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Q15738

- NSDHL_HUMAN

UniProt

Q15738 - NSDHL_HUMAN

Protein

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

Gene

NSDHL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 2 (30 May 2000)
      Previous versions | rss
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    Functioni

    Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.1 Publication

    Catalytic activityi

    A 3-beta-hydroxysteroid-4-alpha-carboxylate + NAD(P)+ = a 3-oxosteroid + CO2 + NAD(P)H.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei172 – 1721Proton acceptorBy similarity
    Binding sitei176 – 1761NADBy similarity

    GO - Molecular functioni

    1. 3-beta-hydroxy-delta5-steroid dehydrogenase activity Source: ProtInc
    2. sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity Source: UniProtKB-EC

    GO - Biological processi

    1. cholesterol biosynthetic process Source: Reactome
    2. hair follicle development Source: Ensembl
    3. labyrinthine layer blood vessel development Source: Ensembl
    4. small molecule metabolic process Source: Reactome
    5. smoothened signaling pathway Source: Ensembl

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Cholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

    Keywords - Ligandi

    NAD

    Enzyme and pathway databases

    BioCyciMetaCyc:HS07423-MONOMER.
    ReactomeiREACT_9405. Cholesterol biosynthesis.
    UniPathwayiUPA00770; UER00757.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (EC:1.1.1.170)
    Alternative name(s):
    Protein H105e3
    Gene namesi
    Name:NSDHL
    Synonyms:H105E3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:13398. NSDHL.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Single-pass membrane protein 1 Publication. Lipid droplet 1 Publication
    Note: Trafficking through the Golgi is necessary for ER membrane localization.

    GO - Cellular componenti

    1. endoplasmic reticulum Source: LIFEdb
    2. endoplasmic reticulum membrane Source: Reactome
    3. integral component of membrane Source: UniProtKB-KW
    4. intracellular membrane-bounded organelle Source: HPA
    5. lipid particle Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Lipid droplet, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]: An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti105 – 1051A → V in CHILD. 1 Publication
    VAR_010207
    Natural varianti182 – 1821A → P in CHILD. 1 Publication
    VAR_065289
    Natural varianti205 – 2051G → S in CHILD. 1 Publication
    VAR_010208
    CK syndrome (CKS) [MIM:300831]: A disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti232 – 2321Missing in CKS; temperature-sensitive hypomorphic mutation; able to correctly fold and function at 30 degrees Celsius; impaired function at 37 degrees Celsius due to abnormal folding and protein degradation. 1 Publication
    VAR_065290

    Keywords - Diseasei

    Disease mutation, Ichthyosis, Mental retardation

    Organism-specific databases

    MIMi300831. phenotype.
    308050. phenotype.
    Orphaneti139. CHILD syndrome.
    251383. CK syndrome.
    PharmGKBiPA134959020.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 373373Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylatingPRO_0000087799Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine2 Publications

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ15738.
    PaxDbiQ15738.
    PeptideAtlasiQ15738.
    PRIDEiQ15738.

    2D gel databases

    REPRODUCTION-2DPAGEQ15738.

    PTM databases

    PhosphoSiteiQ15738.

    Expressioni

    Tissue specificityi

    Brain, heart, liver, lung, kidney, skin and placenta.

    Gene expression databases

    ArrayExpressiQ15738.
    BgeeiQ15738.
    CleanExiHS_NSDHL.
    GenevestigatoriQ15738.

    Organism-specific databases

    HPAiHPA000248.
    HPA000571.

    Interactioni

    Protein-protein interaction databases

    BioGridi119131. 1 interaction.
    IntActiQ15738. 1 interaction.
    MINTiMINT-5001307.
    STRINGi9606.ENSP00000359297.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15738.
    SMRiQ15738. Positions 39-366.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei298 – 31821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi359 – 3624Prevents secretion from ER

    Sequence similaritiesi

    Belongs to the 3-beta-HSD family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0451.
    HOGENOMiHOG000167989.
    HOVERGENiHBG054675.
    InParanoidiQ15738.
    KOiK07748.
    OMAiEPMRDQV.
    PhylomeDBiQ15738.
    TreeFamiTF354279.

    Family and domain databases

    Gene3Di3.40.50.720. 1 hit.
    InterProiIPR002225. 3Beta_OHSteriod_DH/Estase.
    IPR016040. NAD(P)-bd_dom.
    [Graphical view]
    PfamiPF01073. 3Beta_HSD. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q15738-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEPAVSEPMR DQVARTHLTE DTPKVNADIE KVNQNQAKRC TVIGGSGFLG    50
    QHMVEQLLAR GYAVNVFDIQ QGFDNPQVRF FLGDLCSRQD LYPALKGVNT 100
    VFHCASPPPS SNNKELFYRV NYIGTKNVIE TCKEAGVQKL ILTSSASVIF 150
    EGVDIKNGTE DLPYAMKPID YYTETKILQE RAVLGANDPE KNFLTTAIRP 200
    HGIFGPRDPQ LVPILIEAAR NGKMKFVIGN GKNLVDFTFV ENVVHGHILA 250
    AEQLSRDSTL GGKAFHITND EPIPFWTFLS RILTGLNYEA PKYHIPYWVA 300
    YYLALLLSLL VMVISPVIQL QPTFTPMRVA LAGTFHYYSC ERAKKAMGYQ 350
    PLVTMDDAME RTVQSFRHLR RVK 373
    Length:373
    Mass (Da):41,900
    Last modified:May 30, 2000 - v2
    Checksum:i30A6E5CE91ED1C77
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti105 – 1051A → V in CHILD. 1 Publication
    VAR_010207
    Natural varianti182 – 1821A → P in CHILD. 1 Publication
    VAR_065289
    Natural varianti205 – 2051G → S in CHILD. 1 Publication
    VAR_010208
    Natural varianti232 – 2321Missing in CKS; temperature-sensitive hypomorphic mutation; able to correctly fold and function at 30 degrees Celsius; impaired function at 37 degrees Celsius due to abnormal folding and protein degradation. 1 Publication
    VAR_065290

