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Entry version 151 (02 Jun 2021)
Sequence version 2 (05 Dec 2018)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1.

By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9H5P4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
PDZ domain-containing protein 7Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PDZD7Imported
Synonyms:PDZK7Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:26257, PDZD7

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612971, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H5P4

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000186862.17

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell projection, Cilium, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 57 (DFNB57)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic, sensorineural deafness characterized by symmetric, bilateral hearing loss with onset in early childhood. Vestibular function is preserved. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB57 severity ranges from moderate to severe.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08082066R → L in DFNB57; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1426679303EnsemblClinVar.1
Natural variantiVAR_080821103G → R in DFNB57. 1 PublicationCorresponds to variant dbSNP:rs148695069EnsemblClinVar.1
Natural variantiVAR_080822228G → R in DFNB57. 1 PublicationCorresponds to variant dbSNP:rs753034799EnsemblClinVar.1
Natural variantiVAR_080823285M → R in DFNB57. 1 PublicationCorresponds to variant dbSNP:rs1554835827EnsemblClinVar.1
Natural variantiVAR_080824500 – 1033Missing in DFNB57. 1 PublicationAdd BLAST534
Natural variantiVAR_081066526 – 1033Missing in DFNB57. 1 PublicationAdd BLAST508
Natural variantiVAR_081067550 – 1033Missing in DFNB57. 1 PublicationAdd BLAST484
A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11).1 Publication
Usher syndrome 2C (USH2C)1 Publication
The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. A PDZD7 mutation has been found in combination with a mutation in ADGRV1 in a patient affected by Usher syndrome, suggesting PDZD7 mutations contribute to digenic Usher syndrome.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.
Related information in OMIM
Usher syndrome 2A (USH2A)1 Publication
The gene represented in this entry acts as a disease modifier.
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.
Related information in OMIM

Keywords - Diseasei

Deafness, Disease variant, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
79955

MalaCards human disease database

More...
MalaCardsi
PDZD7
MIMi276901, phenotype
605472, phenotype
618003, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000186862

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
231178, Usher syndrome type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671189

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H5P4, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PDZD7

Domain mapping of disease mutations (DMDM)

More...
DMDMi
73621380

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000582971 – 1033PDZ domain-containing protein 7Add BLAST1033

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H5P4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9H5P4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H5P4

PeptideAtlas

More...
PeptideAtlasi
Q9H5P4

PRoteomics IDEntifications database

More...
PRIDEi
Q9H5P4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80922 [Q9H5P4-1]
80923 [Q9H5P4-2]
80924 [Q9H5P4-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H5P4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H5P4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000186862, Expressed in right hemisphere of cerebellum and 131 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H5P4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H5P4, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000186862, Tissue enhanced (brain, intestine)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimerizes (via PDZ2 domain).

Component of USH2 complex, composed of ADGRV1, PDZD7, USH2A and WHRN.

Interacts (via PDZ domains) with WHRN; the interaction is direct (By similarity).

Interacts with USH1G (PubMed:19028668).

Interacts with ADGRV1 (via the cytoplasmic region) (PubMed:20440071).

Interacts with USH2A (via the cytoplasmic region) (PubMed:20440071).

Interacts with MYO7A (via MyTH4-FERM domains) (By similarity).

By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
123024, 7 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9H5P4

Protein interaction database and analysis system

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IntActi
Q9H5P4, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000480489

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H5P4, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11033
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H5P4

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9H5P4

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini86 – 168PDZ 1PROSITE-ProRule annotationAdd BLAST83
Domaini210 – 293PDZ 2PROSITE-ProRule annotationAdd BLAST84
Domaini862 – 934PDZ 3PROSITE-ProRule annotationAdd BLAST73

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni323 – 380DisorderedSequence analysisAdd BLAST58
Regioni444 – 464DisorderedSequence analysisAdd BLAST21
Regioni754 – 864DisorderedSequence analysisAdd BLAST111
Regioni943 – 1033DisorderedSequence analysisAdd BLAST91

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi323 – 341Polar residuesSequence analysisAdd BLAST19
Compositional biasi986 – 1033Pro residuesSequence analysisAdd BLAST48

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3528, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183002

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_304541_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H5P4

Identification of Orthologs from Complete Genome Data

More...
OMAi
REHPPHG

Database of Orthologous Groups

More...
OrthoDBi
168224at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H5P4

TreeFam database of animal gene trees

More...
TreeFami
TF325033

Family and domain databases

Conserved Domains Database

More...
CDDi
cd07358, HN_PDZD7_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.42.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001478, PDZ
IPR036034, PDZ_sf
IPR042786, PDZD7_HN-like

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00595, PDZ, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00228, PDZ, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50156, SSF50156, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50106, PDZ, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H5P4-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
510 520 530 540 550
PRLDIEKAGG VGPVQKFVTW RLRRDQERGR ALLSARSGSP SSQLPNVDEQ
560 570 580 590 600
VQAWESRRPL IQDLAQRLLT DDEVLAVTRH CSRYVHEGGI EDLVRPLLAI
610 620 630 640 650
LDRPEKLLLL QDIRSVVAPT DLGRFDSMVM LVELEAFEAL KSRAVRPPAL
660 670 680 690 700
RPARQDTPPK RHLITPVPDS RGGFYLLPVN GFPEEEDNGE LRERLGALKV
710 720 730 740 750
SPSASAPRHP HKGIPPLQDV PVDAFTPLRI ACTPPPQLPP VAPRPLRPNW
760 770 780 790 800
LLTEPLSREH PPQSQIRGRA QSRSRSRSRS RSRSSRGQGK SPGRRSPSPV
810 820 830 840 850
PTPAPSMTNG RYHKPRKARP PLPRPLDGEA AKVGAKQGPS ESGTEGTAKE
860 870 880 890 900
AAMKNPSGEL KTVTLSKMKQ SLGISISGGI ESKVQPMVKI EKIFPGGAAF
910 920 930 940 950
LSGALQAGFE LVAVDGENLE QVTHQRAVDT IRRAYRNKAR EPMELVVRVP
960 970 980 990 1000
GPSPRPSPSD SSALTDGGLP ADHLPAHQPL DAAPVPAHWL PEPPTNPQTP
1010 1020 1030
PTDARLLQPT PSPAPSPALQ TPDSKPAPSP RIP
Length:1,033
Mass (Da):111,752
Last modified:December 5, 2018 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF267D0911E73ECBC
GO
Isoform 2 (identifier: Q9H5P4-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     508-517: AGGVGPVQKF → EMGVSPCCPG
     518-1033: Missing.

Show »
Length:517
Mass (Da):55,677
Checksum:i06C9C614283478F7
GO
Isoform 3 (identifier: Q9H5P4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     508-1033: AGGVGPVQKF...SKPAPSPRIP → EMGAT

Show »
Length:512
Mass (Da):55,205
Checksum:i0077E7435F2A7C99
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y892A0A2R8Y892_HUMAN
PDZ domain-containing protein 7
PDZD7
561Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YFN1A0A2R8YFN1_HUMAN
PDZ domain-containing protein 7
PDZD7
573Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R3J9S4R3J9_HUMAN
PDZ domain-containing protein 7
PDZD7
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4R0A0A2R8Y4R0_HUMAN
PDZ domain-containing protein 7
PDZD7
52Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6B4A0A2R8Y6B4_HUMAN
PDZ domain-containing protein 7
PDZD7
62Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6W6A0A2R8Y6W6_HUMAN
PDZ domain-containing protein 7
PDZD7
14Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti449Missing in AAH29054 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08082066R → L in DFNB57; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1426679303EnsemblClinVar.1
Natural variantiVAR_080821103G → R in DFNB57. 1 PublicationCorresponds to variant dbSNP:rs148695069EnsemblClinVar.1
Natural variantiVAR_080822228G → R in DFNB57. 1 PublicationCorresponds to variant dbSNP:rs753034799EnsemblClinVar.1
Natural variantiVAR_080823285M → R in DFNB57. 1 PublicationCorresponds to variant dbSNP:rs1554835827EnsemblClinVar.1
Natural variantiVAR_080824500 – 1033Missing in DFNB57. 1 PublicationAdd BLAST534
Natural variantiVAR_081066526 – 1033Missing in DFNB57. 1 PublicationAdd BLAST508
Natural variantiVAR_081067550 – 1033Missing in DFNB57. 1 PublicationAdd BLAST484

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_059941508 – 1033AGGVG…SPRIP → EMGAT in isoform 3. Add BLAST526
Alternative sequenceiVSP_059942508 – 517AGGVGPVQKF → EMGVSPCCPG in isoform 2. 10
Alternative sequenceiVSP_059943518 – 1033Missing in isoform 2. Add BLAST516

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
FJ617449 mRNA Translation: ACU45386.1
AK026862 mRNA Translation: BAB15577.1
AL133215 Genomic DNA No translation available.
BC029054 mRNA Translation: AAH29054.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS31269.1 [Q9H5P4-1]
CCDS73182.1 [Q9H5P4-3]

NCBI Reference Sequences

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RefSeqi
NP_001182192.1, NM_001195263.1 [Q9H5P4-3]
NP_079171.1, NM_024895.4 [Q9H5P4-1]
XP_011538479.1, XM_011540177.2 [Q9H5P4-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000370215; ENSP00000359234; ENSG00000186862 [Q9H5P4-1]
ENST00000619208; ENSP00000480489; ENSG00000186862 [Q9H5P4-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79955

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79955

UCSC genome browser

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UCSCi
uc001kso.3, human [Q9H5P4-3]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 No translation available.
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EEHNMR-A81-167[»]
SMRiQ9H5P4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi123024, 7 interactors
CORUMiQ9H5P4
IntActiQ9H5P4, 2 interactors
STRINGi9606.ENSP00000480489

PTM databases

iPTMnetiQ9H5P4
PhosphoSitePlusiQ9H5P4

Genetic variation databases

BioMutaiPDZD7
DMDMi73621380

Proteomic databases

jPOSTiQ9H5P4
MassIVEiQ9H5P4
PaxDbiQ9H5P4
PeptideAtlasiQ9H5P4
PRIDEiQ9H5P4
ProteomicsDBi80922 [Q9H5P4-1]
80923 [Q9H5P4-2]
80924 [Q9H5P4-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31245, 56 antibodies

The DNASU plasmid repository

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DNASUi
79955

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79955
DisGeNETi79955

GeneCards: human genes, protein and diseases

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GeneCardsi
PDZD7
HGNCiHGNC:26257, PDZD7
HPAiENSG00000186862, Tissue enhanced (brain, intestine)
MalaCardsiPDZD7
MIMi276901, phenotype
605472, phenotype
612971, gene
618003, phenotype
neXtProtiNX_Q9H5P4
OpenTargetsiENSG00000186862
Orphaneti231178, Usher syndrome type 2
PharmGKBiPA142671189
VEuPathDBiHostDB:ENSG00000186862.17

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3528, Eukaryota
GeneTreeiENSGT00950000183002
HOGENOMiCLU_304541_0_0_1
InParanoidiQ9H5P4
OMAiREHPPHG
OrthoDBi168224at2759
PhylomeDBiQ9H5P4
TreeFamiTF325033

Enzyme and pathway databases

PathwayCommonsiQ9H5P4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
79955, 8 hits in 990 CRISPR screens
EvolutionaryTraceiQ9H5P4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
79955
PharosiQ9H5P4, Tbio

Protein Ontology

More...
PROi
PR:Q9H5P4
RNActiQ9H5P4, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000186862, Expressed in right hemisphere of cerebellum and 131 other tissues
ExpressionAtlasiQ9H5P4, baseline and differential
GenevisibleiQ9H5P4, HS

Family and domain databases

CDDicd07358, HN_PDZD7_like, 1 hit
Gene3Di2.30.42.10, 3 hits
InterProiView protein in InterPro
IPR001478, PDZ
IPR036034, PDZ_sf
IPR042786, PDZD7_HN-like
PfamiView protein in Pfam
PF00595, PDZ, 3 hits
SMARTiView protein in SMART
SM00228, PDZ, 3 hits
SUPFAMiSSF50156, SSF50156, 3 hits
PROSITEiView protein in PROSITE
PS50106, PDZ, 3 hits

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPDZD7_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H5P4
Secondary accession number(s): D5FJ77, Q8N321
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: December 5, 2018
Last modified: June 2, 2021
This is version 151 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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