Human Gene SLC45A2 (ENST00000296589.9) Description and Page Index
Description: Homo sapiens solute carrier family 45 member 2 (SLC45A2), transcript variant 1, mRNA. (from RefSeq NM_016180) RefSeq Summary (NM_016180): 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 associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. Gencode Transcript: ENST00000296589.9 Gencode Gene: ENSG00000164175.15 Transcript (Including UTRs) Position: hg38 chr5:33,944,623-33,984,693 Size: 40,071 Total Exon Count: 7 Strand: - Coding Region Position: hg38 chr5:33,944,648-33,984,583 Size: 39,936 Coding Exon Count: 7
ID:S45A2_HUMAN DESCRIPTION: RecName: Full=Membrane-associated transporter protein; AltName: Full=Melanoma antigen AIM1; Short=Protein AIM-1; AltName: Full=Solute carrier family 45 member 2; FUNCTION: Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity). SUBCELLULAR LOCATION: Melanosome membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in most melanoma cell lines and melanocytes. POLYMORPHISM: Genetic variants in SLC45A2 define the skin/hair/eye pigmentation variation locus 5 (SHEP5) [MIM:227240]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. DISEASE: Defects in SLC45A2 are the cause of albinism oculocutaneous type 4 (OCA4) [MIM:606574]. 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. SIMILARITY: Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. SEQUENCE CAUTION: Sequence=AAH03597.1; Type=Frameshift; Positions=188; WEB RESOURCE: Name=Mutations of the MATP gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/matpmut.htm"; WEB RESOURCE: Name=Albinism database (ADB); Note=SLC45A2 mutations; URL="http://albinismdb.med.umn.edu/oca4mut.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC45A2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UMX9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.