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    COMMD10 COMM domain containing 10 [ Homo sapiens (human) ]

    Gene ID: 51397, updated on 27-Nov-2024

    Summary

    Official Symbol
    COMMD10provided by HGNC
    Official Full Name
    COMM domain containing 10provided by HGNC
    Primary source
    HGNC:HGNC:30201
    See related
    Ensembl:ENSG00000145781 MIM:616704; AllianceGenome:HGNC:30201
    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
    PTD002
    Summary
    Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.4), adrenal (RPKM 1.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COMMD10 in Genome Data Viewer
    Location:
    5q23.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (116085025..116293287)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (116597411..116805723)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (115420722..115628984)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22941 Neighboring gene DEAD-box helicase 43 pseudogene 1 Neighboring gene laeverin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22942 Neighboring gene ARF like GTPase 14 effector protein like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22944 Neighboring gene Sharpr-MPRA regulatory region 6 Neighboring gene MPRA-validated peak5429 silencer Neighboring gene ribosomal protein S25 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16257 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:115527171-115527671 Neighboring gene RNA, U6 small nuclear 644, pseudogene Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 27 Neighboring gene microRNA 12130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:115696405-115697201 Neighboring gene uncharacterized LOC101927190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16258 Neighboring gene SEMA6A antisense RNA 1 Neighboring gene semaphorin 6A

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
    EBI GWAS Catalog
    Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis.
    EBI GWAS Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11285

    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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    COMM domain-containing protein 10

    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_001308080.2NP_001295009.1  COMM domain-containing protein 10 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AW662195, BC005179, BI859871, DA001572
      Consensus CDS
      CCDS78049.1
      UniProtKB/TrEMBL
      D6RJ90
      Related
      ENSP00000427319.1, ENST00000515539.5
      Conserved Domains (1) summary
      cd04758
      Location:1187
      Commd10; COMM_Domain containing protein 10. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...
    2. NM_016144.4NP_057228.1  COMM domain-containing protein 10 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AW662195, BC005179, HY139221
      Consensus CDS
      CCDS34215.1
      UniProtKB/Swiss-Prot
      D3DT07, Q9P077, Q9Y6G5
      Related
      ENSP00000274458.4, ENST00000274458.9
      Conserved Domains (1) summary
      cd04758
      Location:15201
      Commd10; COMM_Domain containing protein 10. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...

    RNA

    1. NR_146218.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC109456, BC005179, DB300445, HY139221
    2. NR_146219.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon and an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC109456, BC005179, DB300445, HY134365
    3. NR_146220.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC109456, BC005179, DB300445, HY139221

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      116085025..116293287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      116597411..116805723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)