• Gene id: 6545

Gene Summary

• Gene Symbol: SLC7A4   Gene   UCSC   Ensembl
• Aliases: CAT-4, CAT4, HCAT3, VH
• Gene name: solute carrier family 7 member 4
• Alternate names: cationic amino acid transporter 4, Ig heavy chain variable region, VH 3 family, solute carrier family 7 (cationic amino acid transporter, y+ system), member 4, solute carrier family 7 (orphan transporter), member 4,
• Gene location: 22q11.21 (21032560: 21028717)     Exons: 5     NC_000022.11
• OMIM: 162060

Protein Summary

• Protein general information: O43246  
  • Name: Cationic amino acid transporter 4 (CAT 4) (CAT4) (Solute carrier family 7 member 4)
  • Length: 635  
  • Mass: 68268
• Sequence:

  MARGLPTIASLARLCQKLNRLKPLEDSTMETSLRRCLSTLDLTLLGVGGMVGSGLYVLTGAVAKEVAGPAVLLSF
  GVAAVASLLAALCYAEFGARVPRTGSAYLFTYVSMGELWAFLIGWNVLLEYIIGGAAVARAWSGYLDSMFSHSIR
  NFTETHVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSSWLNHTFSAISLLVILFIVILGFILAQPHNWSAD
  EGGFAPFGFSGVMAGTASCFYAFVGFDVIAASSEEAQNPRRSVPLAIAISLAIAAGAYILVSTVLTLMVPWHSLD
  PDSALADAFYQRGYRWAGFIVAAGSICAMNTVLLSLLFSLPRIVYAMAADGLFFQVFAHVHPRTQVPVAGTLAFG
  LLTAFLALLLDLESLVQFLSLGTLLAYTFVATSIIVLRFQKSSPPSSPGPASPGPLTKQQSSFSDHLQLVGTVHA
  SVPEPGELKPALRPYLGFLDGYSPGAVVTWALGVMLASAITIGCVLVFGNSTLHLPHWGYILLLLLTSVMFLLSL
  LVLGAHQQQYREDLFQIPMVPLIPALSIVLNICLMLKLSYLTWVRFSIWLLMGLAVYFGYGIRHSKENQRELPGL
  NSTHYVVFPRGSLEETVQAMQPPSQAPAQDPGHME

• Structural information:
  • Interpro: IPR002293  IPR029485  
  • STRING: ENSP00000372390
• Other Databases: GeneCards:  SLC7A4  Malacards:  SLC7A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0015171	amino acid transmembrane transporter activity	IBA	molecular function
GO:0006865	amino acid transport	IBA	biological process
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015174	basic amino acid transmembrane transporter activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003333	amino acid transmembrane transport	IEA	biological process
GO:1990822	basic amino acid transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray