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Q96EH3

- MASU1_HUMAN

UniProt

Q96EH3 - MASU1_HUMAN

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Protein

Mitochondrial assembly of ribosomal large subunit protein 1

Gene

MALSU1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Biological processi

  1. negative regulation of mitochondrial translation Source: UniProtKB
  2. ribosomal large subunit biogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial assembly of ribosomal large subunit protein 1
Gene namesi
Name:MALSU1
Synonyms:C7orf30
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:21721. MALSU1.

Subcellular locationi

Mitochondrion matrix 4 Publications
Note: Colocalizes with MRPL12 (PubMed:22238375) and/or MRPL14 (PubMed:22829778).2 Publications

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134866345.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 234234Mitochondrial assembly of ribosomal large subunit protein 1PRO_0000228108Add
BLAST

Proteomic databases

MaxQBiQ96EH3.
PaxDbiQ96EH3.
PRIDEiQ96EH3.

PTM databases

PhosphoSiteiQ96EH3.

Expressioni

Gene expression databases

BgeeiQ96EH3.
CleanExiHS_C7orf30.
GenevestigatoriQ96EH3.

Organism-specific databases

HPAiHPA020487.
HPA052210.

Interactioni

Subunit structurei

Associates with the mitochondrial ribosome large subunit (39S). Interacts with MRPL12 and MRPL14.2 Publications

Protein-protein interaction databases

BioGridi125433. 15 interactions.
IntActiQ96EH3. 2 interactions.
MINTiMINT-8051854.
STRINGi9606.ENSP00000419370.

Structurei

3D structure databases

ProteinModelPortaliQ96EH3.
SMRiQ96EH3. Positions 96-194.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Iojap/RsfS family.Curated

Phylogenomic databases

eggNOGiCOG0799.
GeneTreeiENSGT00390000015035.
HOGENOMiHOG000252940.
HOVERGENiHBG081123.
InParanoidiQ96EH3.
OMAiDHTGPKF.
OrthoDBiEOG70W3FR.
PhylomeDBiQ96EH3.
TreeFamiTF326763.

Family and domain databases

HAMAPiMF_01477. Iojap_RsfS.
InterProiIPR004394. Iojap/RsfS.
IPR025656. Oligomer_dom.
[Graphical view]
PANTHERiPTHR21043. PTHR21043. 1 hit.
PfamiPF02410. Oligomerisation. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00090. iojap_ybeB. 1 hit.

Sequencei

Sequence statusi: Complete.

Q96EH3-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGPGGRVARL LAPLMWRRAV SSVAGSAVGA EPGLRLLAVQ RLPVGAAFCR
60 70 80 90 100
ACQTPNFVRG LHSEPGLEER AEGTVNEGRP ESDAADHTGP KFDIDMMVSL
110 120 130 140 150
LRQENARDIC VIQVPPEMRY TDYFVIVSGT STRHLHAMAF YVVKMYKHLK
160 170 180 190 200
CKRDPHVKIE GKDTDDWLCV DFGSMVIHLM LPETREIYEL EKLWTLRSYD
210 220 230
DQLAQIAPET VPEDFILGIE DDTSSVTPVE LKCE
Length:234
Mass (Da):26,170
Last modified:December 1, 2001 - v1
Checksum:iD0B1CD0C9562FF2A
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS5381.1.
RefSeqiNP_612455.1. NM_138446.1.
UniGeneiHs.87385.

Genome annotation databases

EnsembliENST00000466681; ENSP00000419370; ENSG00000156928.
GeneIDi115416.
KEGGihsa:115416.
UCSCiuc003swd.1. human.

Polymorphism databases

DMDMi74731563.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS5381.1.
RefSeqi NP_612455.1. NM_138446.1.
UniGenei Hs.87385.

3D structure databases

ProteinModelPortali Q96EH3.
SMRi Q96EH3. Positions 96-194.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125433. 15 interactions.
IntActi Q96EH3. 2 interactions.
MINTi MINT-8051854.
STRINGi 9606.ENSP00000419370.

PTM databases

PhosphoSitei Q96EH3.

Polymorphism databases

DMDMi 74731563.

Proteomic databases

MaxQBi Q96EH3.
PaxDbi Q96EH3.
PRIDEi Q96EH3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000466681 ; ENSP00000419370 ; ENSG00000156928 .
GeneIDi 115416.
KEGGi hsa:115416.
UCSCi uc003swd.1. human.

Organism-specific databases

CTDi 115416.
GeneCardsi GC07P023338.
H-InvDB HIX0201159.
HGNCi HGNC:21721. MALSU1.
HPAi HPA020487.
HPA052210.
MIMi 614624. gene.
neXtProti NX_Q96EH3.
PharmGKBi PA134866345.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0799.
GeneTreei ENSGT00390000015035.
HOGENOMi HOG000252940.
HOVERGENi HBG081123.
InParanoidi Q96EH3.
OMAi DHTGPKF.
OrthoDBi EOG70W3FR.
PhylomeDBi Q96EH3.
TreeFami TF326763.

Miscellaneous databases

ChiTaRSi MALSU1. human.
GeneWikii C7orf30.
GenomeRNAii 115416.
NextBioi 79594.
PROi Q96EH3.
SOURCEi Search...

Gene expression databases

Bgeei Q96EH3.
CleanExi HS_C7orf30.
Genevestigatori Q96EH3.

Family and domain databases

HAMAPi MF_01477. Iojap_RsfS.
InterProi IPR004394. Iojap/RsfS.
IPR025656. Oligomer_dom.
[Graphical view ]
PANTHERi PTHR21043. PTHR21043. 1 hit.
Pfami PF02410. Oligomerisation. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR00090. iojap_ybeB. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. Cited for: POSSIBLE FUNCTION IN RIBOSOMAL SILENCING, SUBCELLULAR LOCATION, INTERACTION WITH MRPL14.

Entry informationi

Entry nameiMASU1_HUMAN
AccessioniPrimary (citable) accession number: Q96EH3
Secondary accession number(s): A4D154
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: December 1, 2001
Last modified: November 26, 2014
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3