| Identification |
|---|
| HMDB Protein ID
| CDBP04794 |
| Secondary Accession Numbers
| Not Available |
| Name
| P protein |
| Description
| Not Available |
| Synonyms
|
- Melanocyte-specific transporter protein
- Pink-eyed dilution protein homolog
|
| Gene Name
| OCA2 |
| Protein Type
| Transporter |
| Biological Properties |
|---|
| General Function
| Involved in arsenite transmembrane transporter activity |
| Specific Function
| Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color |
| GO Classification
|
| Component |
| membrane part |
| intrinsic to membrane |
| integral to membrane |
| cell part |
| Function |
| inorganic anion transmembrane transporter activity |
| transmembrane transporter activity |
| substrate-specific transmembrane transporter activity |
| ion transmembrane transporter activity |
| transporter activity |
| tricarboxylic acid transmembrane transporter activity |
| citrate transmembrane transporter activity |
| arsenite transmembrane transporter activity |
| organic acid transmembrane transporter activity |
| carboxylic acid transmembrane transporter activity |
| anion transmembrane transporter activity |
| Process |
| tricarboxylic acid transport |
| citrate transport |
| transmembrane transport |
| organic acid transport |
| carboxylic acid transport |
| establishment of localization |
| transport |
|
| Cellular Location
|
- Melanosome membrane
- Multi-pass membrane protein
|
| Pathways
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| Chromosome:1 |
| Locus
| 15q |
| SNPs
| OCA2 |
| Gene Sequence
|
>2517 bp
ATGCATCTGGAGGGCAGAGACGGCAGGCGGTACCCCGGCGCGCCGGCGGTGGAGCTCCTG
CAGACGTCCGTGCCCAGCGGACTCGCTGAACTTGTGGCCGGCAAGCGCAGGCTTCCTCGG
GGAGCCGGTGGAGCTGACCCCTCGCACTCCTGCCCCAGGGGGGCTGCCGGGCAGAGCTCT
TGGGCTCCTGCAGGCCAGGAGTTTGCTTCATTCCTCACAAAAGGGAGGTCTCACTCTTCT
TTGCCCCAGATGTCCAGCTCCAGGTCTAAAGATTCCTGCTTTACAGAAAACACTCCTTTG
CTGAGGAATTCCTTACAGGAGAAAGGGTCACGGTGCATACCTGTTTACCATCCAGAGTTC
ATCACTGCTGAAGAGTCTTGGGAAGACAGCTCTGCTGACTGGGAGCGAAGATACCTGCTA
AGCAGGGAGGTGTCTGGTCTGTCTGCATCTGCCTCCTCCGAGAAGGGAGACCTTCTGGAC
AGCCCGCACATCCGACTCCGTCTTTCCAAGCTGAGGCGCTGTGTGCAGTGGCTGAAAGTC
ATGGGCCTGTTTGCCTTTGTGGTGCTGTGTTCTATTTTGTTCAGCCTATATCCGGATCAA
GGAAAGCTCTGGCAGCTGTTGGCCTTATCACCGCTGGAGAACTACTCCGTGAACCTTAGC
AGCCACGTGGACTCCACGCTGCTGCAGGTGGACCTGGCAGGGGCCCTAGTGGCCAGTGGG
CCGAGTCGTCCTGGGAGGGAAGAGCACATCGTGGTGGAGCTGACCCAGGCTGACGCTTTG
GGCTCCAGGTGGCGGCGGCCACAGCAGGTCACTCACAACTGGACGGTGTATTTAAATCCG
AGGAGAAGCGAGCACTCAGTGATGAGCAGGACCTTTGAGGTACTGACCAGAGAGACGGTG
TCCATCAGCATCCGGGCCTCCCTGCAGCAGACCCAGGCTGTCCCTCTTTTGATGGCTCAT
CAGTACCTCCGCGGAAGTGTAGAAACCCAGGTGACCATCGCGACGGCCATCCTCGCGGGC
GTCTACGCGCTGATCATATTTGAGATCGTGCACAGAACTCTGGCGGCCATGCTGGGTTCC
CTTGCAGCACTGGCAGCACTGGCTGTGATTGGCGATAGACCCAGCCTGACCCATGTGGTG
GAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGATGATCTTAGTAGCCATA
TTTTCAGAAACGGGATTTTTCGATTATTGTGCTGTAAAGGCATACCGGCTCTCCCGGGGA
CGGGTGTGGGCCATGATCATCATGCTCTGTCTCATCGCGGCCGTCCTCTCTGCCTTCTTG
