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Q9BV36 (MELPH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Melanophilin
Alternative name(s):
Exophilin-3
Slp homolog lacking C2 domains a
Short name=SlaC2-a
Synaptotagmin-like protein 2a
Gene names
Name:MLPH
Synonyms:SLAC2A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length600 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. Ref.4

Subunit structure

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.

Involvement in disease

Griscelli syndrome 3 (GS3) [MIM:609227]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Contains 1 FYVE-type zinc finger.

Contains 1 RabBD (Rab-binding) domain.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BV36-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9BV36-2)

The sequence of this isoform differs from the canonical sequence as follows:
     341-368: Missing.
Isoform 3 (identifier: Q9BV36-3)

The sequence of this isoform differs from the canonical sequence as follows:
     186-225: Missing.
     341-368: Missing.
     430-481: Missing.
Isoform 4 (identifier: Q9BV36-4)

The sequence of this isoform differs from the canonical sequence as follows:
     514-551: IFLPRVAGKL...AVPYLLRRKF → ALYEGTLSLC...LNHVASCGNP
     552-600: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 600600Melanophilin
PRO_0000190222

Regions

Domain4 – 124121RabBD
Zinc finger64 – 10744FYVE-type
Coiled coil373 – 496124 Potential

Natural variations

Alternative sequence186 – 22540Missing in isoform 3.
VSP_042158
Alternative sequence341 – 36828Missing in isoform 2 and isoform 3.
VSP_007554
Alternative sequence430 – 48152Missing in isoform 3.
VSP_042159
Alternative sequence514 – 55138IFLPR…LRRKF → ALYEGTLSLCSEDLKHTHPD SVKSKRSRLNHVASCGNP in isoform 4.
VSP_054367
Alternative sequence552 – 60049Missing in isoform 4.
VSP_054368
Natural variant351R → W in GS3; abolishes RAB27A binding. Ref.5
VAR_018724
Natural variant1391R → W.
Corresponds to variant rs2292880 [ dbSNP | Ensembl ].
VAR_015690
Natural variant1531L → P.
Corresponds to variant rs3751109 [ dbSNP | Ensembl ].
VAR_015691
Natural variant1631D → N.
Corresponds to variant rs3751108 [ dbSNP | Ensembl ].
VAR_015692
Natural variant1721G → D.
Corresponds to variant rs3751107 [ dbSNP | Ensembl ].
VAR_015693
Natural variant2891T → I.
Corresponds to variant rs11883500 [ dbSNP | Ensembl ].
VAR_038410
Natural variant3471H → R.
Corresponds to variant rs2292884 [ dbSNP | Ensembl ].
VAR_015694
Natural variant3741V → A. Ref.1
Corresponds to variant rs3817362 [ dbSNP | Ensembl ].
VAR_015695
Natural variant4511P → S.
Corresponds to variant rs58256353 [ dbSNP | Ensembl ].
VAR_061754

Experimental info

Mutagenesis141E → A: Abolishes RAB27A binding. Ref.4
Mutagenesis241R → A: Decreases RAB27A binding. Ref.4
Mutagenesis321E → A: Abolishes RAB27A binding. Ref.4
Sequence conflict1091L → P in BAB13984. Ref.1
Sequence conflict2531G → R in AK225381. Ref.1
Sequence conflict5771Q → R in BAB13984. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 90F48D0B3250AD98

FASTA60065,949
        10         20         30         40         50         60 
MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN 

        70         80         90        100        110        120 
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW 

       130        140        150        160        170        180 
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ 

       190        200        210        220        230        240 
PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK 

       250        260        270        280        290        300 
AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN 

       310        320        330        340        350        360 
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ IFELNKHISA VECLLTYLEN 

       370        380        390        400        410        420 
TVVPPLAKGL GAGVRTEADV EEEALRRKLE ELTSNVSDQE TSSEEEEAKD EKAEPNRDKS 

       430        440        450        460        470        480 
VGPLPQADPE VGTAAHQTNR QEKSPQDPGD PVQYNRTTDE ELSELEDRVA VTASEVQQAE 

       490        500        510        520        530        540 
SEVSDIESRI AALRAAGLTV KPSGKPRRKS NLPIFLPRVA GKLGKRPEDP NADPSSEAKA 

       550        560        570        580        590        600 
MAVPYLLRRK FSNSLKSQGK DDDSFDRKSV YRGSLTQRNP NARKGMASHT FAKPVVAHQS 

« Hide

Isoform 2 [UniParc].

Checksum: C11EDAE008804679
Show »

FASTA57262,811
Isoform 3 [UniParc].

