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Q76G19

- PDZD4_HUMAN

UniProt

Q76G19 - PDZD4_HUMAN

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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

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. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ76G19.
CleanExiHS_PDZD4.
ExpressionAtlasiQ76G19. baseline and differential.
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.
GeneTreeiENSGT00510000046421.
HOGENOMiHOG000231379.
HOVERGENiHBG053554.
InParanoidiQ76G19.
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

        10         20         30         40         50
MGCNMCVVQK PEEQYKVMLQ VNGKELSKLS QEQTLQALRS SKEPLVIQVL
60 70 80 90 100
RRSPRLRGDS SCHDLQLVDS GTQTDITFEH IMALGKLRPP TPPMVILEPP
110 120 130 140 150
PISHEYYDPA EFMEGGPQEA DRLDELEYEE VELYKSSHRD KLGLMVCYRT
160 170 180 190 200
DDEEDLGIYV GEVNPNSIAA KDGRIREGDR IIQINGVDVQ NREEAVAILS
210 220 230 240 250
QEENTNISLL VARPESQLAK RWKDSDRDDF LDDFGSENEG ELRARKLKSP
260 270 280 290 300
PAQQPGNEEE KGAPDAGPGL SNSQELDSGV GRTDESTRNE ESSEHDLLGD
310 320 330 340 350
EPPSSTNTPG SLRKFGLQGD ALQSRDFHFS MDSLLAEGAG LGGGDVPGLT
360 370 380 390 400
DEEYERYREL LEIKCHLENG NQLGLLFPRA SGGNSALDVN RNESLGHEMA
410 420 430 440 450
MLEEELRHLE FKCRNILRAQ KMQQLRERCM KAWLLEEESL YDLAASEPKK
460 470 480 490 500
HELSDISELP EKSDKDSTSA YNTGESCRST PLLVEPLPES PLRRAMAGNS
510 520 530 540 550
NLNRTPPGPA VATPAKAAPP PGSPAKFRSL SRDPEAGRRQ HAEERGRRNP
560 570 580 590 600
KTGLTLERVG PESSPYLSRR HRGQGQEGEH YHSCVQLAPT RGLEELGHGP
610 620 630 640 650
LSLAGGPRVG GVAAAATEAP RMEWKVKVRS DGTRYVAKRP VRDRLLKARA
660 670 680 690 700
LKIREERSGM TTDDDAVSEM KMGRYWSKEE RKQHLIRARE QRKRREFMMQ
710 720 730 740 750
SRLECLREQQ NGDSKPELNI IALSHRKTMK KRNKKILDNW ITIQEMLAHG
760
ARSADGKRVY NPLLSVTTV
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]
uc011mze.1. human.

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 ]
uc011mze.1. human.

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.
GeneTreei ENSGT00510000046421.
HOGENOMi HOG000231379.
HOVERGENi HBG053554.
InParanoidi Q76G19.
KOi K15682.
OMAi CLREQQN.
PhylomeDBi Q76G19.
TreeFami TF315909.

Miscellaneous databases

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

Gene expression databases

Bgeei Q76G19.
CleanExi HS_PDZD4.
ExpressionAtlasi Q76G19. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 92 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