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PEX10 peroxisomal biogenesis factor 10 [ Homo sapiens (human) ]

Gene ID: 5192, updated on 23-Nov-2021

Summary

Official Symbol
PEX10provided by HGNC
Official Full Name
peroxisomal biogenesis factor 10provided by HGNC
Primary source
HGNC:HGNC:8851
See related
Ensembl:ENSG00000157911 MIM:602859
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
NALD; PBD6A; PBD6B; RNF69
Summary
This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in prostate (RPKM 12.5), fat (RPKM 12.4) and 25 other tissues See more
Orthologs
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Genomic context

See PEX10 in Genome Data Viewer
Location:
1p36.32
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (2403974..2413827, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2335413..2345266, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MORN repeat containing 1 Neighboring gene small nuclear ribonucleoprotein polypeptide N pseudogene Neighboring gene Sharpr-MPRA regulatory region 13804 Neighboring gene retention in endoplasmic reticulum sorting receptor 1 Neighboring gene phospholipase C eta 2 Neighboring gene Sharpr-MPRA regulatory region 13638 Neighboring gene pantothenate kinase 4 (inactive)

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
GeneReviews: Not available
Peroxisome biogenesis disorder 6A
MedGen: C3553947 OMIM: 614870 GeneReviews: Not available
Compare labs
Peroxisome biogenesis disorder 6B
MedGen: C3553948 OMIM: 614871 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1998

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in peroxisome organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein import into peroxisome matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein import into peroxisome matrix 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
PubMed 
located_in peroxisomal membrane TAS
Traceable Author Statement
more info
 
located_in peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
peroxisome biogenesis factor 10
Names
RING finger protein 69
peroxin 10
peroxisome assembly protein 10

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

  1. NG_008342.1 RefSeqGene

    Range
    5001..12770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001374425.1NP_001361354.1  peroxisome biogenesis factor 10 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL513477
    Conserved Domains (2) summary
    cd16527
    Location:292330
    RING-HC_PEX10; RING finger, HC subclass, found in peroxin-10 (PEX10) and similar proteins
    pfam04757
    Location:18262
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  2. NM_001374426.1NP_001361355.1  peroxisome biogenesis factor 10 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL513477
    Conserved Domains (2) summary
    cd16527
    Location:148186
    RING-HC_PEX10; RING finger, HC subclass, found in peroxin-10 (PEX10) and similar proteins
    pfam04757
    Location:2118
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  3. NM_001374427.1NP_001361356.1  peroxisome biogenesis factor 10 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL513477
    Conserved Domains (2) summary
    cd16527
    Location:129167
    RING-HC_PEX10; RING finger, HC subclass, found in peroxin-10 (PEX10) and similar proteins
    pfam04757
    Location:299
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  4. NM_002617.4NP_002608.1  peroxisome biogenesis factor 10 isoform 2

    See identical proteins and their annotated locations for NP_002608.1

    Status: REVIEWED

    Source sequence(s)
    AL513477
    Consensus CDS
    CCDS44045.1
    UniProtKB/Swiss-Prot
    O60683
    UniProtKB/TrEMBL
    A0A024R068
    Related
    ENSP00000407922.2, ENST00000447513.7
    Conserved Domains (2) summary
    cd00162
    Location:273314
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam04757
    Location:18243
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  5. NM_153818.2NP_722540.1  peroxisome biogenesis factor 10 isoform 1

    See identical proteins and their annotated locations for NP_722540.1

    Status: REVIEWED

    Source sequence(s)
    AL513477
    Consensus CDS
    CCDS41.1
    UniProtKB/Swiss-Prot
    O60683
    UniProtKB/TrEMBL
    A0A024R0A4
    Related
    ENSP00000288774.3, ENST00000288774.8
    Conserved Domains (2) summary
    cd00162
    Location:293334
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam04757
    Location:18263
    Pex2_Pex12; Pex2 / Pex12 amino terminal region

RNA

  1. NR_164636.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL513477

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    2403974..2413827 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541576.2XP_011539878.1  peroxisome biogenesis factor 10 isoform X1

    Related
    ENSP00000423051.1, ENST00000510434.1
    Conserved Domains (1) summary
    pfam04757
    Location:18199
    Pex2_Pex12; Pex2 / Pex12 amino terminal region

RNA

  1. XR_946666.2 RNA Sequence

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