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Protein

Peroxisomal membrane protein PEX13

Gene

PEX13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

Caution

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

GO - Biological processi

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
SIGNORiQ92968

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

EuPathDBiHostDB:ENSG00000162928.8
HGNCiHGNC:8855 PEX13
MIMi601789 gene
neXtProtiNX_Q92968

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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 dbSNP:rs61752115EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

DisGeNETi5194
GeneReviewsiPEX13
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, 13 interactors
ELMiQ92968
IntActiQ92968, 6 interactors
MINTiQ92968
STRINGi9606.ENSP00000295030

Structurei

3D structure databases

ProteinModelPortaliQ92968
SMRiQ92968
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini272 – 336SH3PROSITE-ProRule annotationAdd BLAST65

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

Keywords - Domaini

SH3 domain, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR007223 Peroxin-13_N
IPR035463 Pex13
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PANTHERiPTHR19332 PTHR19332, 1 hit
PfamiView protein in Pfam
PF04088 Peroxin-13_N, 1 hit
PF14604 SH3_9, 1 hit
PRINTSiPR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00326 SH3, 1 hit
SUPFAMiSSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit

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 dbSNP:rs61752115EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiPEX13_HUMAN
AccessioniPrimary (citable) accession number: Q92968
Secondary accession number(s): B2RCS1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: December 15, 1998
Last modified: May 23, 2018
This is version 169 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health