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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
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Genomic context

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See PEX11A in Genome Data Viewer
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

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