Reviewed, UniProtKB/Swiss-Prot P82650 (RT22_HUMAN)

Names and origin

Protein names

Recommended name:
    28S ribosomal protein S22, mitochondrial
      Short name=S22mt
      Short name=MRP-S22

Gene names

Name:	MRPS22
Synonyms:	C3orf5, RPMS22
ORF Names:	GK002

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	360 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subunit structure	Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins.
Subcellular location	Mitochondrion.
Involvement in disease	Defects in MRPS22 are the cause of combined oxidative phosphorylation deficiency type 5 (COXPD5) [MIM:611719]. COXPD5 is an antenatal mitochondrial disease. Patients show edema, cardiomyopathy, tubulopathy, and hypotonia. Ref.7

Ontologies

Keywords
Cellular component	Mitochondrion
Disease	Disease mutation
Molecular function	Ribonucleoprotein Ribosomal protein
PTM	Acetylation
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	mitochondrial small ribosomal subunit Ref.4 Inferred from direct assay. Source: MGI
Molecular function	protein binding Inferred from physical interaction. Source: IntAct structural constituent of ribosome Ref.4 Inferred from direct assay. Source: MGI
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NFKBIL1	Q9UBC1	1	EBI-1050752,EBI-1043728

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 360	360	28S ribosomal protein S22, mitochondrial		PRO_0000087703
Amino acid modifications
	Modified residue	211	1	N6-acetyllysine Ref.6
	Modified residue	255	1	N6-acetyllysine Ref.6
	Modified residue	258	1	N6-acetyllysine Ref.6
Natural variations
	Natural variant	170	1	R → H in COXPD5. Ref.7		VAR_042733

Sequences

	Sequence		Length	Mass (Da)
	P82650-1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 2DB50257C222D706	FASTA	360	41,280
	10 20 30 40 50 60 MAPLGTTVLL WSLLRSSPGV ERVCFRARIQ PWHGGLLQPL PCSFEMGLPR RRFSSEAAES 70 80 90 100 110 120 GSPETKKPTF MDEEVQSILT KMTGLNLQKT FKPAIQELKP PTYKLMTQAQ LEEATRQAVE 130 140 150 160 170 180 AAKVRLKMPP VLEERVPIND VLAEDKILEG TETTKYVFTD ISYSIPHRER FIVVREPSGT 190 200 210 220 230 240 LRKASWEERD RMIQVYFPKE GRKILTPIIF KEENLRTMYS QDRHVDVLNL CFAQFEPDST 250 260 270 280 290 300 EYIKVHHKTY EDIDKRGKYD LLRSTRYFGG MVWYFVNNKK IDGLLIDQIQ RDLIDDATNL 310 320 330 340 350 360 VQLYHVLHPD GQSAQGAKDQ AAEGINLIKV FAKTEAQKGA YIELTLQTYQ EALSRHSAAS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome." Crisponi L., Deiana M., Loi A., Chiappe F., Uda M., Amati P., Bisceglia L., Zelante L., Nagaraja R., Porcu S., Ristaldi M.S., Marzella R., Rocchi M., Nicolino M., Lienhardt-Roussie A., Nivelon A., Verloes A., Schlessinger D. , Gasparini P., Bonneau D., Cao A., Pilia G. Nat. Genet. 27:159-166(2001) [PubMed: 11175783] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"A novel gene expressed in human liver cancer tissue." Li Y., Wu T., Xu S., Ren S., Chen Z., Han Z. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Liver cancer.
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Muscle.
[4]	"A proteomics approach to the identification of mammalian mitochondrial small subunit ribosomal proteins." Koc E.C., Burkhart W., Blackburn K., Moseley A., Koc H., Spremulli L.L. J. Biol. Chem. 275:32585-32591(2000) [PubMed: 10938081] [Abstract] Cited for: IDENTIFICATION.
[5]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[6]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-211; LYS-255 AND LYS-258, MASS SPECTROMETRY.
[7]	"Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation." Saada A., Shaag A., Arnon S., Dolfin T., Miller C., Fuchs-Telem D., Lombes A., Elpeleg O. J. Med. Genet. 44:784-786(2007) [PubMed: 17873122] [Abstract] Cited for: VARIANT COXPD5 HIS-170.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF321613 mRNA. Translation: AAK01406.1. AF226045 mRNA. Translation: AAF86945.1. BC009296 mRNA. Translation: AAH09296.1.
IPI	IPI00013146.
RefSeq	NP_064576.1.
UniGene	Hs.581614
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P82650. 2 interactions.
STRING	P82650.
Proteomic databases
PRIDE	P82650.
Genome annotation databases
Ensembl	ENST00000310776; ENSP00000310785; ENSG00000175110; Homo sapiens. [Genome view] ENST00000495075; ENSP00000418008; ENSG00000175110; Homo sapiens. [Genome view]
GeneID	56945.
KEGG	hsa:56945.
NMPDR	fig|9606.3.peg.23272.
UCSC	uc003etb.1. human.
Organism-specific databases
CTD	56945.
GeneCards	GC03P140545.
H-InvDB	HIX0019989.
HGNC	HGNC:14508. MRPS22.
HPA	HPA006083. HPA007830.
MIM	605810. gene. 611719. phenotype.
Orphanet	137908. Hypotonia with lactic acidemia and hyperammonemia.
PharmGKB	PA31010.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P82650.
HOVERGEN	P82650.
OMA	YIKVHHQ
OrthoDB	EOG986BZB
Gene expression databases
ArrayExpress	P82650.
Bgee	P82650.
CleanEx	HS_MRPS22.
Genevestigator	P82650.
GermOnline	ENSG00000175110. Homo sapiens.
Family and domain databases
InterPro	IPR019374. Ribosomal_S22_mit. [Graphical view]
Pfam	PF10245. MRP-S22. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	62529.
SOURCE	Search...

Entry information

Entry name

RT22_HUMAN

Accession

Primary (citable) accession number: P82650

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	October 1, 2000
Last modified:	November 24, 2009
This is version 68 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.