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Protein

PDZ domain-containing protein 7

Gene

PDZD7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000107817-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
PDZ domain-containing protein 7
Gene namesi
Name:PDZD7
Synonyms:PDZK7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:26257. PDZD7.

Subcellular locationi

GO - Cellular componenti

  • cilium Source: UniProtKB
  • extracellular space Source: UniProtKB
  • nucleus Source: UniProtKB
  • stereocilia ankle link Source: Ensembl
  • USH2 complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11).

Usher syndrome 2C (USH2C)1 Publication
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. PDZD7 mutations have been found in combination with mutations in USH2A and GPR98 in patients affected by Usher syndrome, suggesting a role as contributor to digenic Usher syndrome or a modifier of retinal disease expression.1 Publication
Disease descriptionUSH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
See also OMIM:605472

Keywords - Diseasei

Deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNETi79955.
MalaCardsiPDZD7.
MIMi605472. phenotype.
OpenTargetsiENSG00000186862.
Orphaneti231178. Usher syndrome type 2.
PharmGKBiPA142671189.

Polymorphism and mutation databases

BioMutaiPDZD7.
DMDMi73621380.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000582971 – 517PDZ domain-containing protein 7Add BLAST517

Proteomic databases

PaxDbiQ9H5P4.
PeptideAtlasiQ9H5P4.
PRIDEiQ9H5P4.

PTM databases

iPTMnetiQ9H5P4.
PhosphoSitePlusiQ9H5P4.

Expressioni

Tissue specificityi

Weakly expressed in the inner ear. Expressed in the retinal pigment epithelium.2 Publications

Gene expression databases

BgeeiENSG00000186862.
CleanExiHS_PDZD7.
ExpressionAtlasiQ9H5P4. baseline and differential.
GenevisibleiQ9H5P4. HS.

Interactioni

Subunit structurei

Interacts with USH1G. Interacts with GPR98. Interacts with USH2A.2 Publications

Protein-protein interaction databases

STRINGi9606.ENSP00000359234.

Structurei

Secondary structure

1517
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi87 – 89Combined sources3
Beta strandi93 – 96Combined sources4
Beta strandi98 – 102Combined sources5
Beta strandi105 – 108Combined sources4
Beta strandi111 – 116Combined sources6
Helixi121 – 125Combined sources5
Beta strandi132 – 136Combined sources5
Helixi146 – 154Combined sources9
Beta strandi157 – 165Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EEHNMR-A81-167[»]
ProteinModelPortaliQ9H5P4.
SMRiQ9H5P4.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H5P4.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini86 – 168PDZ 1PROSITE-ProRule annotationAdd BLAST83
Domaini210 – 293PDZ 2PROSITE-ProRule annotationAdd BLAST84

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi319 – 344Ser-richAdd BLAST26

Sequence similaritiesi

Contains 2 PDZ (DHR) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410ITA9. Eukaryota.
ENOG411197M. LUCA.
GeneTreeiENSGT00530000063178.
HOGENOMiHOG000115487.
HOVERGENiHBG082117.
InParanoidiQ9H5P4.
OMAiANGRYHR.
OrthoDBiEOG091G01FL.
PhylomeDBiQ9H5P4.
TreeFamiTF325033.

Family and domain databases

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H5P4-1) [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
MAQGFAVGFD PLGLGDLSSG SLSSLSSRGH LGSDSGSTAT RYLLRKQQRL
60 70 80 90 100
LNGPPRGIRA SSPMGRVILI NSPIEANSDE SDIIHSVRVE KSPAGRLGFS
110 120 130 140 150
VRGGSEHGLG IFVSKVEEGS SAERAGLCVG DKITEVNGLS LESTTMGSAV
160 170 180 190 200
KVLTSSSRLH MMVRRMGRVP GIKFSKEKTT WVDVVNRRLV VEKCGSTPSD
210 220 230 240 250
TSSEDGVRRI VHLYTTSDDF CLGFNIRGGK EFGLGIYVSK VDHGGLAEEN
260 270 280 290 300
GIKVGDQVLA ANGVRFDDIS HSQAVEVLKG QTHIMLTIKE TGRYPAYKEM
310 320 330 340 350
VSEYCWLDRL SNGVLQQLSP ASESSSSVSS CASSAPYSSG SLPSDRMDIC
360 370 380 390 400
LGQEEPGSRG PGWGRADTAM QTEPDAGGRV ETWCSVRPTV ILRDTAIRSD
410 420 430 440 450
GPHPGRRLDS ALSESPKTAL LLALSRPRPP ITRSQSYLTL WEEKQQRKKE
460 470 480 490 500
KSGSPGEKGA LQRSKTLMNL FFKGGRQGRL ARDGRREAWT LDSGSLAKTY
510
PRLDIEKEMG VSPCCPG
Length:517
Mass (Da):55,677
Last modified:March 1, 2001 - v1
Checksum:i06C9C614283478F7
GO
Isoform 2 (identifier: Q9H5P4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     511-512: VS → AT
     513-517: Missing.

Note: No experimental confirmation available.
Show »
Length:512
Mass (Da):55,205
Checksum:i0077E7435F2A7C99
GO
Isoform 3 (identifier: Q9H5P4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     508-509: EM → AG
     512-517: SPCCPG → GPVQKFVTWR...SKPAPSPRIP

Show »
Length:1,033
Mass (Da):111,752
Checksum:iF267D0911E73ECBC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti449Missing in AAH29054 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_039972508 – 509EM → AG in isoform 3. 1 Publication2
Alternative sequenceiVSP_015075511 – 512VS → AT in isoform 2. 1 Publication2
Alternative sequenceiVSP_039973512 – 517SPCCPG → GPVQKFVTWRLRRDQERGRA LLSARSGSPSSQLPNVDEQV QAWESRRPLIQDLAQRLLTD DEVLAVTRHCSRYVHEGGIE DLVRPLLAILDRPEKLLLLQ DIRSVVAPTDLGRFDSMVML VELEAFEALKSRAVRPPALR PARQDTPPKRHLITPVPDSR GGFYLLPVNGFPEEEDNGEL RERLGALKVSPSASAPRHPH KGIPPLQDVPVDAFTPLRIA CTPPPQLPPVAPRPLRPNWL LTEPLSREHPPQSQIRGRAQ SRSRSRSRSRSRSSRGQGKS PGRRSPSPVPTPAPSMTNGR YHKPRKARPPLPRPLDGEAA KVGAKQGPSESGTEGTAKEA AMKNPSGELKTVTLSKMKQS LGISISGGIESKVQPMVKIE KIFPGGAAFLSGALQAGFEL VAVDGENLEQVTHQRAVDTI RRAYRNKAREPMELVVRVPG PSPRPSPSDSSALTDGGLPA DHLPAHQPLDAAPVPAHWLP EPPTNPQTPPTDARLLQPTP SPAPSPALQTPDSKPAPSPR IP in isoform 3. 1 Publication6
Alternative sequenceiVSP_015076513 – 517Missing in isoform 2. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
FJ617449 mRNA. Translation: ACU45386.1.
AK026862 mRNA. Translation: BAB15577.1.
AL133215 Genomic DNA. Translation: CAI10934.1.
BC029054 mRNA. Translation: AAH29054.1.
CCDSiCCDS31269.1. [Q9H5P4-1]
CCDS73182.1. [Q9H5P4-3]
RefSeqiNP_001182192.1. NM_001195263.1. [Q9H5P4-3]
NP_079171.1. NM_024895.4. [Q9H5P4-1]
XP_011538479.1. XM_011540177.2. [Q9H5P4-3]
UniGeneiHs.438245.

Genome annotation databases

EnsembliENST00000370215; ENSP00000359234; ENSG00000186862. [Q9H5P4-1]
ENST00000619208; ENSP00000480489; ENSG00000186862. [Q9H5P4-3]
GeneIDi79955.
KEGGihsa:79955.
UCSCiuc001kso.3. human. [Q9H5P4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
FJ617449 mRNA. Translation: ACU45386.1.
AK026862 mRNA. Translation: BAB15577.1.
AL133215 Genomic DNA. Translation: CAI10934.1.
BC029054 mRNA. Translation: AAH29054.1.
CCDSiCCDS31269.1. [Q9H5P4-1]
CCDS73182.1. [Q9H5P4-3]
RefSeqiNP_001182192.1. NM_001195263.1. [Q9H5P4-3]
NP_079171.1. NM_024895.4. [Q9H5P4-1]
XP_011538479.1. XM_011540177.2. [Q9H5P4-3]
UniGeneiHs.438245.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EEHNMR-A81-167[»]
ProteinModelPortaliQ9H5P4.
SMRiQ9H5P4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000359234.

PTM databases

iPTMnetiQ9H5P4.
PhosphoSitePlusiQ9H5P4.

Polymorphism and mutation databases

BioMutaiPDZD7.
DMDMi73621380.

Proteomic databases

PaxDbiQ9H5P4.
PeptideAtlasiQ9H5P4.
PRIDEiQ9H5P4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370215; ENSP00000359234; ENSG00000186862. [Q9H5P4-1]
ENST00000619208; ENSP00000480489; ENSG00000186862. [Q9H5P4-3]
GeneIDi79955.
KEGGihsa:79955.
UCSCiuc001kso.3. human. [Q9H5P4-1]

Organism-specific databases

CTDi79955.
DisGeNETi79955.
GeneCardsiPDZD7.
HGNCiHGNC:26257. PDZD7.
MalaCardsiPDZD7.
MIMi605472. phenotype.
612971. gene.
neXtProtiNX_Q9H5P4.
OpenTargetsiENSG00000186862.
Orphaneti231178. Usher syndrome type 2.
PharmGKBiPA142671189.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ITA9. Eukaryota.
ENOG411197M. LUCA.
GeneTreeiENSGT00530000063178.
HOGENOMiHOG000115487.
HOVERGENiHBG082117.
InParanoidiQ9H5P4.
OMAiANGRYHR.
OrthoDBiEOG091G01FL.
PhylomeDBiQ9H5P4.
TreeFamiTF325033.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000107817-MONOMER.

Miscellaneous databases

EvolutionaryTraceiQ9H5P4.
GenomeRNAii79955.
PROiQ9H5P4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186862.
CleanExiHS_PDZD7.
ExpressionAtlasiQ9H5P4. baseline and differential.
GenevisibleiQ9H5P4. HS.

Family and domain databases

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

Entry informationi

Entry nameiPDZD7_HUMAN
AccessioniPrimary (citable) accession number: Q9H5P4
Secondary accession number(s): D5FJ77, Q8N321
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 121 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.