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    COMMD5 COMM domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 28991, updated on 27-Nov-2024

    Summary

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    Official Symbol
    COMMD5provided by HGNC
    Official Full Name
    COMM domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:17902
    See related
    Ensembl:ENSG00000170619 MIM:608216; AllianceGenome:HGNC:17902
    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
    HCARG; HT002
    Summary
    Predicted to be involved in proximal tubule morphogenesis. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.8), spleen (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COMMD5 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144837978..144853556, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (146011722..146054961, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (146075561..146078941, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19709 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146018867-146019815 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146021109-146022007 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146022008-146022906 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146024705-146025602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146025603-146026501 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146026502-146027399 Neighboring gene microRNA 6850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28105 Neighboring gene ribosomal protein L8 Neighboring gene uncharacterized LOC100130027 Neighboring gene zinc finger protein 517 Neighboring gene hESC enhancers GRCh37_chr8:146052597-146053122 and GRCh37_chr8:146053123-146053648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146053649-146054174 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:146064238-146064791 Neighboring gene zinc finger protein 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:146076290-146076441 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:146077648-146078496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28109 Neighboring gene zinc finger protein 250 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:146126184-146126788 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:146126789-146127391 Neighboring gene uncharacterized LOC124902042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146127392-146127995 Neighboring gene zinc finger protein 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19717

    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
    • 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. COMMD5 Inhibits Malignant Behavior of Renal Cancer Cells. Ikeda J, et al. Anticancer Res, 2021 Jun. PMID 34083270
    2. HCaRG accelerates tubular repair after ischemic kidney injury. Matsuda H, et al. J Am Soc Nephrol, 2011 Nov. PMID 21921141, Free PMC Article
    3. HCaRG, a novel calcium-regulated gene coding for a nuclear protein, is potentially involved in the regulation of cell proliferation. Solban N, et al. J Biol Chem, 2000 Oct 13. PMID 10918053
    4. Rosiglitazone suppresses gastric carcinogenesis by up-regulating HCaRG expression. Chen BL, et al. Oncol Rep, 2008 Nov. PMID 18949406
    5. COMMD5/HCaRG Hooks Endosomes on Cytoskeleton and Coordinates EGFR Trafficking. Campion CG, et al. Cell Rep, 2018 Jul 17. PMID 30021164

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. COMMD5 Inhibits Malignant Behavior of Renal Cancer Cells.
      Title: COMMD5 Inhibits Malignant Behavior of Renal Cancer Cells.
    2. COMMD5 participates in long-range endosome transport, including epidermal growth factor receptor (EGFR) recycling, and provides the strength to deform and assist the scission of vesicles into sorting endosomes.
      Title: COMMD5/HCaRG Hooks Endosomes on Cytoskeleton and Coordinates EGFR Trafficking.
    3. the hypertension-related, calcium-regulated gene (HCaRG/COMMD5) is involved in renal repair.
      Title: Hypertension-related, calcium-regulated gene (HCaRG/COMMD5) and kidney diseases: HCaRG accelerates tubular repair.
    4. HCaRG accelerates repair of renal proximal tubules by modulating cell proliferation of resident tubular epithelial cells and by facilitating redifferentiation.
      Title: HCaRG accelerates tubular repair after ischemic kidney injury.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide linkage scans for type 2 diabetes mellitus in four ethnically diverse populations-significant evidence for linkage on chromosome 4q in African Americans: the Family Investigation of Nephropathy and Diabetes Research Group.
    6. The up-regulation of HCaRG may be one of the mechanisms underlying the chemopreventive effect of rosiglitazone in gastric cancer.
      Title: Rosiglitazone suppresses gastric carcinogenesis by up-regulating HCaRG expression.
    7. The gene for human HCaRG is located on chromosome 8q24.3.
      Title: Chromosomal mapping of HCaRG, a novel hypertension-related, calcium-regulated gene.
    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

    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

    Clone Names

    • FLJ13008, MGC72046

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    COMM domain-containing protein 5
    Names
    hypertension-related calcium-regulated gene protein

    NCBI Reference Sequences (RefSeq)

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    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_001081003.3 → NP_001074472.1  COMM domain-containing protein 5

      See identical proteins and their annotated locations for NP_001074472.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 4. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AW137480, BC002672, BI753202, BU600590
      Consensus CDS
      CCDS6436.1
      UniProtKB/Swiss-Prot
      D3DWN7, Q9GZQ3, Q9NVN6, Q9UHX5
      Related
      ENSP00000394331.2, ENST00000450361.2
      Conserved Domains (1) summary
      cd04753
      Location:115 → 224
      Commd5_HCaRG; COMM_Domain containing protein 5, also called HCaRG (hypertension-related, calcium-regulated gene). HCaRG is a nuclear protein that might be involved in cell proliferation; it is negatively regulated by extracellular calcium concentration, and its basal ...

