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    PEX11A peroxisomal biogenesis factor 11 alpha [ Homo sapiens (human) ]

    Gene ID: 8800, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PEX11Aprovided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 11 alphaprovided by HGNC
    Primary source
    HGNC:HGNC:8852
    See related
    Ensembl:ENSG00000166821 MIM:603866; AllianceGenome:HGNC:8852
    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
    PMP28; hsPEX11p; PEX11alpha; PEX11-ALPHA
    Summary
    This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
    Expression
    Ubiquitous expression in fat (RPKM 14.4), prostate (RPKM 9.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    15q26.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89681535..89690754, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87437417..87446633, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90224766..90233985, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene TOPBP1 interacting checkpoint and replication regulator Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:90171995-90173194 Neighboring gene kinesin family member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6801 Neighboring gene Sharpr-MPRA regulatory region 5394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6802 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:90215543-90215807 Neighboring gene Sharpr-MPRA regulatory region 3473 Neighboring gene perilipin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10054 Neighboring gene ribosomal protein L36a pseudogene 43 Neighboring gene WD repeat domain 93 Neighboring gene RNA, U6 small nuclear 132, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6804 Neighboring gene mesoderm posterior bHLH transcription factor 1

    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. Peroxisomes: membrane events accompanying peroxisome proliferation. Opaliński Ł, et al. Int J Biochem Cell Biol, 2011 Jun. PMID 21419861
    2. Peroxisome proliferator-activated receptor subtypes differentially cooperate with other transcription factors in selective transactivation of the perilipin/PEX11 alpha gene pair. Shimizu M, et al. J Biochem, 2006 Mar. PMID 16567422
    3. Clofibrate-inducible, 28-kDa peroxisomal integral membrane protein is encoded by PEX11. Abe I, et al. FEBS Lett, 1998 Jul 24. PMID 9714566
    4. PEX11 promotes peroxisome division independently of peroxisome metabolism. Li X, et al. J Cell Biol, 2002 Feb 18. PMID 11839773, Free PMC Article
    5. PEX11alpha is required for peroxisome proliferation in response to 4-phenylbutyrate but is dispensable for peroxisome proliferator-activated receptor alpha-mediated peroxisome proliferation. Li X, et al. Mol Cell Biol, 2002 Dec. PMID 12417726, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mice lacking PEX11-alpha have normal peroxisome abundance.
      Title: PEX11alpha is required for peroxisome proliferation in response to 4-phenylbutyrate but is dispensable for peroxisome proliferator-activated receptor alpha-mediated peroxisome proliferation.
    2. coordinates peroxisome membrane proliferation and maintenance
      Title: PEX11 family members are membrane elongation factors that coordinate peroxisome proliferation and maintenance.
    3. Cooperation with other transcription factors may be differentially involved in selective transactivation of the PEX11alpha gene by different peroxisome proliferator-activated receptor subtypes.
      Title: Peroxisome proliferator-activated receptor subtypes differentially cooperate with other transcription factors in selective transactivation of the perilipin/PEX11 alpha gene pair.
    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC119947, MGC138534

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in brown fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peroxisome fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peroxisome fission IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peroxisome membrane biogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of peroxisome size IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 TAS
    Traceable Author Statement
    more info
    		  
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    peroxisomal membrane protein 11A
    Names
    28 kDa peroxisomal integral membrane protein
    peroxin-11A
    peroxisomal biogenesis factor 11A
    peroxisomal integral membrane protein 28-kDa
    protein PEX11 homolog alpha

    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_001271572.2 → NP_001258501.1  peroxisomal membrane protein 11A isoform 2

      See identical proteins and their annotated locations for NP_001258501.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AI494060, AK001415, AK300978, AL360141, DA773492
      Consensus CDS
      CCDS61751.1
      UniProtKB/Swiss-Prot
      O75192
      UniProtKB/TrEMBL
      B2R8C6
      Related
      ENSP00000453492.1, ENST00000561257.1
      Conserved Domains (1) summary
      pfam05648
      Location:1 → 206
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    2. NM_001271573.2 → NP_001258502.1  peroxisomal membrane protein 11A isoform 3

      See identical proteins and their annotated locations for NP_001258502.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region and uses a downstream start codon compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC013787, AI494060, AK001415, AK297442, AL360141
      UniProtKB/TrEMBL
      B4DMF6
      Conserved Domains (1) summary
      pfam05648
      Location:44 → 92
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    3. NM_003847.3 → NP_003838.1  peroxisomal membrane protein 11A isoform 1

      See identical proteins and their annotated locations for NP_003838.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC013787, AI494060, AK001415, AL360141
      Consensus CDS
      CCDS10354.1
      UniProtKB/Swiss-Prot
      B4DV88, O75192
      UniProtKB/TrEMBL
      B2R8C6
      Related
      ENSP00000300056.3, ENST00000300056.8
      Conserved Domains (1) summary
      pfam05648
      Location:1 → 237
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      89681535..89690754 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      87437417..87446633 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75192.1 GenPept UniProtKB/Swiss-Prot:O75192

    Gene LinkOut

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

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