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] See more...

Aliases for SLC31A1 Gene

Aliases for SLC31A1 Gene

  • Solute Carrier Family 31 Member 1 2 3 4 5
  • CTR1 2 3 4
  • Solute Carrier Family 31 (Copper Transporter), Member 1 2 3
  • High Affinity Copper Uptake Protein 1 3 4
  • Copper Transporter 1 3 4
  • COPT1 3 4
  • HCTR1 2 4
  • Solute Carrier Family 31 (Copper Transporters), Member 1 3
  • Copper Transport 1 Homolog 3
  • SLC31A1 5

External Ids for SLC31A1 Gene

Previous HGNC Symbols for SLC31A1 Gene

  • COPT1

Previous GeneCards Identifiers for SLC31A1 Gene

  • GC09P106782
  • GC09P107716
  • GC09P109437
  • GC09P111359
  • GC09P113063
  • GC09P115023
  • GC09P115983
  • GC09P085591

Summaries for SLC31A1 Gene

Entrez Gene Summary for SLC31A1 Gene

  • 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]

GeneCards Summary for SLC31A1 Gene

SLC31A1 (Solute Carrier Family 31 Member 1) is a Protein Coding gene. Diseases associated with SLC31A1 include Wilson Disease and Menkes Disease. Among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and Platinum drug resistance. Gene Ontology (GO) annotations related to this gene include copper ion transmembrane transporter activity. An important paralog of this gene is SLC31A2.

UniProtKB/Swiss-Prot Summary for SLC31A1 Gene

  • High-affinity, saturable copper transporter involved in dietary copper uptake.

Gene Wiki entry for SLC31A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC31A1 Gene

Genomics for SLC31A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC31A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC31A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC31A1

Top Transcription factor binding sites by QIAGEN in the SLC31A1 gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • PPAR-alpha
  • SRF
  • SRF (504 AA)

Genomic Locations for SLC31A1 Gene

Genomic Locations for SLC31A1 Gene
chr9:113,221,544-113,264,492
(GRCh38/hg38)
Size:
42,949 bases
Orientation:
Plus strand
chr9:115,983,808-116,028,674
(GRCh37/hg19)
Size:
44,867 bases
Orientation:
Plus strand

Genomic View for SLC31A1 Gene

Genes around SLC31A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC31A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC31A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC31A1 Gene

Proteins for SLC31A1 Gene

  • Protein details for SLC31A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15431-COPT1_HUMAN
    Recommended name:
    High affinity copper uptake protein 1
    Protein Accession:
    O15431
    Secondary Accessions:
    • A8K8Z6
    • Q53GR5
    • Q5T1M4

    Protein attributes for SLC31A1 Gene

    Size:
    190 amino acids
    Molecular mass:
    21091 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for SLC31A1 Gene

neXtProt entry for SLC31A1 Gene

Post-translational modifications for SLC31A1 Gene

  • O-Glycosylation at Thr-27 protects from proteolytic cleavage in the N-terminal extracellular domain.
  • Glycosylation at Asn15 and Thr27
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC31A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC31A1 Gene

Domains & Families for SLC31A1 Gene

Gene Families for SLC31A1 Gene

Protein Domains for SLC31A1 Gene

InterPro:
Blocks:
  • Ctr copper transporter
ProtoNet:

Suggested Antigen Peptide Sequences for SLC31A1 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 31 member 1 (COPT1_HUMAN)
  • SLC31A1 protein (Q6P708_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15431

UniProtKB/Swiss-Prot:

COPT1_HUMAN :
  • Belongs to the copper transporter (Ctr) (TC 1.A.56) family. SLC31A subfamily.
Family:
  • Belongs to the copper transporter (Ctr) (TC 1.A.56) family. SLC31A subfamily.
genes like me logo Genes that share domains with SLC31A1: view

Function for SLC31A1 Gene

Molecular function for SLC31A1 Gene

UniProtKB/Swiss-Prot Function:
High-affinity, saturable copper transporter involved in dietary copper uptake.
GENATLAS Biochemistry:
solute carrier family 31,copper uptake transport,high affinity,homolog to yeast ctr1,see D9S262,ubiquitously expressed

Phenotypes From GWAS Catalog for SLC31A1 Gene

Gene Ontology (GO) - Molecular Function for SLC31A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005375 copper ion transmembrane transporter activity TAS --
GO:0042802 identical protein binding IPI 16501047
genes like me logo Genes that share ontologies with SLC31A1: view
genes like me logo Genes that share phenotypes with SLC31A1: view

Animal Models for SLC31A1 Gene

MGI Knock Outs for SLC31A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC31A1

CRISPR Products

miRNA for SLC31A1 Gene

miRTarBase miRNAs that target SLC31A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC31A1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC31A1 Gene

Localization for SLC31A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC31A1 Gene

Cell membrane. Multi-pass membrane protein. Note=Localizes to the apical membrane in intestinal epithelial cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC31A1 gene
Compartment Confidence
plasma membrane 5
endosome 3
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC31A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005770 late endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9207117
genes like me logo Genes that share ontologies with SLC31A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC31A1 Gene

Pathways & Interactions for SLC31A1 Gene

genes like me logo Genes that share pathways with SLC31A1: view

Pathways by source for SLC31A1 Gene

Gene Ontology (GO) - Biological Process for SLC31A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006825 copper ion transport TAS 9207117
GO:0006878 cellular copper ion homeostasis IBA 21873635
GO:0015677 copper ion import IEA --
GO:0035434 copper ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC31A1: view

