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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MLPH Gene

protein-coding GIFtS: 57
GCID: GC02P238411

melanophilin

Explore 11 diseases affiliated with
MLPH via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Melanophilin¹		L1Rk3¹
Exophilin-3³		Ln¹
Slp Homolog Lacking C2 Domains A² ³		SLAC2-A²
Synaptotagmin-Like Protein 2a² ³		Exophilin-3³
Slac-2a¹		SLAC2A³
L(1)-3Rk¹		SlaC2-A¹

External Ids:	HGNC: 29643¹	Entrez Gene: 79083²	Ensembl: ENSG00000115648⁷	OMIM: 606526⁵	UniProtKB: Q9BV36³

Export aliases for MLPH gene to outside databases

Previous GC identifers: GC02P236433 GC02P237077 GC02P238682 GC02P238177 GC02P238060 GC02P230187

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MLPH:

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)

UniProtKB/Swiss-Prot: MELPH_HUMAN, Q9BV36

Function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the

motor protein MYO5A

Gene Wiki entry for MLPH (Melanophilin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005120.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MLPH gene promoter:
Max1 Max Pax-5 Evi-1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MLPH promoter sequence

Search SABiosciences Chromatin IP Primers for MLPH

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLPH

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.3 Ensembl cytogenetic band: 2q37.3 HGNC cytogenetic band: 2q37.2

MLPH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLPH gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P238411: view genomic region (about GC identifiers)

Start:	238,394,071 bp from pter	End:	238,463,961 bp from pter
Size:	69,891 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MELPH_HUMAN, Q9BV36 (See protein sequence)

Recommended Name: Melanophilin

Size: 600 amino acids; 65949 Da

Subunit: Binds RAB27A that has been activated by GTP-binding via its N-terminus. Binds MYO5A via its C-terminal coiled

coil domain

Subcellular location: Cytoplasm

Secondary accessions: Q9HA71

Alternative splicing: 3 isoforms: Q9BV36-1 Q9BV36-2 Q9BV36-3

Explore the universe of human proteins at neXtProt for MLPH: NX_Q9BV36

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BV36

MLPH Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001035932.1 NP_077006.1

ENSEMBL proteins:

ENSP00000409170 ENSP00000403909 ENSP00000386338 ENSP00000264605 ENSP00000341845

ENSP00000386780 ENSP00000412438 ENSP00000405337 ENSP00000409897 ENSP00000393010

ENSP00000399081 ENSP00000414849

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	Novus Biologicals MLPH Protein Novus Biologicals MLPH Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MLPH

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	IEA	--
GO:0005622	intracellular	--	--
GO:0005815	microtubule organizing center	IEA	--
GO:0015629	actin cytoskeleton	--	--
GO:0030864	cortical actin cytoskeleton	IEA	--

MLPH for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MLPH

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MLPH for domains About GeneDecksing

4 InterPro domains/families:

IPR006788 Myrip/Melanophilin

IPR013083 Znf_RING/FYVE/PHD

IPR010911 Rab-bd_domain

IPR011011 Znf_FYVE_PHD

Graphical View of Domain Structure for InterPro Entry Q9BV36

ProtoNet protein and cluster: Q9BV36

1 Blocks protein family: IPB000306 Zn-finger

UniProtKB/Swiss-Prot: MELPH_HUMAN, Q9BV36

Similarity: Contains 1 FYVE-type zinc finger

Similarity: Contains 1 RabBD (Rab-binding) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MELPH_HUMAN, Q9BV36

Function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the

motor protein MYO5A

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MLPH Browse MicroRNA Expression Plasmids
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Gene Editing
Products:

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MLPH
		Search LifeMap BioReagents cell lines for MLPH

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLPH

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005515	protein binding	--	--
GO:0017022	myosin binding	--	--
GO:0017137	Rab GTPase binding	IEA	--
GO:0031489	myosin V binding	IEA	--

MLPH for ontologies About GeneDecksing

Animal Models:
6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Mlph):

homeostasis/metabolism	immune system	integument	mortality/aging	pigmentation
vision/eye

MLPH for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Deregulation of Rab and Rab Effector Genes in Bladder Cancer

