SLC31A1
High affinity copper uptake protein 1
Also known as: COPT1, COPT1_HUMAN, CTR1, hCTR1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O15431
- Gene
- SLC31A1
- Ensembl
- ENSG00000136868
- Chromosome
- 9
- Canonical length
- 190 aa
- Protein class
- Metabolic proteins, Predicted membrane proteins, Transporters
- Quaternary structure
- Homotrimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
190 residues, UniProt reviewed canonical sequence.
>O15431|SLC31A1
1 MDHSHHMGMS YMDSNSTMQP SHHHPTTSAS HSHGGGDSSM MMMPMTFYFG FKNVELLFSG
61 LVINTAGEMA GAFVAVFLLA MFYEGLKIAR ESLLRKSQVS IRYNSMPVPG PNGTILMETH
121 KTVGQQMLSF PHLLQTVLHI IQVVISYFLM LIFMTYNGYL CIAVAAGAGT GYFLFSWKKA
181 VVVDITEHCHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC31A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 3
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 101 nTPM
Expression across tissuesHPA
Tissue
- liver: 101 nTPM
- salivary gland: 63 nTPM
- duodenum: 42 nTPM
- choroid plexus: 38 nTPM
- small intestine: 35 nTPM
- kidney: 27 nTPM
Single-cell type
- adrenal medulla cells: 234 nCPM
- prostatic glandular cells: 138 nCPM
- hepatocytes: 125 nCPM
- enterocytes: 121 nCPM
- respiratory secretory cells: 120 nCPM
- salivary acinar cells: 116 nCPM
Immune cell
- non-classical monocyte: 31 nTPM
- intermediate monocyte: 27 nTPM
- classical monocyte: 21 nTPM
- myeloid DC: 16 nTPM
- neutrophil: 8.2 nTPM
- total PBMC: 7.6 nTPM
Brain region
- choroid plexus: 57 nTPM
- pons: 27 nTPM
- medulla oblongata: 17 nTPM
- thalamus: 17 nTPM
- spinal cord: 17 nTPM
- midbrain: 16 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC31A1.
Disease | AllUniProt
Conditions SLC31A1 is implicated in, by any mechanism.
- Neurodegeneration and seizures due to copper transport defect (NSCT) MIM:620306
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 28 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodegeneration and seizures due to copper transport defect
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.99
- gnomAD pLI
- 0.07
- gnomAD missense Z
- 1.08
- DepMap mean gene effect
- -0.31
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- copper ion import
- copper ion transport
- establishment of localization in cell
- intracellular copper ion homeostasis
- protein complex oligomerization
- vascular endothelial growth factor receptor-2 signaling pathway
- xenobiotic transport
- plasma membrane copper ion transport
- silver ion transmembrane transport
Molecular functions
- copper ion binding
- copper ion transmembrane transporter activity
- identical protein binding
- xenobiotic transmembrane transporter activity
- silver ion transmembrane transporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC31A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC31A1 as an antibody target. Whether an autoantibody or antibody against SLC31A1 could matter depends on whether native SLC31A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC31A1 is annotated at the cell surface, where native SLC31A1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC31A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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