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CBX7 chromobox 7 [ Homo sapiens (human) ]

Gene ID: 23492, updated on 2-Nov-2024

Summary

Official Symbol
CBX7provided by HGNC
Official Full Name
chromobox 7provided by HGNC
Primary source
HGNC:HGNC:1557
See related
Ensembl:ENSG00000100307 MIM:608457; AllianceGenome:HGNC:1557
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
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Genomic context

See CBX7 in Genome Data Viewer
Location:
22q13.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (39130772..39152680, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39601155..39623071, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39526777..39548685, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:39492371-39493570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39493781-39494667 Neighboring gene apolipoprotein B mRNA editing enzyme catalytic subunit 3H Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39509973-39510947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13742 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39527431-39527992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39529632-39530316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39530317-39531000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39531107-39532084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39540727-39541516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39544030-39544628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39544629-39545227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39548263-39548844 Neighboring gene FUN14 domain containing 2 pseudogene 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39567703-39568508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39569521-39570190 Neighboring gene Sharpr-MPRA regulatory region 8665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39601000-39601939 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39605384-39605884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39609067-39609686 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39609687-39610305 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:39610322-39611521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39612165-39612782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39632330-39633224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39633225-39634119 Neighboring gene platelet derived growth factor subunit B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13747

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

EBI GWAS Catalog

Description
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of PRC1 complex ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of PcG protein complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of PcG protein complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
chromobox protein homolog 7

NCBI Reference Sequences (RefSeq)

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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
    cd18646
    Location:762
    CD_Cbx7; chromodomain of chromobox homolog 7
    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
    cd18646
    Location:762
    CD_Cbx7; chromodomain of chromobox homolog 7
    pfam17218
    Location:116147
    CBX7_C; CBX family C-terminal motif
  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, Q86T17
    Related
    ENSP00000216133.5, ENST00000216133.10
    Conserved Domains (2) summary
    cd18646
    Location:762
    CD_Cbx7; chromodomain of chromobox homolog 7
    pfam17218
    Location:209240
    CBX7_C; CBX family C-terminal motif

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    39601155..39623071 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)