Deregulation of Rab and Rab Effector Genes in Bladder Cancer

1.00

1 BioSystems Pathway for MLPH

Deregulation of Rab and Rab Effector Genes in Bladder Cancer

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MLPH

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/9 Interacting proteins for MLPH (Q9BV36^{2, 3} ENSP00000264605⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RAB27A	P51159²^,³, ENSP00000337761⁴	MINT-3388073 MINT-3388107 I2D: score=6 STRING: ENSP00000337761
MYO5A	Q9Y4I1²^,³, ENSP00000382177⁴	MINT-3388073 I2D: score=4 STRING: ENSP00000382177
RAB27B	O00194³, ENSP00000262094⁴	I2D: score=3 STRING: ENSP00000262094
ACTA1	P68133³, ENSP00000355645⁴	I2D: score=1 STRING: ENSP00000355645
RAB10	P61026³, ENSP00000264710⁴	I2D: score=1 STRING: ENSP00000264710

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006605	protein targeting	IEA	--
GO:0006886	intracellular protein transport	--	--
GO:0030318	melanocyte differentiation	IEA	--
GO:0032400	melanosome localization	IEA	--
GO:0043473	pigmentation	--	--

MLPH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MLPH

2 HMDB Compounds for MLPH About this table

Compound	Synonyms	CAS #	PubMed Ids
Aldosterone	(+)-Aldosterone (see all 22)	52-39-1	17609287
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

Search CenterWatch for drugs/clinical trials and news about MLPH / MELPH

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MLPH gene (2 alternative transcripts):

NM_001042467.1 NM_024101.5

Unigene Cluster for MLPH:

Melanophilin

Hs.102406 [show with all ESTs]

Unigene Representative Sequence: NM_024101

18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):

ENST00000422695 ENST00000429898 ENST00000410032 ENST00000264605(uc002vws.3 uc002vwt.3 uc002vwu.3 uc002vwv.3 uc002vww.3 uc002vwx.3)

ENST00000477222 ENST00000468178(uc010fyt.1) ENST00000338530 ENST00000469619

ENST00000409373 ENST00000477501 ENST00000495439 ENST00000464123 ENST00000478712

ENST00000494110 ENST00000437893 ENST00000485956 ENST00000482528 ENST00000436965

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MLPH Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLPH
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Additional cDNA sequence:

AK022207.1 AK094168.1 AK096789.1 AK225381.1 AK292929.1 AK296745.1 AK310821.1 AY358857.1

BC001653.2 BC051269.1

24/26 DOTS entries (see all 26):

DT.97794091 DT.120983267 DT.416889 DT.97862582 DT.100029602 DT.95250907 DT.100654074 DT.101979990

DT.95153513 DT.95153510 DT.95116603 DT.95153491 DT.97767981 DT.120983279 DT.40108010 DT.95153512

DT.91821953 DT.100844345 DT.120983262 DT.95153505 DT.100654073 DT.120983257 DT.91654059 DT.91759416

24/310 AceView cDNA sequences (see all 310):

BU956002 BQ679446 T89310 BU733235 CA433246 BE162220 BC001653 CB149499

CB306782 BU155719 AA625605 CA420914 AI367634 BQ440943 CA421788 CB850771

AI536570 CB850528 AA160767 BM828561 CA307535 BU174025 AW970464 AA528058

GeneLoc Exon Structure

5/22 Alternative Splicing Database (ASD) splice patterns (SP) for MLPH (see all 22) About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4a	·	4b	^	5	^	6a	·	6b	·	6c	^	7	^	8	^	9a	·	9b	·	9c	^	10a	·	10b	·	10c	^	11a	·	11b	^	12a	·	12b	^	13	^	14	^	15	^
SP1:															-		-										-		-														-								-
SP2:															-		-										-		-														-						-		-
SP3:					-		-								-		-										-		-										-		-		-		-		-		-		-
SP4:																											-		-														-						-		-
SP5:																																											-						-		-

ExUns:	16a	·	16b	·	16c	·	16d	^	17a	·	17b	^	18	^	19	^	20a	·	20b	^	21	^	22a	·	22b	·	22c	^	23	^	24a	·	24b	·	24c
SP1:															-		-						-						-
SP2:															-		-						-						-
SP3:															-		-						-						-
SP4:									-		-				-		-						-						-
SP5:															-		-						-						-

ECgene alternative splicing isoforms for MLPH

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MLPH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATGGAATGG

About this image

MLPH expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Alveolar type II cells (Derivation of mature...)

