Q7Z4H8 (KDEL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
KDEL motif-containing protein 2

Gene names

Name:	KDELC2
ORF Names:	UNQ1904/PRO4350

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	507 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 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 component	Endoplasmic reticulum
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	endoplasmic 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 507	487	KDEL motif-containing protein 2		PRO_0000247196
Regions
	Repeat	24 – 134	111	Filamin
	Motif	504 – 507	4	Prevents secretion from ER Potential
Amino acid modifications
	Glycosylation	61	1	N-linked (GlcNAc...) Ref.5
	Glycosylation	306	1	N-linked (GlcNAc...) Ref.5
Natural variations
	Alternative sequence	1 – 56	56	Missing in isoform 2 and isoform 3.		VSP_019944
	Alternative sequence	57 – 67	11	SEGQNLTRSPA → MVELFIFLFLL in isoform 2 and isoform 3.		VSP_019945
	Alternative sequence	432 – 465	34	ENDEE…YYQVL → SFTLSPRLECSGTISTHCNL CLPGSRNFVPQPPE in isoform 3.		VSP_019946
	Alternative sequence	466 – 507	42	Missing in isoform 3.		VSP_019947
	Natural variant	319	1	R → L. Ref.4 Corresponds to variant rs17853654 [ dbSNP | Ensembl ].		VAR_027086
Experimental info
	Sequence conflict	101	1	L → S in AAQ09021. Ref.1
	Sequence conflict	115	1	K → T in AAQ09021. Ref.1
	Sequence conflict	132	1	L → S in AAQ09021. Ref.1
	Sequence conflict	158	1	T → N in AAQ09021. Ref.1
	Sequence conflict	161	1	P → T in AAQ09021. Ref.1
	Sequence conflict	185	1	R → S in AAQ09021. Ref.1
	Sequence conflict	188	1	D → Y in AAQ09021. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 25, 2006. Version 2. Checksum: 5D268DBE5D7EDB99	FASTA	507	58,572
	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
	Isoform 2 [UniParc]. Checksum: BCC4F5EBB739A6D3	FASTA	451	52,708
	10 20 30 40 50 60 MVELFIFLFL LGETPFKVVV KSLSPKELVR IHVPKPLDRN DGTFLMRYRM YETVDEGLKI 70 80 90 100 110 120 EVLYGDEHVA QSPYILKGPV YHEYCECPED PQAWQKTLSC PTKEPQIAKD FASFPSINLQ 130 140 150 160 170 180 QMLKEVPKRF GDERGAIVHY TILNNHVYRR SLGKYTDFKM FSDEILLSLT RKVLLPDLEF 190 200 210 220 230 240 YVNLGDWPLE HRKVNGTPSP IPIISWCGSL DSRDVVLPTY DITHSMLEAM RGVTNDLLSI 250 260 270 280 290 300 QGNTGPSWIN KTERAFFRGR DSREERLQLV QLSKENPQLL DAGITGYFFF QEKEKELGKA 310 320 330 340 350 360 KLMGFFDFFK YKYQVNVDGT VAAYRYPYLM LGDSLVLKQD SPYYEHFYMA LEPWKHYVPI 370 380 390 400 410 420 KRNLSDLLEK VKWAKENDEE AKKIAKEGQL MARDLLQPHR LYCYYYQVLQ KYAERQSSKP 430 440 450 EVRDGMELVP QPEDSTAICQ CHRKKPSREE L
	Isoform 3 [UniParc]. Checksum: CAA17AF25A4C116F	FASTA	409	47,400
	10 20 30 40 50 60 MVELFIFLFL LGETPFKVVV KSLSPKELVR IHVPKPLDRN DGTFLMRYRM YETVDEGLKI 70 80 90 100 110 120 EVLYGDEHVA QSPYILKGPV YHEYCECPED PQAWQKTLSC PTKEPQIAKD FASFPSINLQ 130 140 150 160 170 180 QMLKEVPKRF GDERGAIVHY TILNNHVYRR SLGKYTDFKM FSDEILLSLT RKVLLPDLEF 190 200 210 220 230 240 YVNLGDWPLE HRKVNGTPSP IPIISWCGSL DSRDVVLPTY DITHSMLEAM RGVTNDLLSI 250 260 270 280 290 300 QGNTGPSWIN KTERAFFRGR DSREERLQLV QLSKENPQLL DAGITGYFFF QEKEKELGKA 310 320 330 340 350 360 KLMGFFDFFK YKYQVNVDGT VAAYRYPYLM LGDSLVLKQD SPYYEHFYMA LEPWKHYVPI 370 380 390 400 KRNLSDLLEK VKWAKSFTLS PRLECSGTIS THCNLCLPGS RNFVPQPPE

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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.
IPI	IPI00143921. IPI00445699. IPI00783221.
RefSeq	NP_714916.3. NM_153705.4.
UniGene	Hs.83286.
3D structure databases
ProteinModelPortal	Q7Z4H8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z4H8. 1 interaction.
STRING	9606.ENSP00000315386.
PTM databases
PhosphoSite	Q7Z4H8.
Polymorphism databases
DMDM	110810398.
Proteomic databases
PaxDb	Q7Z4H8.
PRIDE	Q7Z4H8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000323468; ENSP00000315386; ENSG00000178202. ENST00000375648; ENSP00000364799; ENSG00000178202. ENST00000434945; ENSP00000413429; ENSG00000178202. ENST00000530529; ENSP00000431796; ENSG00000178202.
GeneID	143888.
KEGG	hsa:143888.
UCSC	uc001pki.2. human. uc001pkj.2. human.
Organism-specific databases
CTD	143888.
GeneCards	GC11M108342.
H-InvDB	HIX0010092.
HGNC	HGNC:28496. KDELC2.
HPA	HPA039315. HPA039817.
neXtProt	NX_Q7Z4H8.
PharmGKB	PA134904072.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG248922.
HOGENOM	HOG000286007.
HOVERGEN	HBG081852.
InParanoid	Q7Z4H8.
OMA	HRLYCYY.
OrthoDB	EOG469QTW.
PhylomeDB	Q7Z4H8.
Gene expression databases
ArrayExpress	Q7Z4H8.
Bgee	Q7Z4H8.
CleanEx	HS_KDELC2.
Genevestigator	Q7Z4H8.
GermOnline	ENSG00000178202. 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
GenomeRNAi	143888.
NextBio	84805.

Entry information

Entry name

KDEL2_HUMAN

Accession

Primary (citable) accession number: Q7Z4H8
Secondary accession number(s): Q6UWW2 , Q6ZUM9, Q8N7L8, Q8NE24

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 25, 2006
Last sequence update:	July 25, 2006
Last modified:	May 1, 2013
This is version 79 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.