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Q96DF8

- DGC14_HUMAN

UniProt

Q96DF8 - DGC14_HUMAN

Protein

Protein DGCR14

Gene

DGCR14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    May be involved in pre-mRNA splicing.

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. mRNA splicing, via spliceosome Source: UniProtKB
    2. nervous system development Source: UniProtKB

    Keywords - Biological processi

    mRNA processing, mRNA splicing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein DGCR14
    Alternative name(s):
    DiGeorge syndrome critical region 13
    DiGeorge syndrome critical region 14
    DiGeorge syndrome protein H
    Short name:
    DGS-H
    Protein ES2
    Gene namesi
    Name:DGCR14
    Synonyms:DGCR13, DGSH, DGSI, ES2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:16817. DGCR14.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. catalytic step 2 spliceosome Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus, Spliceosome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134913100.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 476476Protein DGCR14PRO_0000079876Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei391 – 3911Phosphoserine1 Publication
    Modified residuei395 – 3951Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ96DF8.
    PaxDbiQ96DF8.
    PeptideAtlasiQ96DF8.
    PRIDEiQ96DF8.

    PTM databases

    PhosphoSiteiQ96DF8.

    Expressioni

    Tissue specificityi

    Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta.1 Publication

    Gene expression databases

    ArrayExpressiQ96DF8.
    BgeeiQ96DF8.
    CleanExiHS_DGCR14.
    GenevestigatoriQ96DF8.

    Organism-specific databases

    HPAiHPA001221.
    HPA001222.

    Interactioni

    Subunit structurei

    Identified in the spliceosome C complex.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    FRA10AC1Q70Z532EBI-3928124,EBI-710176

    Protein-protein interaction databases

    BioGridi113855. 14 interactions.
    IntActiQ96DF8. 11 interactions.
    MINTiMINT-3051980.
    STRINGi9606.ENSP00000252137.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96DF8.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the DGCR14 family.Curated

    Phylogenomic databases

    eggNOGiNOG267054.
    HOGENOMiHOG000294201.
    HOVERGENiHBG051342.
    InParanoidiQ96DF8.
    KOiK13118.
    OMAiEKYAWLW.
    OrthoDBiEOG7ZGX30.
    PhylomeDBiQ96DF8.
    TreeFamiTF105898.

    Family and domain databases

    InterProiIPR019148. Nuclear_protein_DGCR14.
    [Graphical view]
    PfamiPF09751. Es2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q96DF8-1 [UniParc]FASTAAdd to Basket

    « Hide

    METPGASASS LLLPAASRPP RKREAGEAGA ATSKQRVLDE EEYIEGLQTV    50
    IQRDFFPDVE KLQAQKEYLE AEENGDLERM RQIAIKFGSA LGKMSREPPP 100
    PYVTPATFET PEVHAGTGVV GNKPRPRGRG LEDGEAGEEE EKEPLPSLDV 150
    FLSRYTSEDN ASFQEIMEVA KERSRARHAW LYQAEEEFEK RQKDNLELPS 200
    AEHQAIESSQ ASVETWKYKA KNSLMYYPEG VPDEEQLFKK PRQVVHKNTR 250
    FLRDPFSQAL SRCQLQQAAA LNAQHKQGKV GPDGKELIPQ ESPRVGGFGF 300
    VATPSPAPGV NESPMMTWGE VENTPLRVEG SETPYVDRTP GPAFKILEPG 350
    RRERLGLKMA NEAAAKNRAK KQEALRRVTE NLASLTPKGL SPAMSPALQR 400
    LVSRTASKYT DRALRASYTP SPARSTHLKT PASGLQTPTS TPAPGSATRT 450
    PLTQDPASIT DNLLQLPARR KASDFF 476
    Length:476
    Mass (Da):52,568
    Last modified:December 1, 2001 - v1
    Checksum:i4B1AAB7932789D73
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311A → V.1 Publication
    Corresponds to variant rs113904207 [ dbSNP | Ensembl ].
    VAR_015117
    Natural varianti336 – 3361V → M.1 Publication
    Corresponds to variant rs17743887 [ dbSNP | Ensembl ].
    VAR_015118
    Natural varianti423 – 4231A → V.1 Publication
    Corresponds to variant rs712965 [ dbSNP | Ensembl ].
    VAR_015119

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L78010 mRNA. Translation: AAL40039.1.
    CR456344 mRNA. Translation: CAG30230.1.
    BC003015 mRNA. Translation: AAH03015.1.
    BC006542 mRNA. Translation: AAH06542.1.
    CCDSiCCDS13756.1.
    RefSeqiNP_073210.1. NM_022719.2.
    UniGeneiHs.517407.
    Hs.741535.

    Genome annotation databases

    EnsembliENST00000252137; ENSP00000252137; ENSG00000100056.
    GeneIDi8220.
    KEGGihsa:8220.
    UCSCiuc002zou.3. human.

    Polymorphism databases

    DMDMi27805463.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L78010 mRNA. Translation: AAL40039.1 .
    CR456344 mRNA. Translation: CAG30230.1 .
    BC003015 mRNA. Translation: AAH03015.1 .
    BC006542 mRNA. Translation: AAH06542.1 .
    CCDSi CCDS13756.1.
    RefSeqi NP_073210.1. NM_022719.2.
    UniGenei Hs.517407.
    Hs.741535.

    3D structure databases

    ProteinModelPortali Q96DF8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113855. 14 interactions.
    IntActi Q96DF8. 11 interactions.
    MINTi MINT-3051980.
    STRINGi 9606.ENSP00000252137.

    PTM databases

    PhosphoSitei Q96DF8.

    Polymorphism databases

    DMDMi 27805463.

    Proteomic databases

    MaxQBi Q96DF8.
    PaxDbi Q96DF8.
    PeptideAtlasi Q96DF8.
    PRIDEi Q96DF8.

    Protocols and materials databases

    DNASUi 8220.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000252137 ; ENSP00000252137 ; ENSG00000100056 .
    GeneIDi 8220.
    KEGGi hsa:8220.
    UCSCi uc002zou.3. human.

    Organism-specific databases

    CTDi 8220.
    GeneCardsi GC22M019117.
    GeneReviewsi DGCR14.
    HGNCi HGNC:16817. DGCR14.
    HPAi HPA001221.
    HPA001222.
    MIMi 601755. gene.
    neXtProti NX_Q96DF8.
    PharmGKBi PA134913100.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG267054.
    HOGENOMi HOG000294201.
    HOVERGENi HBG051342.
    InParanoidi Q96DF8.
    KOi K13118.
    OMAi EKYAWLW.
    OrthoDBi EOG7ZGX30.
    PhylomeDBi Q96DF8.
    TreeFami TF105898.

    Miscellaneous databases

    GeneWikii DGCR14.
    GenomeRNAii 8220.
    NextBioi 30947.
    PROi Q96DF8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96DF8.
    Bgeei Q96DF8.
    CleanExi HS_DGCR14.
    Genevestigatori Q96DF8.

    Family and domain databases

    InterProi IPR019148. Nuclear_protein_DGCR14.
    [Graphical view ]
    Pfami PF09751. Es2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart."
      Lindsay E.A., Rizzu P., Antonacci R., Jurecic V., Delmas-Mata J., Lee C.-C., Kim U.-J., Scambler P.J., Baldini A.
      Genomics 32:104-112(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Heart.
    2. "Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans."
      Rizzu P., Lindsay E.A., Taylor C., O'Donnell H., Levy A., Scambler P.J., Baldini A.
      Mamm. Genome 7:639-643(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Heart.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    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].
      Tissue: Lung.
    5. "A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11."
      Gong W., Emanuel B.S., Collins J., Kim D.H., Wang Z., Chen F., Zhang G., Roe B., Budarf M.L.
      Hum. Mol. Genet. 5:789-800(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    6. "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis."
      Jurica M.S., Licklider L.J., Gygi S.P., Grigorieff N., Moore M.J.
      RNA 8:426-439(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE SPLICEOSOMAL C COMPLEX.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-391 AND SER-395, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region."
      Gong W., Emanuel B.S., Galili N., Kim D.H., Roe B.A., Driscoll D.A., Budarf M.L.
      Hum. Mol. Genet. 6:267-276(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VAL-31; MET-336 AND VAL-423.

    Entry informationi

    Entry nameiDGC14_HUMAN
    AccessioniPrimary (citable) accession number: Q96DF8
    Secondary accession number(s): Q49AH7, Q9BTZ4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 17, 2003
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 117 of the entry and version 1 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 22
      Human chromosome 22: 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