Lung

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MLPH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MLPH

SOURCE GeneReport for Unigene cluster: Hs.102406

SABiosciences Custom PCR Arrays for MLPH

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MLPH Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLPH

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLPH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MLPH gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MLPH¹	melanophilin	60.16(n) 51.03(a)		424019 NM_001115080.1 NP_001108552.1
lizard (Anolis carolinensis)	Reptilia	MLPH⁶	--	40(a)	1 ↔ 1	1(123512003-123588778)
zebrafish (Danio rerio)	Actinopterygii	mlphb¹	melanophilin b	53.35(n) 44.71(a)		561905 NM_001079679.1 NP_001073147.1

ENSEMBL Gene Tree for MLPH (if available)
TreeFam Gene Tree for MLPH (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MLPH gene

MOBP² MYRIP²

2 SIMAP similar genes for MLPH using alignment to 12 protein entries: MELPH_HUMAN (see all proteins):

MYRIP SYTL4

MLPH for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113649975^1,2	C,F	--	230246714(+)	`GTGTTC/TAGGTG`	1	--	int¹		2		WA NA	4
rs55753545^1,2	C	--	230246719(+)	`TAGGTA/GGAGTG`	1	--	int¹		0	--	--	--	--
rs76465613^1,2	C,F,	--	238393891(+)	`GCAGAA/GTCATT`	2	--	us2k¹		1		WA	118
rs190189882^1,2		--	238394027(+)	`ATATTC/TACCAA`	2	--	us2k¹		0	--	--	--	--
rs75660372^1,2		--	238394083(+)	`CACAAC/TACCCT`	2	--	us2k¹		1		WA	118
rs80205733^1,2	F,	--	238394143(+)	`TCAGTA/GGAAGA`	2	--	us2k¹		1		WA	118
rs200049353^1,2		--	238394243(+)	`AACCT-/CACACAC`	2	--	us2k¹		0	--	--	--	--
rs192940303^1,2		--	238394296(+)	`ATGATC/TGCTTT`	2	--	us2k¹		0	--	--	--	--
rs147582262^1,2		--	238394357(+)	`TATACG/TCCTTA`	2	--	us2k¹		0	--	--	--	--
rs184683740^1,2		--	238394444(+)	`GCACTA/GAAGTA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MLPH (238394071 - 238463961 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 25 variations for MLPH
15/17 CNVs (see all 17): 90359 68262 90361 79036 79040 90363 79038 68264 90362 79037 79042 90358 90360 79041 79039
8 Indels: 45970 40430 68263 26599 26602 26601 26600 26598
Human Gene Mutation Database (HGMD): MLPH

Locus Specific Mutation Databases (LSDB): MLPH

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MLPH

DNA2.0 Custom Variant and Variant Library Synthesis for MLPH

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MLPH for disorders           About GeneDecksing

OMIM gene information: 606526
OMIM disorders: 609227
UniProtKB/Swiss-Prot: MELPH_HUMAN, Q9BV36

Defects in MLPH are a cause of Griscelli syndrome type 3 (GS3) [MIM:609227]. GS3 is a rare autosomal recessive

disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair

shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations

11 diseases for MLPH: About MalaCards

griscelli syndrome type 3 griscelli syndrome cauda equina syndrome griscelli syndrome type 2

hemophagocytic lymphohistiocytosis piebaldism autistic disorder benign meningioma

albinism twinning meningioma

1 disease from the University of Copenhagen DISEASES database for MLPH:

Cauda equina syndrome

1 Novoseek disease relationship for MLPH gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
piebaldism	87.1	1	15163896 (1)

Human Genome Epidemiology (HuGE) Navigator: MLPH (1 document)

Export disorders for MLPH gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MLPH gene, integrated from 9 sources (see all 58):
(articles sorted by number of sources associating them with MLPH)

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world of online information

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (PubMed id 12897212)^{1, 2} Menasche G.... de Saint Basile G. (2003)
Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions. (PubMed id 12062444)^{1, 2} Nagashima K....Izumi T. (2002)
A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport. (PubMed id 11980908)^{1, 3} Strom M....Seabra M.C. (2002)
Mutations in Mlph, encoding a member of the Rab effec tor family, cause the melanosome transport defects observed in leaden mice. (PubMed id 11504925)^{1, 3} Matesic L.E....Jenkins N.A. (2001)
In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va. (PubMed id 17045265)^{1, 9} Wu X....Hammer J.A. (2006)
Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. (PubMed id 12531900)^{1, 9} Bahadoran P....Ballotti R. (2003)
Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport. (PubMed id 11856727)^{1, 9} Fukuda M.... Mikoshiba K. (2002)
Synaptotagmin-like protein (Slp) homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A. (PubMed id 12189142)^{1, 9} Fukuda M. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 79083	HGNC: 29643	AceView: MLPH	Ensembl:ENSG00000115648	euGenes: HUgn79083
ECgene: MLPH	H-InvDB: MLPH

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MLPH	Pharmacogenomics, SNPs, Pathways
MLPHbase	http://bioinf.uta.fi/MLPHbase/

Intellectual Property for MLPH gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MLPH gene:
Search GeneIP for patents involving MLPH

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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