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Q7Z4H8

- KDEL2_HUMAN

UniProt

Q7Z4H8 - KDEL2_HUMAN

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
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 2 (25 Jul 2006)
      Previous versions | rss
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    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 lumen Source: UniProtKB-SubCell

    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

    ArrayExpressiQ7Z4H8.
    BgeeiQ7Z4H8.
    CleanExiHS_KDELC2.
    GenevestigatoriQ7Z4H8.

    Organism-specific databases

    HPAiHPA039315.
    HPA039817.

    Interactioni

    Protein-protein interaction databases

    BioGridi126822. 2 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.
    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

    MRRLPRALLL QLRLALLVAA GAPEVLVSAP RSLVWGPGLQ AAVVLPVRYF    50
    YLQAVNSEGQ NLTRSPAGET PFKVVVKSLS PKELVRIHVP KPLDRNDGTF 100
    LMRYRMYETV DEGLKIEVLY GDEHVAQSPY ILKGPVYHEY CECPEDPQAW 150
    QKTLSCPTKE PQIAKDFASF PSINLQQMLK EVPKRFGDER GAIVHYTILN 200
    NHVYRRSLGK YTDFKMFSDE ILLSLTRKVL LPDLEFYVNL GDWPLEHRKV 250
    NGTPSPIPII SWCGSLDSRD VVLPTYDITH SMLEAMRGVT NDLLSIQGNT 300
    GPSWINKTER AFFRGRDSRE ERLQLVQLSK ENPQLLDAGI TGYFFFQEKE 350
    KELGKAKLMG FFDFFKYKYQ VNVDGTVAAY RYPYLMLGDS LVLKQDSPYY 400
    EHFYMALEPW KHYVPIKRNL SDLLEKVKWA KENDEEAKKI AKEGQLMARD 450
    LLQPHRLYCY YYQVLQKYAE RQSSKPEVRD GMELVPQPED STAICQCHRK 500
    KPSREEL 507
    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. 2 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.
    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

    ArrayExpressi Q7Z4H8.
    Bgeei Q7Z4H8.
    CleanExi HS_KDELC2.
    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

    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 1, 2014
    This is version 89 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