ENSG00000204385


Homo sapiens

Features
Gene ID: ENSG00000204385
  
Biological name :SLC44A4
  
Synonyms : Q53GD3 / SLC44A4 / solute carrier family 44 member 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p21.33
Gene start: 31863192
Gene end: 31879046
  
Corresponding Affymetrix probe sets: 1555203_s_at (Human Genome U133 Plus 2.0 Array)   205597_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000398901
Ensembl peptide - ENSP00000496109
Ensembl peptide - ENSP00000444109
Ensembl peptide - ENSP00000229729
Ensembl peptide - ENSP00000364712
NCBI entrez gene - 80736     See in Manteia.
OMIM - 606107
RefSeq - NM_001178044
RefSeq - NM_001178045
RefSeq - NM_025257
RefSeq Peptide - NP_001171515
RefSeq Peptide - NP_001171516
RefSeq Peptide - NP_079533
swissprot - Q53GD3
swissprot - A0A140VJH4
swissprot - H0Y5I3
swissprot - A0A1U9X8K7
Ensembl - ENSG00000204385
  
Related genetic diseases (OMIM): 617606 - ?Deafness, autosomal dominant 72, 617606
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01088282.1ENSDARG00000102381Danio rerio
 Q91VA1ENSMUSG00000007034Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8IWA5 / SLC44A2 / solute carrier family 44 member 2ENSG0000012935352
Q8NCS7 / SLC44A5 / solute carrier family 44 member 5ENSG0000013796847
Q8WWI5 / SLC44A1 / solute carrier family 44 member 1ENSG0000007021426
Q8N4M1 / SLC44A3 / solute carrier family 44 member 3ENSG0000014303625


Protein motifs (from Interpro)
Interpro ID Name
 IPR007603  Choline transporter-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006656 phosphatidylcholine biosynthetic process TAS
 biological_processGO:0008292 acetylcholine biosynthetic process IMP
 biological_processGO:0015871 choline transport IMP
 biological_processGO:0030307 positive regulation of cell growth IMP
 biological_processGO:0030974 thiamine pyrophosphate transmembrane transport IMP
 biological_processGO:0032475 otolith formation ISS
 biological_processGO:0035675 neuromast hair cell development ISS
 biological_processGO:0055085 transmembrane transport TAS
 biological_processGO:0061526 acetylcholine secretion IMP
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0015220 choline transmembrane transporter activity TAS
 molecular_functionGO:0090422 thiamine pyrophosphate transmembrane transporter activity IMP


Pathways (from Reactome)
Pathway description
Synthesis of PC
Transport of bile salts and organic acids, metal ions and amine compounds


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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