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PCDH17 protocadherin 17 [ Homo sapiens (human) ]

Gene ID: 27253, updated on 8-May-2016
Official Symbol
PCDH17provided by HGNC
Official Full Name
protocadherin 17provided by HGNC
Primary source
HGNC:HGNC:14267
See related
Ensembl:ENSG00000118946 MIM:611760; Vega:OTTHUMG00000016992
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
PCH68; PCDH68
Summary
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]
Orthologs
Location:
13q21.1
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (57630104..57729311)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (58204238..58303445)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 53 Neighboring gene uncharacterized LOC105370217 Neighboring gene transfer RNA-Glu (CTC) 4-1 Neighboring gene RNA, 5S ribosomal pseudogene 30

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adult behavior IEA
Inferred from Electronic Annotation
more info
 
homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
negative regulation of synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
presynaptic active zone assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic vesicle clustering IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protocadherin-17
Names
protocadherin 68
protocadherin-68

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_001040429.2NP_001035519.1  protocadherin-17 precursor

    See identical proteins and their annotated locations for NP_001035519.1

    Status: REVIEWED

    Source sequence(s)
    AL445216, AL445288, BC028165
    Consensus CDS
    CCDS31986.1
    UniProtKB/Swiss-Prot
    O14917
    Related
    ENSP00000367151, OTTHUMP00000018476, ENST00000377918, OTTHUMT00000045139
    Conserved Domains (1) summary
    cd11304
    Location:247347
    Cadherin_repeat; Cadherin tandem repeat domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

    Range
    57630104..57729311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266358.1XP_005266415.1  

    Conserved Domains (1) summary
    cd11304
    Location:247347
    Cadherin_repeat; Cadherin tandem repeat domain
  2. XM_005266357.1XP_005266414.1  

    See identical proteins and their annotated locations for XP_005266414.1

    UniProtKB/Swiss-Prot
    O14917
    Conserved Domains (1) summary
    cd11304
    Location:247347
    Cadherin_repeat; Cadherin tandem repeat domain
  3. XM_011535050.1XP_011533352.1  

    Conserved Domains (1) summary
    cd11304
    Location:247347
    Cadherin_repeat; Cadherin tandem repeat domain

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    58173338..58270626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_014459.2: Suppressed sequence

    Description
    NM_014459.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.