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Q14129 (DGCR6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein DGCR6
Alternative name(s):
DiGeorge syndrome critical region 6
Gene names
Name:DGCR6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length220 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Nucleus. Note: Predominantly nuclear. Ref.2

Tissue specificity

Found in all tissues examined with highest expression in liver, heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain. Ref.1 Ref.2

Induction

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.

Sequence similarities

Belongs to the gonadal family.

Sequence caution

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

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DomainCoiled coil
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell adhesion

Traceable author statement Ref.3. Source: ProtInc

organ morphogenesis

Traceable author statement Ref.3. Source: ProtInc

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

proteinaceous extracellular matrix

Traceable author statement Ref.3. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 220220Protein DGCR6
PRO_0000070259

Regions

Coiled coil76 – 14267 Potential

Natural variations

Natural variant1171A → V.
Corresponds to variant rs16983281 [ dbSNP | Ensembl ].
VAR_033866

Experimental info

Sequence conflict1 – 1212MERYA…LEEVA → PKGAKAGYQPRG Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q14129 [UniParc].

Last modified July 26, 2002. Version 3.
Checksum: DF68DEAF5BF6B8BB

FASTA22024,989
        10         20         30         40         50         60 
MERYAGALEE VADGARQQER HYQLLSALQS LVKELPSSFQ QRLSYTTLSD LALALLDGTV 

        70         80         90        100        110        120 
FEIVQGLLEI QHLTEKSLYN QRLRLQNEHR VLRQALRQKH QEAQQACRPH NLPVLQAAQQ 

       130        140        150        160        170        180 
RELEAVEHRI REEQRAMDQK IVLELDRKVA DQQSTLEKAG VAGFYVTTNP QELMLQMNLL 

       190        200        210        220 
ELIRKLQQRG CWAGKAALGL GGPWQLPAAQ CDQKGSPVPP 

« Hide

References

« Hide 'large scale' references
[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], 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], 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].
[4]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"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. expand/collapse author list , 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].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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: Pancreas and Spleen.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF228707 mRNA. Translation: AAK15584.1.
X96484 mRNA. Translation: CAA65339.1. Frameshift.
CR456434 mRNA. Translation: CAG30320.1.
AK315115 mRNA. Translation: BAG37572.1.
CH471176 Genomic DNA. Translation: EAX03075.1.
CH471176 Genomic DNA. Translation: EAX03077.1.
BC047039 mRNA. Translation: AAH47039.1.
CCDSCCDS13753.1.
RefSeqNP_005666.2. NM_005675.4.
XP_006724997.1. XM_006724934.1.
UniGeneHs.474185.

3D structure databases

ProteinModelPortalQ14129.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113850. 1 interaction.
STRING9606.ENSP00000331681.

Polymorphism databases

DMDM22002047.

Proteomic databases

MaxQBQ14129.
PaxDbQ14129.
PRIDEQ14129.

Protocols and materials databases

DNASU8214.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331444; ENSP00000331681; ENSG00000183628.
GeneID102724770.
8214.
KEGGhsa:8214.
UCSCuc002zoh.4. human.

Organism-specific databases

CTD8214.
GeneCardsGC22P018893.
GeneReviewsDGCR6.
HGNCHGNC:2846. DGCR6.
HPAHPA047905.
MIM601279. gene.
neXtProtNX_Q14129.
PharmGKBPA27308.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG285207.
HOGENOMHOG000006852.
HOVERGENHBG051343.
InParanoidQ14129.
OMAHYYLLSE.
PhylomeDBQ14129.
TreeFamTF324608.

Gene expression databases

ArrayExpressQ14129.
BgeeQ14129.
CleanExHS_DGCR6.
GenevestigatorQ14129.

Family and domain databases

InterProIPR010849. DGCR6.
[Graphical view]
PANTHERPTHR13054. PTHR13054. 1 hit.
PfamPF07324. DGCR6. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDGCR6.
GenomeRNAi8214.
NextBio30931.
PROQ14129.
SOURCESearch...

Entry information

Entry nameDGCR6_HUMAN
AccessionPrimary (citable) accession number: Q14129
Secondary accession number(s): B2RCH5, D3DX15, Q9BY28
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: July 26, 2002
Last modified: July 9, 2014
This is version 107 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM