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P80370

- DLK1_HUMAN

UniProt

P80370 - DLK1_HUMAN

Protein

Protein delta homolog 1

Gene

DLK1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 153 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    May have a role in neuroendocrine differentiation.

    GO - Biological processi

    1. cell differentiation Source: Ensembl
    2. embryonic skeletal system development Source: Ensembl
    3. multicellular organismal development Source: ProtInc
    4. negative regulation of Notch signaling pathway Source: Ensembl
    5. Notch signaling pathway Source: Reactome
    6. post-embryonic development Source: Ensembl

    Enzyme and pathway databases

    ReactomeiREACT_118614. Activated NOTCH1 Transmits Signal to the Nucleus.
    SignaLinkiP80370.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein delta homolog 1
    Short name:
    DLK-1
    Alternative name(s):
    pG2
    Cleaved into the following chain:
    Fetal antigen 1
    Short name:
    FA1
    Gene namesi
    Name:DLK1
    Synonyms:DLK
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:2907. DLK1.

    Subcellular locationi

    GO - Cellular componenti

    1. external side of plasma membrane Source: Ensembl
    2. extracellular space Source: ProtInc
    3. integral component of membrane Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti96184. Maternal uniparental disomy of chromosome 14.
    96334. Paternal uniparental disomy of chromosome 14.
    PharmGKBiPA27363.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 23233 PublicationsAdd
    BLAST
    Chaini24 – 383360Protein delta homolog 1PRO_0000007518Add
    BLAST
    Chaini24 – 303280Fetal antigen 1PRO_0000007519Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi26 ↔ 37PROSITE-ProRule annotation
    Disulfide bondi30 ↔ 43PROSITE-ProRule annotation
    Disulfide bondi45 ↔ 54PROSITE-ProRule annotation
    Disulfide bondi57 ↔ 68PROSITE-ProRule annotation
    Disulfide bondi63 ↔ 74PROSITE-ProRule annotation
    Disulfide bondi76 ↔ 85PROSITE-ProRule annotation
    Disulfide bondi92 ↔ 103PROSITE-ProRule annotation
    Glycosylationi94 – 941O-linked (GalNAc...)1 Publication
    Disulfide bondi97 ↔ 113PROSITE-ProRule annotation
    Glycosylationi100 – 1001N-linked (GlcNAc...)1 Publication
    Disulfide bondi115 ↔ 124PROSITE-ProRule annotation
    Disulfide bondi131 ↔ 144PROSITE-ProRule annotation
    Disulfide bondi138 ↔ 156PROSITE-ProRule annotation
    Glycosylationi143 – 1431O-linked (GalNAc...)1 Publication
    Disulfide bondi158 ↔ 167PROSITE-ProRule annotation
    Glycosylationi163 – 1631O-linked (GalNAc...); partial1 Publication
    Glycosylationi165 – 1651N-linked (GlcNAc...); partial; atypical1 Publication
    Glycosylationi172 – 1721N-linked (GlcNAc...); partial; atypical1 Publication
    Disulfide bondi174 ↔ 185PROSITE-ProRule annotation
    Disulfide bondi179 ↔ 194PROSITE-ProRule annotation
    Disulfide bondi196 ↔ 205PROSITE-ProRule annotation
    Disulfide bondi212 ↔ 223PROSITE-ProRule annotation
    Glycosylationi214 – 2141O-linked (GalNAc...)1 Publication
    Disulfide bondi217 ↔ 233PROSITE-ProRule annotation
    Glycosylationi222 – 2221O-linked (GalNAc...); partial1 Publication
    Disulfide bondi235 ↔ 244PROSITE-ProRule annotation
    Glycosylationi251 – 2511O-linked (GalNAc...); partial1 Publication
    Glycosylationi256 – 2561O-linked (GalNAc...)1 Publication
    Glycosylationi260 – 2601O-linked (GalNAc...); partial1 Publication

    Post-translational modificationi

    N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.2 Publications

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP80370.
    PRIDEiP80370.

    PTM databases

    PhosphoSiteiP80370.

    Expressioni

    Tissue specificityi

    Found within the stromal cells in close contact to the vascular structure of placental villi, yolk sac, fetal liver, adrenal cortex and pancreas and in the beta cells of the islets of Langerhans in the adult pancreas. Found also in some forms of neuroendocrine lung tumor tissue.

    Gene expression databases

    ArrayExpressiP80370.
    BgeeiP80370.
    CleanExiHS_DLK1.
    GenevestigatoriP80370.

    Organism-specific databases

    HPAiCAB005872.
    HPA053879.
    HPA062262.

    Interactioni

    Subunit structurei

    Monomer.

    Protein-protein interaction databases

    BioGridi114316. 2 interactions.
    STRINGi9606.ENSP00000340292.

    Structurei

    3D structure databases

    ProteinModelPortaliP80370.
    SMRiP80370. Positions 19-247.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini24 – 303280ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini328 – 38356CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei304 – 32724HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini24 – 5532EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini53 – 8634EGF-like 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini88 – 12538EGF-like 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini127 – 16842EGF-like 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini170 – 20637EGF-like 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini208 – 24538EGF-like 6PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 6 EGF-like domains.PROSITE-ProRule annotation

    Keywords - Domaini

    EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG306005.
    HOGENOMiHOG000072581.
    HOVERGENiHBG007065.
    InParanoidiP80370.
    OMAiECLCKPE.
    PhylomeDBiP80370.
    TreeFamiTF351835.

