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RHBDD1 and NSDHL
Data Source:
BioGRID
(two hybrid)
RHBDD1
NSDHL
Description
rhomboid domain containing 1
NAD(P) dependent steroid dehydrogenase-like
Image
GO Annotations
Cellular Component
Endoplasmic Reticulum
Endoplasmic Reticulum Membrane
Integral Component Of Endoplasmic Reticulum Membrane
Mitochondrial Membrane
Endoplasmic Reticulum Quality Control Compartment
Endoplasmic Reticulum
Endoplasmic Reticulum Membrane
Lipid Droplet
Integral Component Of Membrane
Molecular Function
Serine-type Endopeptidase Activity
Protein Binding
C-3 Sterol Dehydrogenase (C-4 Sterol Decarboxylase) Activity
3-beta-hydroxy-delta5-steroid Dehydrogenase Activity
Protein Binding
Oxidoreductase Activity, Acting On The CH-OH Group Of Donors, NAD Or NADP As Acceptor
Sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) Activity
4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) Activity
4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) Activity
Biological Process
Apoptotic Process
Positive Regulation Of Protein Processing
Membrane Protein Intracellular Domain Proteolysis
Cellular Response To Unfolded Protein
Cellular Response To UV
ERAD Pathway
Negative Regulation Of Apoptotic Process
Post-translational Protein Modification
Spermatid Differentiation
Membrane Protein Proteolysis Involved In Retrograde Protein Transport, ER To Cytosol
Regulation Of Male Germ Cell Proliferation
Hair Follicle Development
Cholesterol Biosynthetic Process
Smoothened Signaling Pathway
Cholesterol Metabolic Process
Labyrinthine Layer Blood Vessel Development
Pathways
Cholesterol biosynthesis
Drugs
NADH
Diseases
Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
GWAS
Electrocardiogram morphology (amplitude at temporal datapoints) (
32916098
)
Pulmonary function (
17903307
)
Interacting Genes
18 interacting genes:
CGRRF1
CMTM5
CREB3L1
CTSA
DAPK1
FBXO25
GYPC
LPCAT2
LRRK2
MFHAS1
NSDHL
PLEKHB2
RNF5
SEC22B
SLC66A2
TMEM42
TMEM86B
TMIE
4 interacting genes:
GPR35
RHBDD1
TMEM31
TMX2
Entrez ID
84236
50814
HPRD ID
13206
02229
Ensembl ID
ENSG00000144468
ENSG00000147383
Uniprot IDs
Q8TEB9
A0A384NPZ7
Q15738
PDB IDs
5EPP
6JKG
6JKH
Enriched GO Terms of Interacting Partners
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Tagcloud (Difference)
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Tagcloud (Intersection)
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