Details for: NSDHL

Gene ID: 50814

Symbol: NSDHL

Ensembl ID: ENSG00000147383

Description: NAD(P) dependent steroid dehydrogenase-like

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 69.8511
    Cell Significance Index: -10.8700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 44.3142
    Cell Significance Index: -11.2400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 30.9748
    Cell Significance Index: -12.7600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 28.0857
    Cell Significance Index: -11.4100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 12.0765
    Cell Significance Index: -11.5300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.0855
    Cell Significance Index: -12.4400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.3787
    Cell Significance Index: -11.7300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.1956
    Cell Significance Index: -12.6100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.4942
    Cell Significance Index: 474.6500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9194
    Cell Significance Index: 47.7600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8453
    Cell Significance Index: 50.7500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6985
    Cell Significance Index: 9.5300
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.4685
    Cell Significance Index: 6.5000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4444
    Cell Significance Index: 12.8100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4368
    Cell Significance Index: 71.0500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4069
    Cell Significance Index: 11.0800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3881
    Cell Significance Index: 17.5900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3875
    Cell Significance Index: 24.4300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3664
    Cell Significance Index: 200.0900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3385
    Cell Significance Index: 67.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3013
    Cell Significance Index: 37.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2915
    Cell Significance Index: 52.5400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2622
    Cell Significance Index: 5.6800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.2557
    Cell Significance Index: 2.3600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2489
    Cell Significance Index: 17.6000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2304
    Cell Significance Index: 15.9400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1852
    Cell Significance Index: 81.8800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1726
    Cell Significance Index: 12.8600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1562
    Cell Significance Index: 15.4500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1482
    Cell Significance Index: 6.9100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1360
    Cell Significance Index: 3.8000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1291
    Cell Significance Index: 16.6900
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.1291
    Cell Significance Index: 1.8500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.1208
    Cell Significance Index: 1.8100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1189
    Cell Significance Index: 23.8600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1172
    Cell Significance Index: 16.1000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1097
    Cell Significance Index: 5.1600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0938
    Cell Significance Index: 4.8900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0677
    Cell Significance Index: 4.3700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0672
    Cell Significance Index: 11.4700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0574
    Cell Significance Index: 1.8400
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.0559
    Cell Significance Index: 0.7900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0504
    Cell Significance Index: 1.4800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0447
    Cell Significance Index: 16.0200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0443
    Cell Significance Index: 1.1700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0380
    Cell Significance Index: 0.8100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0326
    Cell Significance Index: 22.5800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0294
    Cell Significance Index: 0.6800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0213
    Cell Significance Index: 1.1200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0165
    Cell Significance Index: 2.1100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0127
    Cell Significance Index: 0.2600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0091
    Cell Significance Index: 6.9100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0047
    Cell Significance Index: 4.2300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0013
    Cell Significance Index: 2.4300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0007
    Cell Significance Index: -1.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0014
    Cell Significance Index: -2.6200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0020
    Cell Significance Index: -0.2300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0060
    Cell Significance Index: -0.2100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0092
    Cell Significance Index: -6.7100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0101
    Cell Significance Index: -13.7200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0109
    Cell Significance Index: -8.0500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0134
    Cell Significance Index: -8.5300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0161
    Cell Significance Index: -0.4300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0166
    Cell Significance Index: -1.7000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0174
    Cell Significance Index: -0.6100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0174
    Cell Significance Index: -9.8200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0183
    Cell Significance Index: -2.1000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0224
    Cell Significance Index: -10.1800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0257
    Cell Significance Index: -1.3000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0258
    Cell Significance Index: -16.1400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0358
    Cell Significance Index: -2.0100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0454
    Cell Significance Index: -13.0500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0547
    Cell Significance Index: -4.2000
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0608
    Cell Significance Index: -0.8600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0616
    Cell Significance Index: -0.7000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0617
    Cell Significance Index: -8.9700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0655
    Cell Significance Index: -13.7900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0725
    Cell Significance Index: -1.2200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0769
    Cell Significance Index: -8.9600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0877
    Cell Significance Index: -2.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1031
    Cell Significance Index: -2.6500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1205
    Cell Significance Index: -12.5500
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: -0.1275
    Cell Significance Index: -0.1700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1279
    Cell Significance Index: -3.4200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1352
    Cell Significance Index: -1.4000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1401
    Cell Significance Index: -5.7400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1443
    Cell Significance Index: -11.4300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1709
    Cell Significance Index: -10.4800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1810
    Cell Significance Index: -3.0300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1904
    Cell Significance Index: -2.0700
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.1911
    Cell Significance Index: -1.2000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1948
    Cell Significance Index: -2.8800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.2053
    Cell Significance Index: -2.8800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2078
    Cell Significance Index: -9.1900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.2279
    Cell Significance Index: -1.8200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2299
    Cell Significance Index: -3.9400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2381
    Cell Significance Index: -3.5200
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.2397
    Cell Significance Index: -1.8100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2404
    Cell Significance Index: -6.0100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2491
    Cell Significance Index: -7.1400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Steroid Metabolism:** NSDHL is specifically involved in the conversion of 3-beta-hydroxy-delta5-steroid dehydrogenase (3β-HSD) to 3-beta-hydroxysteroid dehydrogenase/c4-decarboxylase (3β-HSD/C4D). This enzyme catalyzes the decarboxylation of 3β-HSD, enabling the synthesis of cholesterol and other steroid hormones. 2. **Oxidoreductase Activity:** NSDHL exhibits NAD(P)-dependent oxidoreductase activity, which is crucial for its role in steroid metabolism. 3. **Sterol-4-alpha-carboxylate 3-dehydrogenase Activity:** This enzyme activity is a hallmark of NSDHL, enabling it to catalyze the decarboxylation of 3α-hydroxy-4-oxopentanoate, a key intermediate in cholesterol biosynthesis. 4. **Cellular Localization:** NSDHL is primarily localized to the endoplasmic reticulum, where it is involved in cholesterol biosynthesis and steroid metabolism. **Pathways and Functions:** 1. **Cholesterol Biosynthesis:** NSDHL plays a critical role in the biosynthesis of cholesterol, which is essential for various cellular processes, including membrane structure and function, hormone production, and energy storage. 2. **Steroid Metabolic Processes:** NSDHL is involved in the metabolism of steroid hormones, including cortisol, aldosterone, and sex steroids, which are essential for maintaining homeostasis and regulating various physiological processes. 3. **Smoothened Signaling Pathway:** NSDHL has been implicated in the Smoothened signaling pathway, which is involved in the development and maintenance of the central nervous system. 4. **Lipid Droplet Regulated:** NSDHL is also involved in the regulation of lipid droplet metabolism, which is essential for maintaining cellular homeostasis and regulating lipid storage and degradation. **Clinical Significance:** 1. **Dysregulation of Cholesterol Biosynthesis:** Abnormalities in NSDHL expression or function have been linked to various diseases, including atherosclerosis, metabolic syndrome, and neurodegenerative disorders. 2. **Cancer Development:** NSDHL has been implicated in the development and progression of certain cancers, including breast, lung, and colon cancer, where it may contribute to tumor growth and metastasis. 3. **Neurological Disorders:** NSDHL may also play a role in neurological disorders, such as Alzheimer's disease, Parkinson's disease, and schizophrenia, where it may contribute to the development of neurodegenerative symptoms. In conclusion, NSDHL is a multifunctional enzyme that plays a critical role in steroid metabolism, cholesterol biosynthesis, and signaling pathways. Its dysregulation has been linked to various diseases, highlighting the importance of understanding its functions and mechanisms of action.

Genular Protein ID: 2243668626

Symbol: NSDHL_HUMAN

Name: Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

UniProtKB Accession Codes:

Q15738 D3DWT6 O00344

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 51 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 3 EMBL 6 Ensembl 4 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 18 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10854409

Title: Comparative genome sequence analysis of the Bpa/Str region in mouse and man.

PubMed ID: 10854409

DOI: 10.1101/gr.10.6.758

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8828036

Title: A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.

PubMed ID: 8828036

DOI: 10.1101/gr.6.6.465

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 10710235

Title: Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.

PubMed ID: 10710235

DOI: 10.1002/(sici)1096-8628(20000214)90:4<339::aid-ajmg15>3.3.co;2-x

PubMed ID: 11907515

Title: A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.

PubMed ID: 11907515

DOI: 10.1067/mjd.2002.113680

PubMed ID: 21129721

Title: Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

PubMed ID: 21129721

DOI: 10.1016/j.ajhg.2010.11.004

PubMed ID: 32140747

Title: Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity.

PubMed ID: 32140747

DOI: 10.1007/s00018-020-03490-2

Sequence Information:

  • Length: 373
  • Mass: 41900
  • Checksum: 30A6E5CE91ED1C77
  • Sequence:
    • MEPAVSEPMR DQVARTHLTE DTPKVNADIE KVNQNQAKRC TVIGGSGFLG QHMVEQLLAR 
GYAVNVFDIQ QGFDNPQVRF FLGDLCSRQD LYPALKGVNT VFHCASPPPS SNNKELFYRV 
NYIGTKNVIE TCKEAGVQKL ILTSSASVIF EGVDIKNGTE DLPYAMKPID YYTETKILQE 
RAVLGANDPE KNFLTTAIRP HGIFGPRDPQ LVPILIEAAR NGKMKFVIGN GKNLVDFTFV 
ENVVHGHILA AEQLSRDSTL GGKAFHITND EPIPFWTFLS RILTGLNYEA PKYHIPYWVA 
YYLALLLSLL VMVISPVIQL QPTFTPMRVA LAGTFHYYSC ERAKKAMGYQ PLVTMDDAME 
RTVQSFRHLR RVK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.