    Family and domain databases

    InterProiIPR000742. EG-like_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    [Graphical view]
    PfamiPF00008. EGF. 4 hits.
    PF12661. hEGF. 1 hit.
    [Graphical view]
    SMARTiSM00181. EGF. 6 hits.
    [Graphical view]
    PROSITEiPS00010. ASX_HYDROXYL. 1 hit.
    PS00022. EGF_1. 5 hits.
    PS01186. EGF_2. 5 hits.
    PS50026. EGF_3. 5 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform Long (identifier: P80370-1) [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

    MTATEALLRV LLLLLAFGHS TYGAECFPAC NPQNGFCEDD NVCRCQPGWQ    50
    GPLCDQCVTS PGCLHGLCGE PGQCICTDGW DGELCDRDVR ACSSAPCANN 100
    RTCVSLDDGL YECSCAPGYS GKDCQKKDGP CVINGSPCQH GGTCVDDEGR 150
    ASHASCLCPP GFSGNFCEIV ANSCTPNPCE NDGVCTDIGG DFRCRCPAGF 200
    IDKTCSRPVT NCASSPCQNG GTCLQHTQVS YECLCKPEFT GLTCVKKRAL 250
    SPQQVTRLPS GYGLAYRLTP GVHELPVQQP EHRILKVSMK ELNKKTPLLT 300
    EGQAICFTIL GVLTSLVVLG TVGIVFLNKC ETWVSNLRYN HMLRKKKNLL 350
    LQYNSGEDLA VNIIFPEKID MTTFSKEAGD EEI 383
    Length:383
    Mass (Da):41,300
    Last modified:May 18, 2010 - v3
    Checksum:i9A2813B2801A98BD
    GO
    Isoform Short (identifier: P80370-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         229-301: Missing.

    Show »
    Length:310
    Mass (Da):33,067
    Checksum:i938E477A8F5B4D86
    GO

    Sequence cautioni

    The sequence CAA35582.1 differs from that shown. Reason: Frameshift at positions 22, 108 and 199.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti45 – 473Missing in CAA35582. (PubMed:2308864)Curated
    Sequence conflicti46 – 472QP → HV in CAA78163. (PubMed:8095043)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti73 – 731Q → L.
    Corresponds to variant rs34686110 [ dbSNP | Ensembl ].
    VAR_055715
    Natural varianti101 – 1011R → G.5 Publications
    Corresponds to variant rs6575799 [ dbSNP | Ensembl ].
    VAR_060335
    Natural varianti104 – 1041V → M.
    Corresponds to variant rs2273607 [ dbSNP | Ensembl ].
    VAR_055716
    Natural varianti108 – 1081D → G.2 Publications
    Corresponds to variant rs1058006 [ dbSNP | Ensembl ].
    VAR_060336
    Natural varianti260 – 2601S → N.
    Corresponds to variant rs1058009 [ dbSNP | Ensembl ].
    VAR_055717
    Natural varianti347 – 3471Missing in clone HDLKAAG.
    VAR_002274

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei229 – 30173Missing in isoform Short. 1 PublicationVSP_001377Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z12172 mRNA. Translation: CAA78163.1.
    U15979 mRNA. Translation: AAA75364.1.
    U15981 mRNA. Translation: AAA75365.1.
    X17544 mRNA. Translation: CAA35582.1. Frameshift.
    AL132711 Genomic DNA. No translation available.
    BC013197 mRNA. Translation: AAH13197.1.
    CCDSiCCDS9963.1. [P80370-1]
    PIRiS53716.
    S71548.
    RefSeqiNP_003827.3. NM_003836.5.
    UniGeneiHs.533717.

    Genome annotation databases

    EnsembliENST00000331224; ENSP00000331081; ENSG00000185559. [P80370-2]
    ENST00000341267; ENSP00000340292; ENSG00000185559. [P80370-1]
    GeneIDi8788.
    KEGGihsa:8788.
    UCSCiuc001yhs.4. human. [P80370-1]
    uc001yhu.4. human. [P80370-2]

    Polymorphism databases

    DMDMi296439371.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z12172 mRNA. Translation: CAA78163.1 .
    U15979 mRNA. Translation: AAA75364.1 .
    U15981 mRNA. Translation: AAA75365.1 .
    X17544 mRNA. Translation: CAA35582.1 . Frameshift.
    AL132711 Genomic DNA. No translation available.
    BC013197 mRNA. Translation: AAH13197.1 .
    CCDSi CCDS9963.1. [P80370-1 ]
    PIRi S53716.
    S71548.
    RefSeqi NP_003827.3. NM_003836.5.
    UniGenei Hs.533717.

    3D structure databases

    ProteinModelPortali P80370.
    SMRi P80370. Positions 19-247.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114316. 2 interactions.
    STRINGi 9606.ENSP00000340292.

