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COMMD6 COMM domain containing 6 [ Homo sapiens (human) ]

Gene ID: 170622, updated on 2-Nov-2024

Summary

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Official Symbol
COMMD6provided by HGNC
Official Full Name
COMM domain containing 6provided by HGNC
Primary source
HGNC:HGNC:24015
See related
Ensembl:ENSG00000188243 MIM:612377; AllianceGenome:HGNC:24015
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Acrg
Summary
COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006 [PubMed 16573520]).[supplied by OMIM, Mar 2009]
Expression
Ubiquitous expression in ovary (RPKM 31.5), adrenal (RPKM 27.0) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See COMMD6 in Genome Data Viewer
Location:
13q22.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (75525214..75549439, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (74748878..74773100, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (76099350..76123575, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7821 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:75899800-75900999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7822 Neighboring gene TBC1 domain family member 4 Neighboring gene Sharpr-MPRA regulatory region 11619 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:75935886-75936406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7830 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:76123825-76124385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7831 Neighboring gene ubiquitin C-terminal hydrolase L3 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:76200739-76200877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5405 Neighboring gene LMO7 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7834 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:76259126-76259626 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:76259627-76260127 Neighboring gene LIM domain 7 Neighboring gene family with sequence similarity 204 member C, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Prognosis and modulation mechanisms of COMMD6 in human tumours based on expression profiling and comprehensive bioinformatics analysis. Yang M, et al. Br J Cancer, 2019 Oct. PMID 31523056, Free PMC Article
  2. Genome-wide association study in a Chinese population with diabetic retinopathy. Sheu WH, et al. Hum Mol Genet, 2013 Aug 1. PMID 23562823, Free PMC Article
  3. COMMD7 as a novel NEMO interacting protein involved in the termination of NF-κB signaling. Esposito E, et al. J Cell Physiol, 2016 Jan. PMID 26060140
  4. Candidate genes required for embryonic development: a comparative analysis of distal mouse chromosome 14 and human chromosome 13q22. Kurihara LJ, et al. Genomics, 2002 Feb. PMID 11829485
  5. Characterization of COMMD protein-protein interactions in NF-kappaB signalling. de Bie P, et al. Biochem J, 2006 Aug 15. PMID 16573520, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. COMMD6 expression was widely observed in human tissues. COMMD6 may modulate the ubiquitination and degradation of NF-kappaB subunits and regulate ribonucleoprotein and spliceosome complex biogenesis in tumours. COMMD6 expression is increased in some cancers, and decreased in others, implying that different mechanisms are involved in the regulation of COMMD6 expression in the development of human tissues.
    Title: Prognosis and modulation mechanisms of COMMD6 in human tumours based on expression profiling and comprehensive bioinformatics analysis.
  2. These data support the significance of COMMD protein-protein interactions and provide new mechanistic insight into the function of this protein family in NF-kappaB signalling.
    Title: Characterization of COMMD protein-protein interactions in NF-kappaB signalling.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study in a Chinese population with diabetic retinopathy.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NF-kappaB binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables NF-kappaB binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within negative regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
COMM domain-containing protein 6
Names
Acrg embryonic lethality minimal region ortholog

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.

mRNA and Protein(s)

  1. NM_001287392.2 → NP_001274321.1  COMM domain-containing protein 6 isoform c

    See identical proteins and their annotated locations for NP_001274321.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) is alternatively spliced in the 5' region (which results in translation initiation from an in-frame downstream start codon) and lacks an in-frame coding exon in the 3' region compared to variant 1. The resulting isoform (c) has a shorter N-terminus and lacks a 13 aa protein segment compared to isoform 1. Variants 3-5 encode the same isoform.
    Source sequence(s)
    AA425275, AL137244, BX106312, BX538116, DB574884, HY105279
    Conserved Domains (1) summary
    cl06336
    Location:1 → 56
    Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...

  2. NM_001287393.2 → NP_001274322.1  COMM domain-containing protein 6 isoform c

    See identical proteins and their annotated locations for NP_001274322.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) is alternatively spliced in the 5' region (which results in translation initiation from an in-frame downstream start codon) and lacks an in-frame coding exon in the 3' region compared to variant 1. The resulting isoform (c) has a shorter N-terminus and lacks a 13 aa protein segment compared to isoform 1. Variants 3-5 encode the same isoform.
    Source sequence(s)
    AA425275, AL137244, BC110837, BX106312, DB574884, HY045286, HY105279
    Conserved Domains (1) summary
    cl06336
    Location:1 → 56
    Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...

  3. NM_001287394.2 → NP_001274323.1  COMM domain-containing protein 6 isoform c

    See identical proteins and their annotated locations for NP_001274323.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains a novel 5' terminal exon, lacks 2 exons in the 5' region (which result in translation initiation from an in-frame downstream start codon) and an in-frame coding exon in the 3' region compared to variant 1. The resulting isoform (c) has a shorter N-terminus and lacks a 13 aa protein segment compared to isoform 1. Variants 3-5 encode the same isoform.
    Source sequence(s)
    AA425275, AL137244, BX106312, DB489071, DB509325, DB574884
    Conserved Domains (1) summary
    cl06336
    Location:1 → 56
    Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...

  4. NM_203495.4 → NP_987091.1  COMM domain-containing protein 6 isoform b

    See identical proteins and their annotated locations for NP_987091.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon in the 3' region compared to variant 1. The resulting shorter isoform (b) lacks a 13 aa protein segment compared to isoform 1.
    Source sequence(s)
    AA425275, AL137244, BC110837, BX106312, DB574884, HY105279
    Consensus CDS
    CCDS9451.1
    UniProtKB/Swiss-Prot
    A6NF28, B7ZLN0, Q5TBK4, Q7Z4G1
    Related
    ENSP00000506987.1, ENST00000682242.1
    Conserved Domains (1) summary
    cl06336
    Location:1 → 83
    Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...

  5. NM_203497.4 → NP_987093.1  COMM domain-containing protein 6 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AA425275, BC110837, BX106312, DB574884, HY028175, W94914
    Consensus CDS
    CCDS9452.1
    UniProtKB/Swiss-Prot
    Q7Z4G1
    Related
    ENSP00000348054.4, ENST00000355801.4
    Conserved Domains (1) summary
    cl06336
    Location:1 → 96
    Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...

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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    75525214..75549439 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    74748878..74773100 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374149.1 → XP_054230124.1  COMM domain-containing protein 6 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z4G1.1 GenPept UniProtKB/Swiss-Prot:Q7Z4G1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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