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Q96MV8

- ZDH15_HUMAN

UniProt

Q96MV8 - ZDH15_HUMAN

Protein

Palmitoyltransferase ZDHHC15

Gene

ZDHHC15

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Palmitoyltransferase specific for GAP43 and DLG4/PSD95.By similarity

    Catalytic activityi

    Palmitoyl-CoA + [protein]-L-cysteine = [protein]-S-palmitoyl-L-cysteine + CoA.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri129 – 17951DHHC-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. palmitoyltransferase activity Source: UniProt
    2. protein-cysteine S-palmitoyltransferase activity Source: UniProtKB-EC
    3. zinc ion binding Source: InterPro

    GO - Biological processi

    1. establishment of protein localization Source: Ensembl
    2. protein palmitoylation Source: UniProt
    3. synaptic vesicle maturation Source: Ensembl

    Keywords - Molecular functioni

    Acyltransferase, Transferase

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Palmitoyltransferase ZDHHC15 (EC:2.3.1.225)
    Alternative name(s):
    Zinc finger DHHC domain-containing protein 15
    Short name:
    DHHC-15
    Gene namesi
    Name:ZDHHC15
    ORF Names:UNQ1969/PRO4501
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:20342. ZDHHC15.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. Golgi apparatus Source: UniProt
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Mental retardation, X-linked 91 (MRX91) [MIM:300577]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Mental retardation

    Organism-specific databases

    MIMi300577. phenotype.
    PharmGKBiPA134945089.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 337337Palmitoyltransferase ZDHHC15PRO_0000212893Add
    BLAST

    Post-translational modificationi

    Autopalmitoylated.By similarity

    Keywords - PTMi

    Lipoprotein, Palmitate

    Proteomic databases

    PaxDbiQ96MV8.
    PRIDEiQ96MV8.

    PTM databases

    PhosphoSiteiQ96MV8.

    Expressioni

    Tissue specificityi

    Expressed in placenta, liver, lung, kidney, heart and brain.1 Publication

    Gene expression databases

    ArrayExpressiQ96MV8.
    BgeeiQ96MV8.
    CleanExiHS_ZDHHC15.
    GenevestigatoriQ96MV8.

    Organism-specific databases

    HPAiHPA003618.

    Interactioni

    Protein-protein interaction databases

    BioGridi127719. 1 interaction.
    STRINGi9606.ENSP00000362465.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96MV8.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 4121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei48 – 6821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei177 – 19721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei211 – 23121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domaini

    The DHHC domain is required for palmitoyltransferase activity.

    Sequence similaritiesi

    Belongs to the DHHC palmitoyltransferase family.Curated
    Contains 1 DHHC-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri129 – 17951DHHC-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Transmembrane, Transmembrane helix, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5273.
    HOGENOMiHOG000234777.
    HOVERGENiHBG055108.
    InParanoidiQ96MV8.
    OMAiFELCLFT.
    OrthoDBiEOG71ZP21.
    PhylomeDBiQ96MV8.
    TreeFamiTF316044.

    Family and domain databases

    InterProiIPR001594. Znf_DHHC_palmitoyltrfase.
    [Graphical view]
    PfamiPF01529. zf-DHHC. 1 hit.
    [Graphical view]
    PROSITEiPS50216. ZF_DHHC. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96MV8-1) [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

    MRRGWKMALS GGLRCCRRVL SWVPVLVIVL VVLWSYYAYV FELCLVTVLS    50
    PAEKVIYLIL YHAIFVFFTW TYWKSIFTLP QQPNQKFHLS YTDKERYENE 100
    ERPEVQKQML VDMAKKLPVY TRTGSGAVRF CDRCHLIKPD RCHHCSVCAM 150
    CVLKMDHHCP WVNNCIGFSN YKFFLQFLAY SVLYCLYIAT TVFSYFIKYW 200
    RGELPSVRSK FHVLFLLFVA CMFFVSLVIL FGYHCWLVSR NKTTLEAFCT 250
    PVFTSGPEKN GFNLGFIKNI QQVFGDKKKF WLIPIGSSPG DGHSFPMRSM 300
    NESQNPLLAN EETWEDNEDD NQDYPEGSSS LAVETET 337
    Length:337
    Mass (Da):39,331
    Last modified:December 1, 2001 - v1
    Checksum:i6D7F920921E5D124
    GO
    Isoform 2 (identifier: Q96MV8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         46-54: Missing.
         127-152: AVRFCDRCHLIKPDRCHHCSVCAMCV → GQFIQRQLERQLSKYLRKAKSYMFSN
         153-337: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:143
    Mass (Da):17,255
    Checksum:i3B7A9A07E0690619
    GO
    Isoform 3 (identifier: Q96MV8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         46-54: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:328
    Mass (Da):38,406
    Checksum:iAA13351DA5587183
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei46 – 549Missing in isoform 2 and isoform 3. 2 PublicationsVSP_013206
    Alternative sequencei127 – 15226AVRFC…CAMCV → GQFIQRQLERQLSKYLRKAK SYMFSN in isoform 2. 1 PublicationVSP_013207Add
    BLAST
    Alternative sequencei153 – 337185Missing in isoform 2. 1 PublicationVSP_013208Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358786 mRNA. Translation: AAQ89146.1.
    AK056374 mRNA. Translation: BAB71168.1.
    AK122885 mRNA. Translation: BAG53779.1.
    AL137013, AC020717 Genomic DNA. Translation: CAI40090.1.
    AL391055 Genomic DNA. No translation available.
    BC103980 mRNA. Translation: AAI03981.1.
    BC103981 mRNA. Translation: AAI03982.1.
    BC103982 mRNA. Translation: AAI03983.1.
    CCDSiCCDS14430.1. [Q96MV8-1]
    CCDS55454.1. [Q96MV8-3]
    RefSeqiNP_001139728.1. NM_001146256.1. [Q96MV8-3]
    NP_001139729.1. NM_001146257.1. [Q96MV8-2]
    NP_659406.1. NM_144969.2. [Q96MV8-1]
    XP_006724687.1. XM_006724624.1. [Q96MV8-1]
    UniGeneiHs.253211.

    Genome annotation databases

    EnsembliENST00000373367; ENSP00000362465; ENSG00000102383. [Q96MV8-1]
    ENST00000541184; ENSP00000445420; ENSG00000102383. [Q96MV8-3]
    GeneIDi158866.
    KEGGihsa:158866.
    UCSCiuc004ecg.3. human. [Q96MV8-1]
    uc004ech.3. human. [Q96MV8-3]
    uc004eci.2. human. [Q96MV8-2]

    Polymorphism databases

    DMDMi37999855.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358786 mRNA. Translation: AAQ89146.1 .
    AK056374 mRNA. Translation: BAB71168.1 .
    AK122885 mRNA. Translation: BAG53779.1 .
    AL137013 , AC020717 Genomic DNA. Translation: CAI40090.1 .
    AL391055 Genomic DNA. No translation available.
    BC103980 mRNA. Translation: AAI03981.1 .
    BC103981 mRNA. Translation: AAI03982.1 .
    BC103982 mRNA. Translation: AAI03983.1 .
    CCDSi CCDS14430.1. [Q96MV8-1 ]
    CCDS55454.1. [Q96MV8-3 ]
    RefSeqi NP_001139728.1. NM_001146256.1. [Q96MV8-3 ]
    NP_001139729.1. NM_001146257.1. [Q96MV8-2 ]
    NP_659406.1. NM_144969.2. [Q96MV8-1 ]
    XP_006724687.1. XM_006724624.1. [Q96MV8-1 ]
    UniGenei Hs.253211.

    3D structure databases

    ProteinModelPortali Q96MV8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127719. 1 interaction.
    STRINGi 9606.ENSP00000362465.

    PTM databases

    PhosphoSitei Q96MV8.

    Polymorphism databases

    DMDMi 37999855.

    Proteomic databases

    PaxDbi Q96MV8.
    PRIDEi Q96MV8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373367 ; ENSP00000362465 ; ENSG00000102383 . [Q96MV8-1 ]
    ENST00000541184 ; ENSP00000445420 ; ENSG00000102383 . [Q96MV8-3 ]
    GeneIDi 158866.
    KEGGi hsa:158866.
    UCSCi uc004ecg.3. human. [Q96MV8-1 ]
    uc004ech.3. human. [Q96MV8-3 ]
    uc004eci.2. human. [Q96MV8-2 ]

    Organism-specific databases

    CTDi 158866.
    GeneCardsi GC0XM074588.
    HGNCi HGNC:20342. ZDHHC15.
    HPAi HPA003618.
    MIMi 300576. gene.
    300577. phenotype.
    neXtProti NX_Q96MV8.
    PharmGKBi PA134945089.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5273.
    HOGENOMi HOG000234777.
    HOVERGENi HBG055108.
    InParanoidi Q96MV8.
    OMAi FELCLFT.
    OrthoDBi EOG71ZP21.
    PhylomeDBi Q96MV8.
    TreeFami TF316044.

    Miscellaneous databases

    ChiTaRSi ZDHHC15. human.
    GenomeRNAii 158866.
    NextBioi 87835.
    PROi Q96MV8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96MV8.
    Bgeei Q96MV8.
    CleanExi HS_ZDHHC15.
    Genevestigatori Q96MV8.

    Family and domain databases

    InterProi IPR001594. Znf_DHHC_palmitoyltrfase.
    [Graphical view ]
    Pfami PF01529. zf-DHHC. 1 hit.
    [Graphical view ]
    PROSITEi PS50216. ZF_DHHC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    2. "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 1 AND 3).
      Tissue: Brain and Teratocarcinoma.
    3. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      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] (ISOFORM 1).
    5. "Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation."
      Mansouri M.R., Marklund L., Gustavsson P., Davey E., Carlsson B., Larsson C., White I., Gustavson K.-H., Dahl N.
      Eur. J. Hum. Genet. 13:970-977(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, DISEASE.

    Entry informationi

    Entry nameiZDH15_HUMAN
    AccessioniPrimary (citable) accession number: Q96MV8
    Secondary accession number(s): B3KVG7, Q3SY30, Q6UWH3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 24, 2003
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 99 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 X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3