Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9UGP8 (SEC63_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Translocation protein SEC63 homolog
Gene names
Name:SEC63
Synonyms:SEC63L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length760 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

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

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Tissue specificity

Widely expressed, with high levels in the liver. Ref.6

Involvement in disease

Polycystic liver disease (PCLD) [MIM:174050]: A hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Contains 1 J domain.

Contains 2 SEC63 domains.

Sequence caution

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

Ontologies

Keywords
   Biological processProtein transport
Transport
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainCoiled coil
Repeat
Transmembrane
Transmembrane helix
   Molecular functionChaperone
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processSRP-dependent cotranslational protein targeting to membrane

Inferred from mutant phenotype PubMed 22375059. Source: MGI

liver development

Inferred from electronic annotation. Source: Ensembl

multicellular organismal aging

Inferred from electronic annotation. Source: Ensembl

nitrogen compound metabolic process

Inferred from electronic annotation. Source: Ensembl

posttranslational protein targeting to membrane

Inferred from mutant phenotype PubMed 22375059. Source: MGI

posttranslational protein targeting to membrane, translocation

Inferred from electronic annotation. Source: InterPro

protein targeting to membrane

Traceable author statement Ref.2. Source: ProtInc

renal system development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentendoplasmic reticulum

Traceable author statement Ref.2. Source: ProtInc

endoplasmic reticulum membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

membrane

Inferred from direct assay PubMed 22375059. Source: MGI

   Molecular_functionpoly(A) RNA binding

Inferred from direct assay PubMed 22658674. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 21251912. Source: IntAct

protein transporter activity

Inferred from electronic annotation. Source: InterPro

receptor activity

Traceable author statement Ref.2. Source: ProtInc

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NxnP973466EBI-1045560,EBI-309684From a different organism.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 760760Translocation protein SEC63 homolog
PRO_0000071097

Regions

Topological domain1 – 1414Lumenal Potential
Transmembrane15 – 3521Helical; Potential
Topological domain36 – 6934Cytoplasmic Potential
Transmembrane70 – 9021Helical; Potential
Topological domain91 – 18898Lumenal Potential
Transmembrane189 – 20921Helical; Potential
Topological domain210 – 760551Cytoplasmic Potential
Domain104 – 16562J
Domain197 – 541345SEC63 1
Domain637 – 71478SEC63 2
Coiled coil597 – 63539 Potential
Compositional bias734 – 76027Asp/Glu-rich (highly acidic)

Amino acid modifications

Modified residue7421Phosphoserine Ref.7
Modified residue7481Phosphoserine Ref.7

Natural variations

Natural variant5561V → I. Ref.3
Corresponds to variant rs17854547 [ dbSNP | Ensembl ].
VAR_061146
Natural variant5681Missing in PCLD. Ref.6
VAR_019645

Experimental info

Sequence conflict1151A → V in AAH23598. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q9UGP8 [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 81BBF269A3FCCF0D

FASTA76087,997
        10         20         30         40         50         60 
MAGQQFQYDD SGNTFFYFLT SFVGLIVIPA TYYLWPRDQN AEQIRLKNIR KVYGRCMWYR 

        70         80         90        100        110        120 
LRLLKPQPNI IPTVKKIVLL AGWALFLFLA YKVSKTDREY QEYNPYEVLN LDPGATVAEI 

       130        140        150        160        170        180 
KKQYRLLSLK YHPDKGGDEV MFMRIAKAYA ALTDEESRKN WEEFGNPDGP QATSFGIALP 

       190        200        210        220        230        240 
AWIVDQKNSI LVLLVYGLAF MVILPVVVGS WWYRSIRYSG DQILIRTTQI YTYFVYKTRN 

       250        260        270        280        290        300 
MDMKRLIMVL AGASEFDPQY NKDATSRPTD NILIPQLIRE IGSINLKKNE PPLTCPYSLK 

       310        320        330        340        350        360 
ARVLLLSHLA RMKIPETLEE DQQFMLKKCP ALLQEMVNVI CQLIVMARNR EEREFRAPTL 

       370        380        390        400        410        420 
ASLENCMKLS QMAVQGLQQF KSPLLQLPHI EEDNLRRVSN HKKYKIKTIQ DLVSLKESDR 

       430        440        450        460        470        480 
HTLLHFLEDE KYEEVMAVLG SFPYVTMDIK SQVLDDEDSN NITVGSLVTV LVKLTRQTMA 

       490        500        510        520        530        540 
EVFEKEQSIC AAEEQPAEDG QGETNKNRTK GGWQQKSKGP KKTAKSKKKK PLKKKPTPVL 

