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Q14129

- DGCR6_HUMAN

UniProt

Q14129 - DGCR6_HUMAN

Protein

Protein DGCR6

Gene

DGCR6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 3 (26 Jul 2002)
      Previous versions | rss
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    Functioni

    May play a role in neural crest cell migration into the third and fourth pharyngeal pouches.

    GO - Biological processi

    1. cell adhesion Source: ProtInc
    2. organ morphogenesis Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein DGCR6
    Alternative name(s):
    DiGeorge syndrome critical region 6
    Gene namesi
    Name:DGCR6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:2846. DGCR6.

    Subcellular locationi

    Nucleus 1 Publication
    Note: Predominantly nuclear.

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. proteinaceous extracellular matrix Source: ProtInc

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27308.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 220220Protein DGCR6PRO_0000070259Add
    BLAST

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ14129.
    PaxDbiQ14129.
    PRIDEiQ14129.

    Expressioni

    Tissue specificityi

    Found in all tissues examined with highest expression in liver, heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain.2 Publications

    Inductioni

    Increased levels in several tumor cell lines, including lung and colon adenocarcinomas and mammary carcinomas. Strongly induced in Burkitt's lymphoma and lymphocytes transformed by EBV.

    Gene expression databases

    ArrayExpressiQ14129.
    BgeeiQ14129.
    CleanExiHS_DGCR6.
    GenevestigatoriQ14129.

    Organism-specific databases

    HPAiHPA047905.

    Interactioni

    Protein-protein interaction databases

    BioGridi113850. 1 interaction.
    STRINGi9606.ENSP00000331681.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14129.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili76 – 14267Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the gonadal family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG285207.
    HOGENOMiHOG000006852.
    HOVERGENiHBG051343.
    InParanoidiQ14129.
    OMAiHYYLLSE.
    PhylomeDBiQ14129.
    TreeFamiTF324608.

    Family and domain databases

    InterProiIPR010849. DGCR6.
    [Graphical view]
    PANTHERiPTHR13054. PTHR13054. 1 hit.
    PfamiPF07324. DGCR6. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q14129-1) [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

    MERYAGALEE VADGARQQER HYQLLSALQS LVKELPSSFQ QRLSYTTLSD    50
    LALALLDGTV FEIVQGLLEI QHLTEKSLYN QRLRLQNEHR VLRQALRQKH 100
    QEAQQACRPH NLPVLQAAQQ RELEAVEHRI REEQRAMDQK IVLELDRKVA 150
    DQQSTLEKAG VAGFYVTTNP QELMLQMNLL ELIRKLQQRG CWAGKAALGL 200
    GGPWQLPAAQ CDQKGSPVPP 220
    Length:220
    Mass (Da):24,989
    Last modified:July 26, 2002 - v3
    Checksum:iDF68DEAF5BF6B8BB
    GO
    Isoform 2 (identifier: Q14129-2) [UniParc]FASTAAdd to Basket

    Also known as: C

    The sequence of this isoform differs from the canonical sequence as follows:
         92-162: LRQALRQKHQ...QSTLEKAGVA → PRTFWNPLET...LCFRRLSSEN
         163-220: Missing.

    Show »
    Length:162
    Mass (Da):18,244
    Checksum:i3B4BBCA6F7587314
    GO

    Sequence cautioni

    The sequence CAA65339.1 differs from that shown. Reason: Frameshift at position 69.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1 – 1212MERYA…LEEVA → PKGAKAGYQPRG(PubMed:8733130)CuratedAdd
    BLAST

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti117 – 1171A → V.
    Corresponds to variant rs16983281 [ dbSNP | Ensembl ].
    VAR_033866

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei92 – 16271LRQAL…KAGVA → PRTFWNPLETCRDSGVGGWR RLASSPVQTPLWPGCSAGLC SGRRCGRSTRKPSRPAGPIT CLCFRRLSSEN in isoform 2. 1 PublicationVSP_055898Add
    BLAST
    Alternative sequencei163 – 22058Missing in isoform 2. 1 PublicationVSP_055899Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF228707 mRNA. Translation: AAK15584.1.
    X96484 mRNA. Translation: CAA65339.1. Frameshift.
    KJ535003 mRNA. Translation: AHW56642.1.
    CR456434 mRNA. Translation: CAG30320.1.
    AK315115 mRNA. Translation: BAG37572.1.
    AC007326 Genomic DNA. No translation available.
    CH471176 Genomic DNA. Translation: EAX03075.1.
    CH471176 Genomic DNA. Translation: EAX03077.1.
    BC047039 mRNA. Translation: AAH47039.1.
    CCDSiCCDS13753.1.
    RefSeqiNP_005666.2. NM_005675.4.
    XP_006724997.1. XM_006724934.1.
    UniGeneiHs.474185.

    Genome annotation databases

    EnsembliENST00000331444; ENSP00000331681; ENSG00000183628. [Q14129-1]
    ENST00000427407; ENSP00000397633; ENSG00000183628. [Q14129-2]
    GeneIDi102724770.
    8214.
    KEGGihsa:102724770.
    hsa:8214.
    UCSCiuc002zoh.4. human.

    Polymorphism databases

    DMDMi22002047.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF228707 mRNA. Translation: AAK15584.1 .
    X96484 mRNA. Translation: CAA65339.1 . Frameshift.
    KJ535003 mRNA. Translation: AHW56642.1 .
    CR456434 mRNA. Translation: CAG30320.1 .
    AK315115 mRNA. Translation: BAG37572.1 .
    AC007326 Genomic DNA. No translation available.
    CH471176 Genomic DNA. Translation: EAX03075.1 .
    CH471176 Genomic DNA. Translation: EAX03077.1 .
    BC047039 mRNA. Translation: AAH47039.1 .
    CCDSi CCDS13753.1.
    RefSeqi NP_005666.2. NM_005675.4.
    XP_006724997.1. XM_006724934.1.
    UniGenei Hs.474185.

    3D structure databases

    ProteinModelPortali Q14129.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113850. 1 interaction.
    STRINGi 9606.ENSP00000331681.

    Polymorphism databases

    DMDMi 22002047.

    Proteomic databases

    MaxQBi Q14129.
    PaxDbi Q14129.
    PRIDEi Q14129.

    Protocols and materials databases

    DNASUi 8214.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331444 ; ENSP00000331681 ; ENSG00000183628 . [Q14129-1 ]
    ENST00000427407 ; ENSP00000397633 ; ENSG00000183628 . [Q14129-2 ]
    GeneIDi 102724770.
    8214.
    KEGGi hsa:102724770.
    hsa:8214.
    UCSCi uc002zoh.4. human.

    Organism-specific databases

    CTDi 8214.
    GeneCardsi GC22P018893.
    GeneReviewsi DGCR6.
    HGNCi HGNC:2846. DGCR6.
    HPAi HPA047905.
    MIMi 601279. gene.
    neXtProti NX_Q14129.
    PharmGKBi PA27308.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG285207.
    HOGENOMi HOG000006852.
    HOVERGENi HBG051343.
    InParanoidi Q14129.
    OMAi HYYLLSE.
    PhylomeDBi Q14129.
    TreeFami TF324608.

    Miscellaneous databases

    GeneWikii DGCR6.
    GenomeRNAii 8214.
    NextBioi 30931.
    PROi Q14129.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14129.
    Bgeei Q14129.
    CleanExi HS_DGCR6.
    Genevestigatori Q14129.

    Family and domain databases

    InterProi IPR010849. DGCR6.
    [Graphical view ]
    PANTHERi PTHR13054. PTHR13054. 1 hit.
    Pfami PF07324. DGCR6. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus."
      Edelmann L., Stankiewicz P., Spiteri E., Pandita R.K., Shaffer L., Lupski J., Morrow B.E.
      Genome Res. 11:208-217(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Fetal spleen.
    2. "Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes."
      Pfuhl T., Duerr M., Spurk A., Schwalbert B., Nord R., Mysliwietz J., Kremmer E., Graesser F.A.
      Hum. Genet. 117:70-80(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, PHOSPHORYLATION.
      Tissue: Fetal brain.
    3. "Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes."
      Demczuk S., Thomas G., Aurias A.
      Hum. Mol. Genet. 5:633-638(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. "Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism."
      Corominas R., Yang X., Lin G.N., Kang S., Shen Y., Ghamsari L., Broly M., Rodriguez M., Tam S., Wanamaker S.A., Fan C., Yi S., Tasan M., Lemmens I., Kuang X., Zhao N., Malhotra D., Michaelson J.J.
      , Vacic V., Calderwood M.A., Roth F.P., Tavernier J., Horvath S., Salehi-Ashtiani K., Korkin D., Sebat J., Hill D.E., Hao T., Vidal M., Iakoucheva L.M.
      Nat. Commun. 5:3650-3650(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Fetal brain.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    6. "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 1).
    7. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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).
      Tissue: Pancreas and Spleen.

    Entry informationi

    Entry nameiDGCR6_HUMAN
    AccessioniPrimary (citable) accession number: Q14129
    Secondary accession number(s): B2RCH5
    , D3DX15, G5E9J8, Q9BY28
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: July 26, 2002
    Last modified: October 1, 2014
    This is version 109 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, 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