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Q15800

- MSMO1_HUMAN

UniProt

Q15800 - MSMO1_HUMAN

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Protein

Methylsterol monooxygenase 1

Gene

MSMO1

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

Functioni

Catalytic activityi

4,4-dimethyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O2 = 4-beta-hydroxymethyl-4-alpha-methyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)+ + H2O.
4-beta-hydroxymethyl-4-alpha-methyl-5-alpha-cholest-7-en-3-beta-ol + NAD(P)H + O2 = 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carbaldehyde + NAD(P)+ + 2 H2O.
3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carbaldehyde + NAD(P)H + O2 = 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate + NAD(P)+ + H2O.

Cofactori

Iron.Curated

Pathwayi

GO - Molecular functioni

  1. C-4 methylsterol oxidase activity Source: ProtInc
  2. iron ion binding Source: InterPro

GO - Biological processi

  1. cholesterol biosynthetic process Source: Reactome
  2. fatty acid biosynthetic process Source: InterPro
  3. fatty acid metabolic process Source: ProtInc
  4. small molecule metabolic process Source: Reactome
  5. steroid metabolic process Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

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

Keywords - Ligandi

Iron, NAD

Enzyme and pathway databases

BioCyciMetaCyc:HS00650-MONOMER.
ReactomeiREACT_9405. Cholesterol biosynthesis.
UniPathwayiUPA00770; UER00756.

Names & Taxonomyi

Protein namesi
Recommended name:
Methylsterol monooxygenase 1 (EC:1.14.13.72)
Alternative name(s):
C-4 methylsterol oxidase
Gene namesi
Name:MSMO1
Synonyms:DESP4, ERG25, SC4MOL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:10545. MSMO1.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum Source: ProtInc
  2. endoplasmic reticulum membrane Source: Reactome
  3. integral component of membrane Source: ProtInc
  4. plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34955.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 293293Methylsterol monooxygenase 1PRO_0000117033Add
BLAST

Proteomic databases

MaxQBiQ15800.
PaxDbiQ15800.
PRIDEiQ15800.

PTM databases

PhosphoSiteiQ15800.

Expressioni

Gene expression databases

BgeeiQ15800.
CleanExiHS_SC4MOL.
ExpressionAtlasiQ15800. baseline and differential.
GenevestigatoriQ15800.

Organism-specific databases

HPAiHPA056127.

Interactioni

Protein-protein interaction databases

BioGridi112214. 10 interactions.
IntActiQ15800. 2 interactions.
MINTiMINT-2862749.
STRINGi9606.ENSP00000261507.

Structurei

3D structure databases

ProteinModelPortaliQ15800.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei55 – 7521HelicalSequence AnalysisAdd
BLAST
Transmembranei100 – 12021HelicalSequence AnalysisAdd
BLAST
Transmembranei199 – 21921HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi157 – 1615Histidine box-1
Motifi170 – 1745Histidine box-2
Motifi249 – 2557Histidine box-3

Domaini

The histidine box domains may contain the active site and/or be involved in metal ion binding.

Sequence similaritiesi

Belongs to the sterol desaturase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG3000.
GeneTreeiENSGT00530000063017.
HOGENOMiHOG000162289.
HOVERGENiHBG051504.
InParanoidiQ15800.
KOiK07750.
OMAiEKQWKCF.
OrthoDBiEOG747PJB.
PhylomeDBiQ15800.
TreeFamiTF354294.

Family and domain databases

InterProiIPR006694. Fatty_acid_hydroxylase.
[Graphical view]
PfamiPF04116. FA_hydroxylase. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q15800-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MATNESVSIF SSASLAVEYV DSLLPENPLQ EPFKNAWNYM LNNYTKFQIA
60 70 80 90 100
TWGSLIVHEA LYFLFCLPGF LFQFIPYMKK YKIQKDKPET WENQWKCFKV
110 120 130 140 150
LLFNHFCIQL PLICGTYYFT EYFNIPYDWE RMPRWYFLLA RCFGCAVIED
160 170 180 190 200
TWHYFLHRLL HHKRIYKYIH KVHHEFQAPF GMEAEYAHPL ETLILGTGFF
210 220 230 240 250
IGIVLLCDHV ILLWAWVTIR LLETIDVHSG YDIPLNPLNL IPFYAGSRHH
260 270 280 290
DFHHMNFIGN YASTFTWWDR IFGTDSQYNA YNEKRKKFEK KTE
Length:293
Mass (Da):35,216
Last modified:November 1, 1997 - v1
Checksum:iD88E0DDBE85DE0BF
GO
Isoform 2 (identifier: Q15800-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-131: Missing.

