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

    Gene ID: 11264, updated on 5-Mar-2024

    Summary

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    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
    mouse all
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    Genomic context

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    Location:
    20q11.22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33702758..33720310, complement)
    RS_2023_10 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 ATAC-STARR-seq lymphoblastoid silent region 12817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17739 Neighboring gene N-terminal EF-hand calcium binding protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32259897-32260446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32260995-32261542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32261543-32262090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32262761-32263261 Neighboring gene actin like 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32267321-32267940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32267941-32268559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12820 Neighboring gene E2F transcription factor 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:32287672-32288382 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:32288383-32289094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17741 Neighboring gene uncharacterized LOC124904890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12821 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32321171-32321874 Neighboring gene zinc finger protein 341 Neighboring gene ribosomal protein L31 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identification of a 24 kDa intrinsic membrane protein from mammalian peroxisomes. Reguenga C, et al. Biochim Biophys Acta, 1999 Jun 9. PMID 10366717
    2. PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins. Jones JM, et al. J Cell Biol, 2004 Jan 5. PMID 14709540, Free PMC Article
    3. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. Sacksteder KA, et al. J Cell Biol, 2000 Mar 6. PMID 10704444, Free PMC Article
    4. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Berndt SI, et al. Nat Genet, 2013 May. PMID 23563607, Free PMC Article
    5. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High Expression of PXMP4 in Hepatocellular Carcinoma Tissues.
      Title: High Expression of PXMP4 in Hepatocellular Carcinoma Tissues.
    2. PXMP4 promotes gastric cancer cell epithelial-mesenchymal transition via the PI3K/AKT signaling pathway.
      Title: PXMP4 promotes gastric cancer cell epithelial-mesenchymal transition via the PI3K/AKT signaling pathway.
    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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    involved_in ether lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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

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    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_007238.5 → NP_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
      A2A2I7, Q9H0T4, Q9Y6I8
      Related
      ENSP00000386385.3, ENST00000409299.8
      Conserved Domains (1) summary
      pfam02466
      Location:23 → 138
      Tim17; Tim17/Tim22/Tim23/Pmp24 family

    2. NM_183397.3 → NP_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: GCF_000001405.40-RS_2023_10

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6I8.3 GenPept UniProtKB/Swiss-Prot:Q9Y6I8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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