MLPH

GENERAL INFORMATION

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Gene name

MLPH

Gene description

Melanophilin

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

10
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (stomach)
GTEx:Tissue enhanced (prostate)

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues showed weak to moderate cytoplasmic and luminal membranous positivity. Glandular cells in gastrointestinal tract and prostate were strongly stained. Most cells in CNS were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 1 antibody.
HPA014685
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (stomach)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (prostate)

Organ

Expression



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 BROWSER

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ENST00000264605
 
ENST00000338530
 
ENST00000409373
 
ENST00000410032
 
ENST00000415753
 
ENST00000422695
 
ENST00000429898
 
ENST00000434770
 
ENST00000436965
 
ENST00000437893
 
 
 
 


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