RHBDD1
entrez
84236
canonical
uniprot
Q8TEB9
canonical
ensembl
ENSG00000144468
resolver
ensp
ENSP00000344779
resolver
ensp
ENSP00000375914
resolver
ensp
ENSP00000552984
resolver
ensp
ENSP00000552985
resolver
ensp
ENSP00000552986
resolver
ensp
ENSP00000552987
resolver
ensp
ENSP00000552988
resolver
ensp
ENSP00000552992
resolver
ensp
ENSP00000552993
resolver
ensp
ENSP00000552999
resolver
ensp
ENSP00000598375
resolver
ensp
ENSP00000598376
resolver
ensp
ENSP00000789612
resolver
ensp
ENSP00000792954
resolver
genesymbol
RHBDD1
resolver
genesymbol_syn
RHBDL4
resolver
hgnc
HGNC:23081
resolver
uniprot
Q495B9
resolver
uniprot
Q53S43
resolver
uniprot
Q5EBM8
resolver
uniprot
Q6P5V8
resolver
uniprot
Q8IV60
resolver
uniprot
Q9H057
resolver
uniprot_entry
RHBL4_HUMAN
resolver
uniprot_sec
Q495B9
resolver
uniprot_sec
Q53S43
resolver
uniprot_sec
Q5EBM8
resolver
uniprot_sec
Q6P5V8
resolver
uniprot_sec
Q8IV60
resolver
uniprot_sec
Q9H057
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by aprotinin. {ECO:0000269|PubMed:18953687}.
uniprot
proteins
amino_acid_sequence
MQRRSRGINTGLILLLSQIFHVGINNIPPVTLATLALNIWFFLNPQKPLYSSCLSVEKCYQQKDWQRLLLSPLHHADDWHLYFNMASMLWKGINLERRLGSRWFAYVITAFSVLTGVVYLLLQFAVAEFMDEPDFKRSCAVGFSGVLFALKVLNNHYCPGGFVNILGFPVPNRFACWVELVAIHLFSPGTSFAGHLAGILVGLMYTQGPLKKIMEACAGGFSSSVGYPGRQYYFNSSGSSGYQDYYPHGRPDHYEEAPRNYDTYTAGLSEEEQLERALQASLWDRGNTRNSPPPYGFHLSPEEMRRQRLHRFDSQ
uniprot
proteins
ec_number
3.4.21.105
uniprot
proteins
function
FUNCTION: Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing. Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of spermatogenesis; inhibits apoptotic activity in spermatogonia. {ECO:0000269|PubMed:18953687, ECO:0000269|PubMed:22624035}.
uniprot
proteins
mass_dalton
35823
uniprot
proteins
mutagenesis
MUTAGEN 142; /note="G->A: Enzyme inactivation. Reduces the cleavage of BIK."; /evidence="ECO:0000269|PubMed:18953687"; MUTAGEN 144; /note="S->A: Enzyme inactivation. Reduces the cleavage of BIK and TSAP6. Increases TSAP6-mediated exosome secretion."; /evidence="ECO:0000269|PubMed:18953687, ECO:0000269|PubMed:22624035
uniprot
proteins
protein_family
Peptidase S54 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18953687
uniprot
proteins
pubmed
22624035
uniprot
proteins
pubmed
22795130
uniprot
proteins
sequence_length
315
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22795130}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion membrane {ECO:0000269|PubMed:18953687}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 22..42; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 107..127; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 139..157; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 181..201; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins