AAR2_HUMAN
ID AAR2_HUMAN Reviewed; 384 AA.
AC Q9Y312; E1P5S7; Q9H4F9; Q9P1P3; Q9UFK9;
DT 19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 19-OCT-2002, sequence version 2.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Protein AAR2 homolog;
DE AltName: Full=AAR2 splicing factor homolog;
GN Name=AAR2; Synonyms=C20orf4; ORFNames=CGI-23, PRO0225;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=10810093; DOI=10.1101/gr.10.5.703;
RA Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.;
RT "Identification of novel human genes evolutionarily conserved in
RT Caenorhabditis elegans by comparative proteomics.";
RL Genome Res. 10:703-713(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 228-384.
RC TISSUE=Fetal liver;
RA Zhang C., Yu Y., Zhang S., Ouyang S., Luo L., Wei H., Zhou G., Zhou W.,
RA Bi J., Zhang Y., Liu M., He F.;
RT "Functional prediction of the coding sequences of 32 new genes deduced by
RT analysis of cDNA clones from human fetal liver.";
RL Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [9]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22223895; DOI=10.1074/mcp.m111.015131;
RA Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T.,
RA Giglione C.;
RT "Comparative large-scale characterisation of plant vs. mammal proteins
RT reveals similar and idiosyncratic N-alpha acetylation features.";
RL Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
RN [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [11]
RP CRYSTALLIZATION, AND INTERACTION WITH PRPF8.
RX PubMed=26527271; DOI=10.1107/s2053230x15019202;
RA Santos K., Preussner M., Heroven A.C., Weber G.;
RT "Crystallization and biochemical characterization of the human spliceosomal
RT Aar2-Prp8(RNaseH) complex.";
RL Acta Crystallogr. F 71:1421-1428(2015).
CC -!- FUNCTION: Component of the U5 snRNP complex that is required for
CC spliceosome assembly and for pre-mRNA splicing.
CC {ECO:0000250|UniProtKB:P32357}.
CC -!- SUBUNIT: Interacts with PRPF8 (via RNase H homology domain)
CC (PubMed:26527271). Component of a U5 snRNP complex that contains PRPF8
CC (By similarity). {ECO:0000250|UniProtKB:P32357,
CC ECO:0000269|PubMed:26527271}.
CC -!- SIMILARITY: Belongs to the AAR2 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF29578.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF132957; AAD27732.1; -; mRNA.
DR EMBL; AL117419; CAB55913.1; -; mRNA.
DR EMBL; AL121895; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW76141.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW76142.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW76143.1; -; Genomic_DNA.
DR EMBL; BC001751; AAH01751.1; -; mRNA.
DR EMBL; BC019311; AAH19311.1; -; mRNA.
DR EMBL; AF113672; AAF29578.1; ALT_INIT; mRNA.
DR CCDS; CCDS13273.1; -.
DR PIR; T17223; T17223.
DR RefSeq; NP_001258803.1; NM_001271874.1.
DR RefSeq; NP_056326.2; NM_015511.4.
DR RefSeq; XP_006723833.1; XM_006723770.3.
DR RefSeq; XP_011527064.1; XM_011528762.2.
DR RefSeq; XP_011527065.1; XM_011528763.2.
DR AlphaFoldDB; Q9Y312; -.
DR SMR; Q9Y312; -.
DR BioGRID; 117464; 666.
DR IntAct; Q9Y312; 32.
DR MINT; Q9Y312; -.
DR STRING; 9606.ENSP00000363043; -.
DR GlyGen; Q9Y312; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y312; -.
DR MetOSite; Q9Y312; -.
DR PhosphoSitePlus; Q9Y312; -.
DR BioMuta; AAR2; -.
DR DMDM; 24211603; -.
DR EPD; Q9Y312; -.
DR jPOST; Q9Y312; -.
DR MassIVE; Q9Y312; -.
DR MaxQB; Q9Y312; -.
DR PaxDb; Q9Y312; -.
DR PeptideAtlas; Q9Y312; -.
DR PRIDE; Q9Y312; -.
DR ProteomicsDB; 85957; -.
DR Antibodypedia; 26501; 90 antibodies from 20 providers.
DR DNASU; 25980; -.
DR Ensembl; ENST00000320849.9; ENSP00000313674.4; ENSG00000131043.13.
DR Ensembl; ENST00000373932.3; ENSP00000363043.3; ENSG00000131043.13.
DR Ensembl; ENST00000679667.1; ENSP00000506354.1; ENSG00000131043.13.
DR Ensembl; ENST00000680247.1; ENSP00000505295.1; ENSG00000131043.13.
DR Ensembl; ENST00000680639.1; ENSP00000505405.1; ENSG00000131043.13.
DR Ensembl; ENST00000680811.1; ENSP00000506185.1; ENSG00000131043.13.
DR Ensembl; ENST00000680933.1; ENSP00000505061.1; ENSG00000131043.13.
DR GeneID; 25980; -.
DR KEGG; hsa:25980; -.
