Human Gene SGMS1 (uc009xot.1) Description and Page Index
  Description: Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.
RefSeq Summary (NM_147156): The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.122998.1, BN000143.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000361781.7/ ENSP00000354829.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr10:52,071,022-52,383,737 Size: 312,716 Total Exon Count: 8 Strand: -


Page IndexSequence and LinksGenetic AssociationsCTDRNA-Seq ExpressionMicroarray Expression
Other SpeciesmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:52,071,022-52,383,737)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneNetworkH-INV
HGNCLynxPubMedStanford SOURCETreefamWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SGMS1
CDC HuGE Published Literature: SGMS1
Positive Disease Associations: Lymphocytes , Neutrophils , Pancreatic Neoplasms
Related Studies:
  1. Lymphocytes
    , , . [PubMed 0]
  2. Neutrophils
    , , . [PubMed 0]
  3. Pancreatic Neoplasms
    , , . [PubMed 0]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.35 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 241.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AY280959 - Homo sapiens MOB protein mRNA, complete cds.
AK026683 - Homo sapiens cDNA: FLJ23030 fis, clone LNG01891, highly similar to HSY14155 Homo sapiens mRNA for Hmob33 protein.
AB154421 - Homo sapiens SMS1 mRNA for sphingomyelin synthase, complete cds.
AK296233 - Homo sapiens cDNA FLJ59704 complete cds, highly similar to Phosphatidylcholine:ceramide cholinephosphotransferase 1 (EC 2.7.-.-).
AY364088 - Homo sapiens MOB1 (MOB) mRNA, partial cds, alternatively spliced.
AY332650 - Homo sapiens MOB protein (MOB) mRNA, partial cds.
FN908146 - Homo sapiens partial mRNA for sphingomyelin synthase 1 (SGMS1 gene), splice variant 1d.
FN985166 - Homo sapiens partial mRNA for sphingomyelin synthase 1 (SGMS1 gene), splice variant 2b.
KR020022 - Homo sapiens Hum_SGMS1_1a234568, partial sequence.
KR020023 - Homo sapiens Hum_SGMS1_1a8, partial sequence.
AK311737 - Homo sapiens cDNA, FLJ18779.
KR020024 - Homo sapiens Hum_SGMS1_1a67, partial sequence.
KP710936 - Homo sapiens Hum_SGMS1_231ain2, complete sequence.
KP710931 - Homo sapiens Hum_SGMS1_234562, complete sequence.
KX061770 - Homo sapiens isolate SGMS1_22c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061771 - Homo sapiens isolate SGMS1_22d6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061772 - Homo sapiens isolate SGMS1_23c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061773 - Homo sapiens isolate SGMS1_23d6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061774 - Homo sapiens isolate SGMS1_23e6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061775 - Homo sapiens isolate SGMS1_25c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061769 - Homo sapiens isolate SGMS1_1c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061768 - Homo sapiens isolate SGMS1_5p1a6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061767 - Homo sapiens isolate SGMS1_1p1a6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904844 - Homo sapiens isolate SGMS1_25c sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KP710932 - Homo sapiens Hum_SGMS1_23452, complete sequence.
KX904843 - Homo sapiens isolate SGMS1_23e sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061765 - Homo sapiens circSGMS1_233d, complete sequence.
KX904842 - Homo sapiens isolate SGMS1_23d sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KP710933 - Homo sapiens Hum_SGMS1_233in2, complete sequence.
KX904841 - Homo sapiens isolate SGMS1_23c sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KP710934 - Homo sapiens Hum_SGMS1_22ain32, complete sequence.
KP710937 - Homo sapiens Hum_SGMS1_232, complete sequence.
KX904840 - Homo sapiens isolate SGMS1_22d sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904839 - Homo sapiens isolate SGMS1_22c sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
BC042899 - Homo sapiens sphingomyelin synthase 1, mRNA (cDNA clone MGC:17342 IMAGE:4342258), complete cds.
AY312431 - Homo sapiens HSD36 mRNA, complete cds.
FN994181 - Homo sapiens mRNA for sphingomyelin synthase 1 (SGMS1 gene), partial 3'UTR, splice variant 3g.
FN908045 - Homo sapiens mRNA for sphingomyelin synthase 1 (SGMS1 gene), splice variant 3h.
FM210200 - Homo sapiens mRNA for sphingomyelin synthase 1 (SGMS1 gene), splice variant 3e.
FN870365 - Homo sapiens mRNA for sphingomyelin synthase 1 (SGMS1 gene), splice variant 3d.
KP710935 - Homo sapiens Hum_SGMS1_5645, complete sequence.
KR020014 - Homo sapiens Hum_SGMS1_63456, partial sequence.
KX904850 - Homo sapiens isolate SGMS1_5c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX061766 - Homo sapiens circSGMS1_45c6, complete sequence.
KX904849 - Homo sapiens isolate SGMS1_3e6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904848 - Homo sapiens isolate SGMS1_3d6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904847 - Homo sapiens isolate SGMS1_3c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904846 - Homo sapiens isolate SGMS1_2d6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KX904845 - Homo sapiens isolate SGMS1_2c6 sphingomyelin synthase 1 (SGMS1) mRNA, 5' UTR; alternatively spliced.
KP710938 - Homo sapiens Hum_SGMS1_545, complete sequence.
JD453569 - Sequence 434593 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00600 - Sphingolipid metabolism
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: AY364088
UCSC ID: uc009xot.1
RefSeq Accession: NM_147156

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: AY364088.1
exon count: 8CDS single in 3' UTR: no RNA size: 845
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 472.00frame shift in genome: no % Coverage: 100.00
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.