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Protein

Peroxisomal membrane protein PEX13

Gene

PEX13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000162928-MONOMER.

Protein family/group databases

TCDBi3.A.20.1.1. the peroxisomal protein importer (ppi) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisomal membrane protein PEX13
Alternative name(s):
Peroxin-13
Gene namesi
Name:PEX13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:8855. PEX13.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 226LumenalSequence analysisAdd BLAST226
Transmembranei227 – 251HelicalSequence analysisAdd BLAST25
Topological domaini252 – 403CytoplasmicSequence analysisAdd BLAST152

GO - Cellular componenti

  • integral component of peroxisomal membrane Source: UniProtKB
  • intracellular membrane-bounded organelle Source: HPA
  • membrane Source: UniProtKB
  • peroxisomal membrane Source: UniProtKB
  • peroxisome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Peroxisome biogenesis disorder complementation group 13 (PBD-CG13)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
See also OMIM:614883
Peroxisome biogenesis disorder 11A (PBD11A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
See also OMIM:614883
Peroxisome biogenesis disorder 11B (PBD11B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
See also OMIM:614885
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009306326I → T in PBD11B; neonatal adrenoleukodystrophy. 2 PublicationsCorresponds to variant rs61752115dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

DisGeNETi5194.
MalaCardsiPEX13.
MIMi614883. phenotype.
614885. phenotype.
OpenTargetsiENSG00000162928.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33197.

Polymorphism and mutation databases

BioMutaiPEX13.
DMDMi3914319.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000583231 – 403Peroxisomal membrane protein PEX13Add BLAST403

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei354PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ92968.
MaxQBiQ92968.
PaxDbiQ92968.
PeptideAtlasiQ92968.
PRIDEiQ92968.

PTM databases

iPTMnetiQ92968.
PhosphoSitePlusiQ92968.

Expressioni

Gene expression databases

BgeeiENSG00000162928.
CleanExiHS_PEX13.
ExpressionAtlasiQ92968. baseline and differential.
GenevisibleiQ92968. HS.

Organism-specific databases

HPAiCAB032689.
HPA032141.
HPA032142.

Interactioni

Subunit structurei

Interacts with PEX19.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PEX19P4085512EBI-594849,EBI-594747

Protein-protein interaction databases

BioGridi111217. 11 interactors.
IntActiQ92968. 5 interactors.
MINTiMINT-241563.
STRINGi9606.ENSP00000295030.

Structurei

3D structure databases

ProteinModelPortaliQ92968.
SMRiQ92968.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini276 – 334SH3PROSITE-ProRule annotationAdd BLAST59

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni145 – 233Targeting to peroxisomesAdd BLAST89
Regioni175 – 196Interaction with PEX19Add BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi5 – 11Poly-Pro7

Sequence similaritiesi

Belongs to the peroxin-13 family.Curated
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH3 domain, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3875. Eukaryota.
ENOG410XRU7. LUCA.
GeneTreeiENSGT00390000016883.
HOGENOMiHOG000231374.
HOVERGENiHBG053570.
InParanoidiQ92968.
KOiK13344.
OMAiNGDKQDL.
OrthoDBiEOG091G0LMX.
PhylomeDBiQ92968.
TreeFamiTF327117.

Family and domain databases

InterProiIPR007223. Peroxin-13_N.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF04088. Peroxin-13_N. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q92968-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASQPPPPPK PWETRRIPGA GPGPGPGPTF QSADLGPTLM TRPGQPALTR
60 70 80 90 100
VPPPILPRPS QQTGSSSVNT FRPAYSSFSS GYGAYGNSFY GGYSPYSYGY
110 120 130 140 150
NGLGYNRLRV DDLPPSRFVQ QAEESSRGAF QSIESIVHAF ASVSMMMDAT
160 170 180 190 200
FSAVYNSFRA VLDVANHFSR LKIHFTKVFS AFALVRTIRY LYRRLQRMLG
210 220 230 240 250
LRRGSENEDL WAESEGTVAC LGAEDRAATS AKSWPIFLFF AVILGGPYLI
260 270 280 290 300
WKLLSTHSDE VTDSINWASG EDDHVVARAE YDFAAVSEEE ISFRAGDMLN
310 320 330 340 350
LALKEQQPKV RGWLLASLDG QTTGLIPANY VKILGKRKGR KTVESSKVSK
360 370 380 390 400
QQQSFTNPTL TKGATVADSL DEQEAAFESV FVETNKVPVA PDSIGKDGEK

QDL
Length:403
Mass (Da):44,130
Last modified:December 15, 1998 - v2
Checksum:i1E85BEE04366C01C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009306326I → T in PBD11B; neonatal adrenoleukodystrophy. 2 PublicationsCorresponds to variant rs61752115dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF048755 mRNA. Translation: AAC39844.1.
AB022192 mRNA. Translation: BAA88907.1.
AK315244 mRNA. Translation: BAG37668.1.
CH471053 Genomic DNA. Translation: EAX00018.1.
BC067090 mRNA. Translation: AAH67090.1.
U71374 mRNA. Translation: AAD05572.1.
CCDSiCCDS1866.1.
RefSeqiNP_002609.1. NM_002618.3.
UniGeneiHs.161377.

Genome annotation databases

EnsembliENST00000295030; ENSP00000295030; ENSG00000162928.
GeneIDi5194.
KEGGihsa:5194.
UCSCiuc002sau.5. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF048755 mRNA. Translation: AAC39844.1.
AB022192 mRNA. Translation: BAA88907.1.
AK315244 mRNA. Translation: BAG37668.1.
CH471053 Genomic DNA. Translation: EAX00018.1.
BC067090 mRNA. Translation: AAH67090.1.
U71374 mRNA. Translation: AAD05572.1.
CCDSiCCDS1866.1.
RefSeqiNP_002609.1. NM_002618.3.
UniGeneiHs.161377.

3D structure databases

ProteinModelPortaliQ92968.
SMRiQ92968.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111217. 11 interactors.
IntActiQ92968. 5 interactors.
MINTiMINT-241563.
STRINGi9606.ENSP00000295030.

Protein family/group databases

TCDBi3.A.20.1.1. the peroxisomal protein importer (ppi) family.

PTM databases

iPTMnetiQ92968.
PhosphoSitePlusiQ92968.

Polymorphism and mutation databases

BioMutaiPEX13.
DMDMi3914319.

Proteomic databases

EPDiQ92968.
MaxQBiQ92968.
PaxDbiQ92968.
PeptideAtlasiQ92968.
PRIDEiQ92968.

Protocols and materials databases

DNASUi5194.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295030; ENSP00000295030; ENSG00000162928.
GeneIDi5194.
KEGGihsa:5194.
UCSCiuc002sau.5. human.

Organism-specific databases

CTDi5194.
DisGeNETi5194.
GeneCardsiPEX13.
GeneReviewsiPEX13.
HGNCiHGNC:8855. PEX13.
HPAiCAB032689.
HPA032141.
HPA032142.
MalaCardsiPEX13.
MIMi601789. gene.
614883. phenotype.
614885. phenotype.
neXtProtiNX_Q92968.
OpenTargetsiENSG00000162928.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33197.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3875. Eukaryota.
ENOG410XRU7. LUCA.
GeneTreeiENSGT00390000016883.
HOGENOMiHOG000231374.
HOVERGENiHBG053570.
InParanoidiQ92968.
KOiK13344.
OMAiNGDKQDL.
OrthoDBiEOG091G0LMX.
PhylomeDBiQ92968.
TreeFamiTF327117.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000162928-MONOMER.

Miscellaneous databases

GeneWikiiPEX13.
GenomeRNAii5194.
PROiQ92968.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162928.
CleanExiHS_PEX13.
ExpressionAtlasiQ92968. baseline and differential.
GenevisibleiQ92968. HS.

Family and domain databases

InterProiIPR007223. Peroxin-13_N.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF04088. Peroxin-13_N. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPEX13_HUMAN
AccessioniPrimary (citable) accession number: Q92968
Secondary accession number(s): B2RCS1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: December 15, 1998
Last modified: November 2, 2016
This is version 159 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-40 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.