    2. NM_001081004.3 → NP_001074473.1  COMM domain-containing protein 5

      See identical proteins and their annotated locations for NP_001074473.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 4. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AW137480, BC002672, BQ680339
      Consensus CDS
      CCDS6436.1
      UniProtKB/Swiss-Prot
      D3DWN7, Q9GZQ3, Q9NVN6, Q9UHX5
      Related
      ENSP00000385793.3, ENST00000402718.4
      Conserved Domains (1) summary
      cd04753
      Location:115 → 224
      Commd5_HCaRG; COMM_Domain containing protein 5, also called HCaRG (hypertension-related, calcium-regulated gene). HCaRG is a nuclear protein that might be involved in cell proliferation; it is negatively regulated by extracellular calcium concentration, and its basal ...

    3. NM_001287237.2 → NP_001274166.1  COMM domain-containing protein 5

      See identical proteins and their annotated locations for NP_001274166.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AW137480, BC003055, BM013651, BQ680339
      Consensus CDS
      CCDS6436.1
      UniProtKB/Swiss-Prot
      D3DWN7, Q9GZQ3, Q9NVN6, Q9UHX5
      Related
      ENSP00000445840.2, ENST00000543949.2
      Conserved Domains (1) summary
      cd04753
      Location:115 → 224
      Commd5_HCaRG; COMM_Domain containing protein 5, also called HCaRG (hypertension-related, calcium-regulated gene). HCaRG is a nuclear protein that might be involved in cell proliferation; it is negatively regulated by extracellular calcium concentration, and its basal ...

    4. NM_014066.4 → NP_054785.2  COMM domain-containing protein 5

      See identical proteins and their annotated locations for NP_054785.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 4. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AW137480, BC065729, BG705627
      Consensus CDS
      CCDS6436.1
      UniProtKB/Swiss-Prot
      D3DWN7, Q9GZQ3, Q9NVN6, Q9UHX5
      Related
      ENSP00000304544.3, ENST00000305103.4
      Conserved Domains (1) summary
      cd04753
      Location:115 → 224
      Commd5_HCaRG; COMM_Domain containing protein 5, also called HCaRG (hypertension-related, calcium-regulated gene). HCaRG is a nuclear protein that might be involved in cell proliferation; it is negatively regulated by extracellular calcium concentration, and its basal ...

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144837978..144853556 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_002956629.2 RNA Sequence

    2. XR_002956628.2 RNA Sequence

    3. XR_007060730.1 RNA Sequence

    4. XR_928321.4 RNA Sequence

    5. XR_007060731.1 RNA Sequence

    6. XR_428379.4 RNA Sequence

    7. XR_928323.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      146011722..146054961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360356.1 → XP_054216331.1  COMM domain-containing protein 5 isoform X1

    2. XM_054360353.1 → XP_054216328.1  COMM domain-containing protein 5 isoform X1

    3. XM_054360355.1 → XP_054216330.1  COMM domain-containing protein 5 isoform X1

    4. XM_054360354.1 → XP_054216329.1  COMM domain-containing protein 5 isoform X1

    5. XM_054360360.1 → XP_054216335.1  COMM domain-containing protein 5 isoform X1

    6. XM_054360357.1 → XP_054216332.1  COMM domain-containing protein 5 isoform X1

    7. XM_054360351.1 → XP_054216326.1  COMM domain-containing protein 5 isoform X1

    8. XM_054360361.1 → XP_054216336.1  COMM domain-containing protein 5 isoform X1

    9. XM_054360358.1 → XP_054216333.1  COMM domain-containing protein 5 isoform X1

    10. XM_054360352.1 → XP_054216327.1  COMM domain-containing protein 5 isoform X1

    11. XM_054360359.1 → XP_054216334.1  COMM domain-containing protein 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZQ3.1 GenPept UniProtKB/Swiss-Prot:Q9GZQ3

    Gene LinkOut

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

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