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Q96DF8

- DGC14_HUMAN

UniProt

Q96DF8 - DGC14_HUMAN

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Protein

Protein DGCR14

Gene

DGCR14

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

Functioni

May be involved in pre-mRNA splicing.

GO - Biological processi

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

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
Complete GO annotation...

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

BgeeiQ96DF8.
CleanExiHS_DGCR14.
ExpressionAtlasiQ96DF8. baseline and differential.
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. 26 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.
GeneTreeiENSGT00390000009387.
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

        10         20         30         40         50
METPGASASS LLLPAASRPP RKREAGEAGA ATSKQRVLDE EEYIEGLQTV
60 70 80 90 100
IQRDFFPDVE KLQAQKEYLE AEENGDLERM RQIAIKFGSA LGKMSREPPP
110 120 130 140 150
PYVTPATFET PEVHAGTGVV GNKPRPRGRG LEDGEAGEEE EKEPLPSLDV
160 170 180 190 200
FLSRYTSEDN ASFQEIMEVA KERSRARHAW LYQAEEEFEK RQKDNLELPS
210 220 230 240 250
AEHQAIESSQ ASVETWKYKA KNSLMYYPEG VPDEEQLFKK PRQVVHKNTR
260 270 280 290 300
FLRDPFSQAL SRCQLQQAAA LNAQHKQGKV GPDGKELIPQ ESPRVGGFGF
310 320 330 340 350
VATPSPAPGV NESPMMTWGE VENTPLRVEG SETPYVDRTP GPAFKILEPG
360 370 380 390 400
RRERLGLKMA NEAAAKNRAK KQEALRRVTE NLASLTPKGL SPAMSPALQR
410 420 430 440 450
LVSRTASKYT DRALRASYTP SPARSTHLKT PASGLQTPTS TPAPGSATRT
460 470
PLTQDPASIT DNLLQLPARR KASDFF
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. 26 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.
GeneTreei ENSGT00390000009387.
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

Bgeei Q96DF8.
CleanExi HS_DGCR14.
ExpressionAtlasi Q96DF8. baseline and differential.
Genevestigatori Q96DF8.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 118 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