• Gene id: 60482

Gene Summary

• Gene Symbol: SLC5A7   Gene   UCSC   Ensembl
• Aliases: CHT, CHT1, CMS20, HMN7A
• Gene name: solute carrier family 5 member 7
• Alternate names: high affinity choline transporter 1, high affinity choline transporter; hemicholinium-3-sensitive choline transporter, solute carrier family 5 (sodium/choline cotransporter), member 7,
• Gene location: 2q12.3 (107986523: 108014496)     Exons: 10     NC_000002.12
• Gene summary(Entrez): This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals fo
• OMIM: 616757

Protein Summary

• Protein general information: Q9GZV3  
  • Name: High affinity choline transporter 1 (Hemicholinium 3 sensitive choline transporter) (CHT) (Solute carrier family 5 member 7)
  • Length: 580  
  • Mass: 63204
  • Tissue specificity: Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons.
• Sequence:

  MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTATWVGGGYINGTAEAV
  YVPGYGLAWAQAPIGYSLSLILGGLFFAKPMRSKGYVTMLDPFQQIYGKRMGGLLFIPALMGEMFWAAAIFSALG
  ATISVIIDVDMHISVIISALIATLYTLVGGLYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQ
  KPWLGTVDSSEVYSWLDSFLLLMLGGIPWQAYFQRVLSSSSATYAQVLSFLAAFGCLVMAIPAILIGAIGASTDW
  NQTAYGLPDPKTTEEADMILPIVLQYLCPVYISFFGLGAVSAAVMSSADSSILSASSMFARNIYQLSFRQNASDK
  EIVWVMRITVFVFGASATAMALLTKTVYGLWYLSSDLVYIVIFPQLLCVLFVKGTNTYGAVAGYVSGLFLRITGG
  EPYLYLQPLIFYPGYYPDDNGIYNQKFPFKTLAMVTSFLTNICISYLAKYLFESGTLPPKLDVFDAVVARHSEEN
  MDKTILVKNENIKLDELALVKPRQSMTLSSTFTNKEAFLDVDSSPEGSGTEDNLQ

• Structural information:
  • Interpro: IPR038377  IPR001734  
  • Prosite: PS50283
  • STRING: ENSP00000264047
• Other Databases: GeneCards:  SLC5A7  Malacards:  SLC5A7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008292	acetylcholine biosynthetic process	IBA	biological process
GO:0015871	choline transport	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0030425	dendrite	IBA	cellular component
GO:0005307	choline:sodium symporter activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007271	synaptic transmission, cholinergic	IBA	biological process
GO:0007274	neuromuscular synaptic transmission	IBA	biological process
GO:0043204	perikaryon	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0031594	neuromuscular junction	IDA	cellular component
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0042136	neurotransmitter biosynthetic process	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005307	choline:sodium symporter activity	IMP	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0015220	choline transmembrane transporter activity	TAS	molecular function
GO:0033265	choline binding	IEA	molecular function
GO:0015871	choline transport	IEA	biological process
GO:0015220	choline transmembrane transporter activity	IEA	molecular function
GO:0008292	acetylcholine biosynthetic process	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0007274	neuromuscular synaptic transmission	IEA	biological process
GO:0007271	synaptic transmission, cholinergic	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0008292	acetylcholine biosynthetic process	IMP	biological process
GO:0015220	choline transmembrane transporter activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04725	Cholinergic synapse
hsa05231	Choline metabolism in cancer

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Distal hereditary motor neuropathies	KEGG:H00856
Congenital myasthenic syndrome	KEGG:H00770
Distal hereditary motor neuropathies	KEGG:H00856
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881