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Q7Z4H8 (KDEL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
KDEL motif-containing protein 2
Gene names
Name:KDELC2
ORF Names:UNQ1904/PRO4350
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length507 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Endoplasmic reticulum lumen Potential.

Sequence similarities

Belongs to the KDELC family.

Contains 1 filamin repeat.

Sequence caution

The sequence BAC05260.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentendoplasmic reticulum lumen

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z4H8-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q7Z4H8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.
     57-67: SEGQNLTRSPA → MVELFIFLFLL
Isoform 3 (identifier: Q7Z4H8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.
     57-67: SEGQNLTRSPA → MVELFIFLFLL
     432-465: ENDEEAKKIAKEGQLMARDLLQPHRLYCYYYQVL → SFTLSPRLECSGTISTHCNLCLPGSRNFVPQPPE
     466-507: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 507487KDEL motif-containing protein 2
PRO_0000247196

Regions

Repeat24 – 134111Filamin
Motif504 – 5074Prevents secretion from ER Potential

Amino acid modifications

Glycosylation611N-linked (GlcNAc...) Ref.5
Glycosylation3061N-linked (GlcNAc...) Ref.5

Natural variations

Alternative sequence1 – 5656Missing in isoform 2 and isoform 3.
VSP_019944
Alternative sequence57 – 6711SEGQNLTRSPA → MVELFIFLFLL in isoform 2 and isoform 3.
VSP_019945
Alternative sequence432 – 46534ENDEE…YYQVL → SFTLSPRLECSGTISTHCNL CLPGSRNFVPQPPE in isoform 3.
VSP_019946
Alternative sequence466 – 50742Missing in isoform 3.
VSP_019947
Natural variant3191R → L. Ref.4
Corresponds to variant rs17853654 [ dbSNP | Ensembl ].
VAR_027086

Experimental info

Sequence conflict1011L → S in AAQ09021. Ref.1
Sequence conflict1151K → T in AAQ09021. Ref.1
Sequence conflict1321L → S in AAQ09021. Ref.1
Sequence conflict1581T → N in AAQ09021. Ref.1
Sequence conflict1611P → T in AAQ09021. Ref.1
Sequence conflict1851R → S in AAQ09021. Ref.1
Sequence conflict1881D → Y in AAQ09021. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 25, 2006. Version 2.
Checksum: 5D268DBE5D7EDB99

FASTA50758,572
        10         20         30         40         50         60 
MRRLPRALLL QLRLALLVAA GAPEVLVSAP RSLVWGPGLQ AAVVLPVRYF YLQAVNSEGQ 

        70         80         90        100        110        120 
NLTRSPAGET PFKVVVKSLS PKELVRIHVP KPLDRNDGTF LMRYRMYETV DEGLKIEVLY 

       130        140        150        160        170        180 
GDEHVAQSPY ILKGPVYHEY CECPEDPQAW QKTLSCPTKE PQIAKDFASF PSINLQQMLK 

       190        200        210        220        230        240 
EVPKRFGDER GAIVHYTILN NHVYRRSLGK YTDFKMFSDE ILLSLTRKVL LPDLEFYVNL 

       250        260        270        280        290        300 
GDWPLEHRKV NGTPSPIPII SWCGSLDSRD VVLPTYDITH SMLEAMRGVT NDLLSIQGNT 

       310        320        330        340        350        360 
GPSWINKTER AFFRGRDSRE ERLQLVQLSK ENPQLLDAGI TGYFFFQEKE KELGKAKLMG 

       370        380        390        400        410        420 
FFDFFKYKYQ VNVDGTVAAY RYPYLMLGDS LVLKQDSPYY EHFYMALEPW KHYVPIKRNL 

       430        440        450        460        470        480 
SDLLEKVKWA KENDEEAKKI AKEGQLMARD LLQPHRLYCY YYQVLQKYAE RQSSKPEVRD 

       490        500 
GMELVPQPED STAICQCHRK KPSREEL 

« Hide

Isoform 2 [UniParc].

