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PYCR1 pyrroline-5-carboxylate reductase 1 [ Homo sapiens (human) ]

Gene ID: 5831, updated on 23-Dec-2018

Summary

Official Symbol
PYCR1provided by HGNC
Official Full Name
pyrroline-5-carboxylate reductase 1provided by HGNC
Primary source
HGNC:HGNC:9721
See related
Ensembl:ENSG00000183010 MIM:179035
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P5C; P5CR; PRO3; PYCR; PIG45; PP222; ARCL2B; ARCL3B
Summary
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]
Expression
Broad expression in salivary gland (RPKM 19.9), stomach (RPKM 16.0) and 19 other tissues See more
Orthologs

Genomic context

See PYCR1 in Genome Data Viewer
Location:
17q25.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (81932384..81937328, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79890260..79895203, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MAF bZIP transcription factor G Neighboring gene MAFG divergent transcript Neighboring gene myeloid associated differentiation marker like 2 Neighboring gene notum, palmitoleoyl-protein carboxylesterase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
pyrroline-5-carboxylate reductase activity EXP
Inferred from Experiment
more info
PubMed 
pyrroline-5-carboxylate reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
L-proline biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cellular amino acid biosynthetic process TAS
Traceable Author Statement
more info
 
cellular response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of hydrogen peroxide-induced cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
proline biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitochondrial membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pyrroline-5-carboxylate reductase 1, mitochondrial
Names
P5C reductase 1
proliferation-inducing protein 45
NP_001269208.1
NP_001269209.1
NP_001269210.1
NP_001317452.1
NP_008838.2
NP_722546.1
XP_005256438.1
XP_011521885.1
XP_011521886.1
XP_011521887.1
XP_024306617.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023032.1 RefSeqGene

    Range
    4836..9709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282279.1NP_001269208.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001269208.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region and an alternate exon, and initiates translation at an alternate start codon, compared to variant 5. The encoded isoform (3) is shorter than isoform 5.
    Source sequence(s)
    AA026075, AK225879, DA521426
    Consensus CDS
    CCDS62365.1
    UniProtKB/TrEMBL
    E2QRB3
    Related
    ENSP00000385483.4, ENST00000403172.8
    Conserved Domains (1) summary
    cl25964
    Location:1237
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation
  2. NM_001282280.1NP_001269209.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_001269209.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 5. The encoded isoform (1) has a distinct N-terminus and is shorter than isoform 5. Variants 1 and 4 encode the same protein.
    Source sequence(s)
    AA026075, BC071842, DA521426
    Consensus CDS
    CCDS11795.1
    UniProtKB/Swiss-Prot
    P32322
    UniProtKB/TrEMBL
    A0A024R8U9
    Related
    ENSP00000479793.1, ENST00000619204.4
    Conserved Domains (1) summary
    cl25964
    Location:1268
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation
  3. NM_001282281.1NP_001269210.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 5

    See identical proteins and their annotated locations for NP_001269210.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) encodes the longest isoform (5).
    Source sequence(s)
    AA026075, AK297627, BC071842
    Consensus CDS
    CCDS62366.1
    UniProtKB/Swiss-Prot
    P32322
    Related
    ENSP00000384949.2, ENST00000402252.6
    Conserved Domains (1) summary
    cl25964
    Location:28295
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation
  4. NM_001330523.1NP_001317452.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC145207, AK225879, BQ006097
    Consensus CDS
    CCDS82221.1
    UniProtKB/TrEMBL
    J3QL32
    Related
    ENSP00000485679.1, ENST00000629768.2
    Conserved Domains (1) summary
    cl25964
    Location:1214
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation
  5. NM_006907.3NP_008838.2  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_008838.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 5. The encoded isoform (1) has a distinct N-terminus and is shorter than isoform 5. Variants 1 and 4 encode the same protein.
    Source sequence(s)
    AA026075, AL561248, BC001504, BC022244
    Consensus CDS
    CCDS11795.1
    UniProtKB/Swiss-Prot
    P32322
    UniProtKB/TrEMBL
    A0A024R8U9, Q8TBX0
    Related
    ENSP00000328858.8, ENST00000329875.12
    Conserved Domains (1) summary
    cl25964
    Location:1268
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation
  6. NM_153824.2NP_722546.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_722546.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences, compared to variant 5. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 5. The encoded isoform (2) is shorter than isoform 5.
    Source sequence(s)
    AA026075, AF218000, AL561248, BC022244
    Consensus CDS
    CCDS11794.1
    UniProtKB/Swiss-Prot
    P32322
    UniProtKB/TrEMBL
    Q8TBX0
    Related
    ENSP00000336579.5, ENST00000337943.9
    Conserved Domains (3) summary
    PLN02688
    Location:1268
    PLN02688; pyrroline-5-carboxylate reductase
    pfam03807
    Location:498
    F420_oxidored; NADP oxidoreductase coenzyme F420-dependent
    pfam14748
    Location:163267
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerization

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    81932384..81937328 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256381.2XP_005256438.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005256438.1

    UniProtKB/Swiss-Prot
    P32322
    UniProtKB/TrEMBL
    A0A024R8U9
    Conserved Domains (1) summary
    cl25964
    Location:1268
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation
  2. XM_011523584.3XP_011521886.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011521886.1

    UniProtKB/Swiss-Prot
    P32322
    UniProtKB/TrEMBL
    A0A024R8U9
    Conserved Domains (1) summary
    cl25964
    Location:1268
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation
  3. XM_011523585.2XP_011521887.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X2

    Conserved Domains (2) summary
    pfam03807
    Location:31125
    F420_oxidored; NADP oxidoreductase coenzyme F420-dependent
    pfam14748
    Location:190241
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerization
  4. XM_011523583.2XP_011521885.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011521885.1

    UniProtKB/Swiss-Prot
    P32322
    UniProtKB/TrEMBL
    A0A024R8U9
    Conserved Domains (1) summary
    cl25964
    Location:1268
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation
  5. XM_024450849.1XP_024306617.1  pyrroline-5-carboxylate reductase 1, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl25964
    Location:1268
    P5CR_dimer; Pyrroline-5-carboxylate reductase dimerisation
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