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Aliases for SLC31A1 Gene

Aliases for SLC31A1 Gene

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

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 Ethylmalonic Encephalopathy. Among its related pathways are Metal ion SLC transporters and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include copper ion transmembrane transporter activity and copper uptake transmembrane transporter activity. An important paralog of this gene is SLC31A2.

UniProtKB/Swiss-Prot for SLC31A1 Gene

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

Gene Wiki entry for SLC31A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC31A1 Gene

Genomics for SLC31A1 Gene

Regulatory Elements for SLC31A1 Gene

Enhancers for SLC31A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F113186 1.1 ENCODE 17.6 -33.5 -33519 2.7 TAF1 ETV1 BHLHE40 CEBPB MAX ZNF175 GABPA JUND CTBP1 ATF3 SLC31A1 PRPF4 SLC31A2 FKBP15 RNF183 BSPRY HDHD3 PIR31842
GH09F113183 1 ENCODE 17.6 -36.8 -36756 1.6 ELF3 THRB ZSCAN9 RARA CREM THAP11 SP5 CEBPB KAT8 TGIF2 SLC31A1 SLC31A2 FKBP15 PIR31842
GH09F113255 0.2 Ensembl 11.3 +34.0 33973 0.2 FKBP15 SLC31A1 CDC26 RNF183 ALAD PIR39900
GH09F113268 0.5 ENCODE 11.2 +48.1 48120 1.3 ZBTB33 YY1 PRPF4 CDC26 WDR31 FKBP15 SLC31A1 RNF183 C9orf43 POLE3 PIR39900
GH09F113137 0.2 ENCODE 10.6 -83.6 -83631 1.0 SOX13 PKNOX1 NFIA SP5 CEBPB CEBPG ZBTB40 ZNF644 ZNF217 CTBP1 FKBP15 SLC31A1 CDC26 PRPF4 HDHD3 SLC31A2 PIR44474
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC31A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC31A1 Gene

Chromosome:
9
Start:
113,221,528 bp from pter
End:
113,264,492 bp from pter
Size:
42,965 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 Asn 15 and Thr 27
  • 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:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC31A1 Gene

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

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

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:0015088 copper uptake transmembrane transporter activity IEA --
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

miRNA for SLC31A1 Gene

miRTarBase miRNAs that target SLC31A1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for SLC31A1 Gene COMPARTMENTS Subcellular localization image for SLC31A1 gene
Compartment Confidence
plasma membrane 5
endosome 3
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC31A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005770 late endosome IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 9207117
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC31A1: view

Pathways & Interactions for SLC31A1 Gene

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

Interacting Proteins for SLC31A1 Gene

Gene Ontology (GO) - Biological Process for SLC31A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006825 copper ion transport IEA,TAS 9207117
GO:0006855 drug transmembrane transport IEA --
GO:0006878 cellular copper ion homeostasis 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, FDA Approved Drugs, 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 1980
Cisplatin Approved Pharma Transporter, substrate Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2690
Oxaliplatin Approved, Investigational Pharma Transporter, substrate Antitumor agent, Platinum 1412
Copper Approved Pharma 172
Eloxatin Approved August 2002 Pharma 0
genes like me logo Genes that share compounds with SLC31A1: view

Transcripts for SLC31A1 Gene

mRNA/cDNA for SLC31A1 Gene

Unigene Clusters for SLC31A1 Gene

Solute carrier family 31 (copper transporters), member 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for SLC31A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC31A1 Gene:

SLC31A1

SOURCE GeneReport for Unigene cluster for SLC31A1 Gene:

Hs.532315
genes like me logo Genes that share expression patterns with SLC31A1: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia SLC31A1 34 35
  • 91.36 (n)
mouse
(Mus musculus)
Mammalia Slc31a1 34 16 35
  • 90.96 (n)
rat
(Rattus norvegicus)
Mammalia Slc31a1 34
  • 90.88 (n)
cow
(Bos Taurus)
Mammalia SLC31A1 34 35
  • 90.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC31A1 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC31A1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC31A1 34 35
  • 77.66 (n)
lizard
(Anolis carolinensis)
Reptilia SLC31A1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1914 34
zebrafish
(Danio rerio)
Actinopterygii slc31a1 34 35
  • 72.19 (n)
Dr.6847 34
fruit fly
(Drosophila melanogaster)
Insecta Ctr1A 34 35
  • 56.44 (n)
Ctr1B 35
  • 33 (a)
ManyToMany
Ctr1C 35
  • 21 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CTR2 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8961 35
  • 44 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3417 34
Species where no ortholog for SLC31A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

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 from dbSNP and Humsavar for SLC31A1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10081796 -- 113,237,898(+) TTAGA(C/G)TGCAT intron-variant
rs10081797 -- 113,237,973(+) CTGAG(C/T)TCTCA intron-variant
rs10121845 -- 113,227,443(+) GAGTC(A/G)GGGCT intron-variant
rs10123211 -- 113,264,175(+) tgggc(A/G)tggtg utr-variant-3-prime
rs10123415 -- 113,229,037(+) GATGG(C/G)GTTTC intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
wilson disease
  • cerebral pseudosclerosis
ethylmalonic encephalopathy
  • encephalopathy, ethylmalonic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC31A1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC31A1
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. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 22 64
  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 Z.H. (Cancer Chemother. Pharmacol. 2010) 3 22 25 64
  3. Enhanced delivery of cisplatin to intraperitoneal ovarian carcinomas mediated by the effects of bortezomib on the human copper transporter 1. (PMID: 19147760) Jandial D.D. … Howell S.B. (Clin. Cancer Res. 2009) 3 22 25 64
  4. Human copper transporter Ctr1 is functional in Drosophila, revealing a high degree of conservation between mammals and insects. (PMID: 19856191) Hua H. … Steiger D. (J. Biol. Inorg. Chem. 2010) 3 22 64
  5. Copper transporters and the cellular pharmacology of the platinum-containing cancer drugs. (PMID: 20159940) Howell S.B. … Sailor M.J. (Mol. Pharmacol. 2010) 22 25 64

Products for SLC31A1 Gene

Sources for SLC31A1 Gene

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