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    Commd1 COMM domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 17846, updated on 9-Dec-2024

    Summary

    Official Symbol
    Commd1provided by MGI
    Official Full Name
    COMM domain containing 1provided by MGI
    Primary source
    MGI:MGI:109474
    See related
    Ensembl:ENSMUSG00000051355 AllianceGenome:MGI:109474
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Murr1; U2/Mu
    Summary
    Predicted to enable several functions, including low-density lipoprotein particle receptor binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and phospholipid binding activity. Acts upstream of or within several processes, including cholesterol homeostasis; low-density lipoprotein particle clearance; and positive regulation of protein localization. Located in endosome. Is expressed in several structures, including central nervous system; extraembryonic component; future brain; limb bud; and otocyst. Orthologous to human COMMD1 (copper metabolism domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 10.4), CNS E11.5 (RPKM 10.2) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Commd1 in Genome Data Viewer
    Location:
    11 A3.2; 11 14.22 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (22849728..22934539, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (22899728..22984539, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_28890 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:22753904-22754057 Neighboring gene predicted gene, 24917 Neighboring gene STARR-seq mESC enhancer starr_28892 Neighboring gene STARR-positive B cell enhancer ABC_E3935 Neighboring gene STARR-seq mESC enhancer starr_28894 Neighboring gene zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2, pseudogene 1 Neighboring gene STARR-positive B cell enhancer ABC_E10666 Neighboring gene STARR-seq mESC enhancer starr_28896 Neighboring gene STARR-seq mESC enhancer starr_28897 Neighboring gene STARR-positive B cell enhancer ABC_E9817 Neighboring gene chaperonin containing TCP1 subunit 4 Neighboring gene family with sequence similarity 161, member A Neighboring gene STARR-seq mESC enhancer starr_28898

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables copper ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables copper ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables low-density lipoprotein particle receptor binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables phosphatidic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3,4,5-trisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3,4-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables sodium channel inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cholesterol homeostasis ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in copper ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within copper ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in copper ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in copper ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within intracellular copper ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within low-density lipoprotein particle clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of NF-kappaB transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in negative regulation of NF-kappaB transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of NF-kappaB transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of hypoxia-inducible factor-1alpha signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein localization to cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of protein localization to cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of sodium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nucleotide-excision repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in plasma membrane to endosome transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of cholesterol import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of endosome to plasma membrane protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of protein localization to cell surface IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of protein localization to cell surface IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of plasma lipoprotein particle levels IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of Cul2-RING ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of Cul2-RING ubiquitin ligase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in recycling endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in recycling endosome ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    COMM domain-containing protein 1
    Names
    U2af1-rs1 region 1
    copper metabolism domain containing 1
    protein Murr1

    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_001361661.1NP_001348590.1  COMM domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL772364, BB053099, BU582903, CX567872
      UniProtKB/TrEMBL
      Q3UGT3
      Conserved Domains (1) summary
      cl06336
      Location:1119
      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_144514.2NP_653097.2  COMM domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_653097.2

      Status: VALIDATED

      Source sequence(s)
      AK133507, BB053099, BY337798
      Consensus CDS
      CCDS24472.1
      UniProtKB/Swiss-Prot
      Q3V012, Q80WG2, Q80Z41, Q8BNL9, Q8K2S9, Q8K4M5
      UniProtKB/TrEMBL
      A2RSF1
      Related
      ENSMUSP00000124719.2, ENSMUST00000159081.8
      Conserved Domains (1) summary
      cd04749
      Location:11184
      Commd1_MURR1; COMM_Domain containing protein 1, also called Murr1. Murr1/Commd1 is a protein involved in copper homeostasis, which has also been identified as a regulator of the human delta epithelial sodium channel. The COMM Domain is found at the C-terminus of a ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      22849728..22934539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514563.4XP_006514626.1  COMM domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      F7BZY0
      Related
      ENSMUSP00000090958.6, ENSMUST00000093270.6
      Conserved Domains (1) summary
      cd04749
      Location:11156
      Commd1_MURR1; COMM_Domain containing protein 1, also called Murr1. Murr1/Commd1 is a protein involved in copper homeostasis, which has also been identified as a regulator of the human delta epithelial sodium channel. The COMM Domain is found at the C-terminus of a ...
    2. XM_017314316.3XP_017169805.1  COMM domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      Q8VI86
      Related
      ENSMUSP00000053606.6, ENSMUST00000057843.12
      Conserved Domains (1) summary
      cd04749
      Location:140266
      Commd1_MURR1; COMM_Domain containing protein 1, also called Murr1. Murr1/Commd1 is a protein involved in copper homeostasis, which has also been identified as a regulator of the human delta epithelial sodium channel. The COMM Domain is found at the C-terminus of a ...