UniProtKB - Q9UGP8 (SEC63_HUMAN)
Protein
Translocation protein SEC63 homolog
Gene
SEC63
Organism
Homo sapiens (Human)
Status
Functioni
Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER) (PubMed:22375059, PubMed:29719251). Proposed to play an auxiliary role in recognition of precursors with short and apolar signal peptides. May cooperate with SEC62 and HSPA5/BiP to facilitate targeting of small presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen (PubMed:29719251). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity).By similarity2 Publications
GO - Molecular functioni
- protein transmembrane transporter activity Source: GO_Central
- RNA binding Source: UniProtKB
- signaling receptor activity Source: ProtInc
GO - Biological processi
- liver development Source: Ensembl
- multicellular organism aging Source: Ensembl
- nitrogen compound metabolic process Source: Ensembl
- posttranslational protein targeting to endoplasmic reticulum membrane Source: MGI
- posttranslational protein targeting to membrane, translocation Source: UniProtKB
- protein targeting to membrane Source: ProtInc
- SRP-dependent cotranslational protein targeting to membrane Source: MGI
Keywordsi
Molecular function | Chaperone |
Biological process | Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9UGP8 |
Protein family/group databases
TCDBi | 3.A.5.9.1, the general secretory pathway (sec) family |
Names & Taxonomyi
Protein namesi | Recommended name: Translocation protein SEC63 homolog |
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:21082, SEC63 |
MIMi | 608648, gene |
neXtProti | NX_Q9UGP8 |
VEuPathDBi | HostDB:ENSG00000025796.13 |
Subcellular locationi
Endoplasmic reticulum
Cytosol
- cytosol Source: Reactome
Endoplasmic reticulum
- endoplasmic reticulum Source: HPA
- endoplasmic reticulum membrane Source: Reactome
- Sec62/Sec63 complex Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: MGI
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 14 | LumenalSequence analysisAdd BLAST | 14 | |
Transmembranei | 15 – 35 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 36 – 69 | CytoplasmicSequence analysisAdd BLAST | 34 | |
Transmembranei | 70 – 90 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 91 – 188 | LumenalSequence analysisAdd BLAST | 98 | |
Transmembranei | 189 – 209 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 210 – 760 | CytoplasmicSequence analysisAdd BLAST | 551 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Polycystic liver disease 2 with or without kidney cysts (PCLD2)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080944 | 7 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 754 | |
Natural variantiVAR_080945 | 58 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 703 | |
Natural variantiVAR_080946 | 98 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 663 | |
Natural variantiVAR_080947 | 233 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 528 | |
Natural variantiVAR_080948 | 239 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 522 | |
Natural variantiVAR_080949 | 297 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 464 | |
Natural variantiVAR_080950 | 417 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 344 | |
Natural variantiVAR_080951 | 550 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 211 | |
Natural variantiVAR_019645 | 568 | Missing in PCLD2. 1 Publication | 1 | |
Natural variantiVAR_080952 | 601 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 160 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 132 | H → Q: Reduces cotranslational translocation of APLN precursor/preproapelin. 1 Publication | 1 | |
Mutagenesisi | 735 – 760 | Missing : Reduces cotranslational translocation of APLN precursor/preproapelin. 1 PublicationAdd BLAST | 26 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 11231 |
MalaCardsi | SEC63 |
MIMi | 617004, phenotype |
OpenTargetsi | ENSG00000025796 |
Orphaneti | 2924, Isolated polycystic liver disease |
PharmGKBi | PA134936990 |
Miscellaneous databases
Pharosi | Q9UGP8, Tbio |
Genetic variation databases
BioMutai | SEC63 |
DMDMi | 18203500 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000071097 | 1 – 760 | Translocation protein SEC63 homologAdd BLAST | 760 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 537 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 742 | PhosphoserineCombined sources | 1 | |
Modified residuei | 748 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9UGP8 |
jPOSTi | Q9UGP8 |
MassIVEi | Q9UGP8 |
MaxQBi | Q9UGP8 |
PaxDbi | Q9UGP8 |
PeptideAtlasi | Q9UGP8 |
PRIDEi | Q9UGP8 |
ProteomicsDBi | 84254 |
PTM databases
CarbonylDBi | Q9UGP8 |
iPTMneti | Q9UGP8 |
PhosphoSitePlusi | Q9UGP8 |
SwissPalmi | Q9UGP8 |
Expressioni
Tissue specificityi
Widely expressed, with high levels in the liver.1 Publication
Gene expression databases
Bgeei | ENSG00000025796, Expressed in testis and 249 other tissues |
ExpressionAtlasi | Q9UGP8, baseline and differential |
Genevisiblei | Q9UGP8, HS |
Organism-specific databases
HPAi | ENSG00000025796, Low tissue specificity |
Interactioni
Subunit structurei
The ER translocon complex consists of channel-forming core components SEC61A1, SEC61B and SEC61G and different auxiliary components such as SEC62 and SEC63.
By similarityBinary interactionsi
Hide detailsQ9UGP8
With | #Exp. | IntAct |
---|---|---|
MEOX2 [Q6FHY5] | 3 | EBI-1045560,EBI-16439278 |
Nxn [P97346] from Mus musculus. | 6 | EBI-1045560,EBI-309684 |
Protein-protein interaction databases
BioGRIDi | 116397, 85 interactors |
IntActi | Q9UGP8, 36 interactors |
MINTi | Q9UGP8 |
STRINGi | 9606.ENSP00000357998 |
Miscellaneous databases
RNActi | Q9UGP8, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 104 – 165 | JPROSITE-ProRule annotationAdd BLAST | 62 | |
Domaini | 197 – 541 | SEC63 1Add BLAST | 345 | |
Domaini | 637 – 714 | SEC63 2Add BLAST | 78 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 597 – 635 | Sequence analysisAdd BLAST | 39 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 734 – 760 | Asp/Glu-rich (highly acidic)Add BLAST | 27 |
Keywords - Domaini
Coiled coil, Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0721, Eukaryota |
GeneTreei | ENSGT00390000001965 |
HOGENOMi | CLU_014210_1_0_1 |
InParanoidi | Q9UGP8 |
OMAi | YTFTVCL |
OrthoDBi | 686427at2759 |
PhylomeDBi | Q9UGP8 |
TreeFami | TF105904 |
Family and domain databases
CDDi | cd06257, DnaJ, 1 hit |
Gene3Di | 1.10.287.110, 1 hit 2.60.40.150, 1 hit |
InterProi | View protein in InterPro IPR035892, C2_domain_sf IPR001623, DnaJ_domain IPR014756, Ig_E-set IPR036869, J_dom_sf IPR027137, Sec63 IPR004179, Sec63-dom |
PANTHERi | PTHR24075:SF0, PTHR24075:SF0, 1 hit |
Pfami | View protein in Pfam PF00226, DnaJ, 1 hit PF02889, Sec63, 2 hits |
PRINTSi | PR00625, JDOMAIN |
SMARTi | View protein in SMART SM00271, DnaJ, 1 hit SM00973, Sec63, 1 hit |
SUPFAMi | SSF46565, SSF46565, 1 hit SSF81296, SSF81296, 1 hit |
PROSITEi | View protein in PROSITE PS50076, DNAJ_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q9UGP8-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAGQQFQYDD SGNTFFYFLT SFVGLIVIPA TYYLWPRDQN AEQIRLKNIR
60 70 80 90 100
KVYGRCMWYR LRLLKPQPNI IPTVKKIVLL AGWALFLFLA YKVSKTDREY
110 120 130 140 150
QEYNPYEVLN LDPGATVAEI KKQYRLLSLK YHPDKGGDEV MFMRIAKAYA
160 170 180 190 200
ALTDEESRKN WEEFGNPDGP QATSFGIALP AWIVDQKNSI LVLLVYGLAF
210 220 230 240 250
MVILPVVVGS WWYRSIRYSG DQILIRTTQI YTYFVYKTRN MDMKRLIMVL
260 270 280 290 300
AGASEFDPQY NKDATSRPTD NILIPQLIRE IGSINLKKNE PPLTCPYSLK
310 320 330 340 350
ARVLLLSHLA RMKIPETLEE DQQFMLKKCP ALLQEMVNVI CQLIVMARNR
360 370 380 390 400
EEREFRAPTL ASLENCMKLS QMAVQGLQQF KSPLLQLPHI EEDNLRRVSN
410 420 430 440 450
HKKYKIKTIQ DLVSLKESDR HTLLHFLEDE KYEEVMAVLG SFPYVTMDIK
460 470 480 490 500
SQVLDDEDSN NITVGSLVTV LVKLTRQTMA EVFEKEQSIC AAEEQPAEDG
510 520 530 540 550
QGETNKNRTK GGWQQKSKGP KKTAKSKKKK PLKKKPTPVL LPQSKQQKQK
560 570 580 590 600
QANGVVGNEA AVKEDEEEVS DKGSDSEEEE TNRDSQSEKD DGSDRDSDRE
610 620 630 640 650
QDEKQNKDDE AEWQELQQSI QRKERALLET KSKITHPVYS LYFPEEKQEW
660 670 680 690 700
