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

    Gene ID: 170622, updated on 10-Dec-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (29 hits/1270 screens)

    EBI GWAS Catalog

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

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NF-kappaB binding  
    enables NF-kappaB binding PubMed 
    enables protein binding PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm  
    located_in nucleus  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

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