• Gene id: 51151

Gene Summary

• Gene Symbol: SLC45A2   Gene   UCSC   Ensembl
• Aliases: 1A1, AIM1, MATP, OCA4, SHEP5
• Gene name: solute carrier family 45 member 2
• Alternate names: membrane-associated transporter protein, melanoma antigen AIM1, protein AIM-1, underwhite,
• Gene location: 5p13.2 (33984692: 33944622)     Exons: 7     NC_000005.10
• Gene summary(Entrez): This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associa
• OMIM: 606202

Protein Summary

• Protein general information: Q9UMX9  
  • Name: Membrane associated transporter protein (Melanoma antigen AIM1) (Protein AIM 1) (Solute carrier family 45 member 2)
  • Length: 530  
  • Mass: 58268
  • Tissue specificity: Expressed in most melanoma cell lines and melanocytes.
• Sequence:

  MGSNSGQAGRHIYKSLADDGPFDSVEPPKRPTSRLIMHSMAMFGREFCYAVEAAYVTPVLLSVGLPSSLYSIVWF
  LSPILGFLLQPVVGSASDHCRSRWGRRRPYILTLGVMMLVGMALYLNGATVVAALIANPRRKLVWAISVTMIGVV
  LFDFAADFIDGPIKAYLFDVCSHQDKEKGLHYHALFTGFGGALGYLLGAIDWAHLELGRLLGTEFQVMFFFSALV
  LTLCFTVHLCSISEAPLTEVAKGIPPQQTPQDPPLSSDGMYEYGSIEKVKNGYVNPELAMQGAKNKNHAEQTRRA
  MTLKSLLRALVNMPPHYRYLCISHLIGWTAFLSNMLFFTDFMGQIVYRGDPYSAHNSTEFLIYERGVEVGCWGLC
  INSVFSSLYSYFQKVLVSYIGLKGLYFTGYLLFGLGTGFIGLFPNVYSTLVLCSLFGVMSSTLYTVPFNLITEYH
  REEEKERQQAPGGDPDNSVRGKGMDCATLTCMVQLAQILVGGGLGFLVNTAGTVVVVVITASAVALIGCCFVALF
  VRYVD

• Structural information:
  • Interpro: IPR036259  
  • STRING: ENSP00000296589
• Other Databases: GeneCards:  SLC45A2  Malacards:  SLC45A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008506	sucrose:proton symporter activity	ISS	molecular function
GO:0015770	sucrose transport	ISS	biological process
GO:0008506	sucrose:proton symporter activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042438	melanin biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0048066	developmental pigmentation	IEA	biological process
GO:0015770	sucrose transport	IEA	biological process
GO:0008506	sucrose:proton symporter activity	IEA	molecular function
GO:0033162	melanosome membrane	IEA	cellular component

Diseases

Associated diseases	References
Oculocutaneous albinism	KEGG:H00168
Oculocutaneous albinism	KEGG:H00168
Oculocutaneous albinism type IV	PMID:14961451
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R