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CASKIN1 CASK interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 57524, updated on 28-Jun-2021

Summary

Official Symbol
CASKIN1provided by HGNC
Official Full Name
CASK interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:20879
See related
Ensembl:ENSG00000167971 MIM:612184
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
ANKS5A
Expression
Broad expression in brain (RPKM 9.2), colon (RPKM 2.0) and 23 other tissues See more
Orthologs
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Genomic context

See CASKIN1 in Genome Data Viewer
Location:
16p13.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (2177180..2196605, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2227181..2246606, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RAB26, member RAS oncogene family Neighboring gene small nucleolar RNA, C/D box 60 Neighboring gene small nucleolar RNA host gene 19 Neighboring gene TNF receptor associated factor 7 Neighboring gene MTOR associated protein, LST8 homolog Neighboring gene Sharpr-MPRA regulatory region 11897 Neighboring gene BRICHOS domain containing 5 Neighboring gene phosphoglycolate phosphatase

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

Associated conditions

Description Tests
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

  1. NM_020764.4NP_065815.1  caskin-1

    See identical proteins and their annotated locations for NP_065815.1

    Status: VALIDATED

    Source sequence(s)
    AC009065, AF451977
    Consensus CDS
    CCDS42103.1
    UniProtKB/Swiss-Prot
    Q8WXD9
    Related
    ENSP00000345436.6, ENST00000343516.8
    Conserved Domains (13) summary
    cd09497
    Location:471536
    SAM_caskin1,2_repeat1; SAM domain of caskin protein repeat 1
    cd09498
    Location:537607
    SAM_caskin1,2_repeat2; SAM domain of caskin protein repeat 2
    smart00454
    Location:470532
    SAM; Sterile alpha motif
    cd12062
    Location:284345
    SH3_Caskin1; Src Homology 3 domain of CASK interacting protein 1
    cd00204
    Location:43168
    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 ...
    pfam06484
    Location:651809
    Ten_N; Teneurin Intracellular Region
    pfam12796
    Location:119218
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:769
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:208261
    Ank_5; Ankyrin repeats (many copies)
    pfam16600
    Location:373421
    Caskin1-CID; Caskin1 CASK-interaction domain
    pfam16632
    Location:13701431
    Caskin-tail; C-terminal region of Caskin
    pfam16907
    Location:876947
    Caskin-Pro-rich; Proline rich region of Caskin proteins
    sd00045
    Location:114145
    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_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    2177180..2196605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450361.1XP_024306129.1  caskin-1 isoform X1

    Conserved Domains (10) summary
    cd09498
    Location:474536
    SAM_caskin1,2_repeat2; SAM domain of caskin protein repeat 2
    cd12062
    Location:284345
    SH3_Caskin1; Src Homology 3 domain of CASK interacting protein 1
    cd00204
    Location:43168
    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:114145
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:769
    Ank_4; Ankyrin repeats (many copies)
    pfam16600
    Location:373421
    Caskin1-CID; Caskin1 CASK-interaction domain
    pfam16632
    Location:12991360
    Caskin-tail; C-terminal region of Caskin
    pfam16907
    Location:805876
    Caskin-Pro-rich; Proline rich region of Caskin proteins
    cl26386
    Location:640855
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:9331263
    Atrophin-1; Atrophin-1 family
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