LRPPRC

Protein identityUniProt · HPA

UniProt accession

P42704

Gene

LRPPRC

Ensembl

ENSG00000138095

Chromosome

2

Canonical length

1394 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria,Acrosome,Mid piece,End piece

OverviewNCBI Gene

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 regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

1394 residues, UniProt reviewed canonical sequence.

>P42704|LRPPRC
     1  MAALLRSARW LLRAGAAPRL PLSLRLLPGG PGRLHAASYL PAARAGPVAG GLLSPARLYA
    61  IAAKEKDIQE ESTFSSRKIS NQFDWALMRL DLSVRRTGRI PKKLLQKVFN DTCRSGGLGG
   121  SHALLLLRSC GSLLPELKLE ERTEFAHRIW DTLQKLGAVY DVSHYNALLK VYLQNEYKFS
   181  PTDFLAKMEE ANIQPNRVTY QRLIASYCNV GDIEGASKIL GFMKTKDLPV TEAVFSALVT
   241  GHARAGDMEN AENILTVMRD AGIEPGPDTY LALLNAYAEK GDIDHVKQTL EKVEKSELHL
   301  MDRDLLQIIF SFSKAGYPQY VSEILEKVTC ERRYIPDAMN LILLLVTEKL EDVALQILLA
   361  CPVSKEDGPS VFGSFFLQHC VTMNTPVEKL TDYCKKLKEV QMHSFPLQFT LHCALLANKT
   421  DLAKALMKAV KEEGFPIRPH YFWPLLVGRR KEKNVQGIIE ILKGMQELGV HPDQETYTDY
   481  VIPCFDSVNS ARAILQENGC LSDSDMFSQA GLRSEAANGN LDFVLSFLKS NTLPISLQSI
   541  RSSLLLGFRR SMNINLWSEI TELLYKDGRY CQEPRGPTEA VGYFLYNLID SMSDSEVQAK
   601  EEHLRQYFHQ LEKMNVKIPE NIYRGIRNLL ESYHVPELIK DAHLLVESKN LDFQKTVQLT
   661  SSELESTLET LKAENQPIRD VLKQLILVLC SEENMQKALE LKAKYESDMV TGGYAALINL
   721  CCRHDKVEDA LNLKEEFDRL DSSAVLDTGK YVGLVRVLAK HGKLQDAINI LKEMKEKDVL
   781  IKDTTALSFF HMLNGAALRG EIETVKQLHE AIVTLGLAEP STNISFPLVT VHLEKGDLST
   841  ALEVAIDCYE KYKVLPRIHD VLCKLVEKGE TDLIQKAMDF VSQEQGEMVM LYDLFFAFLQ
   901  TGNYKEAKKI IETPGIRARS ARLQWFCDRC VANNQVETLE KLVELTQKLF ECDRDQMYYN
   961  LLKLYKINGD WQRADAVWNK IQEENVIPRE KTLRLLAEIL REGNQEVPFD VPELWYEDEK
  1021  HSLNSSSAST TEPDFQKDIL IACRLNQKKG AYDIFLNAKE QNIVFNAETY SNLIKLLMSE
  1081  DYFTQAMEVK AFAETHIKGF TLNDAANSRL IITQVRRDYL KEAVTTLKTV LDQQQTPSRL
  1141  AVTRVIQALA MKGDVENIEV VQKMLNGLED SIGLSKMVFI NNIALAQIKN NNIDAAIENI
  1201  ENMLTSENKV IEPQYFGLAY LFRKVIEEQL EPAVEKISIM AERLANQFAI YKPVTDFFLQ
  1261  LVDAGKVDDA RALLQRCGAI AEQTPILLLF LLRNSRKQGK ASTVKSVLEL IPELNEKEEA
  1321  YNSLMKSYVS EKDVTSAKAL YEHLTAKNTK LDDLFLKRYA SLLKYAGEPV PFIEPPESFE
  1381  FYAQQLRKLR ENSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LRPPRC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

46 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LRPPRC.

Disease | AllUniProt

Conditions LRPPRC is implicated in, by any mechanism.

• Mitochondrial complex IV deficiency, nuclear type 5 (MC4DN5) MIM:220111

Disease | GeneticClinVar

335 pathogenic / likely-pathogenic of 2,374 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
• LRPPRC-related disorder
• Thyroid cancer, nonmedullary, 1
• Squamous cell carcinoma of the head and neck
• Nonpapillary renal cell carcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.53

gnomAD pLI

0

gnomAD missense Z

-1.93

DepMap mean gene effect

-0.62

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• autophagy
• mitochondrial mRNA polyadenylation
• mitochondrial RNA catabolic process
• mitochondrion transport along microtubule
• mRNA transport
• negative regulation of mitochondrial mRNA catabolic process
• regulation of mitochondrial translation

Molecular functions

• beta-tubulin binding
• microtubule binding
• mRNA 3'-UTR binding
• mRNA binding
• RNA binding
• single-stranded DNA binding
• ubiquitin protein ligase binding

Cellular components

• acrosomal vesicle
• condensed nuclear chromosome
• cytoskeleton
• membrane
• microtubule
• mitochondrial matrix
• mitochondrial nucleoid
• mitochondrion
• nuclear inner membrane
• nuclear outer membrane
• nucleoplasm
• nucleus
• perinuclear region of cytoplasm
• ribonucleoprotein complex
• sperm end piece
• sperm midpiece

Protein domainsUniProt · Pfam · InterPro

• Pentatricopeptide repeat
• Tetratricopeptide-like helical domain superfamily
• PROP1-like, PPR domain
• Pentatricopeptide repeat domain
• Pentacotripeptide-repeat region of PRORP
• Leucine-rich PPR motif-containing protein
• PPR repeat

KeywordsUniProt

• Acetylation
• Autophagy
• DNA-binding
• Leigh syndrome
• Membrane
• Mitochondrion
• mRNA transport
• Nucleus
• Phosphoprotein
• Primary mitochondrial disease
• Repeat
• RNA-binding
• Transcription
• Transcription regulation
• Transit peptide
• Transport

InteractionsUniProt · HPA

Protein binding partners of LRPPRC in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BECN1
• CECR2
• FOXO1
• HEBP2
• MAP1S
• PPARGC1A
• UXT
• RNF146
• IPO8
• EIF4E
• XPO1
• APP
• GADD45GIP1
• HNRNPL
• MYC
• SLIRP