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Q9UGP8

- SEC63_HUMAN

UniProt

Q9UGP8 - SEC63_HUMAN

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Protein

Translocation protein SEC63 homolog

Gene

SEC63

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Required for integral membrane and secreted preprotein translocation across the endoplasmic reticulum membrane.

GO - Molecular functioni

  1. poly(A) RNA binding Source: UniProtKB
  2. protein transporter activity Source: InterPro
  3. receptor activity Source: ProtInc

GO - Biological processi

  1. liver development Source: Ensembl
  2. multicellular organismal aging Source: Ensembl
  3. nitrogen compound metabolic process Source: Ensembl
  4. posttranslational protein targeting to membrane Source: MGI
  5. posttranslational protein targeting to membrane, translocation Source: InterPro
  6. protein targeting to membrane Source: ProtInc
  7. renal system development Source: Ensembl
  8. SRP-dependent cotranslational protein targeting to membrane Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Keywords - Biological processi

Protein transport, Transport

Protein family/group databases

TCDBi3.A.5.9.1. the general secretory pathway (sec) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Translocation protein SEC63 homolog
Gene namesi
Name:SEC63
Synonyms:SEC63L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21082. SEC63.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1414LumenalSequence AnalysisAdd
BLAST
Transmembranei15 – 3521HelicalSequence AnalysisAdd
BLAST
Topological domaini36 – 6934CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei70 – 9021HelicalSequence AnalysisAdd
BLAST
Topological domaini91 – 18898LumenalSequence AnalysisAdd
BLAST
Transmembranei189 – 20921HelicalSequence AnalysisAdd
BLAST
Topological domaini210 – 760551CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: ProtInc
  2. integral component of membrane Source: UniProtKB-KW
  3. membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Polycystic liver disease (PCLD) [MIM:174050]: A hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti568 – 5681Missing in PCLD. 1 Publication
VAR_019645

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi174050. phenotype.
Orphaneti2924. Isolated polycystic liver disease.
PharmGKBiPA134936990.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 760760Translocation protein SEC63 homologPRO_0000071097Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei742 – 7421Phosphoserine1 Publication
Modified residuei748 – 7481Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9UGP8.
PaxDbiQ9UGP8.
PeptideAtlasiQ9UGP8.
PRIDEiQ9UGP8.

PTM databases

PhosphoSiteiQ9UGP8.

Expressioni

Tissue specificityi

Widely expressed, with high levels in the liver.1 Publication

Gene expression databases

BgeeiQ9UGP8.
CleanExiHS_SEC63.
ExpressionAtlasiQ9UGP8. baseline and differential.
GenevestigatoriQ9UGP8.

Organism-specific databases

HPAiHPA053295.

Interactioni

Subunit structurei

Part of the multicomponent translocon that contains the trimeric SEC61 complex, SEC62 and SEC63.

Binary interactionsi

WithEntry#Exp.IntActNotes
NxnP973466EBI-1045560,EBI-309684From a different organism.

Protein-protein interaction databases

BioGridi116397. 9 interactions.
IntActiQ9UGP8. 5 interactions.
MINTiMINT-3079991.
STRINGi9606.ENSP00000357998.

Structurei

3D structure databases

ProteinModelPortaliQ9UGP8.
SMRiQ9UGP8. Positions 106-176, 243-477, 628-708.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini104 – 16562JPROSITE-ProRule annotationAdd
BLAST
Domaini197 – 541345SEC63 1Add
BLAST
Domaini637 – 71478SEC63 2Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili597 – 63539Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi734 – 76027Asp/Glu-rich (highly acidic)Add
BLAST

Sequence similaritiesi

Contains 1 J domain.PROSITE-ProRule annotation
Contains 2 SEC63 domains.Curated

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5407.
GeneTreeiENSGT00390000001965.
HOGENOMiHOG000037933.
HOVERGENiHBG057075.
InParanoidiQ9UGP8.
KOiK09540.
OMAiTIENCMK.
OrthoDBiEOG7HMS0K.
PhylomeDBiQ9UGP8.
TreeFamiTF105904.

Family and domain databases

Gene3Di1.10.287.110. 1 hit.
2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
IPR001623. DnaJ_domain.
IPR014756. Ig_E-set.
IPR027137. Sec63.
IPR004179. Sec63-dom.
[Graphical view]
PANTHERiPTHR24075. PTHR24075. 1 hit.
PfamiPF00226. DnaJ. 1 hit.
PF02889. Sec63. 1 hit.
[Graphical view]
PRINTSiPR00625. JDOMAIN.
SMARTiSM00271. DnaJ. 1 hit.
SM00611. SEC63. 1 hit.
SM00973. Sec63. 1 hit.
[Graphical view]
SUPFAMiSSF46565. SSF46565. 1 hit.
SSF81296. SSF81296. 2 hits.
PROSITEiPS50076. DNAJ_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UGP8-1 [UniParc]FASTAAdd to Basket

« Hide

        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
Length:760
Mass (Da):87,997
Last modified:January 23, 2007 - v2
Checksum:i81BBF269A3FCCF0D
GO

Sequence cautioni

The sequence AAH23598.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti115 – 1151A → V in AAH23598. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti556 – 5561V → I.1 Publication
Corresponds to variant rs17854547 [ dbSNP | Ensembl ].
VAR_061146
Natural varianti568 – 5681Missing in PCLD. 1 Publication
VAR_019645

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ011779 mRNA. Translation: CAB46275.1.
AF100141 mRNA. Translation: AAC83375.1.
AL024507 Genomic DNA. Translation: CAI19745.1.
BC023598 mRNA. Translation: AAH23598.1. Sequence problems.
BC047221 mRNA. Translation: AAH47221.1.
BC048287 mRNA. Translation: AAH48287.1.
AL137338 mRNA. Translation: CAB70701.1.
CCDSiCCDS5061.1.
PIRiT46504.
RefSeqiNP_009145.1. NM_007214.4.
UniGeneiHs.26904.

Genome annotation databases

EnsembliENST00000369002; ENSP00000357998; ENSG00000025796.
GeneIDi11231.
KEGGihsa:11231.
UCSCiuc003psb.4. human.

Polymorphism databases

DMDMi18203500.

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAI19745.1 .
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.
UniGenei Hs.26904.

3D structure databases

ProteinModelPortali Q9UGP8.
SMRi Q9UGP8. Positions 106-176, 243-477, 628-708.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116397. 9 interactions.
IntActi Q9UGP8. 5 interactions.
MINTi MINT-3079991.
STRINGi 9606.ENSP00000357998.

Protein family/group databases

TCDBi 3.A.5.9.1. the general secretory pathway (sec) family.

PTM databases

PhosphoSitei Q9UGP8.

Polymorphism databases

DMDMi 18203500.

Proteomic databases

MaxQBi Q9UGP8.
PaxDbi Q9UGP8.
PeptideAtlasi Q9UGP8.
PRIDEi Q9UGP8.

Protocols and materials databases

DNASUi 11231.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369002 ; ENSP00000357998 ; ENSG00000025796 .
GeneIDi 11231.
KEGGi hsa:11231.
UCSCi uc003psb.4. human.

Organism-specific databases

CTDi 11231.
GeneCardsi GC06M108188.
HGNCi HGNC:21082. SEC63.
HPAi HPA053295.
MIMi 174050. phenotype.
608648. gene.
neXtProti NX_Q9UGP8.
Orphaneti 2924. Isolated polycystic liver disease.
PharmGKBi PA134936990.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5407.
GeneTreei ENSGT00390000001965.
HOGENOMi HOG000037933.
HOVERGENi HBG057075.
InParanoidi Q9UGP8.
KOi K09540.
OMAi TIENCMK.
OrthoDBi EOG7HMS0K.
PhylomeDBi Q9UGP8.
TreeFami TF105904.

Miscellaneous databases

ChiTaRSi SEC63. human.
GeneWikii SEC63.
GenomeRNAii 11231.
NextBioi 42742.
PROi Q9UGP8.
SOURCEi Search...

Gene expression databases

Bgeei Q9UGP8.
CleanExi HS_SEC63.
ExpressionAtlasi Q9UGP8. baseline and differential.
Genevestigatori Q9UGP8.

Family and domain databases

Gene3Di 1.10.287.110. 1 hit.
2.60.40.150. 2 hits.
InterProi IPR000008. C2_dom.
IPR001623. DnaJ_domain.
IPR014756. Ig_E-set.
IPR027137. Sec63.
IPR004179. Sec63-dom.
[Graphical view ]
PANTHERi PTHR24075. PTHR24075. 1 hit.
Pfami PF00226. DnaJ. 1 hit.
PF02889. Sec63. 1 hit.
[Graphical view ]
PRINTSi PR00625. JDOMAIN.
SMARTi SM00271. DnaJ. 1 hit.
SM00611. SEC63. 1 hit.
SM00973. Sec63. 1 hit.
[Graphical view ]
SUPFAMi SSF46565. SSF46565. 1 hit.
SSF81296. SSF81296. 2 hits.
PROSITEi PS50076. DNAJ_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog."
    Skowronek M.H., Rotter M., Haas I.G.
    Biol. Chem. 380:1133-1138(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ILE-556.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain, Kidney and Leukocyte.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 129-760.
    Tissue: Testis.
  6. Cited for: TISSUE SPECIFICITY, VARIANT PCLD GLU-568 DEL.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-742 AND SER-748, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSEC63_HUMAN
AccessioniPrimary (citable) accession number: Q9UGP8
Secondary accession number(s): O95380
, Q5THN4, Q86VS9, Q8IWL0, Q9NTE0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: January 23, 2007
Last modified: November 26, 2014
This is version 133 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3