SLC31A1 solute carrier family 31 member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC31A1provided by HGNC
Official Full Name: solute carrier family 31 member 1provided by HGNC
Primary source: HGNC:HGNC:11016
See related: Ensembl:ENSG00000136868 MIM:603085; AllianceGenome:HGNC:11016
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CTR1; NSCT; COPT1
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]
Expression: Ubiquitous expression in liver (RPKM 33.0), duodenum (RPKM 22.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (113221544..113264492)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (125420370..125463332)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (115983824..116026772)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of cuproptosis-related gene SLC31A1 and upstream LncRNA-miRNA regulatory axis in breast cancer.
Title: Identification of cuproptosis-related gene SLC31A1 and upstream LncRNA-miRNA regulatory axis in breast cancer.
Cuproptosis-related gene SLC31A1: prognosis values and potential biological functions in cancer.
Title: Cuproptosis-related gene SLC31A1: prognosis values and potential biological functions in cancer.
Cuproptosis-related gene SLC31A1 expression correlates with the prognosis and tumor immune microenvironment in glioma.
Title: Cuproptosis-related gene SLC31A1 expression correlates with the prognosis and tumor immune microenvironment in glioma.
High expression of cuproptosis-related SLC31A1 gene in relation to unfavorable outcome and deregulated immune cell infiltration in breast cancer: an analysis based on public databases.
Title: High expression of cuproptosis-related SLC31A1 gene in relation to unfavorable outcome and deregulated immune cell infiltration in breast cancer: an analysis based on public databases.
Effects of SLC31A1 and ATP7B polymorphisms on platinum resistance in patients with esophageal squamous cell carcinoma receiving neoadjuvant chemoradiotherapy.
Title: Effects of SLC31A1 and ATP7B polymorphisms on platinum resistance in patients with esophageal squamous cell carcinoma receiving neoadjuvant chemoradiotherapy.
Dual-mode imaging of copper transporter 1 in HepG2 cells by hyphenating confocal laser scanning microscopy with laser ablation ICPMS.
Title: Dual-mode imaging of copper transporter 1 in HepG2 cells by hyphenating confocal laser scanning microscopy with laser ablation ICPMS.
Abnormalities in the copper transporter CTR1 in postmortem hippocampus in schizophrenia: A subregion and laminar analysis.
Title: Abnormalities in the copper transporter CTR1 in postmortem hippocampus in schizophrenia: A subregion and laminar analysis.
Human marrow stromal cells secrete microRNA-375-containing exosomes to regulate glioma progression.
Title: Human marrow stromal cells secrete microRNA-375-containing exosomes to regulate glioma progression.
PTBP1 modulates osteosarcoma chemoresistance to cisplatin by regulating the expression of the copper transporter SLC31A1.
Title: PTBP1 modulates osteosarcoma chemoresistance to cisplatin by regulating the expression of the copper transporter SLC31A1.
Impaired copper transport in schizophrenia results in a copper-deficient brain state: A new side to the dysbindin story.
Title: Impaired copper transport in schizophrenia results in a copper-deficient brain state: A new side to the dysbindin story.

Submit: New GeneRIF Correction See all GeneRIFs (73)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodegeneration and seizures due to copper transport defect MedGen: C5830385 OMIM: 620306 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of serum albumin:globulin ratio in Korean populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

RH12245 (e-PCR)
- UniSTS:59264

D11S3114 (e-PCR)
- UniSTS:152207

RH46393 (e-PCR)
- UniSTS:87713

D9S262 (e-PCR), detects polymorphism
- UniSTS:63922

RH103708 (e-PCR)
- UniSTS:98033

RH65620 (e-PCR)
- UniSTS:90106

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper ion binding	IDA Inferred from Direct Assay more info	PubMed
enables copper ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables copper ion transmembrane transporter activity	TAS Traceable Author Statement more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables silver ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables silver ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables xenobiotic transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in copper ion import	IDA Inferred from Direct Assay more info	PubMed
involved_in copper ion import	ISS Inferred from Sequence or Structural Similarity more info
involved_in copper ion transport	TAS Traceable Author Statement more info	PubMed
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in intracellular copper ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane copper ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in protein complex oligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in silver ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in silver ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in vascular endothelial growth factor receptor-2 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic transport	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intercalated disc	IEA Inferred from Electronic Annotation more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in recycling endosome membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: high affinity copper uptake protein 1

Names: copper transport 1 homolog; copper transporter 1; solute carrier family 31 (copper transporter), member 1; solute carrier family 31 (copper transporters), member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.