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

Gene ID: 92960, updated on 3-Apr-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
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Genomic context

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Location:
19p13.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7476875..7494977, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7477542..7495642, complement)
105.20220307 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)

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

  • 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_2023_10

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

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