WWLYIADRKE QTLISMPYHV CTLKDTEEVE LKFPAPGKPG NYQYTVFLRS
710 720 730 740 750
DSYMGLDQIK PLKLEVHEAK PVPENHPQWD TAIEGDEDQE DSEGFEDSFE
760
EEEEEEEDDD
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA6PVC9 | A6PVC9_HUMAN | Translocation protein SEC63 homolog | SEC63 | 161 | Annotation score: | ||
F8WB27 | F8WB27_HUMAN | Translocation protein SEC63 homolog | SEC63 | 80 | Annotation score: |
Sequence cautioni
The sequence AAH23598 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 115 | A → V in AAH23598 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080944 | 7 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 754 | |
Natural variantiVAR_080945 | 58 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 703 | |
Natural variantiVAR_080946 | 98 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 663 | |
Natural variantiVAR_080947 | 233 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 528 | |
Natural variantiVAR_080948 | 239 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 522 | |
Natural variantiVAR_080949 | 297 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 464 | |
Natural variantiVAR_080950 | 417 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 344 | |
Natural variantiVAR_080951 | 550 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 211 | |
Natural variantiVAR_061146 | 556 | V → I1 PublicationCorresponds to variant dbSNP:rs17854547EnsemblClinVar. | 1 | |
Natural variantiVAR_019645 | 568 | Missing in PCLD2. 1 Publication | 1 | |
Natural variantiVAR_080952 | 601 – 760 | Missing in PCLD2. 1 PublicationAdd BLAST | 160 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ011779 mRNA Translation: CAB46275.1 AF100141 mRNA Translation: AAC83375.1 AL024507 Genomic DNA No translation available. BC023598 mRNA Translation: AAH23598.1 Sequence problems. BC047221 mRNA Translation: AAH47221.1 BC048287 mRNA Translation: AAH48287.1 AL137338 mRNA Translation: CAB70701.1 |
CCDSi | CCDS5061.1 |
PIRi | T46504 |
RefSeqi | NP_009145.1, NM_007214.4 |
Genome annotation databases
Ensembli | ENST00000369002; ENSP00000357998; ENSG00000025796 |
GeneIDi | 11231 |
KEGGi | hsa:11231 |
UCSCi | uc003psc.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ011779 mRNA Translation: CAB46275.1 AF100141 mRNA Translation: AAC83375.1 AL024507 Genomic DNA No translation available. BC023598 mRNA Translation: AAH23598.1 Sequence problems. BC047221 mRNA Translation: AAH47221.1 BC048287 mRNA Translation: AAH48287.1 AL137338 mRNA Translation: CAB70701.1 |
CCDSi | CCDS5061.1 |
PIRi | T46504 |
RefSeqi | NP_009145.1, NM_007214.4 |
3D structure databases
SMRi | Q9UGP8 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 116397, 85 interactors |
IntActi | Q9UGP8, 36 interactors |
MINTi | Q9UGP8 |
STRINGi | 9606.ENSP00000357998 |
Protein family/group databases
