Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SAMD8 Gene

Aliases for SAMD8 Gene

  • Sterile Alpha Motif Domain Containing 8 2 3
  • Ceramide Phosphoethanolamine Synthase 2 3 4
  • SMSr 3 4 6
  • Sterile Alpha Motif Domain-Containing Protein 8 3 4
  • SAM Domain-Containing Protein 8 3 4
  • Sphingomyelin Synthase Related 2 3
  • CPE Synthase 3 4
  • Sphingomyelin Synthase-Related Protein 1 3
  • Epididymis Luminal Protein 177 3
  • EC 2.7.8.- 4
  • HEL-177 3

External Ids for SAMD8 Gene

Summaries for SAMD8 Gene

GeneCards Summary for SAMD8 Gene

SAMD8 (Sterile Alpha Motif Domain Containing 8) is a Protein Coding gene. Among its related pathways are sphingomyelin metabolism/ceramide salvage. GO annotations related to this gene include transferase activity. An important paralog of this gene is SGMS1.

UniProtKB/Swiss-Prot for SAMD8 Gene

  • Sphingomyelin synthases synthesize sphingolipids through transfer of a phosphatidyl head group on to the primary hydroxyl of ceramide. SAMD8 is an endoplasmic reticulum (ER) transferase that has no sphingomyelin synthase activity but can convert phosphatidylethanolamine (PE) and ceramide to ceramide phosphoethanolamine (CPE) albeit with low product yield. Appears to operate as a ceramide sensor to control ceramide homeostasis in the endoplasmic reticulum rather than a converter of ceramides. Seems to be critical for the integrity of the early secretory pathway.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAMD8 Gene

Genomics for SAMD8 Gene

Genomic Location for SAMD8 Gene

Start:
75,099,586 bp from pter
End:
75,182,123 bp from pter
Size:
82,538 bases
Orientation:
Plus strand

Genomic View for SAMD8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SAMD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMD8 Gene

Regulatory Elements for SAMD8 Gene

Proteins for SAMD8 Gene

  • Protein details for SAMD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96LT4-SAMD8_HUMAN
    Recommended name:
    Sphingomyelin synthase-related protein 1
    Protein Accession:
    Q96LT4
    Secondary Accessions:
    • Q5JSC5
    • Q5JSC8
    • Q66K52

    Protein attributes for SAMD8 Gene

    Size:
    415 amino acids
    Molecular mass:
    48321 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH80593.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SAMD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAMD8 Gene

Proteomics data for SAMD8 Gene at MOPED

Post-translational modifications for SAMD8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SAMD8 Gene

No data available for DME Specific Peptides for SAMD8 Gene

Domains for SAMD8 Gene

Gene Families for SAMD8 Gene

HGNC:
  • SAMD :Sterile alpha motif (SAM) domain containing

Protein Domains for SAMD8 Gene

UniProtKB/Swiss-Prot:

SAMD8_HUMAN
Domain:
  • The SAM domain is required to retain SMAD8 in the endoplasmic reticulum:
    • Q96LT4
  • Contains 1 SAM (sterile alpha motif) domain.:
    • Q96LT4
Family:
  • Belongs to the sphingomyelin synthase family.:
    • Q96LT4
genes like me logo Genes that share domains with SAMD8: view

Function for SAMD8 Gene

Molecular function for SAMD8 Gene

UniProtKB/Swiss-Prot Function: Sphingomyelin synthases synthesize sphingolipids through transfer of a phosphatidyl head group on to the primary hydroxyl of ceramide. SAMD8 is an endoplasmic reticulum (ER) transferase that has no sphingomyelin synthase activity but can convert phosphatidylethanolamine (PE) and ceramide to ceramide phosphoethanolamine (CPE) albeit with low product yield. Appears to operate as a ceramide sensor to control ceramide homeostasis in the endoplasmic reticulum rather than a converter of ceramides. Seems to be critical for the integrity of the early secretory pathway.

Enzyme Numbers (IUBMB) for SAMD8 Gene

Gene Ontology (GO) - Molecular Function for SAMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with SAMD8: view

Phenotypes for SAMD8 Gene

GenomeRNAi human phenotypes for SAMD8:
genes like me logo Genes that share phenotypes with SAMD8: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for SAMD8 Gene

Localization for SAMD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAMD8 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SAMD8 Gene COMPARTMENTS Subcellular localization image for SAMD8 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SAMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane NAS 14685263
GO:0030176 integral component of endoplasmic reticulum membrane IDA 19506037
genes like me logo Genes that share ontologies with SAMD8: view

Pathways for SAMD8 Gene

genes like me logo Genes that share pathways with SAMD8: view

Pathways by source for SAMD8 Gene

1 BioSystems pathway for SAMD8 Gene

Interacting Proteins for SAMD8 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000438042%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000438042 Q96LT4-SAMD8_HUMAN for SAMD8 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for SAMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006686 sphingomyelin biosynthetic process NAS 14685263
GO:0046513 ceramide biosynthetic process IDA 19506037
GO:2000303 regulation of ceramide biosynthetic process IDA 19506037
genes like me logo Genes that share ontologies with SAMD8: view

Compounds for SAMD8 Gene

(40) HMDB Compounds for SAMD8 Gene

Compound Synonyms Cas Number PubMed IDs
LysoSM(d18:0)
  • sphinganine-1-phosphocholine
Not Available
LysoSM(d18:1)
  • C18-Sphingosine phosphocholine
1670-26-4
SM(d16:1/24:1(15Z))
  • Sphingomyelin (d16:1/24:1(15Z))
Not Available
SM(d17:1/24:0)
  • Sphingomyelin (d17:1/24:0)
Not Available
SM(d17:1/24:1(15Z))
  • Sphingomyelin (d17:1/24:1(15Z))
Not Available
genes like me logo Genes that share compounds with SAMD8: view

Transcripts for SAMD8 Gene

Unigene Clusters for SAMD8 Gene

Sterile alpha motif domain containing 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SAMD8 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2:

Relevant External Links for SAMD8 Gene

GeneLoc Exon Structure for
SAMD8
ECgene alternative splicing isoforms for
SAMD8

Expression for SAMD8 Gene

mRNA expression in normal human tissues for SAMD8 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SAMD8 Gene

SOURCE GeneReport for Unigene cluster for SAMD8 Gene Hs.744986

genes like me logo Genes that share expressions with SAMD8: view

Orthologs for SAMD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SAMD8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAMD8 36
  • 99.89 (n)
  • 100 (a)
SAMD8 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SAMD8 36
  • 94.94 (n)
  • 97.59 (a)
SAMD8 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAMD8 36
  • 94.86 (n)
  • 98.07 (a)
SAMD8 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Samd8 36
  • 91.97 (n)
  • 95.66 (a)
Samd8 16
Samd8 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SAMD8 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAMD8 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Samd8 36
  • 89 (n)
  • 94.46 (a)
chicken
(Gallus gallus)
Aves SAMD8 36
  • 80.64 (n)
  • 90.12 (a)
SAMD8 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAMD8 37
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia samd8 36
  • 74.53 (n)
  • 83.29 (a)
zebrafish
(Danio rerio)
Actinopterygii SAMD8 37
  • 48 (a)
OneToOne
zgc:162183 36
  • 63.73 (n)
  • 68.87 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005884 36
  • 55.88 (n)
  • 54.64 (a)
fruit fly
(Drosophila melanogaster)
Insecta SMSr 36
  • 55.15 (n)
  • 54.38 (a)
SMSr 37
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F53B1.2 36
  • 53.52 (n)
  • 50.39 (a)
F53B1.2 37
  • 40 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3111 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 48 (a)
OneToOne
Species with no ortholog for SAMD8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SAMD8 Gene

ENSEMBL:
Gene Tree for SAMD8 (if available)
TreeFam:
Gene Tree for SAMD8 (if available)

Paralogs for SAMD8 Gene

Paralogs for SAMD8 Gene

Selected SIMAP similar genes for SAMD8 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SAMD8: view

Variants for SAMD8 Gene

Sequence variations from dbSNP and Humsavar for SAMD8 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1049361 -- 75,182,027(+) TGATT(C/T)TAAAT utr-variant-3-prime
rs1910870 -- 75,179,584(+) TGTTT(A/T)AACTA utr-variant-3-prime
rs1989667 -- 75,180,458(-) CCGAG(C/T)AGCTG utr-variant-3-prime
rs1995569 -- 75,168,391(-) AGCAT(C/G)GTTGT intron-variant
rs1995570 -- 75,168,362(-) ATGAC(A/G)GAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SAMD8 Gene

Variant ID Type Subtype PubMed ID
nsv7199 CNV Insertion 18451855
nsv831913 CNV Loss 17160897
nsv520500 CNV Loss 19592680
esv997196 CNV Deletion 20482838
esv2671037 CNV Deletion 23128226

Relevant External Links for SAMD8 Gene

HapMap Linkage Disequilibrium report
SAMD8

Disorders for SAMD8 Gene

Relevant External Links for SAMD8

Genetic Association Database (GAD)
SAMD8
Human Genome Epidemiology (HuGE) Navigator
SAMD8
genes like me logo Genes that share disorders with SAMD8: view

No data available for UniProtKB/Swiss-Prot for SAMD8 Gene

Publications for SAMD8 Gene

  1. Identification of a family of animal sphingomyelin synthases. (PMID: 14685263) Huitema K. … Holthuis J.C. (EMBO J. 2004) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 49
  4. Sphingomyelin synthase-related protein SMSr controls ceramide homeostasis in the ER. (PMID: 19506037) Vacaru A.M. … Holthuis J.C. (J. Cell Biol. 2009) 3 4
  5. Sphingomyelin synthase-related protein SMSr is a suppressor of ceramide-induced mitochondrial apoptosis. (PMID: 24259670) Tafesse F.G. … Holthuis J.C. (J. Cell. Sci. 2014) 2 3

Products for SAMD8 Gene

Sources for SAMD8 Gene

Back to Top

Content