    Chemistry

    ChEMBLi CHEMBL5671.

    PTM databases

    PhosphoSitei P80370.

    Polymorphism databases

    DMDMi 296439371.

    Proteomic databases

    PaxDbi P80370.
    PRIDEi P80370.

    Protocols and materials databases

    DNASUi 8788.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331224 ; ENSP00000331081 ; ENSG00000185559 . [P80370-2 ]
    ENST00000341267 ; ENSP00000340292 ; ENSG00000185559 . [P80370-1 ]
    GeneIDi 8788.
    KEGGi hsa:8788.
    UCSCi uc001yhs.4. human. [P80370-1 ]
    uc001yhu.4. human. [P80370-2 ]

    Organism-specific databases

    CTDi 8788.
    GeneCardsi GC14P101193.
    H-InvDB HIX0131238.
    HGNCi HGNC:2907. DLK1.
    HPAi CAB005872.
    HPA053879.
    HPA062262.
    MIMi 176290. gene.
    neXtProti NX_P80370.
    Orphaneti 96184. Maternal uniparental disomy of chromosome 14.
    96334. Paternal uniparental disomy of chromosome 14.
    PharmGKBi PA27363.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG306005.
    HOGENOMi HOG000072581.
    HOVERGENi HBG007065.
    InParanoidi P80370.
    OMAi ECLCKPE.
    PhylomeDBi P80370.
    TreeFami TF351835.

    Enzyme and pathway databases

    Reactomei REACT_118614. Activated NOTCH1 Transmits Signal to the Nucleus.
    SignaLinki P80370.

    Miscellaneous databases

    ChiTaRSi DLK1. human.
    GeneWikii DLK1.
    GenomeRNAii 8788.
    NextBioi 32960.
    PROi P80370.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P80370.
    Bgeei P80370.
    CleanExi HS_DLK1.
    Genevestigatori P80370.

    Family and domain databases

    InterProi IPR000742. EG-like_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    [Graphical view ]
    Pfami PF00008. EGF. 4 hits.
    PF12661. hEGF. 1 hit.
    [Graphical view ]
    SMARTi SM00181. EGF. 6 hits.
    [Graphical view ]
    PROSITEi PS00010. ASX_HYDROXYL. 1 hit.
    PS00022. EGF_1. 5 hits.
    PS01186. EGF_2. 5 hits.
    PS50026. EGF_3. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "dlk, a putative mammalian homeotic gene differentially expressed in small cell lung carcinoma and neuroendocrine tumor cell line."
      Laborda J., Sausville E.A., Hoffman T., Notario V.
      J. Biol. Chem. 268:3817-3820(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANTS GLY-101 AND GLY-108.
      Tissue: Adrenal gland.
    2. "dlk, pG2 and Pref-1 mRNAs encode similar proteins belonging to the EGF-like superfamily. Identification of polymorphic variants of this RNA."
      Lee Y.L., Helman L., Hoffman T., Laborda J.
      Biochim. Biophys. Acta 1261:223-232(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), VARIANTS GLY-101 AND GLY-108.
      Tissue: Adrenal gland and Placenta.
    3. "The sequence of an adrenal specific human cDNA, pG2."
      Helman L.J., Sack N., Plon S., Israel M.A.
      Nucleic Acids Res. 18:685-685(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT GLY-101.
      Tissue: Adrenal gland.
    4. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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 LONG), VARIANT GLY-101.
      Tissue: Adrenal gland.
    6. "Protein structure of fetal antigen 1 (FA1). A novel circulating human epidermal-growth-factor-like protein expressed in neuroendocrine tumors and its relation to the gene products of dlk and pG2."
      Jensen C.H., Krogh T.N., Hoejrup P., Clausen P.P., Skjoedt K., Larsson L.-I., Enghild J.J., Teisner B.
      Eur. J. Biochem. 225:83-92(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 24-383, GLYCOSYLATION AT SER-94; ASN-100; THR-143; SER-163; ASN-165; ASN-172; SER-214; THR-222; SER-251 AND SER-260, VARIANT GLY-101.
      Tissue: Amniotic fluid.
    7. "Studies on the isolation, structural analysis and tissue localization of fetal antigen 1 and its relation to a human adrenal-specific cDNA, pG2."
      Jensen C.H., Teisner B., Hoejrup P., Rasmussen H.B., Madsen O.D., Nielsen B., Skjoedt K.
      Hum. Reprod. 8:635-641(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 24-60.
      Tissue: Amniotic fluid.
    8. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z., Henzel W.J.
      Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 24-38.
    9. "Human urinary glycoproteomics; attachment site specific analysis of N-and O-linked glycosylations by CID and ECD."
      Halim A., Nilsson J., Ruetschi U., Hesse C., Larson G.
      Mol. Cell. Proteomics 0:0-0(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT THR-256, STRUCTURE OF CARBOHYDRATES, IDENTIFICATION BY MASS SPECTROMETRY.

    Entry informationi

    Entry nameiDLK1_HUMAN
    AccessioniPrimary (citable) accession number: P80370
    Secondary accession number(s): P15803, Q96DW5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 153 of the entry and version 3 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3