GACAACGTCACCACCATGCTCCTCTTCACGCCTGTGACCATAAGGTTGTGTGAGGTGCTC
AACCTTGATCCAAGACAAGTCCTGATTGCAGAAGTGATCTTCACAAACATTGGAGGAGCT
GCCACTGCCATCGGGGACCCTCCAAATGTCATTATTGTTTCCAACCAAGAGCTGAGGAAG
ATGGGCCTGGACTTTGCCGGATTCACTGCACACATGTTCATTGGGATTTGCCTTGTTCTC
CTGGTCTGCTTTCCGCTCCTCAGACTCCTTTACTGGAACAGAAAGCTTTATAACAAGGAA
CCCAGTGAGATTGTTGAACTGAAGCACGAGATTCACGTCTGGCGCCTGACTGCTCAGCGC
ATCAGCCCGGCCAGCCGCGAGGAGACAGCTGTGCGCCGCCTGCTGCTGGGGAAGGTGCTG
GCACTGGAGCACCTGCTCGCCCGGAGGCTGCACACCTTCCACAGACAGATCTCACAGGAG
GACAAAAATTGGGAGACCAATATCCAAGAACTCCAAAAAAAGCATAGGATATCTGACGGG
ATTCTGCTCGCCAAATGCCTGACAGTGTTGGGATTTGTTATCTTCATGTTTTTCCTCAAT
TCGTTTGTCCCTGGCATTCATCTTGATCTTGGATGGATTGCTATTCTGGGTGCCATCTGG
TTGCTAATTTTAGCTGATATTCATGATTTTGAGATAATTCTACACAGAGTGGAATGGGCA
ACCCTTCTGTTTTTTGCAGCGCTCTTTGTTCTGATGGAGGCATTGGCACATCTCCACTTA
ATAGAATATGTTGGAGAACAAACTGCTTTGCTAATAAAGATGGTCCCAGAGGAGCAGCGC
CTCATAGCCGCCATTGTCCTGGTGGTGTGGGTCTCAGCCCTGGCGTCGTCCCTGATTGAC
AACATCCCGTTCACTGCTACCATGATTCCCGTGCTCCTGAACCTGAGCCACGACCCTGAG
GTTGGCCTGCCCGCACCGCCGCTCATGTATGCCCTGGCCTTCGGTGCTTGCCTGGGAGGT
AACGGGACACTGATTGGCGCGTCGGCAAACGTCGTGTGTGCAGGGATTGCAGAACAGCAT
GGATATGGGTTCTCCTTCATGGAATTTTTCAGGCTGGGCTTCCCAATGATGGTTGTGTCC
TGCACTGTTGGGATGTGTTATCTCCTTGTGGCTCATGTGGTGGTGGGATGGAATTAA
|
| Protein Properties |
|---|
| Number of Residues
| 838 |
| Molecular Weight
| 92848.5 |
| Theoretical pI
| 7.28 |
| Pfam Domain Function
|
|
| Signals
|
|
|
Transmembrane Regions
|
- ["180-197", "331-347", "354-370", "385-401", "424-440", "514-530", "621-637", "648-664", "680-696", "721-737", "761-777", "818-834"]
|
| Protein Sequence
|
>P protein
MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGADPSHSCPRGAAGQSS
WAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLRNSLQEKGSRCIPVYHPEF
ITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLDSPHIRLRLSKLRRCVQWLKV
MGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVNLSSHVDSTLLQVDLAGALVASG
PSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNPRRSEHSVMSRTFEVLTRETV
SISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAGVYALIIFEIVHRTLAAMLGS
LAALAALAVIGDRPSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRG
RVWAMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGA
ATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFPLLRLLYWNRKLYNKE
PSEIVELKHEIHVWRLTAQRISPASREETAVRRLLLGKVLALEHLLARRLHTFHRQISQE
DKNWETNIQELQKKHRISDGILLAKCLTVLGFVIFMFFLNSFVPGIHLDLGWIAILGAIW
LLILADIHDFEIILHRVEWATLLFFAALFVLMEALAHLHLIEYVGEQTALLIKMVPEEQR
LIAAIVLVVWVSALASSLIDNIPFTATMIPVLLNLSHDPEVGLPAPPLMYALAFGACLGG
NGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCTVGMCYLLVAHVVVGWN
|
| External Links |
|---|
| GenBank ID Protein
| 157266326 |
| UniProtKB/Swiss-Prot ID
| Q04671 |
| UniProtKB/Swiss-Prot Entry Name
| P_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| NM_000275.2 |
| GeneCard ID
| OCA2 |
| GenAtlas ID
| OCA2 |
| HGNC ID
| HGNC:8101 |
| References |
|---|
| General References
| Not Available |