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Protein

Protein AAR2 homolog

Gene

AAR2

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

Functioni

Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing.By similarity

GO - Biological processi

Keywordsi

Biological processmRNA processing, mRNA splicing

Names & Taxonomyi

Protein namesi
Recommended name:
Protein AAR2 homolog
Alternative name(s):
AAR2 splicing factor homolog
Gene namesi
Name:AAR2
Synonyms:C20orf4
ORF Names:CGI-23, PRO0225
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000131043.11
HGNCiHGNC:15886 AAR2
MIMi617365 gene
neXtProtiNX_Q9Y312

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

Spliceosome

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000131043
PharmGKBiPA25753

Polymorphism and mutation databases

DMDMi24211603

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002097062 – 384Protein AAR2 homologAdd BLAST383

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9Y312
MaxQBiQ9Y312
PaxDbiQ9Y312
PeptideAtlasiQ9Y312
PRIDEiQ9Y312

PTM databases

iPTMnetiQ9Y312
PhosphoSitePlusiQ9Y312

Expressioni

Gene expression databases

BgeeiENSG00000131043
CleanExiHS_C20orf4
ExpressionAtlasiQ9Y312 baseline and differential
GenevisibleiQ9Y312 HS

Organism-specific databases

HPAiCAB034220
HPA048645

Interactioni

Subunit structurei

Interacts with PRPF8 (via RNase H homology domain) (PubMed:26527271). Component of a U5 snRNP complex that contains PRPF8 (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi117464, 53 interactors
IntActiQ9Y312, 13 interactors
STRINGi9606.ENSP00000313674

Structurei

3D structure databases

ProteinModelPortaliQ9Y312
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the AAR2 family.Curated

Phylogenomic databases

eggNOGiKOG3937 Eukaryota
ENOG410XSI4 LUCA
GeneTreeiENSGT00390000007796
HOGENOMiHOG000225103
HOVERGENiHBG051148
InParanoidiQ9Y312
KOiK13205
OMAiIPPDFFV
PhylomeDBiQ9Y312
TreeFamiTF315089

Family and domain databases

CDDicd13778 Aar2_C, 1 hit
cd13777 Aar2_N, 1 hit
Gene3Di1.25.40.550, 1 hit
2.60.34.20, 1 hit
InterProiView protein in InterPro
IPR007946 AAR2
IPR033648 AAR2_C
IPR038514 AAR2_C_sf
IPR033647 Aar2_N
IPR038516 AAR2_N_sf
PANTHERiPTHR12689 PTHR12689, 1 hit
PfamiView protein in Pfam
PF05282 AAR2, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9Y312-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAVQMDPEL AKRLFFEGAT VVILNMPKGT EFGIDYNSWE VGPKFRGVKM
60 70 80 90 100
IPPGIHFLHY SSVDKANPKE VGPRMGFFLS LHQRGLTVLR WSTLREEVDL
110 120 130 140 150
SPAPESEVEA MRANLQELDQ FLGPYPYATL KKWISLTNFI SEATVEKLQP
160 170 180 190 200
ENRQICAFSD VLPVLSMKHT KDRVGQNLPR CGIECKSYQE GLARLPEMKP
210 220 230 240 250
RAGTEIRFSE LPTQMFPEGA TPAEITKHSM DLSYALETVL NKQFPSSPQD
260 270 280 290 300
VLGELQFAFV CFLLGNVYEA FEHWKRLLNL LCRSEAAMMK HHTLYINLIS
310 320 330 340 350
ILYHQLGEIP ADFFVDIVSQ DNFLTSTLQV FFSSACSIAV DATLRKKAEK
360 370 380
FQAHLTKKFR WDFAAEPEDC APVVVELPEG IEMG
Length:384
Mass (Da):43,472
Last modified:October 19, 2002 - v2
Checksum:i01194E1DEC644F4D
GO

Sequence cautioni

The sequence AAF29578 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti45F → L in CAB55913 (PubMed:11230166).Curated1
Sequence conflicti70E → K in AAD27732 (PubMed:10810093).Curated1
Sequence conflicti92S → N in AAD27732 (PubMed:10810093).Curated1
Sequence conflicti146E → K in CAB55913 (PubMed:11230166).Curated1
Sequence conflicti240L → H in CAB55913 (PubMed:11230166).Curated1
Sequence conflicti241N → I in AAD27732 (PubMed:10810093).Curated1
Sequence conflicti279N → H in AAD27732 (PubMed:10810093).Curated1
Sequence conflicti299I → M in AAD27732 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048127124P → T. Corresponds to variant dbSNP:rs6121183Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF132957 mRNA Translation: AAD27732.1
AL117419 mRNA Translation: CAB55913.1
AL121895 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW76141.1
CH471077 Genomic DNA Translation: EAW76142.1
CH471077 Genomic DNA Translation: EAW76143.1
BC001751 mRNA Translation: AAH01751.1
BC019311 mRNA Translation: AAH19311.1
AF113672 mRNA Translation: AAF29578.1 Different initiation.
CCDSiCCDS13273.1
PIRiT17223
RefSeqiNP_001258803.1, NM_001271874.1
NP_056326.2, NM_015511.4
XP_006723833.1, XM_006723770.3
XP_011527064.1, XM_011528762.2
XP_011527065.1, XM_011528763.2
UniGeneiHs.11314
Hs.744306

Genome annotation databases

EnsembliENST00000320849; ENSP00000313674; ENSG00000131043
ENST00000373932; ENSP00000363043; ENSG00000131043
GeneIDi25980
KEGGihsa:25980
UCSCiuc002xfc.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAAR2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y312
Secondary accession number(s): E1P5S7
, Q9H4F9, Q9P1P3, Q9UFK9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: October 19, 2002
Last modified: May 23, 2018
This is version 135 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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

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