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

    Gene ID: 203286, updated on 5-Aug-2022

    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; AllianceGenome:HGNC:26724
    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
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    Genomic context

    See ANKS6 in Genome Data Viewer
    Location:
    9q22.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (98732009..98796555, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (110903669..110968205, complement)
    105.20220307 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 uncharacterized LOC124902228 Neighboring gene Sharpr-MPRA regulatory region 5777 Neighboring gene Sharpr-MPRA regulatory region 9654 Neighboring gene uncharacterized LOC124902229 Neighboring gene Sharpr-MPRA regulatory region 15412 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 12

    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?

    Pathways from PubChem

    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, Q96D62
      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 Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      110903669..110968205 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)