• Gene id: 10128

Gene Summary

• Gene Symbol: LRPPRC   Gene   UCSC   Ensembl
• Aliases: CLONE-23970, GP130, LRP130, LSFC
• Gene name: leucine rich pentatricopeptide repeat containing
• Alternate names: leucine-rich PPR motif-containing protein, mitochondrial, 130 kDa leucine-rich protein, LRP 130, leucine-rich PPR-motif containing, mitochondrial leucine-rich PPR motif-containing protein,
• Gene location: 2p21 (43995988: 43886223)     Exons: 10     NC_000002.12
• Gene summary(Entrez): This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulat
• OMIM: 607544

Protein Summary

• Protein general information: P42704  
  • Name: Leucine rich PPR motif containing protein, mitochondrial (130 kDa leucine rich protein) (LRP 130) (GP130)
  • Length: 1394  
  • Mass: 157905
  • Tissue specificity: Expressed ubiquitously. Expression is highest in heart, skeletal muscle, kidney and liver, intermediate in brain, non-mucosal colon, spleen and placenta, and lowest in small intestine, thymus, lung and peripheral blood leukocytes. {ECO
• Sequence:

  MAALLRSARWLLRAGAAPRLPLSLRLLPGGPGRLHAASYLPAARAGPVAGGLLSPARLYAIAAKEKDIQEESTFS
  SRKISNQFDWALMRLDLSVRRTGRIPKKLLQKVFNDTCRSGGLGGSHALLLLRSCGSLLPELKLEERTEFAHRIW
  DTLQKLGAVYDVSHYNALLKVYLQNEYKFSPTDFLAKMEEANIQPNRVTYQRLIASYCNVGDIEGASKILGFMKT
  KDLPVTEAVFSALVTGHARAGDMENAENILTVMRDAGIEPGPDTYLALLNAYAEKGDIDHVKQTLEKVEKSELHL
  MDRDLLQIIFSFSKAGYPQYVSEILEKVTCERRYIPDAMNLILLLVTEKLEDVALQILLACPVSKEDGPSVFGSF
  FLQHCVTMNTPVEKLTDYCKKLKEVQMHSFPLQFTLHCALLANKTDLAKALMKAVKEEGFPIRPHYFWPLLVGRR
  KEKNVQGIIEILKGMQELGVHPDQETYTDYVIPCFDSVNSARAILQENGCLSDSDMFSQAGLRSEAANGNLDFVL
  SFLKSNTLPISLQSIRSSLLLGFRRSMNINLWSEITELLYKDGRYCQEPRGPTEAVGYFLYNLIDSMSDSEVQAK
  EEHLRQYFHQLEKMNVKIPENIYRGIRNLLESYHVPELIKDAHLLVESKNLDFQKTVQLTSSELESTLETLKAEN
  QPIRDVLKQLILVLCSEENMQKALELKAKYESDMVTGGYAALINLCCRHDKVEDALNLKEEFDRLDSSAVLDTGK
  YVGLVRVLAKHGKLQDAINILKEMKEKDVLIKDTTALSFFHMLNGAALRGEIETVKQLHEAIVTLGLAEPSTNIS
  FPLVTVHLEKGDLSTALEVAIDCYEKYKVLPRIHDVLCKLVEKGETDLIQKAMDFVSQEQGEMVMLYDLFFAFLQ
  TGNYKEAKKIIETPGIRARSARLQWFCDRCVANNQVETLEKLVELTQKLFECDRDQMYYNLLKLYKINGDWQRAD
  AVWNKIQEENVIPREKTLRLLAEILREGNQEVPFDVPELWYEDEKHSLNSSSASTTEPDFQKDILIACRLNQKKG
  AYDIFLNAKEQNIVFNAETYSNLIKLLMSEDYFTQAMEVKAFAETHIKGFTLNDAANSRLIITQVRRDYLKEAVT
  TLKTVLDQQQTPSRLAVTRVIQALAMKGDVENIEVVQKMLNGLEDSIGLSKMVFINNIALAQIKNNNIDAAIENI
  ENMLTSENKVIEPQYFGLAYLFRKVIEEQLEPAVEKISIMAERLANQFAIYKPVTDFFLQLVDAGKVDDARALLQ
  RCGAIAEQTPILLLFLLRNSRKQGKASTVKSVLELIPELNEKEEAYNSLMKSYVSEKDVTSAKALYEHLTAKNTK
  LDDLFLKRYASLLKYAGEPVPFIEPPESFEFYAQQLRKLRENSS

• Structural information:
  • Interpro: IPR033490  IPR002885  IPR033443  IPR011990  
  • Prosite: PS51375
  • DIP: 27543
  • STRING: ENSP00000260665
• Other Databases: GeneCards:  LRPPRC  Malacards:  LRPPRC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0000794	condensed nuclear chromosome	IDA	cellular component
GO:0008017	microtubule binding	TAS	molecular function
GO:0005739	mitochondrion	IDA	colocalizes with
GO:0051015	actin filament binding	IDA	NOT|molecular function
GO:0048487	beta-tubulin binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IDA	cellular component
GO:0047497	mitochondrion transport along microtubule	TAS	biological process
GO:0051028	mRNA transport	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0000961	negative regulation of mitochondrial RNA catabolic process	IEA	biological process
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0070129	regulation of mitochondrial translation	IEA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005640	nuclear outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	NAS	molecular function

Diseases

Associated diseases	References
Leigh syndrome	KEGG:H01354
Cytochrome c oxidase	KEGG:H01368
Leigh syndrome	KEGG:H01354
Cytochrome c oxidase	KEGG:H01368
Leigh disease	PMID:12529507
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq