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Protein Page:
SLC45A2 (human)

Overview
SLC45A2 Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis. Defects in SLC45A2 are the cause of albinism oculocutaneous type 4 (OCA4). A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Transporter, SLC family; Membrane protein, integral; Membrane protein, multi-pass; Transporter
Chromosomal Location of Human Ortholog: 5p13.2
Cellular Component: melanosome membrane; integral to membrane
Biological Process: melanin biosynthetic process; visual perception; pigmentation during development; response to stimulus
Reference #:  Q9UMX9 (UniProtKB)
Alt. Names/Synonyms: 1A1; AIM1; MATP; Melanoma antigen AIM1; membrane associated transporter; Membrane-associated transporter protein; Protein AIM-1; S45A2; SHEP5; SLC45A2; Solute carrier family 45 member 2; solute carrier family 45, member 2; underwhite
Gene Symbols: SLC45A2
Molecular weight: 58,268 Da
Basal Isoelectric point: 7.17  Predict pI for various phosphorylation states
Select Structure to View Below

SLC45A2

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 D263 QDPPLSSDGMYEYGS
0 1 S270 DGMYEYGSIEKVKNG
0 1 Y278-p IEKVKNGyVNPELAM
  mouse

 
S263-p QGSSLSAsGMHEYGs
S270-p sGMHEYGsIEKVKNG
G278 IEKVKNGGADTEQPV
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