Gene Gene information from NCBI Gene database.
Entrez ID 26507
Gene name Cyclin and CBS domain divalent metal cation transport mediator 1
Gene symbol CNNM1
Synonyms (NCBI Gene)
ACDP1CLP-1SLC70A1
Chromosome 10
Chromosome location 10q24.2
Summary This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
miRNA miRNA information provided by mirtarbase database.
239
miRTarBase ID miRNA Experiments Reference
MIRT899915 hsa-miR-1237 CLIP-seq
MIRT899916 hsa-miR-1245 CLIP-seq
MIRT899917 hsa-miR-1248 CLIP-seq
MIRT899918 hsa-miR-125a-5p CLIP-seq
MIRT899919 hsa-miR-125b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27880917, 28330616, 32296183, 33961781
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0006811 Process Monoatomic ion transport IEA
GO:0010960 Process Magnesium ion homeostasis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607802 102 ENSG00000119946
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRU3
Protein name Metal transporter CNNM1 (Ancient conserved domain-containing protein 1) (Cyclin-M1)
Protein function Probable metal transporter.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01595 DUF21 227 414 Cyclin M transmembrane N-terminal domain Domain
PF00571 CBS 498 562 CBS domain Domain
Tissue specificity TISSUE SPECIFICITY: Restricted to brain and testis. {ECO:0000269|PubMed:12657465}.
Sequence
MAAAAAAAAAVGVRLRDCCSRGAVLLLFFSLSPRPPAAAAWLLGLRPEDTAGGRVSLEGG
TLRAAEGTSFLLRVYFQPGPPATAAPVPSPTLNSGENGTGDWAPRLVFIEEPPGGGGVAP
SAVPTRPPGPQRCREQSDWASDVEVLGPLRPGGVAGSALVQVRVRELRKGEAERGGAGGG
GKLFSLCAWDGRAWHHHGAAGGFLLRVRPRLYGPGGDLLPPAWLRALGALLLLALSALFS
GLRLSLLSLDPVELRVLRNSGSAAEQEQARRVQAVRGRGTHLLCTLLLGQAGANAALAGW
LYTSLPPGFGGTGEDYSEEGIHFPWLPALVCTGAVFLGAEICPYSVCSRHGLAIASHSVC
LTRLLMAAAFPVCYPLGRLLDWALRQEISTFYTREKLLETLRAADPYSDLVKEE
LNIIQG
ALELRTKVVEEVLTPLGDCFMLRSDAVLDFATVSEILRSGYTRIPVYEGDQRHNIVDILF
VKDLAFVDPDDCTPLLTVTRFYNRPLHCVFNDTRLDTVLEEFKKGKSHLAIVQRVNNEGE
GDPFYEVMGIVTLEDIIEEIIK
SEILDETDLYTDNRKKQRVPQRERKRHDFSLFKLSDTE
MRVKISPQLLLATHRFMATEVEPFKSLYLSEKILLRLLKHPNVIQELKFDEKNKKAPEHY
LYQRNRPVDYFVLLLQGKVEVEVGKEGLRFENGAFTYYGVPAIMTTACSDNDVRKVGSLA
GSSVFLNRSPSRCSGLNRSESPNRERSDFGGSNTQLYSSSNNLYMPDYSVHILSDVQFVK
ITRQQYQNALTACHMDSSPQSPDMEAFTDGDSTKAPTTRGTPQTPKDDPAITLLNNRNSL
PCSRSDGLRSPSEVVYLRMEELAFTQEEMTDFEEHSTQQLTLSPAAVPTRAASDSECCNI
NLDTETSPCSSDFEENVGKKLLRTLSGQKRKRSPEGERTSEDNSNLTPLIT
Sequence length 951
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Breast ductal adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 25733456 Inhibit
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 25733456 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 25733456
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 37192718 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 37192718 Associate
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 36446526 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 30486934
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma CTD_human_DG 16778180
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Myopathy Myopathy BEFREE 22479198
★☆☆☆☆
Found in Text Mining only
Ochoa syndrome Ochoa Syndrome BEFREE 12707951
★☆☆☆☆
Found in Text Mining only