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Q14129

- DGCR6_HUMAN

UniProt

Q14129 - DGCR6_HUMAN

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Protein

Protein DGCR6

Gene

DGCR6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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-KW
  2. proteinaceous extracellular matrix Source: ProtInc
Complete GO annotation...

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

BgeeiQ14129.
CleanExiHS_DGCR6.
ExpressionAtlasiQ14129. baseline.
GenevestigatoriQ14129.

Organism-specific databases

HPAiHPA047905.

Interactioni

Protein-protein interaction databases

BioGridi113850. 61 interactions.
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.
GeneTreeiENSGT00390000017663.
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

        10         20         30         40         50
MERYAGALEE VADGARQQER HYQLLSALQS LVKELPSSFQ QRLSYTTLSD
60 70 80 90 100
LALALLDGTV FEIVQGLLEI QHLTEKSLYN QRLRLQNEHR VLRQALRQKH
110 120 130 140 150
QEAQQACRPH NLPVLQAAQQ RELEAVEHRI REEQRAMDQK IVLELDRKVA
160 170 180 190 200
DQQSTLEKAG VAGFYVTTNP QELMLQMNLL ELIRKLQQRG CWAGKAALGL
210 220
GGPWQLPAAQ CDQKGSPVPP
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. [Q14129-1]
RefSeqiNP_005666.2. NM_005675.4. [Q14129-1]
XP_006724997.1. XM_006724934.1. [Q14129-1]
UniGeneiHs.474185.

Genome annotation databases

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

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. [Q14129-1 ]
RefSeqi NP_005666.2. NM_005675.4. [Q14129-1 ]
XP_006724997.1. XM_006724934.1. [Q14129-1 ]
UniGenei Hs.474185.

3D structure databases

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

Protein-protein interaction databases

BioGridi 113850. 61 interactions.
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. [Q14129-1 ]

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.
GeneTreei ENSGT00390000017663.
HOGENOMi HOG000006852.
HOVERGENi HBG051343.
InParanoidi Q14129.
OMAi HYYLLSE.
PhylomeDBi Q14129.
TreeFami TF324608.

Miscellaneous databases

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

Gene expression databases

Bgeei Q14129.
CleanExi HS_DGCR6.
ExpressionAtlasi Q14129. baseline.
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

« Hide 'large scale' publications
  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. 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 29, 2014
This is version 110 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