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Q9BV36

- MELPH_HUMAN

UniProt

Q9BV36 - MELPH_HUMAN

Protein

Melanophilin

Gene

MLPH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri64 – 10744FYVE-typeAdd
    BLAST

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. intracellular protein transport Source: InterPro
    2. melanocyte differentiation Source: Ensembl
    3. melanosome localization Source: Ensembl
    4. protein targeting Source: Ensembl

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Melanophilin
    Alternative name(s):
    Exophilin-3
    Slp homolog lacking C2 domains a
    Short name:
    SlaC2-a
    Synaptotagmin-like protein 2a
    Gene namesi
    Name:MLPH
    Synonyms:SLAC2A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:29643. MLPH.

    Subcellular locationi

    GO - Cellular componenti

    1. cortical actin cytoskeleton Source: Ensembl
    2. microtubule organizing center Source: Ensembl
    3. microtubule plus-end Source: Ensembl
    4. stress fiber Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351R → W in GS3; abolishes RAB27A binding. 1 Publication
    VAR_018724

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi14 – 141E → A: Abolishes RAB27A binding. 1 Publication
    Mutagenesisi24 – 241R → A: Decreases RAB27A binding. 1 Publication
    Mutagenesisi32 – 321E → A: Abolishes RAB27A binding. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi609227. phenotype.
    Orphaneti79478. Griscelli disease type 3.
    PharmGKBiPA134899891.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 600600MelanophilinPRO_0000190222Add
    BLAST

    Proteomic databases

    MaxQBiQ9BV36.
    PaxDbiQ9BV36.
    PRIDEiQ9BV36.

    PTM databases

    PhosphoSiteiQ9BV36.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BV36.
    BgeeiQ9BV36.
    CleanExiHS_MLPH.
    GenevestigatoriQ9BV36.

    Organism-specific databases

    HPAiHPA014685.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi122531. 8 interactions.
    DIPiDIP-44046N.
    IntActiQ9BV36. 2 interactions.
    MINTiMINT-3388002.
    STRINGi9606.ENSP00000264605.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BV36.
    SMRiQ9BV36. Positions 4-144.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini4 – 124121RabBDPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili373 – 496124Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 1 FYVE-type zinc finger.Curated
    Contains 1 RabBD (Rab-binding) domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri64 – 10744FYVE-typeAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG135976.
    HOGENOMiHOG000089970.
    HOVERGENiHBG052454.
    InParanoidiQ9BV36.
    OMAiHCARCLQ.
    OrthoDBiEOG76HQ10.
    PhylomeDBiQ9BV36.
    TreeFamiTF331599.

    Family and domain databases

    Gene3Di3.30.40.10. 1 hit.
    InterProiIPR006788. Myrip/Melanophilin.
    IPR010911. Znf_FYVE-typ.
    IPR011011. Znf_FYVE_PHD.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view]
    PfamiPF02318. FYVE_2. 1 hit.
    PF04698. Rab_eff_C. 1 hit.
    [Graphical view]
    SUPFAMiSSF57903. SSF57903. 1 hit.
    PROSITEiPS50916. RABBD. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BV36-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR    50
    ELLSDTAHLN ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ 100
    GWICDPCHLA RVVKIGSLEW YYEHVKARFK RFGSAKVIRS LHGRLQGGAG 150
    PELISEERSG DSDQTDEDGE PGSEAQAQAQ PFGSKKKRLL SVHDFDFEGD 200
    SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK AEGLEEADTG 250
    ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN 300
    EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ IFELNKHISA 350
    VECLLTYLEN TVVPPLAKGL GAGVRTEADV EEEALRRKLE ELTSNVSDQE 400
    TSSEEEEAKD EKAEPNRDKS VGPLPQADPE VGTAAHQTNR QEKSPQDPGD 450
    PVQYNRTTDE ELSELEDRVA VTASEVQQAE SEVSDIESRI AALRAAGLTV 500
    KPSGKPRRKS NLPIFLPRVA GKLGKRPEDP NADPSSEAKA MAVPYLLRRK 550
    FSNSLKSQGK DDDSFDRKSV YRGSLTQRNP NARKGMASHT FAKPVVAHQS 600
    Length:600
    Mass (Da):65,949
    Last modified:June 1, 2001 - v1
    Checksum:i90F48D0B3250AD98
    GO
    Isoform 2 (identifier: Q9BV36-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         341-368: Missing.

