Format

Send to:

Choose Destination

CDHR1 cadherin related family member 1 [ Homo sapiens (human) ]

Gene ID: 92211, updated on 2-Oct-2018

Summary

Official Symbol
CDHR1provided by HGNC
Official Full Name
cadherin related family member 1provided by HGNC
Primary source
HGNC:HGNC:14550
See related
Ensembl:ENSG00000148600 MIM:609502; Vega:OTTHUMG00000018634
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
RP65; PRCAD; CORD15; PCDH21
Summary
This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]
Expression
Biased expression in skin (RPKM 98.8), colon (RPKM 10.9) and 1 other tissue See more
Orthologs

Genomic context

See CDHR1 in Genome Data Viewer
Location:
10q23.1
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (84194635..84219621)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (85954391..85979377)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene competing endogenous lncRNA 2 for microRNA let-7b Neighboring gene chromosome 10 open reading frame 99 Neighboring gene leucine rich repeat, Ig-like and transmembrane domains 2 Neighboring gene leucine rich repeat, Ig-like and transmembrane domains 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1775, DKFZp434A132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
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
 
photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
photoreceptor cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
photoreceptor cell outer segment organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor outer segment membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cadherin-related family member 1
Names
MT-protocadherin
photoreceptor cadherin
protocadherin-21

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_028034.1 RefSeqGene

    Range
    4980..29966
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001171971.2NP_001165442.1  cadherin-related family member 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001165442.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB593154, BC038799
    Consensus CDS
    CCDS53548.1
    UniProtKB/Swiss-Prot
    Q96JP9
    UniProtKB/TrEMBL
    F1T0L2
    Related
    ENSP00000331063.3, OTTHUMP00000019994, ENST00000332904.7, OTTHUMT00000049112
    Conserved Domains (1) summary
    cd11304
    Location:139241
    Cadherin_repeat; Cadherin tandem repeat domain
  2. NM_033100.3NP_149091.1  cadherin-related family member 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_149091.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA576346, AB593154, AB593155, AC022389, BM674749
    Consensus CDS
    CCDS7372.1
    UniProtKB/Swiss-Prot
    Q96JP9
    UniProtKB/TrEMBL
    F1T0L2
    Related
    ENSP00000485478.1, OTTHUMP00000019993, ENST00000623527.3, OTTHUMT00000049111
    Conserved Domains (1) summary
    cd11304
    Location:139241
    Cadherin_repeat; Cadherin tandem repeat domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    84194635..84219621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540339.1XP_011538641.1  cadherin-related family member 1 isoform X3

    Conserved Domains (1) summary
    cd11304
    Location:328423
    Cadherin_repeat; Cadherin tandem repeat domain
  2. XM_011540338.1XP_011538640.1  cadherin-related family member 1 isoform X2

    Conserved Domains (1) summary
    cd11304
    Location:197299
    Cadherin_repeat; Cadherin tandem repeat domain
  3. XM_011540337.1XP_011538639.1  cadherin-related family member 1 isoform X1

    Conserved Domains (1) summary
    cd11304
    Location:197299
    Cadherin_repeat; Cadherin tandem repeat domain
  4. XM_011540340.3XP_011538642.1  cadherin-related family member 1 isoform X4

    Conserved Domains (1) summary
    cd11304
    Location:197299
    Cadherin_repeat; Cadherin tandem repeat domain
Support Center