PIPOX pipecolic acid and sarcosine oxidase [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIPOXprovided by HGNC
Official Full Name: pipecolic acid and sarcosine oxidaseprovided by HGNC
Primary source: HGNC:HGNC:17804
See related: Ensembl:ENSG00000179761 MIM:616713; AllianceGenome:HGNC:17804
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LPIPOX
Summary: Enables L-pipecolate oxidase activity and sarcosine oxidase activity. Involved in L-lysine catabolic process to acetyl-CoA via L-pipecolate. Located in peroxisome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in liver (RPKM 113.3) and kidney (RPKM 56.6) See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (29043141..29057216)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (29985859..29999934)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (27370159..27384234)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32936 (e-PCR)
- UniSTS:117514

G38154 (e-PCR)
- UniSTS:53341

RH36300 (e-PCR)
- UniSTS:86903

RH67627 (e-PCR)
- UniSTS:85451

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-pipecolate oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-pipecolate oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-pipecolate oxidase activity	NAS Non-traceable Author Statement more info	PubMed
enables L-pipecolate oxidase activity	TAS Traceable Author Statement more info
enables flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sarcosine oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sarcosine oxidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in L-lysine catabolic process to acetyl-CoA via L-pipecolate	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-lysine catabolic process to acetyl-CoA via L-pipecolate	IDA Inferred from Direct Assay more info	PubMed
involved_in lysine catabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in peroxisomal matrix	TAS Traceable Author Statement more info
is_active_in peroxisome	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: peroxisomal sarcosine oxidase

Names: L-pipecolate oxidase; L-pipecolic acid oxidase; PSO; pipecolic acid oxidase

NP_057602.2

EC 1.5.3.1

EC 1.5.3.7

XP_054172342.1

EC 1.5.3.1

EC 1.5.3.7

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_016518.3 → NP_057602.2 peroxisomal sarcosine oxidase

See identical proteins and their annotated locations for NP_057602.2

Status: VALIDATED

Source sequence(s)

AF134593, BC008960

Consensus CDS

CCDS11248.1

UniProtKB/Swiss-Prot

B3KNH0, P79371, Q96H28, Q9C070, Q9P0Z9

UniProtKB/TrEMBL

Q6IAJ9

Related

ENSP00000317721.4, ENST00000323372.9

Conserved Domains (2) summary

TIGR01377
Location:8 → 388

soxA_mon; sarcosine oxidase, monomeric form

pfam13450
Location:12 → 38

NAD_binding_8; NAD(P)-binding Rossmann-like domain