GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:7601462
| Citation |
Lee, ST, Nicholls, RD, Jong, MT, Fukai, K and Spritz, RA (1995) Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26:354-63 |
|---|---|
| Abstract |
We have determined the structure, nucleotide sequence, and polymorphisms of the human P gene. Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice. We find that the human P gene is quite large, consisting of 25 exons spanning 250 to 600 kb in chromosome segment 15q11-q13. The P polypeptide appears to define a novel family of small molecule transporters and may be involved in transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. These results provide the basis for analyses of patients with OCA2 and may point toward eventual pharmacologic treatment of this and related disorders of pigmentation. |
| Links | |
| Keywords |
Albinism, Oculocutaneous/genetics; Alleles; Amino Acid Sequence; Animals; Bacterial Proteins/genetics; Base Sequence; Carrier Proteins/classification; Carrier Proteins/genetics; Chromosome Mapping; Chromosomes, Human, Pair 15; Continental Population Groups/genetics; Ethnic Groups/genetics; Exons; Genes; Genes, Recessive; Humans; Membrane Proteins/genetics; Membrane Transport Proteins; Mice; Molecular Sequence Data; Multigene Family; Polymerase Chain Reaction; Promoter Regions, Genetic; Sequence Alignment; Sequence Homology, Amino Acid; Species Specificity; Tyrosine/metabolism |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
enables |
GO:0005302: L-tyrosine transmembrane transporter activity |
ECO:0000304: author statement supported by traceable reference used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005737: cytoplasm |
ECO:0000304: author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | |||
See also
References
See Help:References for how to manage references in GONUTS.
