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Protein

PDZ domain-containing protein 4

Gene

PDZD4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000067840.12
HGNCiHGNC:21167 PDZD4
MIMi300634 gene
neXtProtiNX_Q76G19

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi57595
OpenTargetsiENSG00000067840
PharmGKBiPA134896313

Polymorphism and mutation databases

BioMutaiPDZD4
DMDMi62288846

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000559211 – 769PDZ domain-containing protein 4Add BLAST769

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei236PhosphoserineCombined sources1
Modified residuei454PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ76G19
PeptideAtlasiQ76G19
PRIDEiQ76G19
ProteomicsDBi68669

PTM databases

iPTMnetiQ76G19
PhosphoSitePlusiQ76G19

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000067840
CleanExiHS_PDZD4
ExpressionAtlasiQ76G19 baseline and differential
GenevisibleiQ76G19 HS

Organism-specific databases

HPAiHPA003878

Interactioni

Protein-protein interaction databases

BioGridi121646, 3 interactors
IntActiQ76G19, 2 interactors
STRINGi9606.ENSP00000164640

Structurei

3D structure databases

ProteinModelPortaliQ76G19
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini130 – 214PDZPROSITE-ProRule annotationAdd BLAST85

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili389 – 419Sequence analysisAdd BLAST31

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IT5C Eukaryota
ENOG4111F01 LUCA
GeneTreeiENSGT00510000046421
HOGENOMiHOG000231379
HOVERGENiHBG053554
InParanoidiQ76G19
KOiK15682
PhylomeDBiQ76G19
TreeFamiTF315909

Family and domain databases

InterProiView protein in InterPro
IPR001478 PDZ
IPR036034 PDZ_sf
PfamiView protein in Pfam
PF00595 PDZ, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 1 hit
SUPFAMiSSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50106 PDZ, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti374G → D in BAC03666 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03595239R → C in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs782272149Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05452121 – 129Missing in isoform 2. 1 PublicationAdd BLAST109

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS78517.1 [Q76G19-2]
RefSeqiNP_001290441.1, NM_001303512.1
NP_001290442.1, NM_001303513.1
NP_001290443.1, NM_001303514.1 [Q76G19-2]
NP_001290444.1, NM_001303515.1
NP_001290445.1, NM_001303516.1
NP_115901.2, NM_032512.3 [Q76G19-1]
UniGeneiHs.92732

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPDZD4_HUMAN
AccessioniPrimary (citable) accession number: Q76G19
Secondary accession number(s): B3KXB1
, B7ZKY3, Q8NB75, Q9BUH9, Q9P284
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: July 5, 2004
Last modified: June 20, 2018
This is version 121 of the entry and version 1 of the sequence. See 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

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