SLC25A36
entrez
55186
canonical
uniprot
Q96CQ1
canonical
ensembl
ENSG00000114120
resolver
ensp
ENSP00000320688
resolver
ensp
ENSP00000401938
resolver
genesymbol
SLC25A36
resolver
hgnc
HGNC:25554
resolver
uniprot
A0A384MEA9
resolver
uniprot
A8MYF7
resolver
uniprot
Q05CY1
resolver
uniprot
Q9H0G8
resolver
uniprot
Q9NVN5
resolver
uniprot_entry
A0A384MEA9_HUMAN
resolver
uniprot_entry
S2536_HUMAN
resolver
uniprot_sec
A8MYF7
resolver
uniprot_sec
Q05CY1
resolver
uniprot_sec
Q9H0G8
resolver
uniprot_sec
Q9NVN5
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, Mersalyl acid, p-hydroxymercuribenzoate). {ECO:0000269|PubMed:25320081}.
uniprot
proteins
amino_acid_sequence
MSQRDTLVHLFAGGCGGTVGAILTCPLEVVKTRLQSSSVTLYISEVQLNTMAGASVNRVVSPGPLHCLKVILEKEGPRSLFRGLGPNLVGVAPSRAIYFAAYSNCKEKLNDVFDPDSTQVHMISAAMAGFTAITATNPIWLIKTRLQLDARNRGERRMGAFECVRKVYQTDGLKGFYRGMSASYAGISETVIHFVIYESIKQKLLEYKTASTMENDEESVKEASDFVGMMLAAATSKTCATTIAYPHEVVRTRLREEGTKYRSFFQTLSLLVQEEGYGSLYRGLTTHLVRQIPNTAIMMATYELVVYLLNG
uniprot
proteins
disease_involvement
DISEASE: Hyperinsulinemic hypoglycemia, familial, 8 (HHF8) [MIM:620211]: A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF8 is an autosomal recessive form characterized by episodes of symptomatic hypoglycemia provoked by protein feeding, and persistent mild hyperammonemia. Affected children tend to have recurrent generalized seizures. {ECO:0000269|PubMed:34576089, ECO:0000269|PubMed:34971397, ECO:0000269|PubMed:36695547}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Selectively transports cytosine, guanosine, inosine and uridine (deoxy)nucleoside mono-, di-, and triphosphates by antiport mechanism. Catalyzes uniport at much lower rate (PubMed:25320081). May import (deoxy)nucleoside triphosphates in exchange for intramitochondrial (deoxy)nucleoside mono- and diphosphates, thus providing precursors necessary for de novo synthesis of mitochondrial DNA and RNA while exporting products of their catabolism (PubMed:25320081). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration. {ECO:0000269|PubMed:25320081}.
uniprot
proteins
mass_dalton
34283
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17210862
uniprot
proteins
pubmed
25320081
uniprot
proteins
pubmed
34576089
uniprot
proteins
pubmed
34971397
uniprot
proteins
pubmed
36695547
uniprot
proteins
sequence_length
311
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:25320081}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 7..27; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 41..57; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 111..131; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 180..200; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 226..246; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 291..311; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins