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Q76G19

- PDZD4_HUMAN

UniProt

Q76G19 - PDZD4_HUMAN

Protein

PDZ domain-containing protein 4

Gene

PDZD4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    PDZ domain-containing protein 4
    Alternative name(s):
    PDZ domain-containing RING finger protein 4-like protein
    Gene namesi
    Name:PDZD4
    Synonyms:KIAA1444, PDZK4, PDZRN4L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:21167. PDZD4.

    Subcellular locationi

    Cytoplasmcell cortex 1 Publication
    Note: Mainly localized under the plasma membrane.

    GO - Cellular componenti

    1. cell cortex Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134896313.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 769769PDZ domain-containing protein 4PRO_0000055921Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei236 – 2361Phosphoserine1 Publication
    Modified residuei454 – 4541Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ76G19.
    PRIDEiQ76G19.

    PTM databases

    PhosphoSiteiQ76G19.

    Expressioni

    Tissue specificityi

    Brain-specific. Expressed in fetal and adult brain. Up-regulated in synovial carcinomas.1 Publication

    Gene expression databases

    ArrayExpressiQ76G19.
    BgeeiQ76G19.
    CleanExiHS_PDZD4.
    GenevestigatoriQ76G19.

    Organism-specific databases

    HPAiHPA003878.

    Interactioni

    Protein-protein interaction databases

    BioGridi121646. 2 interactions.
    IntActiQ76G19. 2 interactions.
    MINTiMINT-2875333.
    STRINGi9606.ENSP00000164640.

    Structurei

    3D structure databases

    ProteinModelPortaliQ76G19.
    SMRiQ76G19. Positions 11-52, 118-226.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini130 – 21485PDZPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili389 – 41931Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG318730.
    HOGENOMiHOG000231379.
    HOVERGENiHBG053554.
    KOiK15682.
    OMAiCLREQQN.
    PhylomeDBiQ76G19.
    TreeFamiTF315909.

    Family and domain databases

    Gene3Di2.30.42.10. 2 hits.
    InterProiIPR001478. PDZ.
    [Graphical view]
    PfamiPF00595. PDZ. 1 hit.
    [Graphical view]
    SMARTiSM00228. PDZ. 1 hit.
    [Graphical view]
    SUPFAMiSSF50156. SSF50156. 1 hit.
    PROSITEiPS50106. PDZ. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q76G19-1) [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

    MGCNMCVVQK PEEQYKVMLQ VNGKELSKLS QEQTLQALRS SKEPLVIQVL    50
    RRSPRLRGDS SCHDLQLVDS GTQTDITFEH IMALGKLRPP TPPMVILEPP 100
    PISHEYYDPA EFMEGGPQEA DRLDELEYEE VELYKSSHRD KLGLMVCYRT 150
    DDEEDLGIYV GEVNPNSIAA KDGRIREGDR IIQINGVDVQ NREEAVAILS 200
    QEENTNISLL VARPESQLAK RWKDSDRDDF LDDFGSENEG ELRARKLKSP 250
    PAQQPGNEEE KGAPDAGPGL SNSQELDSGV GRTDESTRNE ESSEHDLLGD 300
    EPPSSTNTPG SLRKFGLQGD ALQSRDFHFS MDSLLAEGAG LGGGDVPGLT 350
    DEEYERYREL LEIKCHLENG NQLGLLFPRA SGGNSALDVN RNESLGHEMA 400
    MLEEELRHLE FKCRNILRAQ KMQQLRERCM KAWLLEEESL YDLAASEPKK 450
    HELSDISELP EKSDKDSTSA YNTGESCRST PLLVEPLPES PLRRAMAGNS 500
    NLNRTPPGPA VATPAKAAPP PGSPAKFRSL SRDPEAGRRQ HAEERGRRNP 550
    KTGLTLERVG PESSPYLSRR HRGQGQEGEH YHSCVQLAPT RGLEELGHGP 600
    LSLAGGPRVG GVAAAATEAP RMEWKVKVRS DGTRYVAKRP VRDRLLKARA 650
    LKIREERSGM TTDDDAVSEM KMGRYWSKEE RKQHLIRARE QRKRREFMMQ 700
    SRLECLREQQ NGDSKPELNI IALSHRKTMK KRNKKILDNW ITIQEMLAHG 750
    ARSADGKRVY NPLLSVTTV 769
    Length:769
    Mass (Da):86,171
    Last modified:July 5, 2004 - v1
    Checksum:i9C6788FD289154CD
    GO
    Isoform 2 (identifier: Q76G19-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         21-129: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:660
    Mass (Da):73,877
    Checksum:i781514567F6CB369
    GO

    Sequence cautioni

    The sequence BAC03666.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti374 – 3741G → D in BAC03666. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391R → C in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035952

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei21 – 129109Missing in isoform 2. 1 PublicationVSP_054521Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB103478 mRNA. Translation: BAD16631.1.
    AK091444 mRNA. Translation: BAC03666.1. Different initiation.
    AK127016 mRNA. Translation: BAG54423.1.
    U52111 Genomic DNA. No translation available.
    CH471172 Genomic DNA. Translation: EAW72805.1.
    BC002606 mRNA. Translation: AAH02606.2.
    BC080584 mRNA. Translation: AAH80584.1.
    BC143459 mRNA. Translation: AAI43460.1.
    AB040877 mRNA. Translation: BAA95968.1.
    CCDSiCCDS14732.1. [Q76G19-1]
    RefSeqiNP_115901.2. NM_032512.2. [Q76G19-1]
    UniGeneiHs.92732.

    Genome annotation databases

    EnsembliENST00000164640; ENSP00000164640; ENSG00000067840. [Q76G19-1]
    ENST00000544474; ENSP00000442033; ENSG00000067840. [Q76G19-2]
    GeneIDi57595.
    KEGGihsa:57595.
    UCSCiuc004fiz.1. human. [Q76G19-1]

    Polymorphism databases

    DMDMi62288846.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB103478 mRNA. Translation: BAD16631.1 .
    AK091444 mRNA. Translation: BAC03666.1 . Different initiation.
    AK127016 mRNA. Translation: BAG54423.1 .
    U52111 Genomic DNA. No translation available.
    CH471172 Genomic DNA. Translation: EAW72805.1 .
    BC002606 mRNA. Translation: AAH02606.2 .
    BC080584 mRNA. Translation: AAH80584.1 .
    BC143459 mRNA. Translation: AAI43460.1 .
    AB040877 mRNA. Translation: BAA95968.1 .
    CCDSi CCDS14732.1. [Q76G19-1 ]
    RefSeqi NP_115901.2. NM_032512.2. [Q76G19-1 ]
    UniGenei Hs.92732.

    3D structure databases

    ProteinModelPortali Q76G19.
    SMRi Q76G19. Positions 11-52, 118-226.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121646. 2 interactions.
    IntActi Q76G19. 2 interactions.
    MINTi MINT-2875333.
    STRINGi 9606.ENSP00000164640.

    PTM databases

    PhosphoSitei Q76G19.

    Polymorphism databases

    DMDMi 62288846.

    Proteomic databases

    PaxDbi Q76G19.
    PRIDEi Q76G19.

    Protocols and materials databases

    DNASUi 57595.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000164640 ; ENSP00000164640 ; ENSG00000067840 . [Q76G19-1 ]
    ENST00000544474 ; ENSP00000442033 ; ENSG00000067840 . [Q76G19-2 ]
    GeneIDi 57595.
    KEGGi hsa:57595.
    UCSCi uc004fiz.1. human. [Q76G19-1 ]

    Organism-specific databases

    CTDi 57595.
    GeneCardsi GC0XM153067.
    HGNCi HGNC:21167. PDZD4.
    HPAi HPA003878.
    MIMi 300634. gene.
    neXtProti NX_Q76G19.
    PharmGKBi PA134896313.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG318730.
    HOGENOMi HOG000231379.
    HOVERGENi HBG053554.
    KOi K15682.
    OMAi CLREQQN.
    PhylomeDBi Q76G19.
    TreeFami TF315909.

    Miscellaneous databases

    GeneWikii PDZD4.
    GenomeRNAii 57595.
    NextBioi 35481214.
    PROi Q76G19.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q76G19.
    Bgeei Q76G19.
    CleanExi HS_PDZD4.
    Genevestigatori Q76G19.

    Family and domain databases

    Gene3Di 2.30.42.10. 2 hits.
    InterProi IPR001478. PDZ.
    [Graphical view ]
    Pfami PF00595. PDZ. 1 hit.
    [Graphical view ]
    SMARTi SM00228. PDZ. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50156. SSF50156. 1 hit.
    PROSITEi PS50106. PDZ. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of PDZK4, a novel human gene with PDZ domains, that is upregulated in synovial sarcomas."
      Nagayama S., Iiizumi M., Katagiri T., Toguchida J., Nakamura Y.
      Oncogene 23:5551-5557(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    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] (ISOFORM 1).
      Tissue: Brain.
    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 535-769 (ISOFORM 1).
      Tissue: Brain.
    6. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 132-547 (ISOFORM 1/2).
      Tissue: Brain.
    7. "Identification and characterization of human PDZRN4L gene and mouse Pdzrn4l gene in silico."
      Katoh M., Katoh M.
      Int. J. Mol. Med. 13:923-927(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    8. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-236 AND SER-454, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-39.

    Entry informationi

    Entry nameiPDZD4_HUMAN
    AccessioniPrimary (citable) accession number: Q76G19
    Secondary accession number(s): B3KXB1
    , B7ZKY3, Q8NB75, Q9BUH9, Q9P284
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 2005
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 91 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. 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