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Q96DF8 (DGC14_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. 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·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:DGCR14
Synonyms:DGCR13, DGSH, DGSI, ES2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length476 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in pre-mRNA splicing.

Subunit structure

Identified in the spliceosome C complex. Ref.6

Subcellular location

Nucleus By similarity.

Tissue specificity

Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta. Ref.5

Sequence similarities

Belongs to the DGCR14 family.

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

FRA10AC1Q70Z532EBI-3928124,EBI-710176

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 476476Protein DGCR14
PRO_0000079876

Amino acid modifications

Modified residue11N-acetylmethionine Ref.8
Modified residue3911Phosphoserine Ref.9
Modified residue3951Phosphoserine Ref.9

Natural variations

Natural variant311A → V. Ref.10
Corresponds to variant rs113904207 [ dbSNP | Ensembl ].
VAR_015117
Natural variant3361V → M. Ref.10
Corresponds to variant rs17743887 [ dbSNP | Ensembl ].
VAR_015118
Natural variant4231A → V. Ref.10
Corresponds to variant rs712965 [ dbSNP | Ensembl ].
VAR_015119

Sequences

Sequence LengthMass (Da)Tools
Q96DF8 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 4B1AAB7932789D73

FASTA47652,568
        10         20         30         40         50         60 
METPGASASS LLLPAASRPP RKREAGEAGA ATSKQRVLDE EEYIEGLQTV IQRDFFPDVE 

        70         80         90        100        110        120 
KLQAQKEYLE AEENGDLERM RQIAIKFGSA LGKMSREPPP PYVTPATFET PEVHAGTGVV 

       130        140        150        160        170        180 
GNKPRPRGRG LEDGEAGEEE EKEPLPSLDV FLSRYTSEDN ASFQEIMEVA KERSRARHAW 

       190        200        210        220        230        240 
LYQAEEEFEK RQKDNLELPS AEHQAIESSQ ASVETWKYKA KNSLMYYPEG VPDEEQLFKK 

       250        260        270        280        290        300 
PRQVVHKNTR FLRDPFSQAL SRCQLQQAAA LNAQHKQGKV GPDGKELIPQ ESPRVGGFGF 

       310        320        330        340        350        360 
VATPSPAPGV NESPMMTWGE VENTPLRVEG SETPYVDRTP GPAFKILEPG RRERLGLKMA 

       370        380        390        400        410        420 
NEAAAKNRAK KQEALRRVTE NLASLTPKGL SPAMSPALQR LVSRTASKYT DRALRASYTP 

       430        440        450        460        470 
SPARSTHLKT PASGLQTPTS TPAPGSATRT PLTQDPASIT DNLLQLPARR KASDFF 

« Hide

References

« Hide 'large scale' references
[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]"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].
[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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L78010 mRNA. Translation: AAL40039.1.
CR456344 mRNA. Translation: CAG30230.1.
BC003015 mRNA. Translation: AAH03015.1.
BC006542 mRNA. Translation: AAH06542.1.
CCDSCCDS13756.1.
RefSeqNP_073210.1. NM_022719.2.
UniGeneHs.517407.
Hs.741535.

3D structure databases

ProteinModelPortalQ96DF8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113855. 14 interactions.
IntActQ96DF8. 11 interactions.
MINTMINT-3051980.
STRING9606.ENSP00000252137.

PTM databases

PhosphoSiteQ96DF8.

Polymorphism databases

DMDM27805463.

Proteomic databases

MaxQBQ96DF8.
PaxDbQ96DF8.
PeptideAtlasQ96DF8.
PRIDEQ96DF8.

Protocols and materials databases

DNASU8220.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252137; ENSP00000252137; ENSG00000100056.
GeneID8220.
KEGGhsa:8220.
UCSCuc002zou.3. human.

Organism-specific databases

CTD8220.
GeneCardsGC22M019117.
GeneReviewsDGCR14.
HGNCHGNC:16817. DGCR14.
HPAHPA001221.
HPA001222.
MIM601755. gene.
neXtProtNX_Q96DF8.
PharmGKBPA134913100.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG267054.
HOGENOMHOG000294201.
HOVERGENHBG051342.
InParanoidQ96DF8.
KOK13118.
OMAEKYAWLW.
OrthoDBEOG7ZGX30.
PhylomeDBQ96DF8.
TreeFamTF105898.

Gene expression databases

ArrayExpressQ96DF8.
BgeeQ96DF8.
CleanExHS_DGCR14.
GenevestigatorQ96DF8.

Family and domain databases

InterProIPR019148. Nuclear_protein_DGCR14.
[Graphical view]
PfamPF09751. Es2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDGCR14.
GenomeRNAi8220.
NextBio30947.
PROQ96DF8.
SOURCESearch...

Entry information

Entry nameDGC14_HUMAN
AccessionPrimary (citable) accession number: Q96DF8
Secondary accession number(s): Q49AH7, Q9BTZ4
Entry history
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 116 of the entry and version 1 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