DR MANE-Select; ENST00000320849.9; ENSP00000313674.4; NM_001271874.2; NP_001258803.1.
DR UCSC; uc002xfc.4; human.
DR CTD; 25980; -.
DR DisGeNET; 25980; -.
DR GeneCards; AAR2; -.
DR HGNC; HGNC:15886; AAR2.
DR HPA; ENSG00000131043; Low tissue specificity.
DR MIM; 617365; gene.
DR neXtProt; NX_Q9Y312; -.
DR OpenTargets; ENSG00000131043; -.
DR PharmGKB; PA25753; -.
DR VEuPathDB; HostDB:ENSG00000131043; -.
DR eggNOG; KOG3937; Eukaryota.
DR GeneTree; ENSGT00390000007796; -.
DR HOGENOM; CLU_036039_0_0_1; -.
DR InParanoid; Q9Y312; -.
DR OMA; TYMKYSE; -.
DR OrthoDB; 1156337at2759; -.
DR PhylomeDB; Q9Y312; -.
DR TreeFam; TF315089; -.
DR PathwayCommons; Q9Y312; -.
DR SignaLink; Q9Y312; -.
DR BioGRID-ORCS; 25980; 29 hits in 1088 CRISPR screens.
DR ChiTaRS; AAR2; human.
DR GenomeRNAi; 25980; -.
DR Pharos; Q9Y312; Tbio.
DR PRO; PR:Q9Y312; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9Y312; protein.
DR Bgee; ENSG00000131043; Expressed in lower esophagus muscularis layer and 186 other tissues.
DR ExpressionAtlas; Q9Y312; baseline and differential.
DR Genevisible; Q9Y312; HS.
DR GO; GO:0005681; C:spliceosomal complex; IEA:UniProtKB-KW.
DR GO; GO:0005682; C:U5 snRNP; ISS:FlyBase.
DR GO; GO:0000244; P:spliceosomal tri-snRNP complex assembly; ISS:FlyBase.
DR CDD; cd13778; Aar2_C; 1.
DR CDD; cd13777; Aar2_N; 1.
DR Gene3D; 1.25.40.550; -; 1.
DR Gene3D; 2.60.34.20; -; 1.
DR InterPro; IPR007946; AAR2.
DR InterPro; IPR033648; AAR2_C.
DR InterPro; IPR038514; AAR2_C_sf.
DR InterPro; IPR033647; Aar2_N.
DR InterPro; IPR038516; AAR2_N_sf.
DR PANTHER; PTHR12689; PTHR12689; 1.
DR Pfam; PF05282; AAR2; 1.
PE 1: Evidence at protein level;
KW Acetylation; mRNA processing; mRNA splicing; Reference proteome;
KW Spliceosome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:19413330,
FT ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378"
FT CHAIN 2..384
FT /note="Protein AAR2 homolog"
FT /id="PRO_0000209706"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:19413330,
FT ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378"
FT VARIANT 124
FT /note="P -> T (in dbSNP:rs6121183)"
FT /id="VAR_048127"
FT CONFLICT 45
FT /note="F -> L (in Ref. 2; CAB55913)"
FT /evidence="ECO:0000305"
FT CONFLICT 70
FT /note="E -> K (in Ref. 1; AAD27732)"
FT /evidence="ECO:0000305"
FT CONFLICT 92
FT /note="S -> N (in Ref. 1; AAD27732)"
FT /evidence="ECO:0000305"
FT CONFLICT 146
FT /note="E -> K (in Ref. 2; CAB55913)"
FT /evidence="ECO:0000305"
FT CONFLICT 240
FT /note="L -> H (in Ref. 2; CAB55913)"
FT /evidence="ECO:0000305"
FT CONFLICT 241
FT /note="N -> I (in Ref. 1; AAD27732)"
FT /evidence="ECO:0000305"
FT CONFLICT 279
FT /note="N -> H (in Ref. 1; AAD27732)"
FT /evidence="ECO:0000305"
FT CONFLICT 299
FT /note="I -> M (in Ref. 1; AAD27732)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 384 AA; 43472 MW; 01194E1DEC644F4D CRC64;
MAAVQMDPEL AKRLFFEGAT VVILNMPKGT EFGIDYNSWE VGPKFRGVKM IPPGIHFLHY
SSVDKANPKE VGPRMGFFLS LHQRGLTVLR WSTLREEVDL SPAPESEVEA MRANLQELDQ
FLGPYPYATL KKWISLTNFI SEATVEKLQP ENRQICAFSD VLPVLSMKHT KDRVGQNLPR
CGIECKSYQE GLARLPEMKP RAGTEIRFSE LPTQMFPEGA TPAEITKHSM DLSYALETVL
NKQFPSSPQD VLGELQFAFV CFLLGNVYEA FEHWKRLLNL LCRSEAAMMK HHTLYINLIS
ILYHQLGEIP ADFFVDIVSQ DNFLTSTLQV FFSSACSIAV DATLRKKAEK FQAHLTKKFR
WDFAAEPEDC APVVVELPEG IEMG
