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PXMP4 peroxisomal membrane protein 4 [ Homo sapiens (human) ]

Gene ID: 11264, updated on 5-Aug-2022

Summary

Official Symbol
PXMP4provided by HGNC
Official Full Name
peroxisomal membrane protein 4provided by HGNC
Primary source
HGNC:HGNC:15920
See related
Ensembl:ENSG00000101417 MIM:616397; AllianceGenome:HGNC:15920
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
PMP24
Summary
Located in peroxisomal membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lung (RPKM 6.4), thyroid (RPKM 4.6) and 25 other tissues See more
Orthologs
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Genomic context

See PXMP4 in Genome Data Viewer
Location:
20q11.22
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33702758..33720310, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (35429114..35446666, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32290564..32308116, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene N-terminal EF-hand calcium binding protein 3 Neighboring gene actin like 10 Neighboring gene E2F transcription factor 1 Neighboring gene uncharacterized LOC124904890 Neighboring gene zinc finger protein 341 Neighboring gene ribosomal protein L31 pseudogene 2

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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in peroxisomal membrane TAS
Traceable Author Statement
more info
 
located_in peroxisome IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
peroxisomal membrane protein 4
Names
24 kDa peroxisomal intrinsic membrane protein
peroxisomal membrane protein 4, 24kDa

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)

  1. NM_007238.5NP_009169.3  peroxisomal membrane protein 4 isoform a

    See identical proteins and their annotated locations for NP_009169.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AF072864, AI985147, AL050349, AL121906, DB495125
    Consensus CDS
    CCDS13225.1
    UniProtKB/Swiss-Prot
    Q9H0T4, Q9Y6I8
    Related
    ENSP00000386385.3, ENST00000409299.8
    Conserved Domains (1) summary
    pfam02466
    Location:23138
    Tim17; Tim17/Tim22/Tim23/Pmp24 family
  2. NM_183397.3NP_899634.1  peroxisomal membrane protein 4 isoform b

    See identical proteins and their annotated locations for NP_899634.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting predicted isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AI985147, AL050349, AL121906, BQ278083, DB495125
    Consensus CDS
    CCDS13226.1
    UniProtKB/Swiss-Prot
    Q9Y6I8
    Related
    ENSP00000343071.3, ENST00000344022.7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    33702758..33720310 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    35429114..35446666 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)