    Show »
    Length:572
    Mass (Da):62,811
    Checksum:iC11EDAE008804679
    GO
    Isoform 3 (identifier: Q9BV36-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         186-225: Missing.
         341-368: Missing.
         430-481: Missing.

    Show »
    Length:480
    Mass (Da):52,642
    Checksum:i2F014885D1BF691F
    GO
    Isoform 4 (identifier: Q9BV36-4) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:551
    Mass (Da):60,473
    Checksum:i11A629FFCC76DB1D
    GO
    Isoform 5 (identifier: Q9BV36-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         226-368: Missing.

    Show »
    Length:457
    Mass (Da):50,735
    Checksum:i3DC8A09F42233B47
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti109 – 1091L → P in BAB13984. (PubMed:14702039)Curated
    Sequence conflicti143 – 1431G → R in BAG52834. (PubMed:14702039)Curated
    Sequence conflicti253 – 2531G → R in AK225381. (PubMed:14702039)Curated
    Sequence conflicti577 – 5771Q → R in BAB13984. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351R → W in GS3; abolishes RAB27A binding. 1 Publication
    VAR_018724
    Natural varianti139 – 1391R → W.
    Corresponds to variant rs2292880 [ dbSNP | Ensembl ].
    VAR_015690
    Natural varianti153 – 1531L → P.
    Corresponds to variant rs3751109 [ dbSNP | Ensembl ].
    VAR_015691
    Natural varianti163 – 1631D → N.
    Corresponds to variant rs3751108 [ dbSNP | Ensembl ].
    VAR_015692
    Natural varianti172 – 1721G → D.
    Corresponds to variant rs3751107 [ dbSNP | Ensembl ].
    VAR_015693
    Natural varianti289 – 2891T → I.
    Corresponds to variant rs11883500 [ dbSNP | Ensembl ].
    VAR_038410
    Natural varianti347 – 3471H → R.
    Corresponds to variant rs2292884 [ dbSNP | Ensembl ].
    VAR_015694
    Natural varianti374 – 3741V → A.1 Publication
    Corresponds to variant rs3817362 [ dbSNP | Ensembl ].
    VAR_015695
    Natural varianti451 – 4511P → S.1 Publication
    Corresponds to variant rs58256353 [ dbSNP | Ensembl ].
    VAR_061754

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei186 – 22540Missing in isoform 3. 1 PublicationVSP_042158Add
    BLAST
    Alternative sequencei226 – 368143Missing in isoform 5. 1 PublicationVSP_055730Add
    BLAST
    Alternative sequencei341 – 36828Missing in isoform 2 and isoform 3. 2 PublicationsVSP_007554Add
    BLAST
    Alternative sequencei430 – 48152Missing in isoform 3. 1 PublicationVSP_042159Add
    BLAST
    Alternative sequencei514 – 55138IFLPR…LRRKF → ALYEGTLSLCSEDLKHTHPD SVKSKRSRLNHVASCGNP in isoform 4. 1 PublicationVSP_054367Add
    BLAST
    Alternative sequencei552 – 60049Missing in isoform 4. 1 PublicationVSP_054368Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022207 mRNA. Translation: BAB13984.1.
    AK094168 mRNA. Translation: BAG52834.1.
    AK296745 mRNA. Translation: BAG59329.1.
    AK225381 mRNA. No translation available.
    AC104667 Genomic DNA. No translation available.
    AC112721 Genomic DNA. No translation available.
    CH471063 Genomic DNA. Translation: EAW71112.1.
    BC001653 mRNA. Translation: AAH01653.1.
    BC051269 mRNA. Translation: AAH51269.1.
    CCDSiCCDS2518.1. [Q9BV36-1]
    CCDS42836.1. [Q9BV36-2]
    CCDS63173.1. [Q9BV36-3]
    RefSeqiNP_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]
    UniGeneiHs.102406.

