• Gene id: 150684

Gene Summary

• Gene Symbol: COMMD1   Gene   UCSC   Ensembl
• Aliases: C2orf5, MURR1
• Gene name: copper metabolism domain containing 1
• Alternate names: COMM domain-containing protein 1, copper metabolism (Murr1) domain containing 1, copper metabolism gene MURR1, protein Murr1,
• Gene location: 2p15 (61888390: 62141185)     Exons: 19     NC_000002.12
• Gene summary(Entrez): COMMD1 is a regulator of copper homeostasis, sodium uptake, and NF-kappa-B (see MIM 164011) signaling (de Bie et al., 2005 [PubMed 16267171]).[supplied by OMIM, Sep 2009]
• OMIM: 607238

Protein Summary

• Protein general information: Q8N668  
  • Name: COMM domain containing protein 1 (Protein Murr1)
  • Length: 190  
  • Mass: 21178
  • Tissue specificity: Ubiquitous. Highest expression in the liver, with lower expression in brain, lung, placenta, pancreas, small intestine, heart, skeletal muscle, kidney and placenta. Down-regulated in cancer tissues. {ECO
• Sequence:

  MAAGELEGGKPLSGLLNALAQDTFHGYPGITEELLRSQLYPEVPPEEFRPFLAKMRGILKSIASADMDFNQLEAF
  LTAQTKKQGGITSDQAAVISKFWKSHKTKIRESLMNQSRWNSGLRGLSWRVDGKSQSRHSAQIHTPVAIIELELG
  KYGQESEFLCLEFDEVKVNQILKTLSEVEESISTLISQPN

• Structural information:
  • Protein Domains: (118..18-)
    (/note="COMM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00602"-)
  • Interpro: IPR017920  IPR033776  IPR037351  
  • Prosite: PS51269
  • CDD: cd04749
  • PDB: 2H2M
  • PDBsum: 2H2M
  • STRING: ENSP00000308236
• Other Databases: GeneCards:  COMMD1  Malacards:  COMMD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006289	nucleotide-excision repair	IMP	biological process
GO:0031398	positive regulation of protein ubiquitination	IBA	biological process
GO:0032434	regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0055070	copper ion homeostasis	IBA	biological process
GO:2000009	negative regulation of protein localization to cell surface	IBA	biological process
GO:0005768	endosome	IBA	cellular component
GO:1902306	negative regulation of sodium ion transmembrane transport	IBA	biological process
GO:0005507	copper ion binding	IDA	molecular function
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IDA	molecular function
GO:0055037	recycling endosome	IDA	cellular component
GO:0048227	plasma membrane to endosome transport	IDA	biological process
GO:1902306	negative regulation of sodium ion transmembrane transport	IDA	biological process
GO:0055070	copper ion homeostasis	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0031462	Cul2-RING ubiquitin ligase complex	IDA	cellular component
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IDA	molecular function
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function
GO:0070300	phosphatidic acid binding	IDA	molecular function
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:2000009	negative regulation of protein localization to cell surface	IDA	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0006893	Golgi to plasma membrane transport	IMP	biological process
GO:1902306	negative regulation of sodium ion transmembrane transport	IMP	biological process
GO:0032434	regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055070	copper ion homeostasis	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0019871	sodium channel inhibitor activity	IDA	molecular function
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010008	endosome membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray