PEX11B
entrez
8799
canonical
uniprot
O96011
canonical
ensembl
ENSG00000131779
resolver
ensp
ENSP00000358312
resolver
ensp
ENSP00000437510
resolver
genesymbol
PEX11B
resolver
hgnc
HGNC:8853
resolver
uniprot
B3KN85
resolver
uniprot
B4DXH9
resolver
uniprot
Q96ET2
resolver
uniprot_entry
PX11B_HUMAN
resolver
uniprot_sec
B3KN85
resolver
uniprot_sec
B4DXH9
resolver
uniprot_sec
Q96ET2
resolver
amino_acid_sequence
MDAWVRFSAQSQARERLCRAAQYACSLLGHALQRHGASPELQKQIRQLESHLSLGRKLLRLGNSADALESAKRAVHLSDVVLRFCITVSHLNRALYFACDNVLWAGKSGLAPRVDQEKWAQRSFRYYLFSLIMNLSRDAYEIRLLMEQESSACSRRLKGSGGGVPGGSETGGLGGPGTPGGGLPQLALKLRLQVLLLARVLRGHPPLLLDVVRNACDLFIPLDKLGLWRCGPGIVGLCGLVSSILSILTLIYPWLRLKP
uniprot
proteins
disease_involvement
DISEASE: Peroxisome biogenesis disorder 14B (PBD14B) [MIM:614920]: An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed. {ECO:0000269|PubMed:22581968}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in peroxisomal proliferation (PubMed:9792670). May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane (PubMed:12618434). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455). {ECO:0000269|PubMed:12618434, ECO:0000269|PubMed:20826455, ECO:0000269|PubMed:9792670}.
uniprot
proteins
mass_dalton
28431
uniprot
proteins
protein_family
Peroxin-11 family
uniprot
proteins
pubmed
10704444
uniprot
proteins
pubmed
12618434
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20826455
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22581968
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
9792670
uniprot
proteins
pubmed
9826565
uniprot
proteins
sequence_length
259
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:20826455, ECO:0000269|PubMed:9792670, ECO:0000269|PubMed:9826565}; Single-pass membrane protein {ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:9792670, ECO:0000269|PubMed:9826565}.
uniprot
proteins
transmembrane_region
TRANSMEM 233..255; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins