Q9UGP8 (SEC63_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Translocation protein SEC63 homolog

Gene names

Name:	SEC63
Synonyms:	SEC63L

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	760 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Protein transport Transport
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Coiled coil Repeat Transmembrane Transmembrane helix
Molecular function	Chaperone
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	posttranslational protein targeting to membrane, translocation Inferred from electronic annotation. Source: InterPro protein targeting to membrane Traceable author statement Ref.2. Source: ProtInc
Cellular_component	endoplasmic reticulum Traceable author statement Ref.2. Source: ProtInc endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	protein transporter activity Inferred from electronic annotation. Source: InterPro receptor activity Traceable author statement Ref.2. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 760	760	Translocation protein SEC63 homolog		PRO_0000071097
Regions
	Topological domain	1 – 14	14	Lumenal Potential
	Transmembrane	15 – 35	21	Helical; Potential
	Topological domain	36 – 69	34	Cytoplasmic Potential
	Transmembrane	70 – 90	21	Helical; Potential
	Topological domain	91 – 188	98	Lumenal Potential
	Transmembrane	189 – 209	21	Helical; Potential
	Topological domain	210 – 760	551	Cytoplasmic Potential
	Domain	104 – 165	62	J
	Domain	197 – 541	345	SEC63 1
	Domain	637 – 714	78	SEC63 2
	Coiled coil	597 – 635	39	Potential
	Compositional bias	734 – 760	27	Asp/Glu-rich (highly acidic)
Amino acid modifications
	Modified residue	307	1	Phosphoserine By similarity
	Modified residue	593	1	Phosphoserine By similarity
	Modified residue	597	1	Phosphoserine By similarity
	Modified residue	742	1	Phosphoserine Ref.7
	Modified residue	748	1	Phosphoserine Ref.7
Natural variations
	Natural variant	556	1	V → I. Ref.3 Corresponds to variant rs17854547 [ dbSNP | Ensembl ].		VAR_061146
	Natural variant	568	1	Missing in PCLD. Ref.6		VAR_019645
Experimental info
	Sequence conflict	115	1	A → V in AAH23598. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q9UGP8 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 81BBF269A3FCCF0D	FASTA	760	87,997
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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.

Web resources

GeneReviews

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.
IPI	IPI00218922.
PIR	T46504.
RefSeq	NP_009145.1. NM_007214.4.
UniGene	Hs.26904.
3D structure databases
ProteinModelPortal	Q9UGP8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UGP8. 3 interactions.
STRING	9606.ENSP00000357998.
Protein family/group databases
TCDB	3.A.5.9.1. general secretory pathway (Sec) family.
PTM databases
PhosphoSite	Q9UGP8.
Polymorphism databases
DMDM	18203500.
Proteomic databases
PaxDb	Q9UGP8.
PeptideAtlas	Q9UGP8.
PRIDE	Q9UGP8.
Protocols and materials databases
DNASU	11231.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000369002; ENSP00000357998; ENSG00000025796.
GeneID	11231.
KEGG	hsa:11231.
UCSC	uc003psb.4. human.
Organism-specific databases
CTD	11231.
GeneCards	GC06M108237.
HGNC	HGNC:21082. SEC63.
HPA	HPA053295.
MIM	174050. phenotype. 608648. gene.
neXtProt	NX_Q9UGP8.
Orphanet	2924. Polycystic liver disease.
PharmGKB	PA134936990.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5407.
HOGENOM	HOG000037933.
HOVERGEN	HBG057075.
InParanoid	Q9UGP8.
KO	K09540.
OMA	TIENCMK.
OrthoDB	EOG48PMJQ.
PhylomeDB	Q9UGP8.
Gene expression databases
ArrayExpress	Q9UGP8.
Bgee	Q9UGP8.
CleanEx	HS_SEC63.
Genevestigator	Q9UGP8.
GermOnline	ENSG00000025796. Homo sapiens.
Family and domain databases
Gene3D	1.10.287.110. 1 hit.
InterPro	IPR001623. DnaJ_domain. IPR027137. Sec63. IPR004179. Sec63-dom. [Graphical view]
PANTHER	PTHR24075. PTHR24075. 1 hit.
Pfam	PF00226. DnaJ. 1 hit. PF02889. Sec63. 1 hit. [Graphical view]
PRINTS	PR00625. JDOMAIN.
SMART	SM00271. DnaJ. 1 hit. SM00611. SEC63. 1 hit. SM00973. Sec63. 1 hit. [Graphical view]
SUPFAM	SSF46565. DnaJ_N. 1 hit.
PROSITE	PS00636. DNAJ_1. False negative. PS50076. DNAJ_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	sec63. human.
GenomeRNAi	11231.
NextBio	42742.
SOURCE	Search...

Entry information

Entry name

SEC63_HUMAN

Accession

Primary (citable) accession number: Q9UGP8
Secondary accession number(s): O95380 , Q5THN4, Q86VS9, Q8IWL0, Q9NTE0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 18, 2001
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 116 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.