MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
1.1.1.12	Oxidoreductases; Acting on the CH-OH group of donors; With NAD+ or NADP+ as acceptor; L-arabinitol 4-dehydrogenase
4.2.1.107	Lyases; Carbon-oxygen lyases; Hydro-lyases; 3α,7α,12α-trihydroxy-5β-cholest-24-enoyl-CoA hydratase
4.2.1.119	Lyases; Carbon-oxygen lyases; Hydro-lyases; enoyl-CoA hydratase 2

Structure

PDB	Resolution (Å)	PDB name
1IKT	1.75	LIGANDED STEROL CARRIER PROTEIN TYPE 2 (SCP-2) LIKE DOMAIN OF HUMAN MULTIFUNCTIONAL ENZYME TYPE 2 (MFE-2)
1S9C	3.0	Crystal structure analysis of the 2-enoyl-CoA hydratase 2 domain of human peroxisomal multifunctional enzyme type 2
1ZBQ	2.19	Crystal Structure Of Human 17-Beta-Hydroxysteroid Dehydrogenase Type 4 In Complex With NAD
6Z1W	2.48	Crystal structure of human steroid carrier protein SL (SCP-2L) mutant A100C
6Z1X	2.09	Crystal structure of human steroid carrier protein SL (SCP-2L) mutant V83C

GO term

GO ontology	GO term	GO description
Biological Process	GO:0060009	Sertoli cell development
Biological Process	GO:0008209	androgen metabolic process
Biological Process	GO:0008210	estrogen metabolic process
Biological Process	GO:0006635	fatty acid beta-oxidation
Biological Process	GO:0036112	medium-chain fatty-acyl-CoA metabolic process
Biological Process	GO:0001649	osteoblast differentiation
Biological Process	GO:0000038	very long-chain fatty acid metabolic process
Biological Process	GO:0036111	very long-chain fatty-acyl-CoA metabolic process
Molecular Function	GO:0106386	(3R)-hydroxyacyl-CoA dehydrogenase (NAD) activity
Molecular Function	GO:0044594	17-beta-hydroxysteroid dehydrogenase (NAD+) activity
Molecular Function	GO:0018812	3-hydroxyacyl-CoA dehydratase activity
Molecular Function	GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity
Molecular Function	GO:0033989	3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity
Molecular Function	GO:0004300	enoyl-CoA hydratase activity
Molecular Function	GO:0004303	estradiol 17-beta-dehydrogenase NAD(P) activity
Molecular Function	GO:0016853	isomerase activity
Molecular Function	GO:0042803	protein homodimerization activity
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0016020	membrane
Cellular Component	GO:0005782	peroxisomal matrix
Cellular Component	GO:0005778	peroxisomal membrane
Cellular Component	GO:0005777	peroxisome

InterPro / Pfam

InterPro	InterPro name
IPR002347	Short-chain dehydrogenase/reductase SDR
IPR002539	MaoC-like dehydratase domain
IPR003033	SCP2 sterol-binding domain
IPR020904	Short-chain dehydrogenase/reductase, conserved site
IPR029069	HotDog domain superfamily
IPR036291	NAD(P)-binding domain superfamily
IPR036527	SCP2 sterol-binding domain superfamily

Pfam	Pfam name
PF00106	short chain dehydrogenase
PF01575	MaoC like domain
PF02036	SCP-2 sterol transfer family

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-193368	Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol	Leaf	R-HSA-1430728	Metabolism
R-HSA-2046106	alpha-linolenic acid (ALA) metabolism	Leaf	R-HSA-1430728	Metabolism
R-HSA-389887	Beta-oxidation of pristanoyl-CoA	Leaf	R-HSA-1430728	Metabolism
R-HSA-390247	Beta-oxidation of very long chain fatty acids	Leaf	R-HSA-1430728	Metabolism
R-HSA-9033241	Peroxisomal protein import	Internal node	R-HSA-9609507	Protein localization
R-HSA-9033500	TYSND1 cleaves peroxisomal proteins	Leaf	R-HSA-9609507	Protein localization

Subcellular location

Location	ECO term	Pubmed
Peroxisome	ECO:0000305

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000107	Renal cyst
HP:0000133	Gonadal dysgenesis
HP:0000218	High palate
HP:0000239	Large fontanelles
HP:0000256	Macrocephaly
HP:0000268	Dolichocephaly
HP:0000270	Delayed cranial suture closure
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000550	Undetectable electroretinogram
HP:0000572	Visual loss
HP:0000582	Upslanted palpebral fissure
HP:0000639	Nystagmus
HP:0000762	Decreased nerve conduction velocity
HP:0000767	Pectus excavatum
HP:0000786	Primary amenorrhea
HP:0000837	Increased circulating gonadotropin level
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0001171	Split hand
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001256	Intellectual disability, mild
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001264	Spastic diplegia
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001272	Cerebellar atrophy
HP:0001284	Areflexia
HP:0001319	Neonatal hypotonia
HP:0001396	Cholestasis
HP:0001397	Hepatic steatosis
HP:0001408	Bile duct proliferation
HP:0001508	Failure to thrive
HP:0001561	Polyhydramnios
HP:0001744	Splenomegaly
HP:0001761	Pes cavus
HP:0001762	Talipes equinovarus
HP:0001765	Hammertoe
HP:0001791	Fetal ascites
HP:0002007	Frontal bossing
HP:0002066	Gait ataxia
HP:0002069	Bilateral tonic-clonic seizure
HP:0002079	Hypoplasia of the corpus callosum
HP:0002080	Intention tremor
HP:0002119	Ventriculomegaly
HP:0002126	Polymicrogyria
HP:0002171	Gliosis
HP:0002240	Hepatomegaly
HP:0002539	Cortical dysplasia
HP:0002650	Scoliosis
HP:0002750	Delayed skeletal maturation
HP:0002832	Calcific stippling
HP:0002910	Elevated hepatic transaminase
HP:0003199	Decreased muscle mass
HP:0003623	Neonatal onset
HP:0004322	Short stature
HP:0005257	Thoracic hypoplasia
HP:0005280	Depressed nasal bridge
HP:0006872	Cerebral hypoplasia
HP:0007141	Sensorimotor neuropathy
HP:0007266	Cerebral dysmyelination
HP:0007371	Corpus callosum atrophy
HP:0007941	Limited extraocular movements
HP:0008167	Very long chain fatty acid accumulation
HP:0008207	Primary adrenal insufficiency
HP:0008872	Feeding difficulties in infancy
HP:0030799	Scaphocephaly
HP:0033044	Motor regression
HP:0033643	Increased circulating very long-chain fatty acid concentration

