Details for: SLC25A36

Gene ID: 55186

Symbol: SLC25A36

Ensembl ID: ENSG00000114120

Description: solute carrier family 25 member 36

Associated with

Other Information

Genular Protein ID: 499701393

Symbol: S2536_HUMAN

Name: Solute carrier family 25 member 36

UniProtKB Accession Codes:

Q96CQ1 A8MYF7 Q05CY1 Q9H0G8 Q9NVN5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 37 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 RefSeq 2 Rhea 19 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 17210862

Title: Differential expression profile prioritization of positional candidate glaucoma genes: the GLC1C locus.

PubMed ID: 17210862

DOI: 10.1001/archopht.125.1.117

PubMed ID: 25320081

Title: The human SLC25A33 and SLC25A36 genes of solute carrier family 25 encode two mitochondrial pyrimidine nucleotide transporters.

PubMed ID: 25320081

DOI: 10.1074/jbc.m114.610808

PubMed ID: 34576089

Title: Uridine treatment of the first known case of SLC25A36 deficiency.

PubMed ID: 34576089

DOI: 10.3390/ijms22189929

PubMed ID: 34971397

Title: PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome.

PubMed ID: 34971397

DOI: 10.1210/clinem/dgab932

PubMed ID: 36695547

Title: Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.

PubMed ID: 36695547

DOI: 10.1002/jimd.12594

Sequence Information:

  • Length: 311
  • Mass: 34283
  • Checksum: D87DFDF7BC992D83
  • Sequence:
    • MSQRDTLVHL FAGGCGGTVG AILTCPLEVV KTRLQSSSVT LYISEVQLNT MAGASVNRVV 
SPGPLHCLKV ILEKEGPRSL FRGLGPNLVG VAPSRAIYFA AYSNCKEKLN DVFDPDSTQV 
HMISAAMAGF TAITATNPIW LIKTRLQLDA RNRGERRMGA FECVRKVYQT DGLKGFYRGM 
SASYAGISET VIHFVIYESI KQKLLEYKTA STMENDEESV KEASDFVGMM LAAATSKTCA 
TTIAYPHEVV RTRLREEGTK YRSFFQTLSL LVQEEGYGSL YRGLTTHLVR QIPNTAIMMA 
TYELVVYLLN G

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.