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High affinity copper uptake protein 1

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Protein-coding gene in the species Homo sapiens

SLC31A1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2LS2, 2LS3, 2LS4

Identifiers
AliasesSLC31A1, COPT1, CTR1, solute carrier family 31 member 1
External IDsOMIM: 603085; MGI: 1333843; HomoloGene: 1399; GeneCards: SLC31A1; OMA:SLC31A1 - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)
Chromosome 9 (human)Genomic location for SLC31A1Genomic location for SLC31A1
Band9q32Start113,221,544 bp
End113,264,492 bp
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)
Chromosome 4 (mouse)Genomic location for SLC31A1Genomic location for SLC31A1
Band4|4 B3Start62,278,964 bp
End62,310,006 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • parotid gland

  • jejunal mucosa

  • olfactory zone of nasal mucosa

  • duodenum

  • liver

  • mucosa of paranasal sinus

  • right lobe of liver

  • nasal epithelium

  • cartilage tissue

  • amniotic fluid
Top expressed in
  • Ileal epithelium

  • choroid plexus of fourth ventricle

  • Epithelium of choroid plexus

  • right kidney

  • superior cervical ganglion

  • proximal tubule

  • yolk sac

  • epithelium of lens

  • left lung lobe

  • jejunum
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1317

20529

Ensembl

ENSG00000136868

ENSMUSG00000066150

UniProt

O15431

Q8K211

RefSeq (mRNA)

NM_001859

NM_175090

RefSeq (protein)

NP_001850

NP_780299

Location (UCSC)Chr 9: 113.22 – 113.26 MbChr 4: 62.28 – 62.31 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

High affinity copper uptake protein 1 (CTR1) is a protein that in humans is encoded by the SLC31A1 gene.

Copper is an element essential for life, but excessive copper can be toxic or even lethal to the cell. Therefore, cells have developed sophisticated ways to maintain a critical copper balance, with the intake, export, and intracellular compartmentalization or buffering of copper strictly regulated. The 2 related genes ATP7A and ATP7B, responsible for the human diseases Menkes syndrome and Wilson disease, respectively, are involved in copper export. In S. cerevisiae, the copper uptake genes CTR1, CTR2, and CTR3 have been identified, and in human the CTR1 and CTR2 (MIM 603088) genes have been identified.

Clinical significance

In 2022, a new autosomal-recessive disease was discovered that is caused by mutations of the CTR1 gene. The disease is characterized by profound deficiency of copper in the central nervous system and presents with infantile seizures and neurodegeneration.

See also

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000136868Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000066150Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Zhou B, Gitschier J (Aug 1997). "hCTR1: a human gene for copper uptake identified by complementation in yeast". Proc Natl Acad Sci U S A. 94 (14): 7481–6. Bibcode:1997PNAS...94.7481Z. doi:10.1073/pnas.94.14.7481. PMC 23847. PMID 9207117.
  6. ^ "Entrez Gene: SLC31A1 solute carrier family 31 (copper transporters), member 1".
  7. Batzios S, Tal G, DiStasio AT, Peng Y, Charalambous C, Nicolaides P, Kamsteeg EJ, Korman SH, Mandel H, Steinbach PJ, Yi L, Fair SR, Hester ME, Drousiotou A, Kaler SG (August 2022). "Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter". Human Molecular Genetics. 31 (24): 4121–4130. doi:10.1093/hmg/ddac156. PMC 9759326. PMID 35913762.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Membrane proteins, carrier proteins: membrane transport proteins solute carrier (TC 2A)
By group
SLC1–10
(1):
(2):
(3):
(4):
(5):
(6):
(7):
(8):
(9):
(10):
SLC11–20
(11):
(12):
(13):
(14):
(15):
(16):
(17):
(18):
(19):
(20):
SLC21–30
(21):
(22):
(23):
(24):
(25):
(26):
(27):
(28):
(29):
(30):
SLC31–40
(31):
(32):
(33):
(34):
(35):
(36):
(37):
(38):
(39):
(40):
SLC41–48
(41):
(42):
(43):
(44):
(45):
(46):
(47):
(48):
SLCO1–4
Ion pumps
Symporter, Cotransporter
Antiporter (exchanger)
see also solute carrier disorders
Metabolism: Metal metabolism
Transition metal
Iron metabolism
Absorption in
duodenum
Iron(II) oxide:
Iron(III) oxide:
Other
Iron-binding proteins:
Copper metabolism
Zinc metabolism
Electrolyte
Sodium metabolism
Phosphate metabolism
Magnesium metabolism
Calcium metabolism


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