Show »
Length:162
Mass (Da):19,470
Checksum:iEFA578AF15EDB678
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti124 – 1241N → S.
Corresponds to variant rs34499452 [ dbSNP | Ensembl ].
VAR_048898

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 131131Missing in isoform 2. 1 PublicationVSP_044585Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U60205 mRNA. Translation: AAC50587.1.
U93162 mRNA. Translation: AAB81566.1.
AK292418 mRNA. Translation: BAF85107.1.
AK295432 mRNA. Translation: BAH12066.1.
AC012504 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04820.1.
CH471056 Genomic DNA. Translation: EAX04821.1.
BC010653 mRNA. Translation: AAH10653.1.
BC107879 mRNA. Translation: AAI07880.1.
CCDSiCCDS3809.1. [Q15800-1]
CCDS43280.1. [Q15800-2]
RefSeqiNP_001017369.1. NM_001017369.2. [Q15800-2]
NP_006736.1. NM_006745.4. [Q15800-1]
XP_005263233.1. XM_005263176.1. [Q15800-1]
UniGeneiHs.105269.

Genome annotation databases

EnsembliENST00000261507; ENSP00000261507; ENSG00000052802. [Q15800-1]
ENST00000393766; ENSP00000377361; ENSG00000052802. [Q15800-2]
GeneIDi6307.
KEGGihsa:6307.
UCSCiuc003ire.3. human. [Q15800-1]

Polymorphism databases

DMDMi2498340.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U60205 mRNA. Translation: AAC50587.1 .
U93162 mRNA. Translation: AAB81566.1 .
AK292418 mRNA. Translation: BAF85107.1 .
AK295432 mRNA. Translation: BAH12066.1 .
AC012504 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04820.1 .
CH471056 Genomic DNA. Translation: EAX04821.1 .
BC010653 mRNA. Translation: AAH10653.1 .
BC107879 mRNA. Translation: AAI07880.1 .
CCDSi CCDS3809.1. [Q15800-1 ]
CCDS43280.1. [Q15800-2 ]
RefSeqi NP_001017369.1. NM_001017369.2. [Q15800-2 ]
NP_006736.1. NM_006745.4. [Q15800-1 ]
XP_005263233.1. XM_005263176.1. [Q15800-1 ]
UniGenei Hs.105269.

3D structure databases

ProteinModelPortali Q15800.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112214. 10 interactions.
IntActi Q15800. 2 interactions.
MINTi MINT-2862749.
STRINGi 9606.ENSP00000261507.

PTM databases

PhosphoSitei Q15800.

Polymorphism databases

DMDMi 2498340.

Proteomic databases

MaxQBi Q15800.
PaxDbi Q15800.
PRIDEi Q15800.

Protocols and materials databases

DNASUi 6307.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261507 ; ENSP00000261507 ; ENSG00000052802 . [Q15800-1 ]
ENST00000393766 ; ENSP00000377361 ; ENSG00000052802 . [Q15800-2 ]
GeneIDi 6307.
KEGGi hsa:6307.
UCSCi uc003ire.3. human. [Q15800-1 ]

Organism-specific databases

CTDi 6307.
GeneCardsi GC04P166249.
HGNCi HGNC:10545. MSMO1.
HPAi HPA056127.
MIMi 607545. gene.
neXtProti NX_Q15800.
PharmGKBi PA34955.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3000.
GeneTreei ENSGT00530000063017.
HOGENOMi HOG000162289.
HOVERGENi HBG051504.
InParanoidi Q15800.
KOi K07750.
OMAi EKQWKCF.
OrthoDBi EOG747PJB.
PhylomeDBi Q15800.
TreeFami TF354294.

Enzyme and pathway databases

UniPathwayi UPA00770 ; UER00756 .
BioCyci MetaCyc:HS00650-MONOMER.
Reactomei REACT_9405. Cholesterol biosynthesis.

Miscellaneous databases

ChiTaRSi MSMO1. human.
GenomeRNAii 6307.
NextBioi 24483.
PROi Q15800.
SOURCEi Search...

Gene expression databases

Bgeei Q15800.
CleanExi HS_SC4MOL.
ExpressionAtlasi Q15800. baseline and differential.
Genevestigatori Q15800.

Family and domain databases

InterProi IPR006694. Fatty_acid_hydroxylase.
[Graphical view ]
Pfami PF04116. FA_hydroxylase. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue."
    Li L., Kaplan J.
    J. Biol. Chem. 271:16927-16933(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Intestine.
  2. Herrmann K.
    Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Retina.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Corpus callosum and Testis.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiMSMO1_HUMAN
AccessioniPrimary (citable) accession number: Q15800
Secondary accession number(s): A8K8Q3
, A8MYF6, D3DP32, Q32Q24
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: October 29, 2014
This is version 132 of the entry and version 1 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 4
    Human chromosome 4: 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