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

Summary

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

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_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

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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 EBI GWAS CatalogPubMed

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

RH103836 (e-PCR)
- UniSTS:98161

NoName (e-PCR)
- UniSTS:490364

RH99040 (e-PCR)
- UniSTS:89582

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)

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 ...
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 ...
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 ...
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 ...
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 ...