MLPH

GENE INFORMATION

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Gene name

MLPH (HGNC Symbol)

Synonyms

exophilin-3, l(1)-3Rk, l1Rk3, ln, Slac-2a

Description

Melanophilin (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

Chromosome

2

Cytoband

q37.3

Chromosome location (bp)

237485428 - 237555318

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000115648 (version 78.38)

Entrez gene

79083

UniProt

Q9BV36 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BV36

Antibodypedia

MLPH antibodies
 

PROTEIN VIEW

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MLPH-001
 
MLPH-002
 
MLPH-004
 
MLPH-005
 
MLPH-008
 
MLPH-009
 
MLPH-010
 
MLPH-018
 
MLPH-019
 
MLPH-022
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MLPH-001 ENSP00000264605
ENST00000264605
Q9BV36
Show all »
Show » Show » 600 65.9 No 0
MLPH-002 ENSP00000386338
ENST00000410032
Q9BV36
Show all »
Show » Show » 457 50.7 No 0
MLPH-004 ENSP00000341845
ENST00000338530
Q9BV36
Show all »
Show » Show » 572 62.8 No 0
MLPH-005 ENSP00000386780
ENST00000409373
Q9BV36
Show all »
Show » Show » 480 52.6 No 0
MLPH-008 ENSP00000412438
ENST00000437893
H7C3K9
Show all »
Show » 360 39.5 No 0
MLPH-009 ENSP00000409170
ENST00000422695
C9JKV5
Show all »
Show » Show » 131 15.4 No 0
MLPH-010 ENSP00000403909
ENST00000429898
C9JI01
Show all »
Show » Show » 70 8.2 No 0
MLPH-018 ENSP00000405337
ENST00000436965
Show » 204 22.2 No 0
MLPH-019 ENSP00000409897
ENST00000415753
Show » 236 25.8 No 0
MLPH-022 ENSP00000399081
ENST00000434770
H7C190
Show all »
Show » 145 16 No 0