InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: MLPH

Summary

InnateDB Gene

IDBG-84278.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MLPH

Gene Name

melanophilin

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000115648

Encoded Proteins

IDBP-84280

melanophilin

IDBP-84282

melanophilin

IDBP-292868

melanophilin

IDBP-292866

melanophilin

IDBP-389469

melanophilin

IDBP-389470

melanophilin

IDBP-389473

melanophilin

IDBP-389474

melanophilin

IDBP-389475

melanophilin

IDBP-389476

melanophilin

IDBP-389477

melanophilin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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 of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:237485428-237555318

Strand

Forward strand

Band

q37.3

Transcripts

ENST00000338530	ENSP00000341845
ENST00000264605	ENSP00000264605
ENST00000410032	ENSP00000386338
ENST00000409373	ENSP00000386780
ENST00000422695	ENSP00000409170
ENST00000429898	ENSP00000403909
ENST00000437893	ENSP00000412438
ENST00000436965	ENSP00000405337
ENST00000415753	ENSP00000409897
ENST00000432475	ENSP00000393010
ENST00000434770	ENSP00000399081
ENST00000468178
ENST00000477222
ENST00000469619
ENST00000477501
ENST00000495439
ENST00000464123
ENST00000478712
ENST00000494110
ENST00000485956
ENST00000482528
ENST00000477457
ENST00000489967

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding
GO:0017022	myosin binding
GO:0017137	Rab GTPase binding
GO:0031489	myosin V binding
GO:0046872	metal ion binding
GO:0051010	microtubule plus-end binding

Biological Process

GO:0006605	protein targeting
GO:0006886	intracellular protein transport
GO:0030318	melanocyte differentiation
GO:0032400	melanosome localization
GO:0043473	pigmentation

Cellular Component

GO:0001725	stress fiber
GO:0005815	microtubule organizing center
GO:0015629	actin cytoskeleton
GO:0030864	cortical actin cytoskeleton
GO:0035371	microtubule plus-end

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000026303

View Gene Order

ENSBTAG00000000634

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.102406

RefSeq

NM_001042467 NM_001281473 NM_001281474 NM_024101

HUGO

OMIM

CCDS

CCDS2518 CCDS42836 CCDS63172 CCDS63173

HPRD

09409

IMGT

EMBL

GenPept

RNA Seq Atlas