Homo sapiens Protein: CNNM4
Summary
InnateDB Protein IDBP-61886.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CNNM4
Protein Name cyclin M4
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000366275
InnateDB Gene IDBG-61884 (CNNM4)
Protein Structure
UniProt Annotation
Function Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function. {ECO:0000250, ECO:0000269PubMed:19200525, ECO:0000269PubMed:19200527}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:22399287}; Multi-pass membrane protein {ECO:0000269PubMed:22399287}.
Disease Associations Jalili syndrome (JALIS) [MIM:217080]: A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta. {ECO:0000269PubMed:19200525, ECO:0000269PubMed:19200527}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. Highly expressed in heart. {ECO:0000269PubMed:12657465}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0030554 adenyl nucleotide binding
Biological Process
GO:0006811 ion transport
GO:0007601 visual perception
GO:0031214 biomineral tissue development
GO:0050896 response to stimulus
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR000595 Cyclic nucleotide-binding domain
IPR000644 CBS domain
IPR002550 Domain of unknown function DUF21
IPR018490 Cyclic nucleotide-binding-like
PFAM PF00027
PF00571
PF01595
PRINTS
PIRSF
SMART SM00100
SM00116
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6P4Q7
PhosphoSite PhosphoSite-Q6P4Q7
TrEMBL
UniProt Splice Variant
Entrez Gene 26504
UniGene Hs.175043
RefSeq NP_064569
HUGO HGNC:105
OMIM 607805
CCDS CCDS2024
HPRD 07420
IMGT
EMBL AB046812 AC092636 AF202777 AK022833 AK293915 BC063295 FJ619522 FJ619523 FJ619524
GenPept AAF86370 AAH63295 AAY14963 ACV32670 ACV32671 ACV32672 BAB13418 BAB14266 BAH11626