UniProtKB - Q8NEN9 (PDZD8_HUMAN)
Protein
PDZ domain-containing protein 8
Gene
PDZD8
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 840 – 891 | Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST | 52 |
GO - Molecular functioni
- lipid binding Source: UniProtKB-KW
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- cytoskeleton organization Source: UniProtKB
- intracellular signal transduction Source: InterPro
- lipid transport Source: UniProtKB-KW
- mitochondrial calcium ion homeostasis Source: UniProtKB
- mitochondrion-endoplasmic reticulum membrane tethering Source: UniProtKB
- regulation of cell morphogenesis Source: UniProtKB
- viral process Source: UniProtKB-KW
Keywordsi
Biological process | Host-virus interaction, Lipid transport, Transport |
Ligand | Lipid-binding, Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q8NEN9 |
SIGNORi | Q8NEN9 |
Protein family/group databases
TCDBi | 1.R.1.1.1, the membrane contact site (mcs) family |
Names & Taxonomyi
Protein namesi | Recommended name: PDZ domain-containing protein 8CuratedAlternative name(s): Sarcoma antigen NY-SAR-84/NY-SAR-1041 Publication |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26974, PDZD8 |
MIMi | 614235, gene |
neXtProti | NX_Q8NEN9 |
VEuPathDBi | HostDB:ENSG00000165650.11 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Single-pass membrane protein Sequence analysis
Note: Localizes at mitochondria-endoplasmic reticulum contact sites.1 Publication
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Mitochondrion
- mitochondrion Source: GOC
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
- mitochondria-associated endoplasmic reticulum membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 2 – 24 | HelicalSequence analysisAdd BLAST | 23 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 118987 |
OpenTargetsi | ENSG00000165650 |
PharmGKBi | PA134916380 |
Miscellaneous databases
Pharosi | Q8NEN9, Tbio |
Genetic variation databases
BioMutai | PDZD8 |
DMDMi | 73621383 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000058299 | 1 – 1154 | PDZ domain-containing protein 8Add BLAST | 1154 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 496 | PhosphoserineCombined sources | 1 | |
Modified residuei | 521 | PhosphoserineCombined sources | 1 | |
Modified residuei | 538 | PhosphoserineCombined sources | 1 | |
Modified residuei | 967 | PhosphoserineCombined sources | 1 | |
Modified residuei | 980 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8NEN9 |
jPOSTi | Q8NEN9 |
MassIVEi | Q8NEN9 |
MaxQBi | Q8NEN9 |
PaxDbi | Q8NEN9 |
PeptideAtlasi | Q8NEN9 |
PRIDEi | Q8NEN9 |
ProteomicsDBi | 73189 |
PTM databases
iPTMneti | Q8NEN9 |
PhosphoSitePlusi | Q8NEN9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000165650, Expressed in sperm and 239 other tissues |
Genevisiblei | Q8NEN9, HS |
Organism-specific databases
HPAi | ENSG00000165650, Tissue enhanced (bone) |
Interactioni
Subunit structurei
Interacts with MSN.
1 Publication(Microbial infection) Interacts with HIV-1 Gag polyprotein p55.
1 PublicationProtein-protein interaction databases
BioGRIDi | 125631, 76 interactors |
IntActi | Q8NEN9, 35 interactors |
STRINGi | 9606.ENSP00000334642 |
Miscellaneous databases
RNActi | Q8NEN9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 91 – 294 | SMP-LTDPROSITE-ProRule annotation1 PublicationAdd BLAST | 204 | |
Domaini | 366 – 449 | PDZPROSITE-ProRule annotationAdd BLAST | 84 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1028 – 1063 | Sequence analysisAdd BLAST | 36 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 551 – 626 | Pro-richAdd BLAST | 76 |
Domaini
The SMP-LTD domain is a barrel-like domain that binds phospholipids.By similarity
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 840 – 891 | Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST | 52 |
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helix, Zinc-fingerPhylogenomic databases
eggNOGi | KOG3532, Eukaryota |
GeneTreei | ENSGT00390000017746 |
HOGENOMi | CLU_008594_0_0_1 |
InParanoidi | Q8NEN9 |
OMAi | FGDITIH |
OrthoDBi | 1195477at2759 |
PhylomeDBi | Q8NEN9 |
TreeFami | TF324166 |
Family and domain databases
CDDi | cd00029, C1, 1 hit |
Gene3Di | 2.30.42.10, 1 hit |
InterProi | View protein in InterPro IPR001478, PDZ IPR041489, PDZ_6 IPR036034, PDZ_sf IPR039275, PDZD8 IPR002219, PE/DAG-bd IPR031468, SMP_LBD |
PANTHERi | PTHR21519, PTHR21519, 1 hit |
Pfami | View protein in Pfam PF00130, C1_1, 1 hit PF17820, PDZ_6, 1 hit |
SMARTi | View protein in SMART SM00109, C1, 1 hit SM00228, PDZ, 1 hit |
SUPFAMi | SSF50156, SSF50156, 1 hit |
PROSITEi | View protein in PROSITE PS50106, PDZ, 1 hit PS51847, SMP, 1 hit PS50081, ZF_DAG_PE_2, 1 hit |
i Sequence
Sequence statusi: Complete.
Q8NEN9-1 [UniParc]FASTAAdd to basket
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
Sequence cautioni
The sequence AAO65182 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 232 | V → G in AAO65182 (PubMed:12601173).Curated | 1 | |
Sequence conflicti | 482 | A → T in AAO65182 (PubMed:12601173).Curated | 1 | |
Sequence conflicti | 488 | D → N in AAO65182 (PubMed:12601173).Curated | 1 | |
Sequence conflicti | 491 | S → K in AAO65182 (PubMed:12601173).Curated | 1 | |
Sequence conflicti | 666 | S → F in CAB59184 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1007 – 1008 | GL → RG in AAO65177 (PubMed:12601173).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051265 | 806 | V → A. Corresponds to variant dbSNP:rs35664484Ensembl. | 1 | |
Natural variantiVAR_051266 | 897 | R → Q. Corresponds to variant dbSNP:rs363294Ensembl. | 1 |
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 |
CCDSi | CCDS7600.1 |
PIRi | T34546 |
RefSeqi | NP_776152.1, NM_173791.4 |
Genome annotation databases
Ensembli | ENST00000334464; ENSP00000334642; ENSG00000165650 |
GeneIDi | 118987 |
KEGGi | hsa:118987 |
UCSCi | uc001lde.2, human |
Similar proteinsi
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 |
CCDSi | CCDS7600.1 |
PIRi | T34546 |
RefSeqi | NP_776152.1, NM_173791.4 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 125631, 76 interactors |
IntActi | Q8NEN9, 35 interactors |
STRINGi | 9606.ENSP00000334642 |
Protein family/group databases
TCDBi | 1.R.1.1.1, the membrane contact site (mcs) family |
PTM databases
iPTMneti | Q8NEN9 |
PhosphoSitePlusi | Q8NEN9 |
Genetic variation databases
BioMutai | PDZD8 |
DMDMi | 73621383 |
Proteomic databases
EPDi | Q8NEN9 |
jPOSTi | Q8NEN9 |
MassIVEi | Q8NEN9 |
MaxQBi | Q8NEN9 |
PaxDbi | Q8NEN9 |
PeptideAtlasi | Q8NEN9 |
PRIDEi | Q8NEN9 |
ProteomicsDBi | 73189 |
Protocols and materials databases
Antibodypediai | 2575, 77 antibodies |
DNASUi | 118987 |
Genome annotation databases
Ensembli | ENST00000334464; ENSP00000334642; ENSG00000165650 |
GeneIDi | 118987 |
KEGGi | hsa:118987 |
UCSCi | uc001lde.2, human |
Organism-specific databases
CTDi | 118987 |
DisGeNETi | 118987 |
GeneCardsi | PDZD8 |
HGNCi | HGNC:26974, PDZD8 |
HPAi | ENSG00000165650, Tissue enhanced (bone) |
MIMi | 614235, gene |
neXtProti | NX_Q8NEN9 |
OpenTargetsi | ENSG00000165650 |
PharmGKBi | PA134916380 |
VEuPathDBi | HostDB:ENSG00000165650.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3532, Eukaryota |
GeneTreei | ENSGT00390000017746 |
HOGENOMi | CLU_008594_0_0_1 |
InParanoidi | Q8NEN9 |
OMAi | FGDITIH |
OrthoDBi | 1195477at2759 |
PhylomeDBi | Q8NEN9 |
TreeFami | TF324166 |
Enzyme and pathway databases
PathwayCommonsi | Q8NEN9 |
SIGNORi | Q8NEN9 |
Miscellaneous databases
BioGRID-ORCSi | 118987, 6 hits in 995 CRISPR screens |
ChiTaRSi | PDZD8, human |
GenomeRNAii | 118987 |
Pharosi | Q8NEN9, Tbio |
PROi | PR:Q8NEN9 |
RNActi | Q8NEN9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165650, Expressed in sperm and 239 other tissues |
Genevisiblei | Q8NEN9, HS |
Family and domain databases
CDDi | cd00029, C1, 1 hit |
Gene3Di | 2.30.42.10, 1 hit |
InterProi | View protein in InterPro IPR001478, PDZ IPR041489, PDZ_6 IPR036034, PDZ_sf IPR039275, PDZD8 IPR002219, PE/DAG-bd IPR031468, SMP_LBD |
PANTHERi | PTHR21519, PTHR21519, 1 hit |
Pfami | View protein in Pfam PF00130, C1_1, 1 hit PF17820, PDZ_6, 1 hit |
SMARTi | View protein in SMART SM00109, C1, 1 hit SM00228, PDZ, 1 hit |
SUPFAMi | SSF50156, SSF50156, 1 hit |
PROSITEi | View protein in PROSITE PS50106, PDZ, 1 hit PS51847, SMP, 1 hit PS50081, ZF_DAG_PE_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PDZD8_HUMAN | |
Accessioni | Q8NEN9Primary (citable) accession number: Q8NEN9 Secondary accession number(s): Q86WE0, Q86WE5, Q9UFF1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 16, 2005 |
Last sequence update: | October 1, 2002 | |
Last modified: | April 7, 2021 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot