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

Gene ID: 203286, updated on 1-Jun-2020

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

Genomic context

See ANKS6 in Genome Data Viewer
Location:
9q22.33
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (98732009..98796555, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101494291..101558794, 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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
embryo development ending in birth or egg hatching IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cilium IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

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)

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.

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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