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Protein

Splicing factor ESS-2 homolog

Gene

ESS2

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

Functioni

May be involved in pre-mRNA splicing.By similarity

GO - Biological processi

  • mRNA splicing, via spliceosome Source: UniProtKB
  • nervous system development Source: UniProtKB

Keywordsi

Biological processmRNA processing, mRNA splicing

Names & Taxonomyi

Protein namesi
Recommended name:
Splicing factor ESS-2 homologCurated
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:ESS2Imported
Synonyms:DGCR13, DGCR14, DGSH, DGSI, ES2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100056.11
HGNCiHGNC:16817 ESS2
MIMi601755 gene
neXtProtiNX_Q96DF8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Organism-specific databases

DisGeNETi8220
GeneReviewsiDGCR14
MalaCardsiESS2
OpenTargetsiENSG00000100056
PharmGKBiPA134913100

Polymorphism and mutation databases

BioMutaiDGCR14
DMDMi27805463

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000798761 – 476Splicing factor ESS-2 homologAdd BLAST476

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei3PhosphothreonineCombined sources1
Cross-linki142Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei292PhosphoserineCombined sources1
Modified residuei386PhosphothreonineCombined sources1
Modified residuei391PhosphoserineCombined sources1
Modified residuei395PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ96DF8
MaxQBiQ96DF8
PaxDbiQ96DF8
PeptideAtlasiQ96DF8
PRIDEiQ96DF8
ProteomicsDBi76286

PTM databases

iPTMnetiQ96DF8
PhosphoSitePlusiQ96DF8

Expressioni

Tissue specificityi

Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta.1 Publication

Gene expression databases

BgeeiENSG00000100056
CleanExiHS_DGCR14
ExpressionAtlasiQ96DF8 baseline and differential
GenevisibleiQ96DF8 HS

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, 55 interactors
CORUMiQ96DF8
IntActiQ96DF8, 18 interactors
MINTiQ96DF8
STRINGi9606.ENSP00000252137

Structurei

3D structure databases

ProteinModelPortaliQ96DF8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ESS2 family.Curated

Phylogenomic databases

eggNOGiKOG2627 Eukaryota
ENOG410YVA8 LUCA
GeneTreeiENSGT00390000009387
HOGENOMiHOG000294201
HOVERGENiHBG051342
InParanoidiQ96DF8
KOiK13118
OMAiMYVPDGV
OrthoDBiEOG091G0C2M
PhylomeDBiQ96DF8
TreeFamiTF105898

Family and domain databases

InterProiView protein in InterPro
IPR019148 Nuclear_protein_DGCR14_ESS-2
PANTHERiPTHR12940 PTHR12940, 1 hit
PfamiView protein in Pfam
PF09751 Es2, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01511731A → V1 PublicationCorresponds to variant dbSNP:rs113904207Ensembl.1
Natural variantiVAR_015118336V → M1 PublicationCorresponds to variant dbSNP:rs17743887Ensembl.1
Natural variantiVAR_015119423A → V1 PublicationCorresponds to variant dbSNP:rs712965Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L78010 mRNA Translation: AAL40039.1
CR456344 mRNA Translation: CAG30230.1
AC004471 Genomic DNA No translation available.
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.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiESS2_HUMAN
AccessioniPrimary (citable) accession number: Q96DF8
Secondary accession number(s): Q49AH7, Q9BTZ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: December 1, 2001
Last modified: June 20, 2018
This is version 148 of the entry and version 1 of the sequence. See 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

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