Checksum: BCC4F5EBB739A6D3
Show »

FASTA45152,708
Isoform 3 [UniParc].

Checksum: CAA17AF25A4C116F
Show »

FASTA40947,400

References

« Hide 'large scale' references
[1]Ding P., Han W., Xia D., Wu C., Liu Y., Wu C., Ma D.
Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Testis.
[2]"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. expand/collapse author list , 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] (ISOFORM 2).
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 324-507 (ISOFORMS 1/2).
Tissue: Placenta and Uterus.
[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] (ISOFORM 1), VARIANT LEU-319.
Tissue: Testis.
[5]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-61 AND ASN-306.
Tissue: Liver.
[6]"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].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF533708 mRNA. Translation: AAQ09021.1.
AY358616 mRNA. Translation: AAQ88979.1.
AK098206 mRNA. Translation: BAC05260.1. Different initiation.
AK125519 mRNA. Translation: BAC86191.1.
BC036526 mRNA. Translation: AAH36526.3.
RefSeqNP_714916.3. NM_153705.4.
UniGeneHs.83286.

3D structure databases

ProteinModelPortalQ7Z4H8.
SMRQ7Z4H8. Positions 27-134.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126822. 2 interactions.
IntActQ7Z4H8. 1 interaction.
STRING9606.ENSP00000315386.

PTM databases

PhosphoSiteQ7Z4H8.

Polymorphism databases

DMDM110810398.

Proteomic databases

PaxDbQ7Z4H8.
PRIDEQ7Z4H8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000323468; ENSP00000315386; ENSG00000178202. [Q7Z4H8-1]
ENST00000375648; ENSP00000364799; ENSG00000178202. [Q7Z4H8-3]
ENST00000434945; ENSP00000413429; ENSG00000178202. [Q7Z4H8-2]
ENST00000530529; ENSP00000431796; ENSG00000178202. [Q7Z4H8-3]
GeneID143888.
KEGGhsa:143888.
UCSCuc001pki.2. human. [Q7Z4H8-2]
uc001pkj.2. human. [Q7Z4H8-1]

Organism-specific databases

CTD143888.
GeneCardsGC11M108342.
H-InvDBHIX0010092.
HGNCHGNC:28496. KDELC2.
HPAHPA039315.
HPA039817.
neXtProtNX_Q7Z4H8.
PharmGKBPA134904072.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG248922.
HOGENOMHOG000286007.
HOVERGENHBG081852.
InParanoidQ7Z4H8.
OMAPVRYFYL.
OrthoDBEOG7XDBG0.
PhylomeDBQ7Z4H8.
TreeFamTF323280.

Gene expression databases

ArrayExpressQ7Z4H8.
BgeeQ7Z4H8.
CleanExHS_KDELC2.
GenevestigatorQ7Z4H8.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR017868. Filamin/ABP280_repeat-like.
IPR001298. Filamin/ABP280_rpt.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR006598. LipoPS_modifying.
[Graphical view]
PfamPF00630. Filamin. 1 hit.
PF05686. Glyco_transf_90. 1 hit.
[Graphical view]
SMARTSM00672. CAP10. 1 hit.
SM00557. IG_FLMN. 1 hit.
[Graphical view]
SUPFAMSSF81296. SSF81296. 1 hit.
PROSITEPS00014. ER_TARGET. 1 hit.
PS50194. FILAMIN_REPEAT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi143888.
NextBio84805.
PROQ7Z4H8.

Entry information

Entry nameKDEL2_HUMAN
AccessionPrimary (citable) accession number: Q7Z4H8
Secondary accession number(s): Q6UWW2 expand/collapse secondary AC list , Q6ZUM9, Q8N7L8, Q8NE24
Entry history
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: July 25, 2006
Last modified: March 19, 2014
This is version 86 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

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 11

Human chromosome 11: entries, gene names and cross-references to MIM