TCDBi | 3.A.5.9.1, the general secretory pathway (sec) family |
PTM databases
CarbonylDBi | Q9UGP8 |
iPTMneti | Q9UGP8 |
PhosphoSitePlusi | Q9UGP8 |
SwissPalmi | Q9UGP8 |
Genetic variation databases
BioMutai | SEC63 |
DMDMi | 18203500 |
Proteomic databases
EPDi | Q9UGP8 |
jPOSTi | Q9UGP8 |
MassIVEi | Q9UGP8 |
MaxQBi | Q9UGP8 |
PaxDbi | Q9UGP8 |
PeptideAtlasi | Q9UGP8 |
PRIDEi | Q9UGP8 |
ProteomicsDBi | 84254 |
Protocols and materials databases
Antibodypediai | 32190, 128 antibodies |
DNASUi | 11231 |
Genome annotation databases
Ensembli | ENST00000369002; ENSP00000357998; ENSG00000025796 |
GeneIDi | 11231 |
KEGGi | hsa:11231 |
UCSCi | uc003psc.5, human |
Organism-specific databases
CTDi | 11231 |
DisGeNETi | 11231 |
GeneCardsi | SEC63 |
HGNCi | HGNC:21082, SEC63 |
HPAi | ENSG00000025796, Low tissue specificity |
MalaCardsi | SEC63 |
MIMi | 608648, gene 617004, phenotype |
neXtProti | NX_Q9UGP8 |
OpenTargetsi | ENSG00000025796 |
Orphaneti | 2924, Isolated polycystic liver disease |
PharmGKBi | PA134936990 |
VEuPathDBi | HostDB:ENSG00000025796.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0721, Eukaryota |
GeneTreei | ENSGT00390000001965 |
HOGENOMi | CLU_014210_1_0_1 |
InParanoidi | Q9UGP8 |
OMAi | YTFTVCL |
OrthoDBi | 686427at2759 |
PhylomeDBi | Q9UGP8 |
TreeFami | TF105904 |
Enzyme and pathway databases
PathwayCommonsi | Q9UGP8 |
Miscellaneous databases
BioGRID-ORCSi | 11231, 384 hits in 875 CRISPR screens |
ChiTaRSi | SEC63, human |
GeneWikii | SEC63 |
GenomeRNAii | 11231 |
Pharosi | Q9UGP8, Tbio |
PROi | PR:Q9UGP8 |
RNActi | Q9UGP8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000025796, Expressed in testis and 249 other tissues |
ExpressionAtlasi | Q9UGP8, baseline and differential |
Genevisiblei | Q9UGP8, HS |
Family and domain databases
CDDi | cd06257, DnaJ, 1 hit |
Gene3Di | 1.10.287.110, 1 hit 2.60.40.150, 1 hit |
InterProi | View protein in InterPro IPR035892, C2_domain_sf IPR001623, DnaJ_domain IPR014756, Ig_E-set IPR036869, J_dom_sf IPR027137, Sec63 IPR004179, Sec63-dom |
PANTHERi | PTHR24075:SF0, PTHR24075:SF0, 1 hit |
Pfami | View protein in Pfam PF00226, DnaJ, 1 hit PF02889, Sec63, 2 hits |
PRINTSi | PR00625, JDOMAIN |
SMARTi | View protein in SMART SM00271, DnaJ, 1 hit SM00973, Sec63, 1 hit |
SUPFAMi | SSF46565, SSF46565, 1 hit SSF81296, SSF81296, 1 hit |
PROSITEi | View protein in PROSITE PS50076, DNAJ_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SEC63_HUMAN | |
Accessioni | Q9UGP8Primary (citable) accession number: Q9UGP8 Secondary accession number(s): O95380 Q9NTE0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 18, 2001 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 183 of the entry and version 2 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 6
Human chromosome 6: 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