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

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: mouse all
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Genomic context

Location:: 1q21.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (145911348..145918717, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (145028165..145035536, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (145516372..145523732)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Two siblings with PEX11B-related peroxisome biogenesis disorder.
Title: Two siblings with PEX11B-related peroxisome biogenesis disorder.
Genetic defects in peroxisome morphogenesis (Pex11beta, dynamin-like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid-phospholipid metabolism.
Title: Genetic defects in peroxisome morphogenesis (Pex11β, dynamin-like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid-phospholipid metabolism.
PEX11beta and FIS1 cooperate in peroxisome division independently of mitochondrial fission factor.
Title: PEX11β and FIS1 cooperate in peroxisome division independently of mitochondrial fission factor.
Authors provide evidence that PXMP2 is not essential for H2O2 permeation across the peroxisomal membrane, neither in control cells nor in cells lacking PEX11B, a peroxisomal membrane-shaping protein whose yeast homologue facilitates the permeation of molecules up to 400Da.
Title: Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting.
Next generation sequencing identified biallelic loss-of-function mutations in PEX11B as the underlying cause of disease in each case (PEX11B c.235C>T p.(Arg79Ter) homozygous; PEX11B c.136C>T p.(Arg46Ter) homozygous; PEX11B c.595C>T p.(Arg199Ter) heterozygous, PEX11B ex1-3 del heterozygous).
Title: Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Self-interaction of human Pex11beta during peroxisomal growth and division regulates its membrane deforming activity in conjunction with membrane lipids.
Title: Self-interaction of human Pex11pβ during peroxisomal growth and division.
A new study identifies the first patient with a mutation in PEX11beta.These new findings widen the spectrum of clinical and cellular phenotypes of peroxisome biogenesis disorders.
Title: First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes.
Excluding mutations in all PEX genes previously implicated in peroxisome biogenesis disorders, it was found that the defect was caused by a homozygous non-sense mutation in the PEX11beta gene.
Title: A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.
coordinates peroxisome membrane proliferation and maintenance
Title: PEX11 family members are membrane elongation factors that coordinate peroxisome proliferation and maintenance.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D11S3663 (e-PCR)
- UniSTS:152897

WI-18366 (e-PCR)
- UniSTS:10327

PEX11B_1032 (e-PCR)
- UniSTS:275885

PEX11B_V286 (e-PCR)
- UniSTS:275885

PMC55504P1 (e-PCR)
- UniSTS:273345

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 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 organization	IDA Inferred from Direct Assay more info	PubMed
involved_in peroxisome organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of peroxisome size	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
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	ISS Inferred from Sequence or Structural Similarity more info
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 11B

Names: peroxin-11B; peroxisomal biogenesis factor 11B; protein PEX11 homolog beta

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.

Genomic

NG_033000.3 RefSeqGene

Range

5208..12575

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001184795.1 → NP_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:4 → 236

PEX11; Peroxisomal biogenesis factor 11 (PEX11)
NM_003846.3 → NP_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:1 → 250

PEX11; Peroxisomal biogenesis factor 11 (PEX11)

RNA

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
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
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