1XP_054210828.1  ankyrin repeat and SAM domain-containing protein 1A isoform X8

      UniProtKB/TrEMBL
      A0A3B3ISP1
    5. XM_054354850.1XP_054210825.1  ankyrin repeat and SAM domain-containing protein 1A isoform X5

      UniProtKB/TrEMBL
      A0A3B3ISP1
    6. XM_054354851.1XP_054210826.1  ankyrin repeat and SAM domain-containing protein 1A isoform X6

      UniProtKB/TrEMBL
      A0A3B3ISP1
    7. XM_054354854.1XP_054210829.1  ankyrin repeat and SAM domain-containing protein 1A isoform X9

      UniProtKB/TrEMBL
      A0A3B3ISP1
    8. XM_054354848.1XP_054210823.1  ankyrin repeat and SAM domain-containing protein 1A isoform X3

      UniProtKB/TrEMBL
      A0A3B3ISP1
    9. XM_054354849.1XP_054210824.1  ankyrin repeat and SAM domain-containing protein 1A isoform X4

      UniProtKB/TrEMBL
      A0A3B3ISP1
    10. XM_054354855.1XP_054210830.1  ankyrin repeat and SAM domain-containing protein 1A isoform X12

    11. XM_054354857.1XP_054210832.1  ankyrin repeat and SAM domain-containing protein 1A isoform X11

    12. XM_054354856.1XP_054210831.1  ankyrin repeat and SAM domain-containing protein 1A isoform X10