ENSG00000147383


Homo sapiens

Features
Gene ID: ENSG00000147383
  
Biological name :NSDHL
  
Synonyms : NAD(P) dependent steroid dehydrogenase-like / NSDHL / Q15738
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q28
Gene start: 152830967
Gene end: 152869729
  
Corresponding Affymetrix probe sets: 209279_s_at (Human Genome U133 Plus 2.0 Array)   215093_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000396266
Ensembl peptide - ENSP00000359297
Ensembl peptide - ENSP00000391854
NCBI entrez gene - 50814     See in Manteia.
OMIM - 300275
RefSeq - XM_017029564
RefSeq - NM_001129765
RefSeq - NM_015922
RefSeq - XM_011531178
RefSeq Peptide - NP_057006
RefSeq Peptide - NP_001123237
swissprot - Q15738
swissprot - C9JDR0
Ensembl - ENSG00000147383
  
Related genetic diseases (OMIM): 300831 - CK syndrome, 300831
  308050 - CHILD syndrome, 308050
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nsdhlENSDARG00000099315Danio rerio
 NSDHLENSGALG00000007493Gallus gallus
 NsdhlENSMUSG00000031349Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8WUS8 / SDR42E1 / short chain dehydrogenase/reductase family 42E, member 1ENSG0000018486029
A6NKP2 / SDR42E2 / short chain dehydrogenase/reductase family 42E, member 2ENSG0000018392128
HSD3B7 / Q9H2F3 / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7ENSG0000009937726
HSD3B2 / P26439 / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2ENSG0000020385925
HSD3B1 / P14060 / hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1ENSG0000020385725


Protein motifs (from Interpro)
Interpro ID Name
 IPR002225  3-beta hydroxysteroid dehydrogenase/isomerase
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001942 hair follicle development IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0006695 cholesterol biosynthetic process TAS
 biological_processGO:0007224 smoothened signaling pathway IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0016126 sterol biosynthetic process IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060716 labyrinthine layer blood vessel development IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005811 lipid droplet IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0000252 C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity TAS
 molecular_functionGO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA
 molecular_functionGO:0047012 sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity IEA
 molecular_functionGO:0103066 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity IEA
 molecular_functionGO:0103067 4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) activity IEA


Pathways (from Reactome)
Pathway description
Cholesterol biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000126 Hydronephrosis 
Show

 HP:0000204 Cleft lip "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson]
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
Show

 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000275 Narrow face 
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 HP:0000276 Long face 
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 HP:0000278 Retrognathia 
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 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000358 Posteriorly rotated ears "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson]
Show

 HP:0000365 Hearing loss 
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 HP:0000426 Prominent nasal bridge 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000582 Upslanting palpebral fissures 
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 HP:0000678 Dental overcrowding 
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0000737 Irritability 
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 HP:0000750 Impaired language development 
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 HP:0000752 Hyperactivity 
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 HP:0000773 Short ribs 
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 HP:0000835 Adrenal hypoplasia 
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 HP:0000882 Hypoplastic scapulae 
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 HP:0000894 Short clavicles 
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 HP:0000962 Hyperkeratosis "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators]
Show

 HP:0001036 Parakeratosis 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001302 Pachygyria "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators]
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 HP:0001371 Contractures 
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 HP:0001374 Congenital hip dislocation 
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 HP:0001382 Joint hypermobility "The ability of a joint to move beyond its normal range of motion." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
Show

 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
Show

 HP:0001425 Heterogeneous 
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 HP:0001533 Asthenic habitus "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:curators]
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
Show

 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
Show

 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
Show

 HP:0001671 Abnormality of the cardiac septa 
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 HP:0001750 Single ventricle 
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 HP:0002089 Pulmonary hypoplasia 
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 HP:0002126 Polymicrogyria "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]
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 HP:0002360 Sleep disturbances "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators]
Show

 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002808 Kyphosis 
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 HP:0002977 Aplasia/Hypoplasia involving the central nervous system 
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 HP:0003103 Abnormality of cortical bone "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators]
Show

 HP:0003307 Hyperlordosis 
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 HP:0003462 Elevated 8-dehydrocholesterol 
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 HP:0003465 Elevated 8(9)-cholestenol 
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 HP:0003826 Stillborn or neonatal death 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
Show

 HP:0005990 Hypoplastic thyroid 
Show

 HP:0007431 Congenital ichthyosiform erythroderma 
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 HP:0007874 Almond-shaped palpebral fissures 
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 HP:0008417 Vertebral hypoplasia 
Show

 HP:0008678 Renal hypoplasia/aplasia 
Show

 HP:0008839 Hypoplastic pelvis 
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 HP:0008883 Mild intrauterine growth retardation 
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 HP:0009815 Aplasia/Hypoplasia of the extremities "Absence or underdevelopment of the extremities." [HPO:curators]
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 HP:0010655 Stippling of the epiphyses "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses (FMA:24012)." [HPO:curators]
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 HP:0011297 Abnormality of the digits "A morphological abnormality of a `digit` (FMA:85518), i.e., of a finger or toe." [HPO:probinson]
Show

 HP:0030680 Abnormality of cardiovascular system morphology "Any structural anomaly of the heart and great vessels." []
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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