SLC44A4 (solute carrier family 44 member 4)

2014-11-01  

Identity

HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
C6orf29,CTL4,DFNA72,NG22,TPPT,hTPPT1
FUSION GENES

Other Information

Locus ID:

NCBI: 80736
MIM: 606107
HGNC: 13941
Ensembl: ENSG00000204385

Variants:

dbSNP: 80736
ClinVar: 80736
TCGA: ENSG00000204385
COSMIC: SLC44A4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204385ENST00000229729Q53GD3
ENSG00000204385ENST00000229729A0A140VJH4
ENSG00000204385ENST00000375562Q53GD3
ENSG00000204385ENST00000414427H0Y5I3
ENSG00000204385ENST00000544672Q53GD3
ENSG00000204385ENST00000544672A0A1U9X8K7
ENSG00000204385ENST00000644409Q53GD3
ENSG00000204385ENST00000644409A0A1U9X8K7

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Choline metabolism in cancerKEGGhsa05231
Choline metabolism in cancerKEGGko05231
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PCREACTOMER-HSA-1483191

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
387136152024Effect of knocking out mouse Slc44a4 on colonic uptake of the microbiota-generated thiamine pyrophosphate and colon physiology.0
387136152024Effect of knocking out mouse Slc44a4 on colonic uptake of the microbiota-generated thiamine pyrophosphate and colon physiology.0
280132912017SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.5
287530732017Evaluating the Association of Common Variants of the SLC44A4 Gene with Ulcerative Colitis Susceptibility in the Han Chinese Population.3
280132912017SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.5
287530732017Evaluating the Association of Common Variants of the SLC44A4 Gene with Ulcerative Colitis Susceptibility in the Han Chinese Population.3
267412882016Identification of critical variants within SLC44A4, an ulcerative colitis susceptibility gene identified in a GWAS in north Indians.7
268281222016The human colonic thiamine pyrophosphate transporter (hTPPT) is a glycoprotein and N-linked glycosylation is important for its function.5
269016542016Mechanism(S) Involved in the Colon-Specific Expression of the Thiamine Pyrophosphate (Tpp) Transporter.10
277590292016A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility.6
267412882016Identification of critical variants within SLC44A4, an ulcerative colitis susceptibility gene identified in a GWAS in north Indians.7
268281222016The human colonic thiamine pyrophosphate transporter (hTPPT) is a glycoprotein and N-linked glycosylation is important for its function.5
269016542016Mechanism(S) Involved in the Colon-Specific Expression of the Thiamine Pyrophosphate (Tpp) Transporter.10
277590292016A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility.6
257157032015Regulation of basal promoter activity of the human thiamine pyrophosphate transporter SLC44A4 in human intestinal epithelial cells.11

Citation

Dessen P

SLC44A4 (solute carrier family 44 member 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73445/slc44a4-(solute-carrier-family-44-member-4)