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    PEX11G peroxisomal biogenesis factor 11 gamma [ Homo sapiens (human) ]

    Gene ID: 92960, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PEX11Gprovided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 11 gammaprovided by HGNC
    Primary source
    HGNC:HGNC:20208
    See related
    Ensembl:ENSG00000104883 MIM:607583; AllianceGenome:HGNC:20208
    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
    PEX11gamma
    Summary
    The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
    Expression
    Broad expression in testis (RPKM 3.6), kidney (RPKM 2.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PEX11G in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7476875..7494977, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7477542..7495642, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7541761..7554286, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene insulin receptor Neighboring gene uncharacterized LOC124904626 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7212577-7213123 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:7213124-7213669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13874 Neighboring gene MPRA-validated peak3317 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:7257400-7258262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7288463-7288964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7292867-7293625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9978 Neighboring gene Rho/Rac guanine nucleotide exchange factor 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7438718-7439322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7439323-7439927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7447849-7448349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13881 Neighboring gene ARHGEF18 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:7459704-7460144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13882 Neighboring gene MPRA-validated peak3319 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7462888-7463393 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7463394-7463898 Neighboring gene MPRA-validated peak3320 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13886 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:7501123-7501310 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:7515146-7515690 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:7515691-7516233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9981 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7541732-7542367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7548591-7549112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9983 Neighboring gene Sharpr-MPRA regulatory region 6634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9984 Neighboring gene Sharpr-MPRA regulatory region 11228 Neighboring gene uncharacterized LOC105372261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9985 Neighboring gene stabilizer of axonemal microtubules 5 Neighboring gene zinc finger protein 358

    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. cDNA cloning and characterization of the third isoform of human peroxin Pex11p. Tanaka A, et al. Biochem Biophys Res Commun, 2003 Jan 24. PMID 12559946
    2. 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
    3. PEX11 family members are membrane elongation factors that coordinate peroxisome proliferation and maintenance. Koch J, et al. J Cell Sci, 2010 Oct 1. PMID 20826455
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. coordinates peroxisome membrane proliferation and maintenance
      Title: PEX11 family members are membrane elongation factors that coordinate peroxisome proliferation and maintenance.
    2. Data show that Pex11pgamma is a peroxisomal membrane protein, with both the N- and C-termini exposed to the cytosol.
      Title: cDNA cloning and characterization of the third isoform of human peroxin Pex11p.
    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)

    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

    • MGC4281

    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 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 regulation of peroxisome size IDA
    Inferred from Direct Assay
    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 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 11C
    Names
    PEX11-gamma
    Peroxisomal membrane protein 11G
    Pex11pgamma
    peroxin Pex11p gamma
    peroxin-11C
    peroxisomal biogenesis factor 11C
    peroxisomal biogenesis factor 11G
    protein PEX11 homolog gamma

    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_001270539.2 → NP_001257468.1  peroxisomal membrane protein 11C isoform 2

      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)
      BC008780, BI833221, HY002496
      UniProtKB/TrEMBL
      M0R328
      Related
      ENSP00000472956.1, ENST00000593547.1
      Conserved Domains (1) summary
      pfam05648
      Location:4 → 160
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    2. NM_001300881.2 → NP_001287810.1  peroxisomal membrane protein 11C isoform 3

      See identical proteins and their annotated locations for NP_001287810.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 3' terminal exon, lacks a portion of the 5' coding region and initiates translation at 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)
      AL833945, BC008780
      Consensus CDS
      CCDS77227.1
      UniProtKB/Swiss-Prot
      Q96HA9
      Conserved Domains (1) summary
      pfam05648
      Location:1 → 159
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    3. NM_080662.4 → NP_542393.1  peroxisomal membrane protein 11C isoform 1

      See identical proteins and their annotated locations for NP_542393.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC008780, HY002496
      Consensus CDS
      CCDS12178.1
      UniProtKB/Swiss-Prot
      Q8NDM0, Q96HA9
      Related
      ENSP00000221480.1, ENST00000221480.6
      Conserved Domains (1) summary
      pfam05648
      Location:4 → 229
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      7476875..7494977 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528428.1 → XP_011526730.1  peroxisomal membrane protein 11C isoform X4

      See identical proteins and their annotated locations for XP_011526730.1

      UniProtKB/Swiss-Prot
      Q96HA9
      Related
      ENSP00000472216.1, ENST00000593942.5
      Conserved Domains (1) summary
      pfam05648
      Location:1 → 159
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    2. XM_011528429.3 → XP_011526731.1  peroxisomal membrane protein 11C isoform X4

      See identical proteins and their annotated locations for XP_011526731.1

      UniProtKB/Swiss-Prot
      Q96HA9
      Conserved Domains (1) summary
      pfam05648
      Location:1 → 159
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    3. XM_011528431.3 → XP_011526733.1  peroxisomal membrane protein 11C isoform X4

      See identical proteins and their annotated locations for XP_011526733.1

      UniProtKB/Swiss-Prot
      Q96HA9
      Conserved Domains (1) summary
      pfam05648
      Location:1 → 159
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    4. XM_011528432.2 → XP_011526734.1  peroxisomal membrane protein 11C isoform X5

      UniProtKB/TrEMBL
      M0R328
      Conserved Domains (1) summary
      pfam05648
      Location:4 → 146
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    5. XM_005272506.3 → XP_005272563.1  peroxisomal membrane protein 11C isoform X2

      Conserved Domains (1) summary
      pfam05648
      Location:4 → 208
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    6. XM_011528427.3 → XP_011526729.1  peroxisomal membrane protein 11C isoform X3

      Conserved Domains (1) summary
      pfam05648
      Location:4 → 143
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    7. XM_011528426.3 → XP_011526728.1  peroxisomal membrane protein 11C isoform X1

      Conserved Domains (1) summary
      pfam05648
      Location:4 → 143
      PEX11; Peroxisomal biogenesis factor 11 (PEX11)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      7477542..7495642 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322624.1 → XP_054178599.1  peroxisomal membrane protein 11C isoform X4

    2. XM_054322625.1 → XP_054178600.1  peroxisomal membrane protein 11C isoform X4

    3. XM_054322626.1 → XP_054178601.1  peroxisomal membrane protein 11C isoform X4

    4. XM_054322627.1 → XP_054178602.1  peroxisomal membrane protein 11C isoform X5

    5. XM_054322622.1 → XP_054178597.1  peroxisomal membrane protein 11C isoform X2

    6. XM_054322623.1 → XP_054178598.1  peroxisomal membrane protein 11C isoform X3

    7. XM_054322621.1 → XP_054178596.1  peroxisomal membrane protein 11C isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HA9.1 GenPept UniProtKB/Swiss-Prot:Q96HA9

    Gene LinkOut

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

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