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Q96EH3 (MASU1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mitochondrial assembly of ribosomal large subunit protein 1
Gene names
Name:MALSU1
Synonyms:C7orf30
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length234 AA.
Sequence statusComplete.
Protein existenceEvidence 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 componentMitochondrion
   Molecular functionRepressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processnegative 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_componentmitochondrial 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 234234Mitochondrial assembly of ribosomal large subunit protein 1 HAMAP-Rule MF_01477
PRO_0000228108

Sequences

Sequence LengthMass (Da)Tools
Q96EH3 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: D0B1CD0C9562FF2A

FASTA23426,170
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

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.
RefSeqNP_612455.1. NM_138446.1.
UniGeneHs.87385.

3D structure databases

ProteinModelPortalQ96EH3.
SMRQ96EH3. Positions 94-197.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125433. 4 interactions.
IntActQ96EH3. 2 interactions.
MINTMINT-8051854.
STRING9606.ENSP00000419370.

PTM databases

PhosphoSiteQ96EH3.

Polymorphism databases

DMDM74731563.

Proteomic databases

PaxDbQ96EH3.
PRIDEQ96EH3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000466681; ENSP00000419370; ENSG00000156928.
GeneID115416.
KEGGhsa:115416.
UCSCuc003swd.1. human.

Organism-specific databases

CTD115416.
GeneCardsGC07P023338.
H-InvDBHIX0201159.
HGNCHGNC:21721. MALSU1.
HPAHPA020487.
HPA052210.
MIM614624. gene.
neXtProtNX_Q96EH3.
PharmGKBPA134866345.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0799.
HOGENOMHOG000252940.
HOVERGENHBG081123.
InParanoidQ96EH3.
OMADHTGPKF.
OrthoDBEOG70W3FR.
PhylomeDBQ96EH3.
TreeFamTF326763.

Gene expression databases

BgeeQ96EH3.
CleanExHS_C7orf30.
GenevestigatorQ96EH3.

Family and domain databases

HAMAPMF_01477. Iojap_RsfS.
InterProIPR004394. Iojap/RsfS.
IPR025656. Oligomer_dom.
[Graphical view]
PANTHERPTHR21043. PTHR21043. 1 hit.
PfamPF02410. Oligomerisation. 1 hit.
[Graphical view]
TIGRFAMsTIGR00090. iojap_ybeB. 1 hit.
ProtoNetSearch...

Other

GeneWikiC7orf30.
GenomeRNAi115416.
NextBio79594.
PROQ96EH3.
SOURCESearch...

Entry information

Entry nameMASU1_HUMAN
AccessionPrimary (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: March 19, 2014
This is version 86 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM