Q6UW63 (KDEL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
KDEL motif-containing protein 1

Alternative name(s):
Endoplasmic reticulum resident protein 58
Short name=ER protein 58
Short name=ERp58

Gene names

Name:	KDELC1
Synonyms:	EP58
ORF Names:	UNQ1910/PRO4357

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	502 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Endoplasmic reticulum lumen By similarity.
Post-translational modification	N-glycosylated By similarity.
Sequence similarities	Belongs to the KDELC family. Contains 1 filamin repeat.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum
Coding sequence diversity	Polymorphism
Domain	Signal
PTM	Glycoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	endoplasmic reticulum lumen Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 19

19

Potential

Chain

20 – 502

483

KDEL motif-containing protein 1

PRO_0000247163

Regions

Repeat

24 – 130

107

Filamin

Motif

499 – 502

4

Prevents secretion from ER Potential

Amino acid modifications

Glycosylation

302

1

N-linked (GlcNAc...) Potential

Glycosylation

414

1

N-linked (GlcNAc...) Potential

Natural variations

Natural variant

114

1

I → V. Ref.4
Corresponds to variant rs1047740 [ dbSNP | Ensembl ].

VAR_027080

Experimental info

Sequence conflict

109

1

N → S in BAD96287. Ref.2

Sequence conflict

163

1

D → G in BAD96287. Ref.2

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

502

Helix Strand Turn

Details...

Turn

29 – 31

3

Beta strand

39 – 42

4

Beta strand

72 – 76

5

Beta strand

88 – 90

3

Beta strand

93 – 95

3

Beta strand

98 – 100

3

Beta strand

111 – 118

8

Beta strand

125 – 127

3

Sequences

	Sequence		Length	Mass (Da)
	Q6UW63 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 82633729E373E116	FASTA	502	58,043
	10 20 30 40 50 60 MFGTLLLYCF FLATVPALAE TGGERQLSPE KSEIWGPGLK ADVVLPARYF YIQAVDTSGN 70 80 90 100 110 120 KFTSSPGEKV FQVKVSAPEE QFTRVGVQVL DRKDGSFIVR YRMYASYKNL KVEIKFQGQH 130 140 150 160 170 180 VAKSPYILKG PVYHENCDCP LQDSAAWLRE MNCPETIAQI QRDLAHFPAV DPEKIAVEIP 190 200 210 220 230 240 KRFGQRQSLC HYTLKDNKVY IKTHGEHVGF RIFMDAILLS LTRKVKMPDV ELFVNLGDWP 250 260 270 280 290 300 LEKKKSNSNI HPIFSWCGST DSKDIVMPTY DLTDSVLETM GRVSLDMMSV QANTGPPWES 310 320 330 340 350 360 KNSTAVWRGR DSRKERLELV KLSRKHPELI DAAFTNFFFF KHDENLYGPI VKHISFFDFF 370 380 390 400 410 420 KHKYQINIDG TVAAYRLPYL LVGDSVVLKQ DSIYYEHFYN ELQPWKHYIP VKSNLSDLLE 430 440 450 460 470 480 KLKWAKDHDE EAKKIAKAGQ EFARNNLMGD DIFCYYFKLF QEYANLQVSE PQIREGMKRV 490 500 EPQTEDDLFP CTCHRKKTKD EL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Coronary arterial endothelium.
[3]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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], VARIANT VAL-114. Tissue: Cervix carcinoma.
[5]	"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].
[6]	"Solution structure of the filamin domain from human BK158_1 protein." RIKEN structural genomics initiative (RSGI) Submitted (SEP-2006) to the PDB data bank Cited for: STRUCTURE BY NMR OF 20-130.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AY358959 mRNA. Translation: AAQ89318.1.
AK222567 mRNA. Translation: BAD96287.1.
AL157769 Genomic DNA. Translation: CAI14525.1.
BC001297 mRNA. Translation: AAH01297.1.

IPI

IPI00005270.

RefSeq

NP_076994.2. NM_024089.2.

UniGene

Hs.408629.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DI7	NMR	-	A	20-130	[»]

ProteinModelPortal

Q6UW63.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000365172.

Protein family/group databases

CAZy

GT90. Glycosyltransferase Family 90.

PTM databases

PhosphoSite

Q6UW63.

Polymorphism databases

DMDM

74749382.

Proteomic databases

PaxDb

Q6UW63.

PeptideAtlas

Q6UW63.

PRIDE

Q6UW63.

Protocols and materials databases

DNASU

79070.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000376004; ENSP00000365172; ENSG00000134901.

GeneID

79070.

KEGG

hsa:79070.

UCSC

uc001vpq.4. human.

Organism-specific databases

CTD

79070.

GeneCards

GC13M103436.

HGNC

HGNC:19350. KDELC1.

HPA

CAB020780.

MIM

611613. gene.

neXtProt

NX_Q6UW63.

PharmGKB

PA134974174.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG248922.

HOGENOM

HOG000286007.

HOVERGEN

HBG081852.

InParanoid

Q6UW63.

OMA

PEKSEIW.

OrthoDB

EOG4FXR78.

PhylomeDB

Q6UW63.

Gene expression databases

Bgee

Q6UW63.

CleanEx

HS_KDELC1.

Genevestigator

Q6UW63.

GermOnline

ENSG00000134901. Homo sapiens.

Family and domain databases

Gene3D

2.60.40.10. 1 hit.

InterPro

IPR001298. Filamin.
IPR017868. Filamin/ABP280_repeat-like.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR006598. LipoPS_modifying.
[Graphical view]

Pfam

PF00630. Filamin. 1 hit.
PF05686. Glyco_transf_90. 1 hit.
[Graphical view]

SMART

SM00672. CAP10. 1 hit.
SM00557. IG_FLMN. 1 hit.
[Graphical view]

SUPFAM

SSF81296. Ig_E-set. 1 hit.

PROSITE

PS00014. ER_TARGET. 1 hit.
PS50194. FILAMIN_REPEAT. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q6UW63.

GenomeRNAi

79070.

NextBio

67853.

SOURCE

Search...

Entry information

Entry name

KDEL1_HUMAN

Accession

Primary (citable) accession number: Q6UW63
Secondary accession number(s): Q53HL3, Q9BVD2

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 25, 2006
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 82 of the entry and version 1 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.