    Genome annotation databases

    EnsembliENST00000264605; ENSP00000264605; ENSG00000115648. [Q9BV36-1]
    ENST00000338530; ENSP00000341845; ENSG00000115648. [Q9BV36-2]
    ENST00000409373; ENSP00000386780; ENSG00000115648. [Q9BV36-3]
    ENST00000410032; ENSP00000386338; ENSG00000115648. [Q9BV36-5]
    GeneIDi79083.
    KEGGihsa:79083.
    UCSCiuc002vwt.3. human. [Q9BV36-1]
    uc002vwu.3. human. [Q9BV36-2]
    uc002vwv.3. human. [Q9BV36-3]

    Polymorphism databases

    DMDMi32129730.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    MLPHbase

    MLPH mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022207 mRNA. Translation: BAB13984.1 .
    AK094168 mRNA. Translation: BAG52834.1 .
    AK296745 mRNA. Translation: BAG59329.1 .
    AK225381 mRNA. No translation available.
    AC104667 Genomic DNA. No translation available.
    AC112721 Genomic DNA. No translation available.
    CH471063 Genomic DNA. Translation: EAW71112.1 .
    BC001653 mRNA. Translation: AAH01653.1 .
    BC051269 mRNA. Translation: AAH51269.1 .
    CCDSi CCDS2518.1. [Q9BV36-1 ]
    CCDS42836.1. [Q9BV36-2 ]
    CCDS63173.1. [Q9BV36-3 ]
    RefSeqi NP_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 ]
    UniGenei Hs.102406.

    3D structure databases

    ProteinModelPortali Q9BV36.
    SMRi Q9BV36. Positions 4-144.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122531. 8 interactions.
    DIPi DIP-44046N.
    IntActi Q9BV36. 2 interactions.
    MINTi MINT-3388002.
    STRINGi 9606.ENSP00000264605.

    PTM databases

    PhosphoSitei Q9BV36.

    Polymorphism databases

    DMDMi 32129730.

    Proteomic databases

    MaxQBi Q9BV36.
    PaxDbi Q9BV36.
    PRIDEi Q9BV36.

    Protocols and materials databases

    DNASUi 79083.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264605 ; ENSP00000264605 ; ENSG00000115648 . [Q9BV36-1 ]
    ENST00000338530 ; ENSP00000341845 ; ENSG00000115648 . [Q9BV36-2 ]
    ENST00000409373 ; ENSP00000386780 ; ENSG00000115648 . [Q9BV36-3 ]
    ENST00000410032 ; ENSP00000386338 ; ENSG00000115648 . [Q9BV36-5 ]
    GeneIDi 79083.
    KEGGi hsa:79083.
    UCSCi uc002vwt.3. human. [Q9BV36-1 ]
    uc002vwu.3. human. [Q9BV36-2 ]
    uc002vwv.3. human. [Q9BV36-3 ]

    Organism-specific databases

    CTDi 79083.
    GeneCardsi GC02P238411.
    HGNCi HGNC:29643. MLPH.
    HPAi HPA014685.
    MIMi 606526. gene.
    609227. phenotype.
    neXtProti NX_Q9BV36.
    Orphaneti 79478. Griscelli disease type 3.
    PharmGKBi PA134899891.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG135976.
    HOGENOMi HOG000089970.
    HOVERGENi HBG052454.
    InParanoidi Q9BV36.
    OMAi HCARCLQ.
    OrthoDBi EOG76HQ10.
    PhylomeDBi Q9BV36.
    TreeFami TF331599.

    Miscellaneous databases

    ChiTaRSi MLPH. human.
    GeneWikii Melanophilin.
    GenomeRNAii 79083.
    NextBioi 35472891.
    PROi Q9BV36.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BV36.
    Bgeei Q9BV36.
    CleanExi HS_MLPH.
    Genevestigatori Q9BV36.

    Family and domain databases

    Gene3Di 3.30.40.10. 1 hit.
    InterProi IPR006788. Myrip/Melanophilin.
    IPR010911. Znf_FYVE-typ.
    IPR011011. Znf_FYVE_PHD.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view ]
    Pfami PF02318. FYVE_2. 1 hit.
    PF04698. Rab_eff_C. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57903. SSF57903. 1 hit.
    PROSITEi PS50916. RABBD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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; 4 AND 5), VARIANTS ALA-374 AND SER-451.
      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.
      , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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.
    5. "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.
    6. "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.

    Entry informationi

    Entry nameiMELPH_HUMAN
    AccessioniPrimary (citable) accession number: Q9BV36
    Secondary accession number(s): B3KSS2
    , B4DKW7, G5E9G5, Q9HA71
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 16, 2003
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 126 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3