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U47105 mRNA. Translation: AAC50558.2.
    U82671 Genomic DNA. No translation available.
    CH471172 Genomic DNA. Translation: EAW72898.1.
    CH471172 Genomic DNA. Translation: EAW72899.1.
    BC000245 mRNA. Translation: AAH00245.1.
    BC007816 mRNA. Translation: AAH07816.1.
    CCDSiCCDS14717.1.
    RefSeqiNP_001123237.1. NM_001129765.1.
    NP_057006.1. NM_015922.2.
    XP_006724887.1. XM_006724824.1.
    UniGeneiHs.57698.

    Genome annotation databases

    EnsembliENST00000370274; ENSP00000359297; ENSG00000147383.
    ENST00000440023; ENSP00000391854; ENSG00000147383.
    GeneIDi50814.
    KEGGihsa:50814.
    UCSCiuc004fgs.1. human.

    Polymorphism databases

    DMDMi8488997.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U47105 mRNA. Translation: AAC50558.2 .
    U82671 Genomic DNA. No translation available.
    CH471172 Genomic DNA. Translation: EAW72898.1 .
    CH471172 Genomic DNA. Translation: EAW72899.1 .
    BC000245 mRNA. Translation: AAH00245.1 .
    BC007816 mRNA. Translation: AAH07816.1 .
    CCDSi CCDS14717.1.
    RefSeqi NP_001123237.1. NM_001129765.1.
    NP_057006.1. NM_015922.2.
    XP_006724887.1. XM_006724824.1.
    UniGenei Hs.57698.

    3D structure databases

    ProteinModelPortali Q15738.
    SMRi Q15738. Positions 39-366.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119131. 1 interaction.
    IntActi Q15738. 1 interaction.
    MINTi MINT-5001307.
    STRINGi 9606.ENSP00000359297.

    PTM databases

    PhosphoSitei Q15738.

    Polymorphism databases

    DMDMi 8488997.

    2D gel databases

    REPRODUCTION-2DPAGE Q15738.

    Proteomic databases

    MaxQBi Q15738.
    PaxDbi Q15738.
    PeptideAtlasi Q15738.
    PRIDEi Q15738.

    Protocols and materials databases

    DNASUi 50814.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370274 ; ENSP00000359297 ; ENSG00000147383 .
    ENST00000440023 ; ENSP00000391854 ; ENSG00000147383 .
    GeneIDi 50814.
    KEGGi hsa:50814.
    UCSCi uc004fgs.1. human.

    Organism-specific databases

    CTDi 50814.
    GeneCardsi GC0XP151999.
    GeneReviewsi NSDHL.
    HGNCi HGNC:13398. NSDHL.
    HPAi HPA000248.
    HPA000571.
    MIMi 300275. gene.
    300831. phenotype.
    308050. phenotype.
    neXtProti NX_Q15738.
    Orphaneti 139. CHILD syndrome.
    251383. CK syndrome.
    PharmGKBi PA134959020.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0451.
    HOGENOMi HOG000167989.
    HOVERGENi HBG054675.
    InParanoidi Q15738.
    KOi K07748.
    OMAi EPMRDQV.
    PhylomeDBi Q15738.
    TreeFami TF354279.

    Enzyme and pathway databases

    UniPathwayi UPA00770 ; UER00757 .
    BioCyci MetaCyc:HS07423-MONOMER.
    Reactomei REACT_9405. Cholesterol biosynthesis.

    Miscellaneous databases

    GeneWikii NSDHL.
    GenomeRNAii 50814.
    NextBioi 53261.
    PROi Q15738.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15738.
    Bgeei Q15738.
    CleanExi HS_NSDHL.
    Genevestigatori Q15738.

    Family and domain databases

    Gene3Di 3.40.50.720. 1 hit.
    InterProi IPR002225. 3Beta_OHSteriod_DH/Estase.
    IPR016040. NAD(P)-bd_dom.
    [Graphical view ]
    Pfami PF01073. 3Beta_HSD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Levin M.L., Herman G.E.
      Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Heart.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Eye.
    7. "A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28."
      Levin M.L., Chatterjee A., Pragliola A., Worley K.C., Wehnert M., Zhuchenko O., Smith R.F., Lee C.C., Herman G.E.
      Genome Res. 6:465-477(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: PRELIMINARY NUCLEOTIDE SEQUENCE [MRNA] OF 224-373.
      Tissue: Heart.
    8. "NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets."
      Caldas H., Herman G.E.
      Hum. Mol. Genet. 12:2981-2991(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, ER RETENTION MOTIF.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome."
      Konig A., Happle R., Bornholdt D., Engel H., Grzeschik K.H.
      Am. J. Med. Genet. 90:339-346(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CHILD VAL-105 AND SER-205.
    13. "A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement."
      Konig A., Happle R., Fink-Puches R., Soyer H.P., Bornholdt D., Engel H., Grzeschik K.H.
      J. Am. Acad. Dermatol. 46:594-596(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CHILD PRO-182.
    14. Cited for: VARIANT CKS LYS-232 DEL, CHARACTERIZATION OF VARIANT CKS LYS-232 DEL.

    Entry informationi

    Entry nameiNSDHL_HUMAN
    AccessioniPrimary (citable) accession number: Q15738
    Secondary accession number(s): D3DWT6, O00344
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: May 30, 2000
    Last modified: October 1, 2014
    This is version 136 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3