InnateDB Protein
|
IDBP-101744.5
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
PEX11B
|
Protein Name
|
peroxisomal biogenesis factor 11 beta
|
Synonyms
|
PEX11-BETA; PEX14B;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000358312
|
InnateDB Gene
|
IDBG-101742 (PEX11B)
|
Protein Structure
|
|
Function |
Involved in peroxisomal proliferation. May regulate peroxisomes division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane. {ECO:0000269PubMed:12618434, ECO:0000269PubMed:9792670}.
|
Subcellular Localization |
Peroxisome membrane {ECO:0000269PubMed:10704444, ECO:0000269PubMed:9792670, ECO:0000269PubMed:9826565}; Single-pass membrane protein {ECO:0000269PubMed:10704444, ECO:0000269PubMed:9792670, ECO:0000269PubMed:9826565}.
|
Disease Associations |
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:0000269PubMed:22581968}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
14
[view]
|
Protein-Protein |
9
[view]
|
Protein-DNA |
3
[view]
|
Protein-RNA |
0
|
DNA-DNA |
2
[view]
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR008733
Peroxisomal biogenesis factor 11
|
PFAM |
PF05648
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
O96011
|
PhosphoSite |
PhosphoSite-O96011
|
TrEMBL |
H7C3V6
|
UniProt Splice Variant |
|
Entrez Gene |
8799
|
UniGene |
Hs.727252
|
RefSeq |
NP_003837
|
HUGO |
HGNC:8853
|
OMIM |
603867
|
CCDS |
CCDS72871
|
HPRD |
04844
|
IMGT |
|
EMBL |
AB018080
AF093670
AK023991
AK094173
AK301983
AL160282
BC011963
CH471244
CR542047
|
GenPept |
AAC78660
AAH11963
BAA34812
BAG51247
BAG52835
BAG63391
CAG46844
EAW71422
EAW71423
|
|
|