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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodegeneration and seizures due to copper transport defect Likely pathogenic; Pathogenic rs2490727959, rs2490728083 RCV003224626
RCV003159251
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 28640195
Adenocarcinoma of Lung Inhibit 37853210
Adrenocortical Carcinoma Associate 36973786
Alzheimer Disease Associate 39396083
Anemia Associate 27797249
Atherosclerosis Stimulate 37324184
Atrial Fibrillation Associate 37620966
Breast Neoplasms Associate 35996075, 37884650
Carcinoma Hepatocellular Associate 33146201
Carcinoma Hepatocellular Inhibit 37853210