Q96DF8 (DGC14_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	DGCR14
Synonyms:	DGCR13, DGSH, DGSI, ES2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	476 AA.
Sequence status	Complete.
Protein existence	Evidence 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

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Nucleus Spliceosome
Coding sequence diversity	Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mRNA splicing, via spliceosome Inferred by curator Ref.6. Source: UniProtKB nervous system development Inferred from sequence or structural similarity Ref.2. Source: UniProtKB
Cellular_component	catalytic step 2 spliceosome Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 476	476	Protein DGCR14		PRO_0000079876
Amino acid modifications
	Modified residue	391	1	Phosphoserine Ref.8
	Modified residue	395	1	Phosphoserine Ref.8
Natural variations
	Natural variant	31	1	A → V. Ref.9		VAR_015117
	Natural variant	336	1	V → M. Ref.9 Corresponds to variant rs17743887 [ dbSNP | Ensembl ].		VAR_015118
	Natural variant	423	1	A → V. Ref.9 Corresponds to variant rs712965 [ dbSNP | Ensembl ].		VAR_015119

Sequences

	Sequence		Length	Mass (Da)
	Q96DF8 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 4B1AAB7932789D73	FASTA	476	52,568
	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

References

	« Hide 'large scale' referencesShow '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]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"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.
IPI	IPI00165171.
RefSeq	NP_073210.1. NM_022719.2.
UniGene	Hs.517407. Hs.741535.
3D structure databases
ProteinModelPortal	Q96DF8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96DF8. 3 interactions.
STRING	9606.ENSP00000252137.
PTM databases
PhosphoSite	Q96DF8.
Polymorphism databases
DMDM	27805463.
Proteomic databases
PaxDb	Q96DF8.
PeptideAtlas	Q96DF8.
PRIDE	Q96DF8.
Protocols and materials databases
DNASU	8220.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000252137; ENSP00000252137; ENSG00000100056.
GeneID	8220.
KEGG	hsa:8220.
UCSC	uc002zou.3. human.
Organism-specific databases
CTD	8220.
GeneCards	GC22M019117.
HGNC	HGNC:16817. DGCR14.
HPA	HPA001221. HPA001222.
MIM	601755. gene.
neXtProt	NX_Q96DF8.
PharmGKB	PA134913100.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG267054.
HOGENOM	HOG000294201.
HOVERGEN	HBG051342.
InParanoid	Q96DF8.
KO	K13118.
OMA	ARRNIGS.
OrthoDB	EOG4BK53V.
Gene expression databases
ArrayExpress	Q96DF8.
Bgee	Q96DF8.
CleanEx	HS_DGCR14.
Genevestigator	Q96DF8.
GermOnline	ENSG00000100056. Homo sapiens.
Family and domain databases
InterPro	IPR019148. Nuclear_protein_DGCR14. [Graphical view]
Pfam	PF09751. Es2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	8220.
NextBio	30947.
SOURCE	Search...

Entry information

Entry name

DGC14_HUMAN

Accession

Primary (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:	April 3, 2013
This is version 104 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.