• Gene id: 80736

Gene Summary

• Gene Symbol: SLC44A4   Gene   UCSC   Ensembl
• Aliases: C6orf29, CTL4, DFNA72, NG22, TPPT, hTPPT1
• Gene name: solute carrier family 44 member 4
• Alternate names: choline transporter-like protein 4, testicular tissue protein Li 48, thiamine pyrophosphate transporter, thiamine pyrophosphate transporter 1,
• Gene location: 6p21.33 (31879045: 31863191)     Exons: 22     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding
• OMIM: 606107

Protein Summary

• Protein general information: Q53GD3  
  • Name: Choline transporter like protein 4 (Solute carrier family 44 member 4) (Thiamine pyrophosphate transporter 1) (hTPPT1)
  • Length: 710  
  • Mass: 79254
  • Tissue specificity: Highly expressed in colon, also detected in prostate, trachea and lung (PubMed
• Sequence:

  MGGKQRDEDDEAYGKPVKYDPSFRGPIKNRSCTDVICCVLFLLFILGYIVVGIVAWLYGDPRQVLYPRNSTGAYC
  GMGENKDKPYLLYFNIFSCILSSNIISVAENGLQCPTPQVCVSSCPEDPWTVGKNEFSQTVGEVFYTKNRNFCLP
  GVPWNMTVITSLQQELCPSFLLPSAPALGRCFPWTNVTPPALPGITNDTTIQQGISGLIDSLNARDISVKIFEDF
  AQSWYWILVALGVALVLSLLFILLLRLVAGPLVLVLILGVLGVLAYGIYYCWEEYRVLRDKGASISQLGFTTNLS
  AYQSVQETWLAALIVLAVLEAILLLMLIFLRQRIRIAIALLKEASKAVGQMMSTMFYPLVTFVLLLICIAYWAMT
  ALYLATSGQPQYVLWASNISSPGCEKVPINTSCNPTAHLVNSSCPGLMCVFQGYSSKGLIQRSVFNLQIYGVLGL
  FWTLNWVLALGQCVLAGAFASFYWAFHKPQDIPTFPLISAFIRTLRYHTGSLAFGALILTLVQIARVILEYIDHK
  LRGVQNPVARCIMCCFKCCLWCLEKFIKFLNRNAYIMIAIYGKNFCVSAKNAFMLLMRNIVRVVVLDKVTDLLLF
  FGKLLVVGGVGVLSFFFFSGRIPGLGKDFKSPHLNYYWLPIMTSILGAYVIASGFFSVFGMCVDTLFLCFLEDLE
  RNNGSLDRPYYMSKSLLKILGKKNEAPPDNKKRKK

• Structural information:
  • Interpro: IPR007603  
  • STRING: ENSP00000229729
• Other Databases: GeneCards:  SLC44A4  Malacards:  SLC44A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0030974	thiamine pyrophosphate transmembrane transport	IBA	biological process
GO:0055085	transmembrane transport	IBA	biological process
GO:0090422	thiamine pyrophosphate transmembrane transporter activity	IBA	molecular function
GO:0015871	choline transport	IBA	biological process
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030974	thiamine pyrophosphate transmembrane transport	IDA	biological process
GO:0015871	choline transport	IMP	biological process
GO:0008292	acetylcholine biosynthetic process	IMP	biological process
GO:0015871	choline transport	IMP	biological process
GO:0015220	choline transmembrane transporter activity	IMP	molecular function
GO:0030974	thiamine pyrophosphate transmembrane transport	IMP	biological process
GO:0035675	neuromast hair cell development	ISS	biological process
GO:0032475	otolith formation	ISS	biological process
GO:0090422	thiamine pyrophosphate transmembrane transporter activity	IMP	molecular function
GO:0061526	acetylcholine secretion	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0006656	phosphatidylcholine biosynthetic process	TAS	biological process
GO:0090422	thiamine pyrophosphate transmembrane transporter activity	IEA	molecular function
GO:0030974	thiamine pyrophosphate transmembrane transport	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008292	acetylcholine biosynthetic process	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0061526	acetylcholine secretion	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05231	Choline metabolism in cancer

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)