       550        560        570        580        590        600 
LPQSKQQKQK QANGVVGNEA AVKEDEEEVS DKGSDSEEEE TNRDSQSEKD DGSDRDSDRE 

       610        620        630        640        650        660 
QDEKQNKDDE AEWQELQQSI QRKERALLET KSKITHPVYS LYFPEEKQEW WWLYIADRKE 

       670        680        690        700        710        720 
QTLISMPYHV CTLKDTEEVE LKFPAPGKPG NYQYTVFLRS DSYMGLDQIK PLKLEVHEAK 

       730        740        750        760 
PVPENHPQWD TAIEGDEDQE DSEGFEDSFE EEEEEEEDDD 

« Hide

References

« Hide 'large scale' references
[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]"Mammalian Sec61 is associated with Sec62 and Sec63."
Meyer H.-A., Grau H., Kraft R., Kostka S., Prehn S., Kalies K.-U., Hartmann E.
J. Biol. Chem. 275:14550-14557(2000) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 129-760.
Tissue: Testis.
[6]"Mutations in SEC63 cause autosomal dominant polycystic liver disease."
Davila S., Furu L., Gharavi A.G., Tian X., Onoe T., Qian Q., Li A., Cai Y., Kamath P.S., King B.F., Azurmendi P.J., Tahvanainen P., Kaeaeriaeinen H., Hoeckerstedt K., Devuyst O., Pirson Y., Martin R.S., Lifton R.P. expand/collapse author list , Tahvanainen E., Torres V.E., Somlo S.
Nat. Genet. 36:575-577(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, VARIANT PCLD GLU-568 DEL.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-742 AND SER-748, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS5061.1.
PIRT46504.
RefSeqNP_009145.1. NM_007214.4.
UniGeneHs.26904.

3D structure databases

ProteinModelPortalQ9UGP8.
SMRQ9UGP8. Positions 106-176, 243-477, 628-708.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116397. 4 interactions.
IntActQ9UGP8. 5 interactions.
MINTMINT-3079991.
STRING9606.ENSP00000357998.

Protein family/group databases

TCDB3.A.5.9.1. the general secretory pathway (sec) family.

PTM databases

PhosphoSiteQ9UGP8.

Polymorphism databases

DMDM18203500.

Proteomic databases

MaxQBQ9UGP8.
PaxDbQ9UGP8.
PeptideAtlasQ9UGP8.
PRIDEQ9UGP8.

Protocols and materials databases

DNASU11231.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369002; ENSP00000357998; ENSG00000025796.
GeneID11231.
KEGGhsa:11231.
UCSCuc003psb.4. human.

Organism-specific databases

CTD11231.
GeneCardsGC06M108237.
HGNCHGNC:21082. SEC63.
HPAHPA053295.
MIM174050. phenotype.
608648. gene.
neXtProtNX_Q9UGP8.
Orphanet2924. Isolated polycystic liver disease.
PharmGKBPA134936990.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5407.
HOGENOMHOG000037933.
HOVERGENHBG057075.
InParanoidQ9UGP8.
KOK09540.
OMATIENCMK.
OrthoDBEOG7HMS0K.
PhylomeDBQ9UGP8.
TreeFamTF105904.

Gene expression databases

ArrayExpressQ9UGP8.
BgeeQ9UGP8.
CleanExHS_SEC63.
GenevestigatorQ9UGP8.

Family and domain databases

Gene3D1.10.287.110. 1 hit.
2.60.40.150. 2 hits.
InterProIPR000008. C2_dom.
IPR001623. DnaJ_domain.
IPR014756. Ig_E-set.
IPR027137. Sec63.
IPR004179. Sec63-dom.
[Graphical view]
PANTHERPTHR24075. PTHR24075. 1 hit.
PfamPF00226. DnaJ. 1 hit.
PF02889. Sec63. 1 hit.
[Graphical view]
PRINTSPR00625. JDOMAIN.
SMARTSM00271. DnaJ. 1 hit.
SM00611. SEC63. 1 hit.
SM00973. Sec63. 1 hit.
[Graphical view]
SUPFAMSSF46565. SSF46565. 1 hit.
SSF81296. SSF81296. 2 hits.
PROSITEPS50076. DNAJ_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSsec63. human.
GeneWikiSEC63.
GenomeRNAi11231.
NextBio42742.
PROQ9UGP8.
SOURCESearch...

Entry information

Entry nameSEC63_HUMAN
AccessionPrimary (citable) accession number: Q9UGP8
Secondary accession number(s): O95380 expand/collapse secondary AC list , Q5THN4, Q86VS9, Q8IWL0, Q9NTE0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM