PYCR1

Protein identityUniProt · HPA

UniProt accession

P32322

Gene

PYCR1

Ensembl

ENSG00000183010

Chromosome

17

Canonical length

319 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Quaternary structure

Homodecamer

OverviewNCBI Gene

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

319 residues, UniProt reviewed canonical sequence.

>P32322|PYCR1
     1  MSVGFIGAGQ LAFALAKGFT AAGVLAAHKI MASSPDMDLA TVSALRKMGV KLTPHNKETV
    61  QHSDVLFLAV KPHIIPFILD EIGADIEDRH IVVSCAAGVT ISSIEKKLSA FRPAPRVIRC
   121  MTNTPVVVRE GATVYATGTH AQVEDGRLME QLLSSVGFCT EVEEDLIDAV TGLSGSGPAY
   181  AFTALDALAD GGVKMGLPRR LAVRLGAQAL LGAAKMLLHS EQHPGQLKDN VSSPGGATIH
   241  ALHVLESGGF RSLLINAVEA SCIRTRELQS MADQEQVSPA AIKKTILDKV KLDSPAGTAL
   301  SPSGHTKLLP RSLAPAGKD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PYCR1 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)

0.34

Highest tissue expression

114 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PYCR1.

Disease | AllUniProt

Conditions PYCR1 is implicated in, by any mechanism.

• Cutis laxa, autosomal recessive, 2B (ARCL2B) MIM:612940
• Cutis laxa, autosomal recessive, 3B (ARCL3B) MIM:614438

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 379 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive cutis laxa type 2B
• PYCR1-related de Barsy syndrome
• Cutis laxa
• PYCR1-related disorder
• Wiedemann-Rautenstrauch-like progeroid syndrome

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)

1.26

gnomAD pLI

0

gnomAD missense Z

0.17

DepMap mean gene effect

-0.04

DepMap dependency class

none

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

• cellular response to oxidative stress
• L-proline biosynthetic process
• negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
• regulation of mitochondrial membrane potential

Molecular functions

• identical protein binding
• pyrroline-5-carboxylate reductase activity

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Pyrroline-5-carboxylate reductase-like
• 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily
• Pyrroline-5-carboxylate reductase, catalytic, N-terminal
• Pyrroline-5-carboxylate reductase, dimerisation domain
• NAD(P)-binding domain superfamily
• Pyrroline-5-carboxylate reductase-like conserved site
• NADP oxidoreductase coenzyme F420-dependent
• Pyrroline-5-carboxylate reductase dimerisation

KeywordsUniProt

• Acetylation
• Amino-acid biosynthesis
• Mitochondrion
• NADP
• Oxidoreductase
• Phosphoprotein
• Proline biosynthesis
• Stress response

InteractionsUniProt · HPA

Protein binding partners of PYCR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• LTO1
• HSPA9
• METTL15
• MTIF2
• PYCR2