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PCDH17 protocadherin 17 [ Homo sapiens (human) ]

Gene ID: 27253, updated on 7-Jun-2020

Summary

Official Symbol
PCDH17provided by HGNC
Official Full Name
protocadherin 17provided by HGNC
Primary source
HGNC:HGNC:14267
See related
Ensembl:ENSG00000118946 MIM:611760
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]
Expression
Broad expression in spleen (RPKM 10.8), brain (RPKM 7.3) and 14 other tissues See more
Orthologs

Genomic context

See PCDH17 in Genome Data Viewer
Location:
13q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 tRNA-Glu (CTC) 4-1 Neighboring gene RNA, 5S ribosomal pseudogene 30

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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
synaptic membrane adhesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protocadherin-17
Names
protocadherin 68

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.

mRNA and Protein(s)

  1. NM_001040429.3NP_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
    ENSP00000367151.3, ENST00000377918.8
    Conserved Domains (2) summary
    cd11304
    Location:247347
    Cadherin_repeat; Cadherin tandem repeat domain
    cl09101
    Location:21112
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

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_000013.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005266357.2XP_005266414.1  protocadherin-17 isoform X1

    See identical proteins and their annotated locations for XP_005266414.1

    UniProtKB/Swiss-Prot
    O14917
    Conserved Domains (2) summary
    cd11304
    Location:247347
    Cadherin_repeat; Cadherin tandem repeat domain
    cl09101
    Location:21112
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
  2. XM_005266358.2XP_005266415.1  protocadherin-17 isoform X2

    Conserved Domains (2) summary
    cd11304
    Location:247347
    Cadherin_repeat; Cadherin tandem repeat domain
    cl09101
    Location:21112
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
  3. XM_017020547.1XP_016876036.1  protocadherin-17 isoform X3

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.
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