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PRODH proline dehydrogenase 1 [ Homo sapiens (human) ]

Gene ID: 5625, updated on 5-Aug-2018

Summary

Official Symbol
PRODHprovided by HGNC
Official Full Name
proline dehydrogenase 1provided by HGNC
Primary source
HGNC:HGNC:9453
See related
Ensembl:ENSG00000100033 MIM:606810; Vega:OTTHUMG00000150163
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
POX; PIG6; HSPOX2; PRODH1; PRODH2; TP53I6
Summary
This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
Expression
Biased expression in small intestine (RPKM 24.9), skin (RPKM 13.7) and 11 other tissues See more
Orthologs

Genomic context

See PRODH in Genome Data Viewer
Location:
22q11.21
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (18912774..18936553, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18900206..18924066, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 230 member F Neighboring gene DiGeorge syndrome critical region gene 6 Neighboring gene human-specific endogenous retroviral insert (PRODH) Neighboring gene DiGeorge syndrome critical region gene 5 Neighboring gene DiGeorge syndrome critical region gene 9 Neighboring gene DiGeorge syndrome critical region gene 10

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Proline dehydrogenase deficiency
MedGen: C0268529 OMIM: 239500 GeneReviews: Not available
Compare labs
Schizophrenia 4
MedGen: C1833247 OMIM: 600850 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 Env gp120 upregulates the mitochondrial redox enzyme PRODH (POX) PubMed
env HIV-1 Env gp120 induces PRODH (POX) that elicits reactive oxygen species (ROS)-mediated neuronal autophagy PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33744, MGC148078, MGC148079

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
FAD binding IDA
Inferred from Direct Assay
more info
PubMed 
proline dehydrogenase activity EXP
Inferred from Experiment
more info
PubMed 
proline dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proline dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
4-hydroxyproline catabolic process TAS
Traceable Author Statement
more info
PubMed 
intrinsic apoptotic signaling pathway in response to oxidative stress NAS
Non-traceable Author Statement
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell death IDA
Inferred from Direct Assay
more info
PubMed 
proline catabolic process TAS
Traceable Author Statement
more info
 
proline catabolic process to glutamate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proline catabolic process to glutamate IEA
Inferred from Electronic Annotation
more info
 
proline metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
proline dehydrogenase 1, mitochondrial
Names
p53-induced gene 6 protein
proline dehydrogenase (oxidase) 1
proline oxidase 2
proline oxidase, mitochondrial
tumor protein p53 inducible protein 6
NP_001182155.1
NP_057419.4

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_008226.2 RefSeqGene

    Range
    5001..28780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195226.1NP_001182155.1  proline dehydrogenase 1, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001182155.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing an internal exon at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG and an isoform (2) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    BC036534, BC118597, BC121809, BU730461, CB216963
    Consensus CDS
    CCDS56223.1
    UniProtKB/Swiss-Prot
    O43272
    Related
    ENSP00000334726.2, OTTHUMP00000196496, ENST00000334029.6, OTTHUMT00000316638
    Conserved Domains (2) summary
    PLN02681
    Location:1470
    PLN02681; proline dehydrogenase
    pfam01619
    Location:236470
    Pro_dh; Proline dehydrogenase
  2. NM_016335.4NP_057419.4  proline dehydrogenase 1, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC036534, BC118597, BC121809, BU730461, CB216963, CN362765, U79754
    Consensus CDS
    CCDS13754.1
    UniProtKB/Swiss-Prot
    O43272
    Related
    ENSP00000480347.1, ENST00000610940.4
    Conserved Domains (2) summary
    PLN02681
    Location:31578
    PLN02681; proline dehydrogenase
    pfam01619
    Location:344578
    Pro_dh; Proline dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    18912774..18936553 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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