Checksum: 2F014885D1BF691F
Show »

FASTA48052,642
Isoform 4 [UniParc].

Checksum: 11A629FFCC76DB1D
Show »

FASTA55160,473

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4), VARIANT ALA-374.
Tissue: Kidney, Mammary gland and Tongue.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Kidney and Skin.
[4]"Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions."
Nagashima K., Torii S., Yi Z., Igarashi M., Okamoto K., Takeuchi T., Izumi T.
FEBS Lett. 517:233-238(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: MUTAGENESIS OF GLU-14; ARG-24 AND GLU-32, INTERACTION WITH MYO5A AND RAB27A, FUNCTION.
[5]"Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)."
Menasche G., Ho C.H., Sanal O., Feldmann J., Tezcan I., Ersoy F., Houdusse A., Fischer A., de Saint Basile G.
J. Clin. Invest. 112:450-456(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GS3 TRP-35.
+Additional computationally mapped references.

Web resources

MLPHbase

MLPH mutation db

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK022207 mRNA. Translation: BAB13984.1.
AK296745 mRNA. Translation: BAG59329.1.
AK225381 mRNA. No translation available.
AC104667 Genomic DNA. No translation available.
AC112721 Genomic DNA. No translation available.
BC001653 mRNA. Translation: AAH01653.1.
BC051269 mRNA. Translation: AAH51269.1.
CCDSCCDS2518.1. [Q9BV36-1]
CCDS42836.1. [Q9BV36-2]
CCDS63173.1. [Q9BV36-3]
RefSeqNP_001035932.1. NM_001042467.2. [Q9BV36-2]
NP_001268402.1. NM_001281473.1. [Q9BV36-3]
NP_077006.1. NM_024101.6. [Q9BV36-1]
XP_006712801.1. XM_006712738.1. [Q9BV36-4]
UniGeneHs.102406.

3D structure databases

ProteinModelPortalQ9BV36.
SMRQ9BV36. Positions 4-144.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122531. 8 interactions.
DIPDIP-44046N.
IntActQ9BV36. 2 interactions.
MINTMINT-3388002.
STRING9606.ENSP00000264605.

PTM databases

PhosphoSiteQ9BV36.

Polymorphism databases

DMDM32129730.

Proteomic databases

MaxQBQ9BV36.
PaxDbQ9BV36.
PRIDEQ9BV36.

Protocols and materials databases

DNASU79083.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264605; ENSP00000264605; ENSG00000115648. [Q9BV36-1]
ENST00000338530; ENSP00000341845; ENSG00000115648. [Q9BV36-2]
ENST00000409373; ENSP00000386780; ENSG00000115648. [Q9BV36-3]
ENST00000445024; ENSP00000414849; ENSG00000115648.
GeneID79083.
KEGGhsa:79083.
UCSCuc002vwt.3. human. [Q9BV36-1]
uc002vwu.3. human. [Q9BV36-2]
uc002vwv.3. human. [Q9BV36-3]

Organism-specific databases

CTD79083.
GeneCardsGC02P238411.
HGNCHGNC:29643. MLPH.
HPAHPA014685.
MIM606526. gene.
609227. phenotype.
neXtProtNX_Q9BV36.
Orphanet79478. Griscelli disease type 3.
PharmGKBPA134899891.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG135976.
HOGENOMHOG000089970.
HOVERGENHBG052454.
InParanoidQ9BV36.
OMAHCARCLQ.
OrthoDBEOG76HQ10.
PhylomeDBQ9BV36.
TreeFamTF331599.

Gene expression databases

ArrayExpressQ9BV36.
BgeeQ9BV36.
CleanExHS_MLPH.
GenevestigatorQ9BV36.

Family and domain databases

Gene3D3.30.40.10. 1 hit.
InterProIPR006788. Myrip/Melanophilin.
IPR010911. Znf_FYVE-typ.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamPF02318. FYVE_2. 1 hit.
PF04698. Rab_eff_C. 1 hit.
[Graphical view]
SUPFAMSSF57903. SSF57903. 1 hit.
PROSITEPS50916. RABBD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMLPH. human.
GeneWikiMelanophilin.
GenomeRNAi79083.
NextBio35472891.
PROQ9BV36.
SOURCESearch...

Entry information

Entry nameMELPH_HUMAN
AccessionPrimary (citable) accession number: Q9BV36
Secondary accession number(s): B4DKW7, Q9HA71
Entry history
Integrated into UniProtKB/Swiss-Prot: June 16, 2003
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM