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SGMS1 sphingomyelin synthase 1 [ Homo sapiens (human) ]

Gene ID: 259230, updated on 13-Mar-2020

Summary

Official Symbol
SGMS1provided by HGNC
Official Full Name
sphingomyelin synthase 1provided by HGNC
Primary source
HGNC:HGNC:29799
See related
Ensembl:ENSG00000198964 MIM:611573
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MOB; MOB1; SMS1; TMEM23; hmob33
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 9.1), lung (RPKM 8.8) and 25 other tissues See more
Orthologs

Genomic context

See SGMS1 in Genome Data Viewer
Location:
10q11.23
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (50305600..50623956, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (52065345..52383737, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene N-acylsphingosine amidohydrolase 2 Neighboring gene dynein cytoplasmic 1 intermediate chain 2 pseudogene 1 Neighboring gene RNA, U7 small nuclear 107 pseudogene Neighboring gene SGMS1 antisense RNA 1 Neighboring gene SHQ1, H/ACA ribonucleoprotein assembly factor pseudogene 1 Neighboring gene BEN domain containing 3 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC17342

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ceramide cholinephosphotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide cholinephosphotransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ceramide phosphoethanolamine synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
kinase activity IEA
Inferred from Electronic Annotation
more info
 
sphingomyelin synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingomyelin synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
sphingomyelin synthase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
ceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of intrinsic apoptotic signaling pathway TAS
Traceable Author Statement
more info
PubMed 
sphingolipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
sphingomyelin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingomyelin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi trans cisterna IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
integral component of Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
phosphatidylcholine:ceramide cholinephosphotransferase 1
Names
medulla oblongata-derived protein
protein Mob
transmembrane protein 23
NP_671512.1
XP_005269732.1
XP_011537885.1
XP_011537886.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_147156.4NP_671512.1  phosphatidylcholine:ceramide cholinephosphotransferase 1

    See identical proteins and their annotated locations for NP_671512.1

    Status: REVIEWED

    Source sequence(s)
    AY332650, BC042899, BM141853, BM764008
    Consensus CDS
    CCDS7240.1
    UniProtKB/Swiss-Prot
    Q86VZ5
    UniProtKB/TrEMBL
    D3DWC4
    Related
    ENSP00000354829.2, ENST00000361781.7
    Conserved Domains (2) summary
    cd09514
    Location:172
    SAM_SGMS1; SAM domain of sphingomyelin synthase
    pfam14360
    Location:276349
    PAP2_C; PAP2 superfamily C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    50305600..50623956 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269675.1XP_005269732.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_005269732.1

    UniProtKB/Swiss-Prot
    Q86VZ5
    UniProtKB/TrEMBL
    D3DWC4
    Conserved Domains (2) summary
    cd09514
    Location:172
    SAM_SGMS1; SAM domain of sphingomyelin synthase
    pfam14360
    Location:276349
    PAP2_C; PAP2 superfamily C-terminal
  2. XM_011539583.2XP_011537885.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011537885.1

    UniProtKB/Swiss-Prot
    Q86VZ5
    UniProtKB/TrEMBL
    D3DWC4
    Conserved Domains (2) summary
    cd09514
    Location:172
    SAM_SGMS1; SAM domain of sphingomyelin synthase
    pfam14360
    Location:276349
    PAP2_C; PAP2 superfamily C-terminal
  3. XM_011539584.3XP_011537886.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X2

    Conserved Domains (2) summary
    cd09514
    Location:172
    SAM_SGMS1; SAM domain of sphingomyelin synthase
    smart00454
    Location:468
    SAM; Sterile alpha motif

RNA

  1. XR_001747078.2 RNA Sequence

    Related
    ENST00000429490.5
  2. XR_945650.3 RNA Sequence

  3. XR_945651.3 RNA Sequence

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