UniProtKB - Q96EH3 (MASU1_HUMAN)

BLAST

>sp|Q96EH3|MASU1_HUMAN Mitochondrial assembly of ribosomal large subunit protein 1 OS=Homo sapiens OX=9606 GN=MALSU1 PE=1 SV=1
MGPGGRVARLLAPLMWRRAVSSVAGSAVGAEPGLRLLAVQRLPVGAAFCRACQTPNFVRG
LHSEPGLEERAEGTVNEGRPESDAADHTGPKFDIDMMVSLLRQENARDICVIQVPPEMRY
TDYFVIVSGTSTRHLHAMAFYVVKMYKHLKCKRDPHVKIEGKDTDDWLCVDFGSMVIHLM
LPETREIYELEKLWTLRSYDDQLAQIAPETVPEDFILGIEDDTSSVTPVELKCE

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History
Entry version 125 (07 Nov 2018)
Sequence version 1 (01 Dec 2001)
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Protein

Mitochondrial assembly of ribosomal large subunit protein 1

Gene

MALSU1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Required for normal mitochondrial ribosome function and mitochondrial translation (PubMed:22238375, PubMed:23171548). May play a role in ribosome biogenesis by preventing premature association of the 28S and 39S ribosomal subunits (Probable). Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits (Probable). Addition to isolated mitochondrial ribosomal subunits partially inhibits translation, probably by interfering with the association of the 28S and 39S ribosomal subunits and the formation of functional ribosomes (Probable). May also participate in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome (PubMed:22238376, PubMed:23171548). May function as a ribosomal silencing factor (Probable).2 Publications3 Publications

GO - Molecular functionⁱ

ribosomal large subunit binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

negative regulation of mitochondrial translation
Source: UniProtKB
Inferred from direct assayⁱ
- 22829778
negative regulation of ribosome biogenesis
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
negative regulation of translation
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
ribosomal large subunit biogenesis
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 22238376

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Ribosome biogenesis

Biological process

Ribosome biogenesis

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Mitochondrial assembly of ribosomal large subunit protein 1
Gene namesⁱ	Name:MALSU1 Synonyms:C7orf30
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 7

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000156928.4
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:21721 MALSU1
MIMⁱ	614624 gene
neXtProtⁱ	NX_Q96EH3

Keywords - Cellular componentⁱ

Mitochondrion

Pathology & Biotechⁱ

Organism-specific databases

Open Targets More...OpenTargetsⁱ	ENSG00000156928
PharmGKBⁱ	PA134866345

Polymorphism and mutation databases

BioMutaⁱ	MALSU1
DMDMⁱ	74731563

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000228108	1 – 234	Mitochondrial assembly of ribosomal large subunit protein 1Add BLAST		234

Proteomic databases

EPDⁱ	Q96EH3
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96EH3
PaxDbⁱ	Q96EH3
PeptideAtlas More...PeptideAtlasⁱ	Q96EH3
PRIDEⁱ	Q96EH3
ProteomicsDBⁱ	76407

PTM databases

iPTMnetⁱ	Q96EH3
PhosphoSitePlusⁱ	Q96EH3

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000156928 Expressed in 211 organ(s), highest expression level in sperm
CleanExⁱ	HS_C7orf30
Genevisibleⁱ	Q96EH3 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA020487 HPA052210

HPAⁱ

HPA020487
HPA052210

Interactionⁱ

Subunit structureⁱ

Associates with the mitochondrial ribosome large subunit (39S) via interaction with MRPL12 and/or MRPL14 (PubMed:22238375, PubMed:23171548, PubMed:28892042). The interaction generates steric hindrance that is expected to prevent premature association of the 28S and 39S ribosomal subunits (PubMed:28892042). Intentified in a complex composed of MALSU1, MIEF1 upstream open reading frame protein and NDUFAB1; within the trimeric complex MIEF1 upstream open reading frame protein functions as a bridging scaffold that interacts with MALSU1 on one side, and with NDUFAB1 on the other side (PubMed:28892042). Interacts with MRPL12 and MRPL14 (PubMed:23171548, PubMed:22829778, PubMed:22238375).4 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
DCTD	P32321	5	EBI-2339737,EBI-739870

With

Entry

#Exp.

IntAct

Notes

DCTD

P32321

EBI-2339737,EBI-739870

Protein-protein interaction databases

BioGridⁱ	125433, 40 interactors
IntActⁱ	Q96EH3, 18 interactors
Molecular INTeraction database More...MINTⁱ	Q96EH3
STRINGⁱ	9606.ENSP00000419370

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	94 – 104	Combined sources	11
Beta strandⁱ	107 – 113	Combined sources	7
Beta strandⁱ	122 – 128	Combined sources	7
Helixⁱ	132 – 149	Combined sources	18
Beta strandⁱ	152 – 154	Combined sources	3
Beta strandⁱ	168 – 171	Combined sources	4
Beta strandⁱ	173 – 180	Combined sources	8
Helixⁱ	182 – 188	Combined sources	7
Helixⁱ	190 – 193	Combined sources	4
Beta strandⁱ	197 – 199	Combined sources	3

Show more details

3D structure databases

ProteinModelPortalⁱ	Q96EH3
SMRⁱ	Q96EH3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the Iojap/RsfS family.Curated

Phylogenomic databases

eggNOGⁱ	KOG3212 Eukaryota COG0799 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000015035
HOGENOMⁱ	HOG000252940
HOVERGENⁱ	HBG081123
InParanoidⁱ	Q96EH3
OMAⁱ	IVKMYKH
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0TZ9
PhylomeDBⁱ	Q96EH3
TreeFamⁱ	TF326763

Family and domain databases

HAMAPⁱ	MF_01477 Iojap_RsfS, 1 hit
InterProⁱ	View protein in InterPro IPR004394 Iojap/RsfS/C7orf30
PANTHERⁱ	PTHR21043 PTHR21043, 1 hit
TIGRFAMsⁱ	TIGR00090 rsfS_iojap_ybeB, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q96EH3-1 [UniParc]FASTA Add 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

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS5381.1
NCBI Reference Sequences More...RefSeqⁱ	NP_612455.1, NM_138446.1
UniGeneⁱ	Hs.87385

Genome annotation databases

Ensemblⁱ	ENST00000466681; ENSP00000419370; ENSG00000156928
GeneIDⁱ	115416
KEGGⁱ	hsa:115416
UCSC genome browser More...UCSCⁱ	uc003swd.2 human

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q96EH3	Chromosome 7 open reading frame 30		PANTR		235	UniRef90_Q96EH3
Uncharacterized protein		PANPA		235
Uncharacterized protein		MACMU		235
Uncharacterized protein		MACFA		235
Uncharacterized protein		COLAP		235
+17

Protein	Similar proteins		Species	Score	Length	Source
Q96EH3	Uncharacterized protein		MACMU		235	UniRef50_Q96EH3
Uncharacterized protein		MACFA		235
Uncharacterized protein		MACNE		235
Uncharacterized protein		CERAT		235
Mitochondrial assembly of ribosomal large subunit 1		GORGO		235
+86

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

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	5OOL	electron microscopy	3.06	u	1-234	[»]
	5OOM	electron microscopy	3.03	u	1-234	[»]
ProteinModelPortalⁱ	Q96EH3
SMRⁱ	Q96EH3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	125433, 40 interactors
IntActⁱ	Q96EH3, 18 interactors
MINTⁱ	Q96EH3
STRINGⁱ	9606.ENSP00000419370

PTM databases

iPTMnetⁱ	Q96EH3
PhosphoSitePlusⁱ	Q96EH3

Polymorphism and mutation databases

BioMutaⁱ	MALSU1
DMDMⁱ	74731563

Proteomic databases

EPDⁱ	Q96EH3
MaxQBⁱ	Q96EH3
PaxDbⁱ	Q96EH3
PeptideAtlasⁱ	Q96EH3
PRIDEⁱ	Q96EH3
ProteomicsDBⁱ	76407

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000466681; ENSP00000419370; ENSG00000156928
GeneIDⁱ	115416
KEGGⁱ	hsa:115416
UCSCⁱ	uc003swd.2 human

Organism-specific databases

CTDⁱ	115416
EuPathDBⁱ	HostDB:ENSG00000156928.4
GeneCardsⁱ	MALSU1
H-InvDBⁱ	HIX0201159
HGNCⁱ	HGNC:21721 MALSU1
HPAⁱ	HPA020487 HPA052210
MIMⁱ	614624 gene
neXtProtⁱ	NX_Q96EH3
OpenTargetsⁱ	ENSG00000156928
PharmGKBⁱ	PA134866345
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3212 Eukaryota COG0799 LUCA
GeneTreeⁱ	ENSGT00390000015035
HOGENOMⁱ	HOG000252940
HOVERGENⁱ	HBG081123
InParanoidⁱ	Q96EH3
OMAⁱ	IVKMYKH
OrthoDBⁱ	EOG091G0TZ9
PhylomeDBⁱ	Q96EH3
TreeFamⁱ	TF326763

Miscellaneous databases

ChiTaRSⁱ	MALSU1 human
GeneWikiⁱ	C7orf30
GenomeRNAiⁱ	115416
Protein Ontology More...PROⁱ	PR:Q96EH3
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000156928 Expressed in 211 organ(s), highest expression level in sperm
CleanExⁱ	HS_C7orf30
Genevisibleⁱ	Q96EH3 HS

Family and domain databases

HAMAPⁱ	MF_01477 Iojap_RsfS, 1 hit
InterProⁱ	View protein in InterPro IPR004394 Iojap/RsfS/C7orf30
PANTHERⁱ	PTHR21043 PTHR21043, 1 hit
TIGRFAMsⁱ	TIGR00090 rsfS_iojap_ybeB, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	MASU1_HUMAN
Accessionⁱ	Q96EH3Primary (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 7, 2018
	This is version 125 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

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

UniProtKB

UniParc

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UniRef

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Supporting data

UniProtKB - Q96EH3 (MASU1_HUMAN)

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Mitochondrial assembly of ribosomal large subunit protein 1

MALSU1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Mitochondrion

Cytosol

Mitochondrion

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

UniProt is an ELIXIR core data resource

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