Q96EH3 (MASU1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mitochondrial assembly of ribosomal large subunit protein 1

Gene names

Name:	MALSU1
Synonyms:	C7orf30

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

General annotation (Comments)

Function	May function as a ribosomal silencing factor. Addition to isolated mitochondrial ribosomal subunits partially inhibits translation. Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits and the formation of functional ribosomes, thus repressing translation. May also participate in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome. Ref.8 Ref.10
Subunit structure	Associates with the mitochondrial ribosome large subunit (39S). Interacts with MRPL12 and MRPL14. Ref.8 Ref.9 Ref.10
Subcellular location	Mitochondrion matrix. Note: Colocalizes with MRPL12 (Ref.9) and/or MRPL14 (Ref.10). Ref.6 Ref.8 Ref.9 Ref.10
Sequence similarities	Belongs to the Iojap/RsfS family.

Ontologies

Keywords
Cellular component	Mitochondrion
Molecular function	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of mitochondrial translation Inferred from direct assay Ref.10. Source: UniProtKB ribosomal large subunit biogenesis Inferred from mutant phenotype Ref.8. Source: UniProtKB
Cellular_component	mitochondrial matrix Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from direct assay Ref.6Ref.8. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 234	234	Mitochondrial assembly of ribosomal large subunit protein 1 HAMAP-Rule MF_01477		PRO_0000228108

Sequences

	Sequence		Length	Mass (Da)
	Q96EH3 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: D0B1CD0C9562FF2A	FASTA	234	26,170
	10 20 30 40 50 60 MGPGGRVARL LAPLMWRRAV SSVAGSAVGA EPGLRLLAVQ RLPVGAAFCR ACQTPNFVRG 70 80 90 100 110 120 LHSEPGLEER AEGTVNEGRP ESDAADHTGP KFDIDMMVSL LRQENARDIC VIQVPPEMRY 130 140 150 160 170 180 TDYFVIVSGT STRHLHAMAF YVVKMYKHLK CKRDPHVKIE GKDTDDWLCV DFGSMVIHLM 190 200 210 220 230 LPETREIYEL EKLWTLRSYD DQLAQIAPET VPEDFILGIE DDTSSVTPVE LKCE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Cerebellum and Tongue.
[2]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton 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 (JUL-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: Eye.
[6]	"Alterations of the mitochondrial proteome caused by the absence of mitochondrial DNA: A proteomic view." Chevallet M., Lescuyer P., Diemer H., van Dorsselaer A., Leize-Wagner E., Rabilloud T. Electrophoresis 27:1574-1583(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[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].
[8]	"C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome." Rorbach J., Gammage P.A., Minczuk M. Nucleic Acids Res. 40:4097-4109(2012) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, FUNCTION, ASSOCIATION WITH MITOCHONDRIAL RIBOSOME LARGE SUBUNIT.
[9]	"C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation." Wanschers B.F., Szklarczyk R., Pajak A., van den Brand M.A., Gloerich J., Rodenburg R.J., Lightowlers R.N., Nijtmans L.G., Huynen M.A. Nucleic Acids Res. 40:4040-4051(2012) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH MRPL12.
[10]	"RsfA (YbeB) proteins are conserved ribosomal silencing factors." Hauser R., Pech M., Kijek J., Yamamoto H., Titz B., Naeve F., Tovchigrechko A., Yamamoto K., Szaflarski W., Takeuchi N., Stellberger T., Diefenbacher M.E., Nierhaus K.H., Uetz P. PLoS Genet. 8:E1002815-E1002815(2012) [PubMed] [Europe PMC] [Abstract] Cited for: POSSIBLE FUNCTION IN RIBOSOMAL SILENCING, SUBCELLULAR LOCATION, INTERACTION WITH MRPL14.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK316559 mRNA. Translation: BAG38148.1. AK127742 mRNA. Translation: BAG54562.1. AC005082 Genomic DNA. No translation available. CH236948 Genomic DNA. Translation: EAL24258.1. CH471073 Genomic DNA. Translation: EAW93785.1. BC012331 mRNA. Translation: AAH12331.1.
IPI	IPI00061492.
RefSeq	NP_612455.1. NM_138446.1.
UniGene	Hs.87385.
3D structure databases
ProteinModelPortal	Q96EH3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96EH3. 1 interaction.
STRING	9606.ENSP00000419370.
PTM databases
PhosphoSite	Q96EH3.
Polymorphism databases
DMDM	74731563.
Proteomic databases
PaxDb	Q96EH3.
PRIDE	Q96EH3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000466681; ENSP00000419370; ENSG00000156928.
GeneID	115416.
KEGG	hsa:115416.
UCSC	uc003swd.1. human.
Organism-specific databases
CTD	115416.
GeneCards	GC07P023338.
H-InvDB	HIX0201159.
HGNC	HGNC:21721. MALSU1.
HPA	HPA020487.
MIM	614624. gene.
neXtProt	NX_Q96EH3.
PharmGKB	PA134866345.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0799.
HOGENOM	HOG000252940.
HOVERGEN	HBG081123.
InParanoid	Q96EH3.
OMA	ADHTGPK.
OrthoDB	EOG4C87TB.
PhylomeDB	Q96EH3.
Gene expression databases
ArrayExpress	Q96EH3.
Bgee	Q96EH3.
CleanEx	HS_C7orf30.
Genevestigator	Q96EH3.
GermOnline	ENSG00000156928. Homo sapiens.
Family and domain databases
HAMAP	MF_01477. Iojap_RsfS.
InterPro	IPR025656. Oligomer_dom. IPR004394. Ribosome-assoc_Iojap-like. [Graphical view]
PANTHER	PTHR21043. PTHR21043. 1 hit.
Pfam	PF02410. Oligomerisation. 1 hit. [Graphical view]
TIGRFAMs	TIGR00090. iojap_ybeB. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	115416.
NextBio	79594.
SOURCE	Search...

Entry information

Entry name

MASU1_HUMAN

Accession

Primary (citable) accession number: Q96EH3
Secondary accession number(s): A4D154

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 21, 2006
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 78 of the entry and version 1 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.