RHBDF1
entrez
64285
canonical
uniprot
Q96CC6
canonical
ensembl
ENSG00000007384
resolver
ensp
ENSP00000262316
resolver
ensp
ENSP00000556957
resolver
ensp
ENSP00000556959
resolver
ensp
ENSP00000556960
resolver
ensp
ENSP00000556961
resolver
ensp
ENSP00000556963
resolver
ensp
ENSP00000587309
resolver
ensp
ENSP00000614492
resolver
ensp
ENSP00000614495
resolver
ensp
ENSP00000614503
resolver
ensp
ENSP00000684466
resolver
enst
ENST00000262316
resolver
enst
ENST00000886898
resolver
enst
ENST00000886900
resolver
enst
ENST00000886902
resolver
enst
ENST00000886904
resolver
enst
ENST00000917250
resolver
enst
ENST00000944433
resolver
enst
ENST00000944436
resolver
enst
ENST00000944444
resolver
genesymbol
RHBDF1
resolver
genesymbol_syn
C16orf8
resolver
genesymbol_syn
DIST1
resolver
genesymbol_syn
IRHOM1
resolver
hgnc
HGNC:20561
resolver
uniprot
Q04842
resolver
uniprot
Q1W6H2
resolver
uniprot
Q4TT59
resolver
uniprot
Q96S34
resolver
uniprot
Q9H6E1
resolver
uniprot_entry
RHDF1_HUMAN
resolver
uniprot_sec
Q04842
resolver
uniprot_sec
Q1W6H2
resolver
uniprot_sec
Q4TT59
resolver
uniprot_sec
Q96S34
resolver
uniprot_sec
Q9H6E1
resolver
amino_acid_sequence
MSEARRDSTSSLQRKKPPWLKLDIPSAVPLTAEEPSFLQPLRRQAFLRSVSMPAETAHISSPHHELRRPVLQRQTSITQTIRRGTADWFGVSKDSDSTQKWQRKSIRHCSQRYGKLKPQVLRELDLPSQDNVSLTSTETPPPLYVGPCQLGMQKIIDPLARGRAFRVADDTAEGLSAPHTPVTPGAASLCSFSSSRSGFHRLPRRRKRESVAKMSFRAAAALMKGRSVRDGTFRRAQRRSFTPASFLEEDTTDFPDELDTSFFAREGILHEELSTYPDEVFESPSEAALKDWEKAPEQADLTGGALDRSELERSHLMLPLERGWRKQKEGAAAPQPKVRLRQEVVSTAGPRRGQRIAVPVRKLFAREKRPYGLGMVGRLTNRTYRKRIDSFVKRQIEDMDDHRPFFTYWLTFVHSLVTILAVCIYGIAPVGFSQHETVDSVLRNRGVYENVKYVQQENFWIGPSSEALIHLGAKFSPCMRQDPQVHSFIRSAREREKHSACCVRNDRSGCVQTSEEECSSTLAVWVKWPIHPSAPELAGHKRQFGSVCHQDPRVCDEPSSEDPHEWPEDITKWPICTKNSAGNHTNHPHMDCVITGRPCCIGTKGRCEITSREYCDFMRGYFHEEATLCSQVHCMDDVCGLLPFLNPEVPDQFYRLWLSLFLHAGILHCLVSICFQMTVLRDLEKLAGWHRIAIIYLLSGVTGNLASAIFLPYRAEVGPAGSQFGILACLFVELFQSWQILARPWRAFFKLLAVVLFLFTFGLLPWIDNFAHISGFISGLFLSFAFLPYISFGKFDLYRKRCQIIIFQVVFLGLLAGLVVLFYVYPVRCEWCEFLTCIPFTDKFCEKYELDAQLH
uniprot
proteins
function
FUNCTION: Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation (PubMed:15965977, PubMed:18524845, PubMed:18832597, PubMed:21439629). Does not exhibit any protease activity on its own (PubMed:21439629). Regulator of proteosomal assembly by promoting formation of the proteosome assembly chaperone PSMG1-PSMG2 heterodimer, positively regulating proteosome activity (PubMed:26109405). {ECO:0000269|PubMed:15965977, ECO:0000269|PubMed:18524845, ECO:0000269|PubMed:18832597, ECO:0000269|PubMed:21439629, ECO:0000269|PubMed:26109405}.
uniprot
proteins
mass_dalton
97401
uniprot
proteins
mutagenesis
MUTAGEN 131; /note="N->Q: No effect."; /evidence="ECO:0000269|PubMed:15965977"; MUTAGEN 381; /note="N->Q: No effect."; /evidence="ECO:0000269|PubMed:15965977"; MUTAGEN 583; /note="N->Q: Loss of N-glycosylation."; /evidence="ECO:0000269|PubMed:15965977
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:15965977}.
uniprot
proteins
protein_family
Peptidase S54 family
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
15965977
uniprot
proteins
pubmed
16728641
uniprot
proteins
pubmed
18524845
uniprot
proteins
pubmed
18832597
uniprot
proteins
pubmed
21439629
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26109405
uniprot
proteins
pubmed
29897333
uniprot
proteins
pubmed
29897336
uniprot
proteins
pubmed
8318735
uniprot
proteins
sequence_length
855
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15965977, ECO:0000269|PubMed:18832597, ECO:0000269|PubMed:21439629, ECO:0000269|PubMed:26109405}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:15965977, ECO:0000269|PubMed:18832597}; Multi-pass membrane protein {ECO:0000255}. Note=Predominantly localized in the endoplasmic reticulum membrane (PubMed:15965977). {ECO:0000269|PubMed:15965977}.
uniprot
proteins
transmembrane_region
TRANSMEM 412..432; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 656..676; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 692..712; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 715..735; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 747..767; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 773..793; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 804..824; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins