Gene Gene information from NCBI Gene database.
Entrez ID 1317
Gene name Solute carrier family 31 member 1
Gene symbol SLC31A1
Synonyms (NCBI Gene)
COPT1CTR1NSCT
Chromosome 9
Chromosome location 9q32
Summary The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]
miRNA miRNA information provided by mirtarbase database.
1098
miRTarBase ID miRNA Experiments Reference
MIRT030998 hsa-miR-21-5p Microarray 18591254
MIRT047052 hsa-miR-183-5p CLASH 23622248
MIRT666283 hsa-miR-3614-3p HITS-CLIP 23824327
MIRT666282 hsa-miR-8062 HITS-CLIP 23824327
MIRT666281 hsa-miR-6513-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Unknown 20159940
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis IMP 35027734
GO:0001525 Process Angiogenesis ISS
GO:0005375 Function Copper ion transmembrane transporter activity IDA 11734551, 16135512, 17525160, 19740744, 23658018
GO:0005375 Function Copper ion transmembrane transporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603085 11016 ENSG00000136868
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15431
Protein name High affinity copper uptake protein 1 (Copper transporter 1) (hCTR1) (Solute carrier family 31 member 1) [Cleaved into: Truncated CTR1 form]
Protein function [High affinity copper uptake protein 1]: Uniporter that mediates the transport of copper(1+) from the extracellular space to the cytoplasm, across the plasma membrane (PubMed:11734551, PubMed:16135512, PubMed:17525160, PubMed:19740744, PubMed:20
PDB 2LS2 , 2LS3 , 2LS4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04145 Ctr 45 175 Ctr copper transporter family Family
Sequence
Sequence length 190
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Platinum drug resistance
Mineral absorption
  Metal ion SLC transporters
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodegeneration and seizures due to copper transport defect Likely pathogenic; Pathogenic rs2490727959, rs2490728083 RCV003224626
RCV003159251
★★★★☆
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
CONGENITAL ABNORMALITIES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY CTD
★★☆☆☆
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
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 36973786 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 39396083 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 27797249 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 37324184 Stimulate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 37620966 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 23879689
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35996075, 37884650 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33146201 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37853210 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 23879689
★☆☆☆☆
Found in Text Mining only