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Q86VZ5

- SMS1_HUMAN

UniProt

Q86VZ5 - SMS1_HUMAN

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Protein
Phosphatidylcholine:ceramide cholinephosphotransferase 1
Gene
SGMS1, MOB, SMS1, TMEM23
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell growth in certain cell types such as HeLa cells. Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide.2 Publications

Catalytic activityi

A ceramide + a phosphatidylcholine = a sphingomyelin + a 1,2-diacyl-sn-glycerol.

Enzyme regulationi

Inhibited by bacterial PC-phospholipase C inhibitor D609.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei291 – 29111 Publication
Active sitei334 – 33411 Publication
Active sitei338 – 33811 Publication

GO - Molecular functioni

  1. ceramide cholinephosphotransferase activity Source: UniProtKB
  2. kinase activity Source: UniProtKB-KW
  3. sphingomyelin synthase activity Source: HGNC

GO - Biological processi

  1. apoptotic process Source: UniProtKB-KW
  2. cell growth Source: HGNC
  3. small molecule metabolic process Source: Reactome
  4. sphingolipid biosynthetic process Source: Reactome
  5. sphingolipid metabolic process Source: Reactome
  6. sphingomyelin biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Biological processi

Apoptosis, Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

BRENDAi2.7.8.27. 2681.
ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylcholine:ceramide cholinephosphotransferase 1 (EC:2.7.8.27)
Alternative name(s):
Medulla oblongata-derived protein
Short name:
Protein Mob
Sphingomyelin synthase 1
Transmembrane protein 23
Gene namesi
Name:SGMS1
Synonyms:MOB, SMS1, TMEM23
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:29799. SGMS1.

Subcellular locationi

Golgi apparatus membrane; Multi-pass membrane protein 3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei142 – 16221Helical; Reviewed prediction
Add
BLAST
Transmembranei190 – 21021Helical; Reviewed prediction
Add
BLAST
Transmembranei221 – 24121Helical; Reviewed prediction
Add
BLAST
Transmembranei282 – 30221Helical; Reviewed prediction
Add
BLAST
Transmembranei310 – 33021Helical; Reviewed prediction
Add
BLAST
Topological domaini331 – 41989Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: Reactome
  2. Golgi trans cisterna Source: MGI
  3. endoplasmic reticulum Source: HGNC
  4. integral component of Golgi membrane Source: UniProtKB
  5. nucleus Source: HGNC
  6. plasma membrane Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi289 – 2891S → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication
Mutagenesisi291 – 2911H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication
Mutagenesisi334 – 3341H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication
Mutagenesisi338 – 3381D → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication

Organism-specific databases

PharmGKBiPA162403042.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 419419Phosphatidylcholine:ceramide cholinephosphotransferase 1
PRO_0000221068Add
BLAST

Proteomic databases

MaxQBiQ86VZ5.
PaxDbiQ86VZ5.
PRIDEiQ86VZ5.

PTM databases

PhosphoSiteiQ86VZ5.

Expressioni

Tissue specificityi

Brain, heart, kidney, liver, muscle and stomach.3 Publications

Gene expression databases

ArrayExpressiQ86VZ5.
BgeeiQ86VZ5.
CleanExiHS_SGMS1.
GenevestigatoriQ86VZ5.

Organism-specific databases

HPAiHPA045191.

Interactioni

Protein-protein interaction databases

BioGridi129227. 3 interactions.
IntActiQ86VZ5. 1 interaction.
MINTiMINT-2879302.
STRINGi9606.ENSP00000354829.

Structurei

3D structure databases

ProteinModelPortaliQ86VZ5.
SMRiQ86VZ5. Positions 1-84.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini13 – 7664SAM
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG259509.
HOGENOMiHOG000233822.
HOVERGENiHBG048216.
InParanoidiQ86VZ5.
KOiK04714.
PhylomeDBiQ86VZ5.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
IPR025749. Sphingomyelin_synth-like_dom.
[Graphical view]
PfamiPF14360. PAP2_C. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q86VZ5-1) [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

MLSASTMKEV VYWSPKKVAD WLLENAMPEY CEPLEHFTGQ DLINLTQEDF    50
KKPPLCRVSS DNGQRLLDMI ETLKMEHHLE AHKNGHANGH LNIGVDIPTP 100
DGSFSIKIKP NGMPNGYRKE MIKIPMPELE RSQYPMEWGK TFLAFLYALS 150
CFVLTTVMIS VVHERVPPKE VQPPLPDTFF DHFNRVQWAF SICEINGMIL 200
VGLWLIQWLL LKYKSIISRR FFCIVGTLYL YRCITMYVTT LPVPGMHFNC 250
SPKLFGDWEA QLRRIMKLIA GGGLSITGSH NMCGDYLYSG HTVMLTLTYL 300
FIKEYSPRRL WWYHWICWLL SVVGIFCILL AHDHYTVDVV VAYYITTRLF 350
WWYHTMANQQ VLKEASQMNL LARVWWYRPF QYFEKNVQGI VPRSYHWPFP 400
WPVVHLSRQV KYSRLVNDT 419
Length:419
Mass (Da):49,208
Last modified:February 16, 2004 - v2
Checksum:i52C2A985E3F27E44
GO
Isoform 2 (identifier: Q86VZ5-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-205: Missing.
     206-214: IQWLLLKYK → MTRMFLNNP

Show »
Length:214
Mass (Da):25,602
Checksum:i1683928AB57C2FB2
GO

Sequence cautioni

The sequence AAH42899.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
The sequence AAP37279.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
The sequence AAQ22363.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
The sequence AAQ82051.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
The sequence AK026683 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
The sequence BAD16809.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.
The sequence CAD79708.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 205205Missing in isoform 2.
VSP_027223Add
BLAST
Alternative sequencei206 – 2149IQWLLLKYK → MTRMFLNNP in isoform 2.
VSP_027224

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti168 – 1681P → L in AAQ82051. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB154421 mRNA. Translation: BAD16809.1. Sequence problems.
AY280959 mRNA. Translation: AAP37279.1. Sequence problems.
AY312431 mRNA. Translation: AAQ82051.1. Sequence problems.
AK026683 mRNA. No translation available.
AC069547 Genomic DNA. No translation available.
AL117341 Genomic DNA. No translation available.
AL596137 Genomic DNA. No translation available.
BC042899 mRNA. Translation: AAH42899.1. Sequence problems.
AY364088 mRNA. Translation: AAR13294.1.
AY332650 mRNA. Translation: AAQ22363.1. Sequence problems.
BN000143 mRNA. Translation: CAD79708.1. Sequence problems.
RefSeqiNP_671512.1. NM_147156.3.
XP_005269732.1. XM_005269675.1.
UniGeneiHs.654698.

Genome annotation databases

EnsembliENST00000361543; ENSP00000355235; ENSG00000198964.
GeneIDi259230.
KEGGihsa:259230.
UCSCiuc001jje.3. human. [Q86VZ5-1]

Polymorphism databases

DMDMi44888473.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB154421 mRNA. Translation: BAD16809.1 . Sequence problems.
AY280959 mRNA. Translation: AAP37279.1 . Sequence problems.
AY312431 mRNA. Translation: AAQ82051.1 . Sequence problems.
AK026683 mRNA. No translation available.
AC069547 Genomic DNA. No translation available.
AL117341 Genomic DNA. No translation available.
AL596137 Genomic DNA. No translation available.
BC042899 mRNA. Translation: AAH42899.1 . Sequence problems.
AY364088 mRNA. Translation: AAR13294.1 .
AY332650 mRNA. Translation: AAQ22363.1 . Sequence problems.
BN000143 mRNA. Translation: CAD79708.1 . Sequence problems.
RefSeqi NP_671512.1. NM_147156.3.
XP_005269732.1. XM_005269675.1.
UniGenei Hs.654698.

3D structure databases

ProteinModelPortali Q86VZ5.
SMRi Q86VZ5. Positions 1-84.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129227. 3 interactions.
IntActi Q86VZ5. 1 interaction.
MINTi MINT-2879302.
STRINGi 9606.ENSP00000354829.

PTM databases

PhosphoSitei Q86VZ5.

Polymorphism databases

DMDMi 44888473.

Proteomic databases

MaxQBi Q86VZ5.
PaxDbi Q86VZ5.
PRIDEi Q86VZ5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361543 ; ENSP00000355235 ; ENSG00000198964 .
GeneIDi 259230.
KEGGi hsa:259230.
UCSCi uc001jje.3. human. [Q86VZ5-1 ]

Organism-specific databases

CTDi 259230.
GeneCardsi GC10M052065.
HGNCi HGNC:29799. SGMS1.
HPAi HPA045191.
MIMi 611573. gene.
neXtProti NX_Q86VZ5.
PharmGKBi PA162403042.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG259509.
HOGENOMi HOG000233822.
HOVERGENi HBG048216.
InParanoidi Q86VZ5.
KOi K04714.
PhylomeDBi Q86VZ5.

Enzyme and pathway databases

BRENDAi 2.7.8.27. 2681.
Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

Miscellaneous databases

ChiTaRSi SGMS1. human.
GeneWikii SGMS1.
GenomeRNAii 259230.
NextBioi 93062.
PROi Q86VZ5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q86VZ5.
Bgeei Q86VZ5.
CleanExi HS_SGMS1.
Genevestigatori Q86VZ5.

Family and domain databases

Gene3Di 1.10.150.50. 1 hit.
InterProi IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
IPR025749. Sphingomyelin_synth-like_dom.
[Graphical view ]
Pfami PF14360. PAP2_C. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view ]
SUPFAMi SSF47769. SSF47769. 1 hit.
PROSITEi PS50105. SAM_DOMAIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells."
    Yamaoka S., Miyaji M., Kitano T., Umehara H., Okazaki T.
    J. Biol. Chem. 279:18688-18693(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Complete cDNA sequence of a novel gene, human mob."
    Yuan H.F., Wang X., Wang D.M., Li H.M., Feng K., Bai C.X., Zhang R., Chen L., Li Y.H., Gao Y.H., Zhen M., Yue W., Xie C., Xie X.Y., Niu L.L., Gao W.J., Zhang J., Cao H., Pei X.T.
    Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Fetal liver.
  3. "A new spermatogenesis-related gene."
    Zhao H., Miao S.Y., Zhang X.D., Liang G., Qiao Y., Wang L.F.
    Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Testis.
  4. "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] (ISOFORM 1).
    Tissue: Lung.
  5. "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].
  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] (ISOFORM 1).
    Tissue: Lymph.
  7. "Human gene MOB: structure specification and aspects of transcriptional activity."
    Vladychenskaya I.P., Dergunova L.V., Dmitrieva V.G., Limborska S.A.
    Gene 338:257-265(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-296 (ISOFORM 2), IDENTIFICATION (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Cerebellum.
  8. "Structure and functional organization of a novel human brain-specific gene MOB encoding a phylogenetically conserved transmembrane protein."
    Vladychenskaya I.P., Dergunova L.V., Limborska S.A., Dmitrieva V.G.
    Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-283 (ISOFORM 1).
  9. "In vitro and in silico analysis of the predicted human MOB gene encoding a phylogenetically conserved transmembrane protein."
    Vladychenskaya I.P., Dergunova L.V., Limborska S.A.
    Biomol. Eng. 18:263-268(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION (ISOFORM 1), TISSUE SPECIFICITY.
  10. "Identification of a family of animal sphingomyelin synthases."
    Huitema K., Van Den Dikkenberg J., Brouwers J.F.H.M., Holthuis J.C.
    EMBO J. 23:33-44(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, ENZYME REGULATION, TOPOLOGY OF C-TERMINUS.
  11. "Adenovirus-mediated overexpression of sphingomyelin synthases 1 and 2 increases the atherogenic potential in mice."
    Dong J., Liu J., Lou B., Li Z., Ye X., Wu M., Jiang X.-C.
    J. Lipid Res. 47:1307-1314(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: OVEREXPRESSION IN MOUSE.
  12. "Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells."
    Tafesse F.G., Huitema K., Hermansson M., van der Poel S., van den Dikkenberg J., Uphoff A., Somerharju P., Holthuis J.C.M.
    J. Biol. Chem. 282:17537-17547(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  13. "The domain responsible for sphingomyelin synthase (SMS) activity."
    Yeang C., Varshney S., Wang R., Zhang Y., Ye D., Jiang X.C.
    Biochim. Biophys. Acta 1781:610-617(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACTIVE SITES, SUBCELLULAR LOCATION, MUTAGENESIS OF SER-289; HIS-291; HIS-334 AND ASP-338.

Entry informationi

Entry nameiSMS1_HUMAN
AccessioniPrimary (citable) accession number: Q86VZ5
Secondary accession number(s): Q68U43, Q6EKK0, Q75SP1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: February 16, 2004
Last modified: September 3, 2014
This is version 106 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

Miscellaneous

Overexpression of the human protein in mouse causes increased non-HDL-sphingomyelin and non-HDL cholesterol levels, decreased HDL-sphingomyelin and HDL-cholesterol levels and increases lipoprotein atherogenic potential.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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