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	Medium	Enhanced
appendix	endocrine cells	High	Enhanced
appendix	enterocytes	High	Enhanced
appendix	germinal center cells	Medium	Enhanced
appendix	goblet cells	High	Enhanced
bone marrow	hematopoietic cells	Low	Enhanced
breast	glandular cells	Low	Enhanced
breast	myoepithelial cells	Low	Enhanced
bronchus	respiratory epithelial cells	Medium	Enhanced
caudate	glial cells	Low	Enhanced
caudate	neuronal cells	Low	Enhanced
cerebellum	Purkinje cells	Low	Enhanced
cerebellum	cells in granular layer	Low	Enhanced
cerebellum	cells in molecular layer	Low	Enhanced
cerebral cortex	endothelial cells	Low	Enhanced
cerebral cortex	glial cells	Low	Enhanced
cerebral cortex	neuronal cells	Low	Enhanced
cervix	squamous epithelial cells	Low	Enhanced
colon	endocrine cells	High	Enhanced
colon	enterocytes	High	Enhanced
colon	goblet cells	High	Enhanced
colon	mucosal lymphoid cells	Low	Enhanced
duodenum	endocrine cells	High	Enhanced
duodenum	enterocytes	High	Enhanced
duodenum	goblet cells	High	Enhanced
duodenum	paneth cells	Medium	Enhanced
endometrium 1	glandular cells	Medium	Enhanced
endometrium 2	glandular cells	Low	Enhanced
epididymis	glandular cells	High	Enhanced
esophagus	squamous epithelial cells	Low	Enhanced
fallopian tube	glandular cells	Medium	Enhanced
gallbladder	glandular cells	High	Enhanced
heart muscle	cardiomyocytes	Medium	Enhanced
hippocampus	glial cells	Low	Enhanced
hippocampus	neuronal cells	Low	Enhanced
kidney	cells in tubules	Medium	Enhanced
liver	cholangiocytes	Low	Enhanced
liver	hepatocytes	High	Enhanced
lung	alveolar cells type I	Medium	Enhanced
lung	alveolar cells type II	Medium	Enhanced
lung	endothelial cells	Medium	Enhanced
lung	macrophages	High	Enhanced
lymph node	germinal center cells	Low	Enhanced
lymph node	non-germinal center cells	Low	Enhanced
nasopharynx	respiratory epithelial cells	Medium	Enhanced
oral mucosa	squamous epithelial cells	Low	Enhanced
pancreas	exocrine glandular cells	Low	Enhanced
pancreas	pancreatic endocrine cells	Low	Enhanced
parathyroid gland	glandular cells	Medium	Enhanced
placenta	decidual cells	Medium	Enhanced
placenta	trophoblastic cells	Medium	Enhanced
prostate	glandular cells	Medium	Enhanced
rectum	endocrine cells	High	Enhanced
rectum	enterocytes	High	Enhanced
rectum	goblet cells	High	Enhanced
rectum	mucosal lymphoid cells	Low	Enhanced
salivary gland	glandular cells	Low	Enhanced
seminal vesicle	glandular cells	Medium	Enhanced
skeletal muscle	myocytes	Low	Enhanced
skin 2	epidermal cells	Low	Enhanced
small intestine	endocrine cells	High	Enhanced
small intestine	enterocytes	High	Enhanced
small intestine	goblet cells	High	Enhanced
small intestine	paneth cells	Medium	Enhanced
smooth muscle	smooth muscle cells	Low	Enhanced
spleen	cells in red pulp	Low	Enhanced
spleen	cells in white pulp	Low	Enhanced
stomach 1	glandular cells	Medium	Enhanced
stomach 2	glandular cells	Medium	Enhanced
testis	Leydig cells	Medium	Enhanced
testis	spermatogonia cells	High	Enhanced
thyroid gland	glandular cells	Medium	Enhanced
tonsil	germinal center cells	Low	Enhanced
tonsil	non-germinal center cells	Low	Enhanced
tonsil	squamous epithelial cells	Low	Enhanced
urinary bladder	urothelial cells	Medium	Enhanced

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
perrault syndrome 1	MONDO:0009300	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:233400
d-bifunctional protein deficiency	MONDO:0009855	E71	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:261515	Orphanet:300

Summary of P51659

Gene: HSD17B4, EDH17B4, SDR8C1
Protein: Peroxisomal multifunctional enzyme type 2

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P51659

Gene: HSD17B4, EDH17B4, SDR8C1 Protein: Peroxisomal multifunctional enzyme type 2

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: HSD17B4, EDH17B4, SDR8C1
Protein: Peroxisomal multifunctional enzyme type 2