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

Gene ID: 170622, updated on 12-Oct-2019

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
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

Genomic context

See COMMD6 in Genome Data Viewer
Location:
13q22.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (75525214..75549439, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (76099350..76111991, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1078 Neighboring gene TBC1 domain family member 4 Neighboring gene ubiquitin C-terminal hydrolase L3 Neighboring gene LMO7 antisense RNA 1 Neighboring gene LIM domain 7 Neighboring gene family with sequence similarity 204 member C, pseudogene

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NF-kappaB binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NF-kappaB binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_001287392.1NP_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, BX106312, BX538116, DB574884, HY105279
    Conserved Domains (1) summary
    cl06336
    Location:156
    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_001287393.1NP_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, BC110837, BX106312, DB574884, HY045286, HY105279
    Conserved Domains (1) summary
    cl06336
    Location:156
    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_001287394.1NP_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, BX106312, DB489071, DB509325, DB574884
    Conserved Domains (1) summary
    cl06336
    Location:156
    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_203495.3NP_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, BC110837, BX106312, DB574884, HY105279
    Consensus CDS
    CCDS9451.1
    UniProtKB/Swiss-Prot
    Q7Z4G1
    Related
    ENSP00000385660.3, ENST00000406936.7
    Conserved Domains (1) summary
    cl06336
    Location:183
    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_203497.3NP_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, HY105279, W94914
    Consensus CDS
    CCDS9452.1
    UniProtKB/Swiss-Prot
    Q7Z4G1
    Related
    ENSP00000348054.4, ENST00000355801.4
    Conserved Domains (1) summary
    cl06336
    Location:196
    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: 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_000013.11 Reference GRCh38.p13 Primary Assembly

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