No data available for SIGNOR curated interactions for SLC31A1 Gene

Drugs & Compounds for SLC31A1 Gene

(8) Drugs for SLC31A1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carboplatin Approved Pharma Transporter, substrate Antitumor agent that forms platinum-DNA adducts., Platinum 2588
Cisplatin Approved Pharma Transporter, substrate Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3412
Copper Approved, Investigational Pharma Transporter, substrate 249
Oxaliplatin Approved, Investigational Pharma Transporter, substrate Antitumor agent, Platinum 1944
Bortezomib Approved, Investigational Pharma Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 910
genes like me logo Genes that share compounds with SLC31A1: view

Transcripts for SLC31A1 Gene

mRNA/cDNA for SLC31A1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC31A1

Alternative Splicing Database (ASD) splice patterns (SP) for SLC31A1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP1: - -
SP2: -
SP3: - - -
SP4:

Relevant External Links for SLC31A1 Gene

GeneLoc Exon Structure for
SLC31A1

Expression for SLC31A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC31A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC31A1 Gene

This gene is overexpressed in Liver (x6.0).

Protein differential expression in normal tissues from HIPED for SLC31A1 Gene

This gene is overexpressed in Nasal epithelium (62.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC31A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC31A1

SOURCE GeneReport for Unigene cluster for SLC31A1 Gene:

Hs.532315

Evidence on tissue expression from TISSUES for SLC31A1 Gene

  • Liver(4.6)
  • Lung(4.4)
  • Muscle(4.3)
  • Nervous system(3.3)
  • Kidney(2.7)
  • Intestine(2.5)
  • Skin(2.3)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with SLC31A1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC31A1 Gene

Orthologs for SLC31A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC31A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC31A1 30 31
  • 99.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC31A1 30 31
  • 91.36 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc31a1 30 17 31
  • 90.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc31a1 30
  • 90.88 (n)
Cow
(Bos Taurus)
Mammalia SLC31A1 30 31
  • 90.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC31A1 31
  • 85 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC31A1 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC31A1 30 31
  • 77.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC31A1 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.1914 30
Zebrafish
(Danio rerio)
Actinopterygii slc31a1 30 31
  • 72.19 (n)
OneToOne
Dr.6847 30
Fruit Fly
(Drosophila melanogaster)
Insecta Ctr1A 30 31
  • 56.44 (n)
ManyToMany
Ctr1B 31
  • 33 (a)
ManyToMany
Ctr1C 31
  • 21 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CTR2 33
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8961 31
  • 44 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3417 30
Species where no ortholog for SLC31A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SLC31A1 Gene

ENSEMBL:
Gene Tree for SLC31A1 (if available)
TreeFam:
Gene Tree for SLC31A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC31A1: view image

Paralogs for SLC31A1 Gene

Paralogs for SLC31A1 Gene

Pseudogenes.org Pseudogenes for SLC31A1 Gene

genes like me logo Genes that share paralogs with SLC31A1: view

Variants for SLC31A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC31A1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
713723 Benign: not provided 113,256,221(+) C/G MISSENSE_VARIANT
716923 Benign: not provided 113,260,425(+) C/T SYNONYMOUS_VARIANT
rs2233915 - p.Pro25Ala

Additional dbSNP identifiers (rs#s) for SLC31A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC31A1 Gene

Variant ID Type Subtype PubMed ID
esv2759710 CNV gain 17122850
nsv1041112 CNV loss 25217958
nsv1124465 CNV deletion 24896259

Variation tolerance for SLC31A1 Gene

Residual Variation Intolerance Score: 38.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.06; 50.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC31A1 Gene

Human Gene Mutation Database (HGMD)
SLC31A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC31A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC31A1 Gene

Disorders for SLC31A1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC31A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wilson disease
  • wnd
menkes disease
  • mnk
metal metabolism disorder
  • inborn metal metabolism disorder
ovarian cancer
  • ovarian cancer, somatic
aceruloplasminemia
  • cerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SLC31A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC31A1 Gene

Publications for SLC31A1 Gene

  1. hCTR1: a human gene for copper uptake identified by complementation in yeast. (PMID: 9207117) Zhou B … Gitschier J (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23
  2. Protein kinase inhibitors emodin and dichloro-ribofuranosylbenzimidazole modulate the cellular accumulation and cytotoxicity of cisplatin in a schedule-dependent manner. (PMID: 19529937) Kurokawa T … Siddik ZH (Cancer chemotherapy and pharmacology 2010) 3 23 26
  3. Enhanced delivery of cisplatin to intraperitoneal ovarian carcinomas mediated by the effects of bortezomib on the human copper transporter 1. (PMID: 19147760) Jandial DD … Howell SB (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 23 26
  4. Copper transporters and the cellular pharmacology of the platinum-containing cancer drugs. (PMID: 20159940) Howell SB … Sailor MJ (Molecular pharmacology 2010) 23 26
  5. Human copper transporter Ctr1 is functional in Drosophila, revealing a high degree of conservation between mammals and insects. (PMID: 19856191) Hua H … Steiger D (Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry 2010) 3 23

Products for SLC31A1 Gene

Sources for SLC31A1 Gene