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UniProtKB - Q8NEN9 (PDZD8_HUMAN)

Entry version 155 (25 May 2022)
Sequence version 1 (01 Oct 2002)
Previous versions | rss
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Protein

PDZ domain-containing protein 8

Gene

PDZD8

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

Molecular tethering protein that connects endoplasmic reticulum and mitochondria membranes (PubMed:29097544).

PDZD8-dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca2+ transfer (PubMed:29097544).

In neurons, involved in the regulation of dendritic Ca2+ dynamics by regulating mitochondrial Ca2+ uptake in neurons (PubMed:29097544).

Plays an indirect role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987).

May inhibit herpes simplex virus 1 infection at an early stage (PubMed:21549406).

3 Publications

Caution

(Microbial infection) Was initially reported to enhance infectivity of retroviruses, such as HIV-1, by stabilizing the capsid of retroviruses (PubMed:20573829, PubMed:24554657). However, it was later shown that PDZD8 is not absolutely required for HIV-1 infection, suggesting that its role in retroviral infection is probably indirect (PubMed:25771112).3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri840 – 891Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST52

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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>Keywordsi

Biological processHost-virus interaction, Lipid transport, Transport
LigandLipid-binding, Metal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NEN9

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q8NEN9

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8NEN9

Protein family/group databases

Transport Classification Database

More...TCDBi		1.R.1.1.1, the membrane contact site (mcs) family

<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 8Curated
Alternative name(s):
Sarcoma antigen NY-SAR-84/NY-SAR-1041 Publication
<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:PDZD8Imported
Synonyms:PDZK8
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

More...HGNCi		HGNC:26974, PDZD8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614235, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NEN9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000165650

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei2 – 24HelicalSequence analysisAdd BLAST23

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		118987

Open Targets

More...OpenTargetsi		ENSG00000165650

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134916380

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NEN9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PDZD8

Domain mapping of disease mutations (DMDM)

More...DMDMi		73621383

<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_00000582991 – 1154PDZ domain-containing protein 8Add BLAST1154

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei496PhosphoserineCombined sources1
Modified residuei521PhosphoserineCombined sources1
Modified residuei538PhosphoserineCombined sources1
Modified residuei967PhosphoserineCombined sources1
Modified residuei980PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NEN9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NEN9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NEN9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NEN9

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

More...PaxDbi		Q8NEN9

PeptideAtlas

More...PeptideAtlasi		Q8NEN9

PRoteomics IDEntifications database

More...PRIDEi		Q8NEN9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		73189

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NEN9

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

More...PhosphoSitePlusi		Q8NEN9

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000165650, Expressed in sperm and 240 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NEN9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000165650, Tissue enhanced (bone)

<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

Interacts with MSN.

1 Publication

(Microbial infection) Interacts with HIV-1 Gag polyprotein p55.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		125631, 188 interactors

Protein interaction database and analysis system

More...IntActi		Q8NEN9, 40 interactors

Molecular INTeraction database

More...MINTi		Q8NEN9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000334642

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NEN9, 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

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q8NEN9

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

More...SMRi		Q8NEN9

Database of comparative protein structure models

More...ModBasei		Search...

<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>Domaini91 – 294SMP-LTDPROSITE-ProRule annotation1 PublicationAdd BLAST204
Domaini366 – 449PDZPROSITE-ProRule annotationAdd BLAST84

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>Regioni66 – 90DisorderedSequence analysisAdd BLAST25
Regioni548 – 612DisorderedSequence analysisAdd BLAST65
Regioni955 – 999DisorderedSequence analysisAdd BLAST45
Regioni1132 – 1154DisorderedSequence analysisAdd BLAST23

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1028 – 1063Sequence analysisAdd BLAST36

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 biasi586 – 600Pro residuesSequence analysisAdd BLAST15
Compositional biasi967 – 996Polar residuesSequence analysisAdd BLAST30

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The SMP-LTD domain is a barrel-like domain that binds phospholipids.By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri840 – 891Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST52

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3532, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000017746

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_008594_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NEN9

Identification of Orthologs from Complete Genome Data

More...OMAi		TLIECTR

Database of Orthologous Groups

More...OrthoDBi		1195477at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NEN9

TreeFam database of animal gene trees

More...TreeFami		TF324166

Family and domain databases

Conserved Domains Database

More...CDDi		cd00029, C1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.42.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR046349, C1-like_sf
IPR001478, PDZ
IPR041489, PDZ_6
IPR036034, PDZ_sf
IPR039275, PDZD8
IPR002219, PE/DAG-bd
IPR031468, SMP_LBD

The PANTHER Classification System

More...PANTHERi		PTHR21519, PTHR21519, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00130, C1_1, 1 hit
PF17820, PDZ_6, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00109, C1, 1 hit
SM00228, PDZ, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50156, SSF50156, 1 hit
SSF57889, SSF57889, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50106, PDZ, 1 hit
PS51847, SMP, 1 hit
PS50081, ZF_DAG_PE_2, 1 hit

<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>Sequencei

<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.

