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Q15738

- NSDHL_HUMAN

UniProt

Q15738 - NSDHL_HUMAN

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Protein

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

Gene
NSDHL, H105E3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 acceptor By similarity
Binding sitei176 – 1761NAD By 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei298 – 31821Helical; Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

Family & Domainsi

Motif

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

Sequence similaritiesi

Belongs to the 3-beta-HSD family.

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.
ENST00000597693; ENSP00000468920; ENSG00000269336.
ENST00000601774; ENSP00000471515; ENSG00000269336.
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.

Chemistry

DrugBanki DB00157. NADH.

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 .
ENST00000597693 ; ENSP00000468920 ; ENSG00000269336 .
ENST00000601774 ; ENSP00000471515 ; ENSG00000269336 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 135 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

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