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CBX7 chromobox 7 [ Homo sapiens (human) ]

Gene ID: 23492, updated on 10-Oct-2019

Summary

Official Symbol
CBX7provided by HGNC
Official Full Name
chromobox 7provided by HGNC
Primary source
HGNC:HGNC:1557
See related
Ensembl:ENSG00000100307 MIM:608457
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
Summary
This gene encodes a protein that contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control the lifespan of several normal human cells. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in ovary (RPKM 27.3), endometrium (RPKM 25.8) and 25 other tissues See more
Orthologs

Genomic context

See CBX7 in Genome Data Viewer
Location:
22q13.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (39130772..39152680, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39526777..39548661, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene apolipoprotein B mRNA editing enzyme catalytic subunit 3H Neighboring gene cytochrome c oxidase subunit 5B pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 533 Neighboring gene FUN14 domain containing 2 pseudogene 4 Neighboring gene platelet derived growth factor subunit B

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
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
PRC1 complex ISS
Inferred from Sequence or Structural Similarity
more info
 
PcG protein complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
chromobox protein homolog 7

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_051974.1 RefSeqGene

    Range
    4971..26879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346743.2NP_001333672.1  chromobox protein homolog 7 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL031846, BU584870
    Conserved Domains (2) summary
    smart00298
    Location:1062
    CHROMO; Chromatin organization modifier domain
    pfam17218
    Location:208239
    CBX7_C; CBX family C-terminal motif
  2. NM_001346744.2NP_001333673.1  chromobox protein homolog 7 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AL031846, BU584870, BU584877, DQ064603
    Consensus CDS
    CCDS87028.1
    UniProtKB/TrEMBL
    B0QYP2, Q4PNR6
    Related
    ENSP00000384035.3, ENST00000401405.7
    Conserved Domains (2) summary
    pfam17218
    Location:116147
    CBX7_C; CBX family C-terminal motif
    cd18646
    Location:762
    CD_Cbx7; chromodomain of chromobox homolog 7
  3. NM_175709.5NP_783640.1  chromobox protein homolog 7 isoform 1

    See identical proteins and their annotated locations for NP_783640.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL031846, BC051773, BU584870, BU584877
    Consensus CDS
    CCDS13986.1
    UniProtKB/Swiss-Prot
    O95931
    UniProtKB/TrEMBL
    A0A024R1Q2
    Related
    ENSP00000216133.5, ENST00000216133.10
    Conserved Domains (2) summary
    smart00298
    Location:1062
    CHROMO; Chromatin organization modifier domain
    pfam17218
    Location:209240
    CBX7_C; CBX family C-terminal motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    39130772..39152680 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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