Format

Send to:

Choose Destination

PCDHB1 protocadherin beta 1 [ Homo sapiens (human) ]

Gene ID: 29930, updated on 13-Mar-2020

Summary

Official Symbol
PCDHB1provided by HGNC
Official Full Name
protocadherin beta 1provided by HGNC
Primary source
HGNC:HGNC:8680
See related
Ensembl:ENSG00000171815 MIM:606327
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
PCDH-BETA1
Summary
This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
Orthologs

Genomic context

See PCDHB1 in Genome Data Viewer
Location:
5q31.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (141051374..141059346)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140430979..140433512)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protocadherin alpha 1 Neighboring gene protocadherin alpha cluster, complex locus Neighboring gene protocadherin alpha 2 Neighboring gene protocadherin alpha 3 Neighboring gene protocadherin alpha 4 Neighboring gene protocadherin alpha 5 Neighboring gene protocadherin alpha 6 Neighboring gene uncharacterized LOC112267934 Neighboring gene protocadherin alpha 7 Neighboring gene protocadherin alpha 8 Neighboring gene protocadherin alpha 9 Neighboring gene protocadherin alpha 10 Neighboring gene protocadherin alpha 11 Neighboring gene protocadherin alpha 12 Neighboring gene protocadherin alpha 13 Neighboring gene protocadherin alpha subfamily C, 1 Neighboring gene protocadherin alpha subfamily C, 2 Neighboring gene protocadherin alpha constant Neighboring gene uncharacterized LOC101926905 Neighboring gene protocadherin beta cluster Neighboring gene protocadherin beta 2 Neighboring gene protocadherin beta 3

Genomic regions, transcripts, and products

General gene information

Markers

Homology

Clone Names

  • MGC138301, MGC138303

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
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
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protocadherin beta-1
Names
PCDH-beta-1

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_000017.2 

    Range
    19513..22099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_050759.1 RefSeqGene

    Range
    5001..7587
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_013340.4NP_037472.2  protocadherin beta-1 precursor

    See identical proteins and their annotated locations for NP_037472.2

    Status: REVIEWED

    Source sequence(s)
    AC010223
    Consensus CDS
    CCDS4243.1
    UniProtKB/Swiss-Prot
    Q9Y5F3
    Related
    ENSP00000307234.3, ENST00000306549.5
    Conserved Domains (3) summary
    cd11304
    Location:246343
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08266
    Location:30110
    Cadherin_2; Cadherin-like
    pfam16492
    Location:688772
    Cadherin_C_2; Cadherin cytoplasmic C-terminal

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    141051374..141059346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center