Q9Y312 (AAR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein AAR2 homolog

Alternative name(s):
AAR2 splicing factor homolog

Gene names

Name:	AAR2
Synonyms:	C20orf4
ORF Names:	CGI-23, PRO0225

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	384 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Sequence similarities	Belongs to the AAR2 family.
Sequence caution	The sequence AAF29578.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 384	384	Protein AAR2 homolog		PRO_0000209706
Natural variations
	Natural variant	124	1	P → T. Corresponds to variant rs6121183 [ dbSNP | Ensembl ].		VAR_048127
Experimental info
	Sequence conflict	45	1	F → L in CAB55913. Ref.2
	Sequence conflict	70	1	E → K in AAD27732. Ref.1
	Sequence conflict	92	1	S → N in AAD27732. Ref.1
	Sequence conflict	146	1	E → K in CAB55913. Ref.2
	Sequence conflict	240	1	L → H in CAB55913. Ref.2
	Sequence conflict	241	1	N → I in AAD27732. Ref.1
	Sequence conflict	279	1	N → H in AAD27732. Ref.1
	Sequence conflict	299	1	I → M in AAD27732. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9Y312 [UniParc]. Last modified October 19, 2002. Version 2. Checksum: 01194E1DEC644F4D	FASTA	384	43,472
	10 20 30 40 50 60 MAAVQMDPEL AKRLFFEGAT VVILNMPKGT EFGIDYNSWE VGPKFRGVKM IPPGIHFLHY 70 80 90 100 110 120 SSVDKANPKE VGPRMGFFLS LHQRGLTVLR WSTLREEVDL SPAPESEVEA MRANLQELDQ 130 140 150 160 170 180 FLGPYPYATL KKWISLTNFI SEATVEKLQP ENRQICAFSD VLPVLSMKHT KDRVGQNLPR 190 200 210 220 230 240 CGIECKSYQE GLARLPEMKP RAGTEIRFSE LPTQMFPEGA TPAEITKHSM DLSYALETVL 250 260 270 280 290 300 NKQFPSSPQD VLGELQFAFV CFLLGNVYEA FEHWKRLLNL LCRSEAAMMK HHTLYINLIS 310 320 330 340 350 360 ILYHQLGEIP ADFFVDIVSQ DNFLTSTLQV FFSSACSIAV DATLRKKAEK FQAHLTKKFR 370 380 WDFAAEPEDC APVVVELPEG IEMG

References

[1]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[3]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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 and Skin.
[6]	"Functional prediction of the coding sequences of 32 new genes deduced by analysis of cDNA clones from human fetal liver." Zhang C., Yu Y., Zhang S., Ouyang S., Luo L., Wei H., Zhou G., Zhou W., Bi J., Zhang Y., Liu M., He F. Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 228-384. Tissue: Fetal liver.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF132957 mRNA. Translation: AAD27732.1. AL117419 mRNA. Translation: CAB55913.1. AL121895 Genomic DNA. Translation: CAC09921.1. 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.
IPI	IPI00166013.
PIR	T17223.
RefSeq	NP_001258803.1. NM_001271874.1. NP_056326.2. NM_015511.4.
UniGene	Hs.11314.
3D structure databases
ProteinModelPortal	Q9Y312.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y312. 5 interactions.
MINT	MINT-1454200.
STRING	9606.ENSP00000313674.
PTM databases
PhosphoSite	Q9Y312.
Polymorphism databases
DMDM	24211603.
Proteomic databases
PaxDb	Q9Y312.
PRIDE	Q9Y312.
Protocols and materials databases
DNASU	25980.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000320849; ENSP00000313674; ENSG00000131043. ENST00000373932; ENSP00000363043; ENSG00000131043.
GeneID	25980.
KEGG	hsa:25980.
UCSC	uc002xfc.2. human.
Organism-specific databases
CTD	25980.
GeneCards	GC20P034825.
H-InvDB	HIX0203050.
HGNC	HGNC:15886. AAR2.
HPA	CAB034220. HPA048645.
neXtProt	NX_Q9Y312.
PharmGKB	PA25753.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG319701.
HOGENOM	HOG000225103.
HOVERGEN	HBG051148.
KO	K13205.
OMA	FFSSACS.
PhylomeDB	Q9Y312.
Gene expression databases
ArrayExpress	Q9Y312.
Bgee	Q9Y312.
CleanEx	HS_C20orf4.
Genevestigator	Q9Y312.
GermOnline	ENSG00000131043. Homo sapiens.
Family and domain databases
InterPro	IPR007946. AAR2. [Graphical view]
PANTHER	PTHR12689. PTHR12689. 1 hit.
Pfam	PF05282. AAR2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	25980.
NextBio	47638.

Entry information

Entry name

AAR2_HUMAN

Accession

Primary (citable) accession number: Q9Y312
Secondary accession number(s): E1P5S7 , Q9H4F9, Q9P1P3, Q9UFK9

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 19, 2002
Last sequence update:	October 19, 2002
Last modified:	May 1, 2013
This is version 91 of the entry and version 2 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.