| Identification |
| HMDB Protein ID
| CDBP03693 |
| Secondary Accession Numbers
| Not Available |
| Name
| Melanophilin |
| Description
| Not Available |
| Synonyms
|
- Exophilin-3
- SlaC2-a
- Slp homolog lacking C2 domains a
- Synaptotagmin-like protein 2a
|
| Gene Name
| MLPH |
| Protein Type
| Metal Binding |
| Biological Properties |
| General Function
| Involved in Rab GTPase binding |
| Specific Function
| Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A |
| GO Classification
|
| Function |
| small gtpase regulator activity |
| ion binding |
| cation binding |
| metal ion binding |
| binding |
| transition metal ion binding |
| zinc ion binding |
| enzyme regulator activity |
| rab gtpase binding |
| nucleoside-triphosphatase regulator activity |
| gtpase regulator activity |
| Process |
| establishment of localization |
| transport |
| protein transport |
| intracellular protein transport |
|
| Cellular Location
|
- Cytoplasm
|
| Pathways
|
Not Available
|
| Gene Properties |
| Chromosome Location
| Chromosome:2 |
| Locus
| 2q37.3 |
| SNPs
| MLPH |
| Gene Sequence
|
>1803 bp
ATGGGGAAGAAACTGGATCTTTCCAAGCTCACTGATGAAGAGGCCCAGCATGTCTTGGAA
GTTGTTCAACGAGATTTTGACCTCCGAAGGAAAGAAGAGGAACGGCTAGAGGCGTTGAAG
GGCAAGATTAAGAAGGAAAGCTCCAAGAGGGAGCTGCTTTCCGACACTGCCCATCTGAAC
GAGACCCACTGCGCCCGCTGCCTGCAGCCCTACCAGCTGCTTGTGAATAGCAAAAGGCAG
TGCCTGGAATGTGGCCTCTTCACCTGCAAAAGCTGTGGCCGCGTCCACCCGGAGGAGCAG
GGCTGGATCTGTGACCCCTGCCATCTGGCCAGAGTCGTGAAGATCGGCTCACTGGAGTGG
TACTATGAGCATGTGAAAGCCCGCTTCAAGAGGTTCGGAAGTGCCAAGGTCATCCGGTCC
CTCCACGGGCGGCTGCAGGGTGGAGCTGGGCCTGAACTGATATCTGAAGAGAGAAGTGGA
GACAGCGACCAGACAGATGAGGATGGAGAACCTGGCTCAGAGGCCCAGGCCCAGGCCCAG
CCCTTTGGCAGCAAAAAAAAGCGCCTCCTCTCCGTCCACGACTTCGACTTCGAGGGAGAC
TCAGATGACTCCACTCAGCCTCAAGGTCACTCCCTGCACCTGTCCTCAGTCCCTGAGGCC
AGGGACAGCCCACAGTCCCTCACAGATGAGTCCTGCTCAGAGAAGGCAGCCCCTCACAAG
GCTGAGGGCCTGGAGGAGGCTGATACTGGGGCCTCTGGGTGCCACTCCCATCCGGAAGAG
CAGCCGACCAGCATCTCACCTTCCAGACACGGCGCCCTGGCTGAGCTCTGCCCGCCTGGA
GGCTCCCACAGGATGGCCCTGGGGACTGCTGCTGCACTCGGGTCGAATGTCATCAGGAAT
GAGCAGCTGCCCCTGCAGTACTTGGCCGATGTGGACACCTCTGATGAGGAAAGCATCCGG
GCTCACGTGATGGCCTCCCACCATTCCAAGCGGAGAGGCCGGGCGTCTTCTGAGAGTCAG
ATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAAC
ACAGTTGTGCCTCCCTTGGCCAAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTA
GAGGAGGAGGCCCTGAGGAGGAAGCTGGAGGAGCTGACCAGCAACGTCAGTGACCAGGAG
ACCTCGTCCGAGGAGGAGGAAGCCAAGGACGAAAAGGCAGAGCCCAACAGGGACAAATCA
GTTGGGCCTCTCCCCCAGGCGGACCCGGAGGTGGGCACGGCTGCCCATCAAACCAACAGA
CAGGAAAAAAGCCCCCAGGACCCTGGGGACCCCGTCCAGTACAACAGGACCACAGATGAG
GAGCTGTCAGAGCTGGAGGACAGAGTGGCAGTGACGGCCTCAGAAGTCCAGCAGGCAGAG
AGCGAGGTTTCAGACATTGAATCCAGGATTGCAGCCCTGAGGGCCGCAGGGCTCACGGTG
AAGCCCTCGGGAAAGCCCCGGAGGAAGTCAAACCTCCCGATATTTCTCCCTCGAGTGGCT
GGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGCA
ATGGCTGTGCCCTATCTTCTGAGAAGAAAGTTCAGTAATTCCCTGAAAAGTCAAGGTAAA
GATGATGATTCTTTTGATCGGAAATCAGTGTACCGAGGCTCGCTGACACAGAGAAACCCC
AACGCGAGGAAAGGAATGGCCAGCCACACCTTCGCGAAACCTGTGGTGGCCCACCAGTCC
TAA
|
| Protein Properties |
| Number of Residues
| 600 |
| Molecular Weight
| 65948.5 |
| Theoretical pI
| 5.98 |
| Pfam Domain Function
|
|
| Signals
|
|
|
Transmembrane Regions
|
|
| Protein Sequence
|
>Melanophilin
MGKKLDLSKLTDEEAQHVLEVVQRDFDLRRKEEERLEALKGKIKKESSKRELLSDTAHLN
ETHCARCLQPYQLLVNSKRQCLECGLFTCKSCGRVHPEEQGWICDPCHLARVVKIGSLEW
YYEHVKARFKRFGSAKVIRSLHGRLQGGAGPELISEERSGDSDQTDEDGEPGSEAQAQAQ
PFGSKKKRLLSVHDFDFEGDSDDSTQPQGHSLHLSSVPEARDSPQSLTDESCSEKAAPHK
AEGLEEADTGASGCHSHPEEQPTSISPSRHGALAELCPPGGSHRMALGTAAALGSNVIRN
EQLPLQYLADVDTSDEESIRAHVMASHHSKRRGRASSESQIFELNKHISAVECLLTYLEN
TVVPPLAKGLGAGVRTEADVEEEALRRKLEELTSNVSDQETSSEEEEAKDEKAEPNRDKS
VGPLPQADPEVGTAAHQTNRQEKSPQDPGDPVQYNRTTDEELSELEDRVAVTASEVQQAE
SEVSDIESRIAALRAAGLTVKPSGKPRRKSNLPIFLPRVAGKLGKRPEDPNADPSSEAKA
MAVPYLLRRKFSNSLKSQGKDDDSFDRKSVYRGSLTQRNPNARKGMASHTFAKPVVAHQS
|
| External Links |
| GenBank ID Protein
| 13129108 |
| UniProtKB/Swiss-Prot ID
| Q9BV36 |
| UniProtKB/Swiss-Prot Entry Name
| MELPH_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| NM_024101.5 |
| GeneCard ID
| MLPH |
| GenAtlas ID
| MLPH |
| HGNC ID
| HGNC:29643 |
| References |
| General References
| Not Available |