Q8NEN9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGLLLMILAS AVLGSFLTLL AQFFLLYRRQ PEPPADEAAR AGEGFRYIKP 
        60         70         80         90        100
VPGLLLREYL YGGGRDEEPS GAAPEGGATP TAAPETPAPP TRETCYFLNA 
       110        120        130        140        150
TILFLFRELR DTALTRRWVT KKIKVEFEEL LQTKTAGRLL EGLSLRDVFL 
       160        170        180        190        200
GETVPFIKTI RLVRPVVPSA TGEPDGPEGE ALPAACPEEL AFEAEVEYNG 
       210        220        230        240        250
GFHLAIDVDL VFGKSAYLFV KLSRVVGRLR LVFTRVPFTH WFFSFVEDPL 
       260        270        280        290        300
IDFEVRSQFE GRPMPQLTSI IVNQLKKIIK RKHTLPNYKI RFKPFFPYQT 
       310        320        330        340        350
LQGFEEDEEH IHIQQWALTE GRLKVTLLEC SRLLIFGSYD REANVHCTLE 
       360        370        380        390        400
LSSSVWEEKQ RSSIKTVELI KGNLQSVGLT LRLVQSTDGY AGHVIIETVA 
       410        420        430        440        450
PNSPAAIADL QRGDRLIAIG GVKITSTLQV LKLIKQAGDR VLVYYERPVG 
       460        470        480        490        500
QSNQGAVLQD NFGQLEENFL SSSCQSGYEE EAAGLTVDTE SRELDSEFED 
       510        520        530        540        550
LASDVRAQNE FKDEAQSLSH SPKRVPTTLS IKPLGAISPV LNRKLAVGSH 
       560        570        580        590        600
PLPPKIQSKD GNKPPPLKTS EITDPAQVSK PTQGSAFKPP VPPRPQAKVP 
       610        620        630        640        650
LPSADAPNQA EPDVLVEKPE KVVPPPLVDK SAEKQAKNVD AIDDAAAPKQ 
       660        670        680        690        700
FLAKQEVAKD VTSETSCPTK DSSDDRQTWE SSEILYRNKL GKWTRTRASC 
       710        720        730        740        750
LFDIEACHRY LNIALWCRDP FKLGGLICLG HVSLKLEDVA LGCLATSNTE 
       760        770        780        790        800
YLSKLRLEAP SPKAIVTRTA LRNLSMQKGF NDKFCYGDIT IHFKYLKEGE 
       810        820        830        840        850
SDHHVVTNVE KEKEPHLVEE VSVLPKEEQF VGQMGLTENK HSFQDTQFQN 
       860        870        880        890        900
PTWCDYCKKK VWTKAASQCM FCAYVCHKKC QEKCLAETSV CGATDRRIDR 
       910        920        930        940        950
TLKNLRLEGQ ETLLGLPPRV DAEASKSVNK TTGLTRHIIN TSSRLLNLRQ 
       960        970        980        990       1000
VSKTRLSEPG TDLVEPSPKH TPNTSDNEGS DTEVCGPNSP SKRGNSTGIK 
      1010       1020       1030       1040       1050
LVRKEGGLDD SVFIAVKEIG RDLYRGLPTE ERIQKLEFML DKLQNEIDQE 
      1060       1070       1080       1090       1100
LEHNNSLVRE EKETTDTRKK SLLSAALAKS GERLQALTLL MIHYRAGIED 
      1110       1120       1130       1140       1150
IETLESLSLD QHSKKISKYT DDTEEDLDNE ISQLIDSQPF SSISDDLFGP 

SESV
Length:1,154
Mass (Da):128,563
Last modified:October 1, 2002 - v1
<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:iB09263C483645B13
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAO65182 differs from that shown. Reason: Frameshift.Curated

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 conflicti232V → G in AAO65182 (PubMed:12601173).Curated1
Sequence conflicti482A → T in AAO65182 (PubMed:12601173).Curated1
Sequence conflicti488D → N in AAO65182 (PubMed:12601173).Curated1
Sequence conflicti491S → K in AAO65182 (PubMed:12601173).Curated1
Sequence conflicti666S → F in CAB59184 (PubMed:17974005).Curated1
Sequence conflicti1007 – 1008GL → RG in AAO65177 (PubMed:12601173).Curated2

Natural variant

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_051265806V → A. Corresponds to variant dbSNP:rs35664484Ensembl.1
Natural variantiVAR_051266897R → Q. Corresponds to variant dbSNP:rs363294Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL391988 Genomic DNA No translation available.
AL359836 Genomic DNA No translation available.
BC028375 mRNA Translation: AAH28375.1
AY211924 mRNA Translation: AAO65177.1
AY211929 mRNA Translation: AAO65182.1 Frameshift.
AL122051 mRNA Translation: CAB59184.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7600.1

Protein sequence database of the Protein Information Resource

More...PIRi		T34546

NCBI Reference Sequences

More...RefSeqi		NP_776152.1, NM_173791.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000334464.7; ENSP00000334642.5; ENSG00000165650.12

Database of genes from NCBI RefSeq genomes

More...GeneIDi		118987

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:118987

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000334464.7; ENSP00000334642.5; NM_173791.5; NP_776152.1

UCSC genome browser

More...UCSCi		uc001lde.2, human

<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
AL391988 Genomic DNA No translation available.
AL359836 Genomic DNA No translation available.
BC028375 mRNA Translation: AAH28375.1
AY211924 mRNA Translation: AAO65177.1
AY211929 mRNA Translation: AAO65182.1 Frameshift.
AL122051 mRNA Translation: CAB59184.1
CCDSiCCDS7600.1
PIRiT34546
RefSeqiNP_776152.1, NM_173791.4

3D structure databases

AlphaFoldDBiQ8NEN9
SMRiQ8NEN9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi125631, 188 interactors
IntActiQ8NEN9, 40 interactors
MINTiQ8NEN9
STRINGi9606.ENSP00000334642

Protein family/group databases

TCDBi1.R.1.1.1, the membrane contact site (mcs) family

PTM databases

iPTMnetiQ8NEN9
PhosphoSitePlusiQ8NEN9

Genetic variation databases

BioMutaiPDZD8
DMDMi73621383

Proteomic databases

EPDiQ8NEN9
jPOSTiQ8NEN9
MassIVEiQ8NEN9
MaxQBiQ8NEN9
PaxDbiQ8NEN9
PeptideAtlasiQ8NEN9
PRIDEiQ8NEN9
ProteomicsDBi73189

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2575, 78 antibodies from 17 providers

The DNASU plasmid repository

More...DNASUi		118987

Genome annotation databases

EnsembliENST00000334464.7; ENSP00000334642.5; ENSG00000165650.12
GeneIDi118987
KEGGihsa:118987
MANE-SelectiENST00000334464.7; ENSP00000334642.5; NM_173791.5; NP_776152.1
UCSCiuc001lde.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		118987
DisGeNETi118987

GeneCards: human genes, protein and diseases

More...GeneCardsi		PDZD8
HGNCiHGNC:26974, PDZD8
HPAiENSG00000165650, Tissue enhanced (bone)
MIMi614235, gene
neXtProtiNX_Q8NEN9
OpenTargetsiENSG00000165650
PharmGKBiPA134916380
VEuPathDBiHostDB:ENSG00000165650

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3532, Eukaryota
GeneTreeiENSGT00390000017746
HOGENOMiCLU_008594_0_0_1
InParanoidiQ8NEN9
OMAiTLIECTR
OrthoDBi1195477at2759
PhylomeDBiQ8NEN9
TreeFamiTF324166

Enzyme and pathway databases

PathwayCommonsiQ8NEN9
SignaLinkiQ8NEN9
SIGNORiQ8NEN9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		118987, 7 hits in 1073 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PDZD8, human

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

More...GenomeRNAii		118987
PharosiQ8NEN9, Tbio

Protein Ontology

More...PROi		PR:Q8NEN9
RNActiQ8NEN9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000165650, Expressed in sperm and 240 other tissues
GenevisibleiQ8NEN9, HS

Family and domain databases

CDDicd00029, C1, 1 hit
Gene3Di2.30.42.10, 1 hit
InterProiView protein in InterPro
IPR046349, C1-like_sf
IPR001478, PDZ
IPR041489, PDZ_6
IPR036034, PDZ_sf
IPR039275, PDZD8
IPR002219, PE/DAG-bd
IPR031468, SMP_LBD
PANTHERiPTHR21519, PTHR21519, 1 hit
PfamiView protein in Pfam
PF00130, C1_1, 1 hit
PF17820, PDZ_6, 1 hit
SMARTiView protein in SMART
SM00109, C1, 1 hit
SM00228, PDZ, 1 hit
SUPFAMiSSF50156, SSF50156, 1 hit
SSF57889, SSF57889, 1 hit
PROSITEiView protein in PROSITE
PS50106, PDZ, 1 hit
PS51847, SMP, 1 hit
PS50081, ZF_DAG_PE_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiPDZD8_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: Q8NEN9
Secondary accession number(s): Q86WE0, Q86WE5, Q9UFF1
<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: October 1, 2002
Last modified: May 25, 2022
This is version 155 of the entry and version 1 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

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
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