PEX13_HUMAN » Peroxisomal membrane protein PEX13

PEX13_HUMAN » Peroxisomal membrane protein PEX13
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Topology in Peroxisome membrane
Topologyperoxisome lumenal side
cytoplasmic side
PEX13_HUMAN » Peroxisomal membrane protein PEX13 » Peroxin-13;
Hydrophobic Thickness 30.4 ± 3.0 Å
Tilt Angle 35 ± 28°
ΔGtransfer -22.9 kcal/mol
ΔGfold -13.6 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 232-254 (223-257)
Pathways

Peroxisome (KEGG)

PDB none
OPM none
Complexes

PEX14:PEX13_YEAST

Interactions none
Domains

AA: 117-254, Peroxin 13, N-terminal region

AA: 279-332, PDBID: 1WXU, Subunit A, Seq Identity:96%, Variant SH3 domain

UniProt annotation for PEX13_HUMAN » Peroxisomal membrane protein PEX13
FUNCTION: 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.

SUBUNIT: Interacts with PEX19.

DISEASE: Peroxisome biogenesis disorder complementation group 13 (PBD-CG13) OMIM: A 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). Note=The disease is caused by mutations affecting the gene represented in this entry.

DISEASE: Peroxisome biogenesis disorder 11A (PBD11A) OMIM: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

DISEASE: Peroxisome biogenesis disorder 11B (PBD11B) OMIM: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

UniProt features for PEX13_HUMAN » Peroxisomal membrane protein PEX13
CHAIN 1 403 Peroxisomal membrane protein PEX13.
DOMAIN 276 334 SH3.
REGION 145 233 Targeting to peroxisomes.
REGION 175 196 Interaction with PEX19.
Amino Acid Sequence for PEX13_HUMAN » Peroxisomal membrane protein PEX13
MASQPPPPPK PWETRRIPGA GPGPGPGPTF QSADLGPTLM TRPGQPALTR VPPPILPRPS QQTGSSSVNT FRPAYSSFSS GYGAYGNSFY GGYSPYSYGY NGLGYNRLRV DDLPPSRFVQ QAEESSRGAF QSIESIVHAF ASVSMMMDAT FSAVYNSFRA VLDVANHFSR LKIHFTKVFS AFALVRTIRY LYRRLQRMLG LRRGSENEDL WAESEGTVAC LGAEDRAATS AKSWPIFLFF AVILGGPYLI WKLLSTHSDE VTDSINWASG EDDHVVARAE YDFAAVSEEE ISFRAGDMLN LALKEQQPKV RGWLLASLDG QTTGLIPANY VKILGKRKGR KTVESSKVSK QQQSFTNPTL TKGATVADSL DEQEAAFESV FVETNKVPVA PDSIGKDGEK QDL