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    PEX11B peroxisomal biogenesis factor 11 beta [ Homo sapiens (human) ]

    Gene ID: 8799, updated on 2-Nov-2024

    Summary

    Official Symbol
    PEX11Bprovided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 11 betaprovided by HGNC
    Primary source
    HGNC:HGNC:8853
    See related
    Ensembl:ENSG00000131779 MIM:603867; AllianceGenome:HGNC:8853
    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
    PEX14B; PEX11beta; PEX11-BETA
    Summary
    The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]
    Expression
    Ubiquitous expression in brain (RPKM 12.5), thyroid (RPKM 11.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PEX11B in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (145911348..145918717, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (145028165..145035536, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145516372..145523732)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1268 Neighboring gene uncharacterized LOC107985593 Neighboring gene integrin subunit alpha 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145516673-145517219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:145516125-145516672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1617 Neighboring gene gonadotropin releasing hormone receptor 2 (pseudogene) Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:145507474-145508673 Neighboring gene RNA binding motif protein 8A Neighboring gene LIX1L antisense RNA 1 Neighboring gene limb and CNS expressed 1 like

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Peroxisome biogenesis disorder 14B
    MedGen: C3554055 OMIM: 614920 GeneReviews: Not available
    Compare labs

    Interactions

    General gene information

    Potential readthrough

    Included gene: RBM8A

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in peroxisome fission  
    involved_in peroxisome fission PubMed 
    involved_in peroxisome organization PubMed 
    involved_in peroxisome organization  
    involved_in regulation of peroxisome size PubMed 
    involved_in signal transduction  
    Component Evidence Code Pubs
    located_in cytosol  
    located_in intracellular membrane-bounded organelle  
    located_in membrane PubMed 
    located_in mitochondrion  
    located_in nucleoplasm  
    is_active_in peroxisomal membrane  
    located_in peroxisomal membrane PubMed 
    located_in peroxisomal membrane  
    located_in peroxisomal membrane  
    located_in peroxisome PubMed 
    part_of protein-containing complex PubMed 

    General protein information

    Preferred Names
    peroxisomal membrane protein 11B
    Names
    peroxin-11B
    peroxisomal biogenesis factor 11B
    protein PEX11 homolog beta

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_033000.3 RefSeqGene

      Range
      5208..12575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184795.1NP_001171724.1  peroxisomal membrane protein 11B isoform 2

      See identical proteins and their annotated locations for NP_001171724.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK301983, AW162134, BG435901, CB155824
      Consensus CDS
      CCDS72870.1
      UniProtKB/Swiss-Prot
      O96011
      Related
      ENSP00000437510.1, ENST00000537888.1
      Conserved Domains (1) summary
      pfam05648
      Location:4236
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)
    2. NM_003846.3NP_003837.1  peroxisomal membrane protein 11B isoform 1

      See identical proteins and their annotated locations for NP_003837.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK023991, AW162134, BG435901, DB054933
      Consensus CDS
      CCDS72871.1
      UniProtKB/Swiss-Prot
      B3KN85, B4DXH9, O96011, Q96ET2
      Related
      ENSP00000358312.3, ENST00000369306.8
      Conserved Domains (1) summary
      pfam05648
      Location:1250
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    RNA

    1. NR_073491.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction at the 3' end of the first exon compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC011963, DB054933, HY108328
    2. NR_073492.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction at the 5' end of the second exon compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC243547, BC011963, BG423552, DB054933
    3. NR_073493.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' end compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK301983, AW162134, BC011963, DA157450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      145911348..145918717 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      145028165..145035536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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