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    ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 203286, updated on 4-Jul-2021

    Summary

    Official Symbol
    ANKS6provided by HGNC
    Official Full Name
    ankyrin repeat and sterile alpha motif domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:26724
    See related
    Ensembl:ENSG00000165138 MIM:615370
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PKDR1; SAMD6; NPHP16; ANKRD14
    Summary
    This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.5), kidney (RPKM 2.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ANKS6 in Genome Data Viewer
    Location:
    9q22.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (98732009..98796555, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101494291..101558837, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type B receptor subunit 2 Neighboring gene septin 7 pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 5777 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 12 Neighboring gene uncharacterized LOC102724684

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC70366, DKFZp781I0117, DKFZp686D24121

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in ciliary inversin compartment IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    ankyrin repeat and SAM domain-containing protein 6
    Names
    SAM domain-containing protein 6
    ankyrin repeat domain 14
    samCystin

    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.

    Genomic

    1. NG_042237.1 RefSeqGene

      Range
      4988..69534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173551.5NP_775822.3  ankyrin repeat and SAM domain-containing protein 6

      See identical proteins and their annotated locations for NP_775822.3

      Status: REVIEWED

      Source sequence(s)
      AK074328, AK127702, AL807776, BC012981, BC064367, BM552108, BX462630, BY994327, CR749472
      Consensus CDS
      CCDS43856.1
      UniProtKB/Swiss-Prot
      Q68DC2
      UniProtKB/TrEMBL
      B3KXP1
      Related
      ENSP00000297837.6, ENST00000353234.5
      Conserved Domains (6) summary
      cd09518
      Location:771835
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      smart00454
      Location:774833
      SAM; Sterile alpha motif
      cd00204
      Location:72211
      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 ...
      pfam12796
      Location:115218
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:193245
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:78108
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      98732009..98796555 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251794.4XP_005251851.1  ankyrin repeat and SAM domain-containing protein 6 isoform X2

      Conserved Domains (6) summary
      cd09518
      Location:771835
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      smart00454
      Location:774833
      SAM; Sterile alpha motif
      cd00204
      Location:72211
      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 ...
      pfam12796
      Location:115218
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:193245
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:78108
      ANK; ANK repeat [structural motif]
    2. XM_017014445.1XP_016869934.1  ankyrin repeat and SAM domain-containing protein 6 isoform X4

      UniProtKB/Swiss-Prot
      Q68DC2
      Conserved Domains (6) summary
      cd09518
      Location:771835
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      smart00454
      Location:774833
      SAM; Sterile alpha motif
      cd00204
      Location:72211
      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 ...
      pfam12796
      Location:115218
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:193245
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:78108
      ANK; ANK repeat [structural motif]
    3. XM_005251793.4XP_005251850.1  ankyrin repeat and SAM domain-containing protein 6 isoform X1

      Conserved Domains (6) summary
      cd09518
      Location:772836
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      smart00454
      Location:775834
      SAM; Sterile alpha motif
      cd00204
      Location:72211
      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 ...
      pfam12796
      Location:115218
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:193245
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:78108
      ANK; ANK repeat [structural motif]
    4. XM_006716998.3XP_006717061.1  ankyrin repeat and SAM domain-containing protein 6 isoform X3

      UniProtKB/Swiss-Prot
      Q68DC2
      Conserved Domains (6) summary
      cd09518
      Location:772836
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      smart00454
      Location:775834
      SAM; Sterile alpha motif
      cd00204
      Location:72211
      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 ...
      pfam12796
      Location:115218
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:193245
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:78108
      ANK; ANK repeat [structural motif]
    5. XM_024447445.1XP_024303213.1  ankyrin repeat and SAM domain-containing protein 6 isoform X6

      Conserved Domains (6) summary
      cd09518
      Location:678742
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      COG0666
      Location:201354
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:99286
      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 ...
      sd00045
      Location:2147
      ANK; ANK repeat [structural motif]
      pfam00023
      Location:2148
      Ank; Ankyrin repeat
      cl28033
      Location:382630
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
    6. XM_024447447.1XP_024303215.1  ankyrin repeat and SAM domain-containing protein 6 isoform X7

      Related
      ENSP00000364159.2, ENST00000375019.6
      Conserved Domains (5) summary
      cd09518
      Location:577641
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      cd00204
      Location:101219
      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 ...
      sd00045
      Location:30128
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:34161
      Ank_2; Ankyrin repeats (3 copies)
      cl28033
      Location:281529
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
    7. XM_006716999.3XP_006717062.1  ankyrin repeat and SAM domain-containing protein 6 isoform X5

      Conserved Domains (6) summary
      cd09518
      Location:714778
      SAM_ANKS6; SAM domain of ANKS6 (or SamCystin) subfamily
      smart00454
      Location:717776
      SAM; Sterile alpha motif
      cd00204
      Location:135322
      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 ...
      pfam12796
      Location:238331
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:62106
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:167265
      ANK; ANK repeat [structural motif]
    8. XM_017014447.1XP_016869936.1  ankyrin repeat and SAM domain-containing protein 6 isoform X8

      Related
      ENST00000634393.1

    RNA

    1. XR_242576.3 RNA Sequence

    2. XR_428520.3 RNA Sequence

    3. XR_929736.2 RNA Sequence

    4. XR_001746230.1 RNA Sequence

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