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Q7Z4H8

- KDEL2_HUMAN

UniProt

Q7Z4H8 - KDEL2_HUMAN

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Protein

KDEL motif-containing protein 2

Gene

KDELC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
KDEL motif-containing protein 2
Gene namesi
Name:KDELC2
ORF Names:UNQ1904/PRO4350
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:28496. KDELC2.

Subcellular locationi

Endoplasmic reticulum lumen PROSITE-ProRule annotation

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134904072.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 507487KDEL motif-containing protein 2PRO_0000247196Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi61 – 611N-linked (GlcNAc...)1 Publication
Glycosylationi306 – 3061N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ7Z4H8.
PaxDbiQ7Z4H8.
PRIDEiQ7Z4H8.

PTM databases

PhosphoSiteiQ7Z4H8.

Expressioni

Gene expression databases

BgeeiQ7Z4H8.
CleanExiHS_KDELC2.
ExpressionAtlasiQ7Z4H8. baseline and differential.
GenevestigatoriQ7Z4H8.

Organism-specific databases

HPAiHPA039315.
HPA039817.

Interactioni

Protein-protein interaction databases

BioGridi126822. 3 interactions.
IntActiQ7Z4H8. 1 interaction.
STRINGi9606.ENSP00000315386.

Structurei

3D structure databases

ProteinModelPortaliQ7Z4H8.
SMRiQ7Z4H8. Positions 27-134.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati24 – 134111FilaminAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi504 – 5074Prevents secretion from ERPROSITE-ProRule annotation

Sequence similaritiesi

Belongs to the KDELC family.Curated
Contains 1 filamin repeat.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG248922.
GeneTreeiENSGT00530000063132.
HOGENOMiHOG000286007.
HOVERGENiHBG081852.
InParanoidiQ7Z4H8.
OMAiPVRYFYL.
OrthoDBiEOG7XDBG0.
PhylomeDBiQ7Z4H8.
TreeFamiTF323280.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR017868. Filamin/ABP280_repeat-like.
IPR001298. Filamin/ABP280_rpt.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR006598. LipoPS_modifying.
[Graphical view]
PfamiPF00630. Filamin. 1 hit.
PF05686. Glyco_transf_90. 1 hit.
[Graphical view]
SMARTiSM00672. CAP10. 1 hit.
SM00557. IG_FLMN. 1 hit.
[Graphical view]
SUPFAMiSSF81296. SSF81296. 1 hit.
PROSITEiPS00014. ER_TARGET. 1 hit.
PS50194. FILAMIN_REPEAT. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q7Z4H8-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MRRLPRALLL QLRLALLVAA GAPEVLVSAP RSLVWGPGLQ AAVVLPVRYF
60 70 80 90 100
YLQAVNSEGQ NLTRSPAGET PFKVVVKSLS PKELVRIHVP KPLDRNDGTF
110 120 130 140 150
LMRYRMYETV DEGLKIEVLY GDEHVAQSPY ILKGPVYHEY CECPEDPQAW
160 170 180 190 200
QKTLSCPTKE PQIAKDFASF PSINLQQMLK EVPKRFGDER GAIVHYTILN
210 220 230 240 250
NHVYRRSLGK YTDFKMFSDE ILLSLTRKVL LPDLEFYVNL GDWPLEHRKV
260 270 280 290 300
NGTPSPIPII SWCGSLDSRD VVLPTYDITH SMLEAMRGVT NDLLSIQGNT
310 320 330 340 350
GPSWINKTER AFFRGRDSRE ERLQLVQLSK ENPQLLDAGI TGYFFFQEKE
360 370 380 390 400
KELGKAKLMG FFDFFKYKYQ VNVDGTVAAY RYPYLMLGDS LVLKQDSPYY
410 420 430 440 450
EHFYMALEPW KHYVPIKRNL SDLLEKVKWA KENDEEAKKI AKEGQLMARD
460 470 480 490 500
LLQPHRLYCY YYQVLQKYAE RQSSKPEVRD GMELVPQPED STAICQCHRK

KPSREEL
Length:507
Mass (Da):58,572
Last modified:July 25, 2006 - v2
Checksum:i5D268DBE5D7EDB99
GO
Isoform 2 (identifier: Q7Z4H8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.
     57-67: SEGQNLTRSPA → MVELFIFLFLL

Show »
Length:451
Mass (Da):52,708
Checksum:iBCC4F5EBB739A6D3
GO
Isoform 3 (identifier: Q7Z4H8-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:409
Mass (Da):47,400
Checksum:iCAA17AF25A4C116F
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti101 – 1011L → S in AAQ09021. 1 PublicationCurated
Sequence conflicti115 – 1151K → T in AAQ09021. 1 PublicationCurated
Sequence conflicti132 – 1321L → S in AAQ09021. 1 PublicationCurated
Sequence conflicti158 – 1581T → N in AAQ09021. 1 PublicationCurated
Sequence conflicti161 – 1611P → T in AAQ09021. 1 PublicationCurated
Sequence conflicti185 – 1851R → S in AAQ09021. 1 PublicationCurated
Sequence conflicti188 – 1881D → Y in AAQ09021. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti319 – 3191R → L.1 Publication
Corresponds to variant rs17853654 [ dbSNP | Ensembl ].
VAR_027086

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5656Missing in isoform 2 and isoform 3. 2 PublicationsVSP_019944Add
BLAST
Alternative sequencei57 – 6711SEGQNLTRSPA → MVELFIFLFLL in isoform 2 and isoform 3. 2 PublicationsVSP_019945Add
BLAST
Alternative sequencei432 – 46534ENDEE…YYQVL → SFTLSPRLECSGTISTHCNL CLPGSRNFVPQPPE in isoform 3. 1 PublicationVSP_019946Add
BLAST
Alternative sequencei466 – 50742Missing in isoform 3. 1 PublicationVSP_019947Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS41711.1. [Q7Z4H8-1]
RefSeqiNP_714916.3. NM_153705.4. [Q7Z4H8-1]
UniGeneiHs.83286.

Genome annotation databases

EnsembliENST00000323468; ENSP00000315386; ENSG00000178202. [Q7Z4H8-1]
ENST00000434945; ENSP00000413429; ENSG00000178202. [Q7Z4H8-2]
ENST00000530529; ENSP00000431796; ENSG00000178202. [Q7Z4H8-3]
GeneIDi143888.
KEGGihsa:143888.
UCSCiuc001pki.2. human. [Q7Z4H8-2]
uc001pkj.2. human. [Q7Z4H8-1]

Polymorphism databases

DMDMi110810398.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS41711.1. [Q7Z4H8-1 ]
RefSeqi NP_714916.3. NM_153705.4. [Q7Z4H8-1 ]
UniGenei Hs.83286.

3D structure databases

ProteinModelPortali Q7Z4H8.
SMRi Q7Z4H8. Positions 27-134.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126822. 3 interactions.
IntActi Q7Z4H8. 1 interaction.
STRINGi 9606.ENSP00000315386.

PTM databases

PhosphoSitei Q7Z4H8.

Polymorphism databases

DMDMi 110810398.

Proteomic databases

MaxQBi Q7Z4H8.
PaxDbi Q7Z4H8.
PRIDEi Q7Z4H8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000323468 ; ENSP00000315386 ; ENSG00000178202 . [Q7Z4H8-1 ]
ENST00000434945 ; ENSP00000413429 ; ENSG00000178202 . [Q7Z4H8-2 ]
ENST00000530529 ; ENSP00000431796 ; ENSG00000178202 . [Q7Z4H8-3 ]
GeneIDi 143888.
KEGGi hsa:143888.
UCSCi uc001pki.2. human. [Q7Z4H8-2 ]
uc001pkj.2. human. [Q7Z4H8-1 ]

Organism-specific databases

CTDi 143888.
GeneCardsi GC11M108342.
H-InvDB HIX0010092.
HGNCi HGNC:28496. KDELC2.
HPAi HPA039315.
HPA039817.
neXtProti NX_Q7Z4H8.
PharmGKBi PA134904072.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG248922.
GeneTreei ENSGT00530000063132.
HOGENOMi HOG000286007.
HOVERGENi HBG081852.
InParanoidi Q7Z4H8.
OMAi PVRYFYL.
OrthoDBi EOG7XDBG0.
PhylomeDBi Q7Z4H8.
TreeFami TF323280.

Miscellaneous databases

GenomeRNAii 143888.
NextBioi 84805.
PROi Q7Z4H8.

Gene expression databases

Bgeei Q7Z4H8.
CleanExi HS_KDELC2.
ExpressionAtlasi Q7Z4H8. baseline and differential.
Genevestigatori Q7Z4H8.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR017868. Filamin/ABP280_repeat-like.
IPR001298. Filamin/ABP280_rpt.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR006598. LipoPS_modifying.
[Graphical view ]
Pfami PF00630. Filamin. 1 hit.
PF05686. Glyco_transf_90. 1 hit.
[Graphical view ]
SMARTi SM00672. CAP10. 1 hit.
SM00557. IG_FLMN. 1 hit.
[Graphical view ]
SUPFAMi SSF81296. SSF81296. 1 hit.
PROSITEi PS00014. ER_TARGET. 1 hit.
PS50194. FILAMIN_REPEAT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    Tissue: Liver.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiKDEL2_HUMAN
AccessioniPrimary (citable) accession number: Q7Z4H8
Secondary accession number(s): Q6UWW2
, Q6ZUM9, Q8N7L8, Q8NE24
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: July 25, 2006
Last modified: October 29, 2014
This is version 90 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3