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Protein

U11/U12 small nuclear ribonucleoprotein 48 kDa protein

Gene

SNRNP48

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

Functioni

Likely involved in U12-type 5' splice site recognition.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri55 – 82CHHC U11-48K-typePROSITE-ProRule annotationAdd BLAST28

GO - Molecular functioni

GO - Biological processi

  • mRNA splicing, via spliceosome Source: Reactome
  • RNA splicing Source: HGNC

Keywordsi

Biological processmRNA processing, mRNA splicing
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-72165 mRNA Splicing - Minor Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
U11/U12 small nuclear ribonucleoprotein 48 kDa protein
Short name:
U11/U12 snRNP 48 kDa protein
Short name:
U11/U12-48K
Gene namesi
Name:SNRNP48
Synonyms:C6orf151
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000168566.12
HGNCiHGNC:21368 SNRNP48
neXtProtiNX_Q6IEG0

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

OpenTargetsiENSG00000168566
PharmGKBiPA164726157

Polymorphism and mutation databases

BioMutaiSNRNP48
DMDMi71152380

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000895441 – 339U11/U12 small nuclear ribonucleoprotein 48 kDa proteinAdd BLAST339

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki87Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki104Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ6IEG0
MaxQBiQ6IEG0
PaxDbiQ6IEG0
PeptideAtlasiQ6IEG0
PRIDEiQ6IEG0
ProteomicsDBi66412
66413 [Q6IEG0-2]

PTM databases

iPTMnetiQ6IEG0
PhosphoSitePlusiQ6IEG0

Expressioni

Gene expression databases

BgeeiENSG00000168566
CleanExiHS_SNRNP48
ExpressionAtlasiQ6IEG0 baseline and differential
GenevisibleiQ6IEG0 HS

Organism-specific databases

HPAiHPA029234

Interactioni

Subunit structurei

Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Not found in the major spliceosome.1 Publication

Protein-protein interaction databases

BioGridi127530, 13 interactors
CORUMiQ6IEG0
IntActiQ6IEG0, 3 interactors
MINTiQ6IEG0
STRINGi9606.ENSP00000339834

Structurei

Secondary structure

1339
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi55 – 57Combined sources3
Turni59 – 61Combined sources3
Beta strandi65 – 67Combined sources3
Helixi68 – 70Combined sources3
Helixi71 – 82Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VY4NMR-A53-87[»]
2VY5NMR-A53-87[»]
ProteinModelPortaliQ6IEG0
SMRiQ6IEG0
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6IEG0

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi294 – 335Arg-richAdd BLAST42

Domaini

The CHHC region interacts with the 5' splice site of the U12-type intron.2 Publications

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri55 – 82CHHC U11-48K-typePROSITE-ProRule annotationAdd BLAST28

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IHT8 Eukaryota
ENOG4111HUN LUCA
GeneTreeiENSGT00390000004886
HOGENOMiHOG000013168
HOVERGENiHBG058750
InParanoidiQ6IEG0
KOiK13156
OMAiELSSHWQ
OrthoDBiEOG091G0GRK
PhylomeDBiQ6IEG0
TreeFamiTF332204

Family and domain databases

InterProiView protein in InterPro
IPR032845 Snrnp48
IPR022776 TRM13/UPF0224_CHHC_Znf_dom
IPR036236 Znf_C2H2_sf
PANTHERiPTHR21402:SF10 PTHR21402:SF10, 1 hit
PfamiView protein in Pfam
PF05253 zf-U11-48K, 1 hit
SUPFAMiSSF57667 SSF57667, 1 hit
PROSITEiView protein in PROSITE
PS51800 ZF_CHHC_U11_48K, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6IEG0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEGEPPPVEE RRRLQEELNE FVESGCRTLE EVTASLGWDL DSLDPGEEEA
60 70 80 90 100
AEDEVVICPY DSNHHMPKSS LAKHMASCRL RKMGYTKEEE DEMYNPEFFY
110 120 130 140 150
ENVKIPSITL NKDSQFQIIK QARTAVGKDS DCYNQRIYSS LPVEVPLNHK
160 170 180 190 200
RFVCDLTQAD RLALYDFVVE ETKKKRSDSQ IIENDSDLFV DLAAKINQDN
210 220 230 240 250
SRKSPKSYLE ILAEVRDYKR RRQSYRAKNV HITKKSYTEV IRDVINVHME
260 270 280 290 300
ELSNHWQEEQ EKAEDDAEKN EERRSASVDS RQSGGSYLDA ECSRHRRDRS
310 320 330
RSPHKRKRNK DKDKNCESRR RKERDGERHH SHKRRKQKI
Length:339
Mass (Da):39,965
Last modified:July 19, 2005 - v2
Checksum:iBB761BCD40E468C5
GO
Isoform 2 (identifier: Q6IEG0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     136-144: RIYSSLPVE → IIGVSIKRN
     145-336: Missing.

Note: No experimental confirmation available.
Show »
Length:147
Mass (Da):16,902
Checksum:iE04B11117AEE2656
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti237Y → C in AL832462 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03367845P → L1 PublicationCorresponds to variant dbSNP:rs2757594Ensembl.1
Natural variantiVAR_050812281R → Q. Corresponds to variant dbSNP:rs3823184Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014640136 – 144RIYSSLPVE → IIGVSIKRN in isoform 2. 1 Publication9
Alternative sequenceiVSP_014641145 – 336Missing in isoform 2. 1 PublicationAdd BLAST192

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056796 mRNA Translation: BAB71287.1
AK292409 mRNA Translation: BAF85098.1
AL832462 mRNA No translation available.
AL031058 Genomic DNA No translation available.
AL390026 Genomic DNA Translation: CAI20238.1
CH471087 Genomic DNA Translation: EAW55216.1
BC114630 mRNA Translation: AAI14631.1
BC114631 mRNA Translation: AAI14632.1
BK005199 mRNA Translation: DAA05497.1 Sequence problems.
CCDSiCCDS4502.1 [Q6IEG0-1]
RefSeqiNP_689764.3, NM_152551.3 [Q6IEG0-1]
UniGeneiHs.13366

Genome annotation databases

EnsembliENST00000342415; ENSP00000339834; ENSG00000168566 [Q6IEG0-1]
GeneIDi154007
KEGGihsa:154007
UCSCiuc003mxr.3 human [Q6IEG0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSNR48_HUMAN
AccessioniPrimary (citable) accession number: Q6IEG0
Secondary accession number(s): A8K8P4
, Q14C91, Q5T339, Q5THM1, Q5THM2, Q96MK1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 19, 2005
Last modified: June 20, 2018
This is version 121 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

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