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Protein

PDZ domain-containing protein 8

Gene

PDZD8

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

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
Zinc fingeri840 – 891Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST52

GO - Molecular functioni

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

Enzyme and pathway databases

SIGNORiQ8NEN9

Names & Taxonomyi

Protein namesi
Recommended name:
PDZ domain-containing protein 8Curated
Alternative name(s):
Sarcoma antigen NY-SAR-84/NY-SAR-1041 Publication
Gene namesi
Name:PDZD8Imported
Synonyms:PDZK8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000165650.11
HGNCiHGNC:26974 PDZD8
MIMi614235 gene
neXtProtiNX_Q8NEN9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei2 – 24HelicalSequence analysisAdd BLAST23

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi118987
OpenTargetsiENSG00000165650
PharmGKBiPA134916380

Polymorphism and mutation databases

BioMutaiPDZD8
DMDMi73621383

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000582991 – 1154PDZ domain-containing protein 8Add BLAST1154

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei496PhosphoserineCombined sources1
Modified residuei521PhosphoserineCombined sources1
Modified residuei538PhosphoserineCombined sources1
Modified residuei967PhosphoserineCombined sources1
Modified residuei980PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NEN9
MaxQBiQ8NEN9
PaxDbiQ8NEN9
PeptideAtlasiQ8NEN9
PRIDEiQ8NEN9
ProteomicsDBi73189

PTM databases

iPTMnetiQ8NEN9
PhosphoSitePlusiQ8NEN9

Expressioni

Gene expression databases

BgeeiENSG00000165650
CleanExiHS_PDZD8
GenevisibleiQ8NEN9 HS

Organism-specific databases

HPAiHPA015716
HPA051610

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi125631, 44 interactors
IntActiQ8NEN9, 5 interactors
STRINGi9606.ENSP00000334642

Structurei

3D structure databases

ProteinModelPortaliQ8NEN9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini91 – 294SMP-LTDPROSITE-ProRule annotation1 PublicationAdd BLAST204
Domaini366 – 449PDZPROSITE-ProRule annotationAdd BLAST84

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1028 – 1063Sequence analysisAdd BLAST36

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi551 – 626Pro-richAdd BLAST76

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

eggNOGiKOG3532 Eukaryota
ENOG410ZV0K LUCA
GeneTreeiENSGT00390000017746
HOGENOMiHOG000090230
HOVERGENiHBG082118
InParanoidiQ8NEN9
OMAiENKHSFQ
OrthoDBiEOG091G04GK
PhylomeDBiQ8NEN9
TreeFamiTF324166

Family and domain databases

CDDicd00029 C1, 1 hit
InterProiView protein in InterPro
IPR001478 PDZ
IPR036034 PDZ_sf
IPR002219 PE/DAG-bd
IPR031468 SMP_LBD
PfamiView protein in Pfam
PF00130 C1_1, 1 hit
PF00595 PDZ, 1 hit
SMARTiView protein in SMART
SM00109 C1, 1 hit
SM00228 PDZ, 1 hit
SUPFAMiSSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50106 PDZ, 1 hit
PS51847 SMP, 1 hit
PS50081 ZF_DAG_PE_2, 1 hit

Sequencei

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
Checksum:iB09263C483645B13
GO

Sequence cautioni

The sequence AAO65182 differs from that shown. Reason: Frameshift at position 421.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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
UniGeneiHs.501149

Genome annotation databases

EnsembliENST00000334464; ENSP00000334642; ENSG00000165650
GeneIDi118987
KEGGihsa:118987
UCSCiuc001lde.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPDZD8_HUMAN
AccessioniPrimary (citable) accession number: Q8NEN9
Secondary accession number(s): Q86WE0, Q86WE5, Q9UFF1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: October 1, 2002
Last modified: June 20, 2018
This is version 134 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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