Aliases for SAMD8 Gene

Aliases for SAMD8 Gene

  • Sterile Alpha Motif Domain Containing 8 2 3 5
  • Ceramide Phosphoethanolamine Synthase 2 3 4
  • SMSr 2 3 4
  • Sterile Alpha Motif Domain-Containing Protein 8 3 4
  • Sphingomyelin Synthase-Related Protein 1 3 4
  • SAM Domain-Containing Protein 8 3 4
  • Sphingomyelin Synthase Related 2 3
  • CPE Synthase 3 4
  • Epididymis Secretory Sperm Binding Protein Li 181mP 3
  • Epididymis Luminal Protein 177 3
  • HEL-S-181mP 3
  • EC 2.7.8.- 4
  • FLJ25082 2
  • HEL-177 3
  • SAMD8 5

External Ids for SAMD8 Gene

Previous GeneCards Identifiers for SAMD8 Gene

  • GC10P076216
  • GC10P076541
  • GC10P076859
  • GC10P070869

Summaries for SAMD8 Gene

GeneCards Summary for SAMD8 Gene

SAMD8 (Sterile Alpha Motif Domain Containing 8) is a Protein Coding gene. Diseases associated with SAMD8 include Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are sphingomyelin metabolism/ceramide salvage. Gene Ontology (GO) annotations related to this gene include transferase activity. An important paralog of this gene is SGMS1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for SAMD8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SAMD8 Gene

Genomics for SAMD8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SAMD8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAMD8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAMD8

Top Transcription factor binding sites by QIAGEN in the SAMD8 gene promoter:
  • AML1a
  • AREB6
  • FOXF2
  • HOXA5
  • NF-1
  • NF-1/L
  • NRSF form 1
  • NRSF form 2
  • PPAR-gamma1

Genomic Locations for SAMD8 Gene

Genomic Locations for SAMD8 Gene
chr10:75,099,575-75,182,123
(GRCh38/hg38)
Size:
82,549 bases
Orientation:
Plus strand
chr10:76,859,344-76,941,881
(GRCh37/hg19)
Size:
82,538 bases
Orientation:
Plus strand

Genomic View for SAMD8 Gene

Genes around SAMD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAMD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SAMD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAMD8 Gene

Post-translational modifications for SAMD8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SAMD8 Gene

Domains & Families for SAMD8 Gene

Gene Families for SAMD8 Gene

Protein Domains for SAMD8 Gene

InterPro:
Blocks:
  • Sterile alpha motif SAM
ProtoNet:

Suggested Antigen Peptide Sequences for SAMD8 Gene

GenScript: Design optimal peptide antigens:
  • Sterile alpha motif domain-containing protein 8 (SAMD8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96LT4

UniProtKB/Swiss-Prot:

SAMD8_HUMAN :
  • The SAM domain is required to retain SMAD8 in the endoplasmic reticulum.
  • Belongs to the sphingomyelin synthase family.
Domain:
  • The SAM domain is required to retain SMAD8 in the endoplasmic reticulum.
Family:
  • Belongs to the sphingomyelin synthase family.
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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + N-hexadecanoylsphinganine = a 1,2-diacyl-sn-glycerol + N-hexadecanoyl-sphinganine-1-phosphoethanolamine; Xref=Rhea:RHEA:42128, ChEBI:CHEBI:17815, ChEBI:CHEBI:64612, ChEBI:CHEBI:67042, ChEBI:CHEBI:78654; Evidence={ECO:0000269|PubMed:19506037};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + N-hexadecanoyl-4-hydroxysphinganine = a 1,2-diacyl-sn-glycerol + N-hexadecanoyl-4-hydroxysphinganine-1-phosphoethanolamine; Xref=Rhea:RHEA:42144, ChEBI:CHEBI:17815, ChEBI:CHEBI:64612, ChEBI:CHEBI:65107, ChEBI:CHEBI:78656; Evidence={ECO:0000269|PubMed:19506037};.

Enzyme Numbers (IUBMB) for SAMD8 Gene

Phenotypes From GWAS Catalog for SAMD8 Gene

Gene Ontology (GO) - Molecular Function for SAMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002950 ceramide phosphoethanolamine synthase activity TAS --
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
GO:0016740 transferase activity IEA --
GO:0033188 sphingomyelin synthase activity IBA 21873635
genes like me logo Genes that share ontologies with SAMD8: view
genes like me logo Genes that share phenotypes with SAMD8: view

Animal Models for SAMD8 Gene

MGI Knock Outs for SAMD8:

Animal Model Products

CRISPR Products

miRNA for SAMD8 Gene

miRTarBase miRNAs that target SAMD8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAMD8

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAMD8 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
cytosol 4
golgi apparatus 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SAMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol IDA --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SAMD8: view

Pathways & Interactions for SAMD8 Gene

PathCards logo

SuperPathways 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

Gene Ontology (GO) - Biological Process for SAMD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006686 sphingomyelin biosynthetic process NAS 14685263
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0046513 ceramide biosynthetic process IEA,IDA 19506037
genes like me logo Genes that share ontologies with SAMD8: view

No data available for SIGNOR curated interactions for SAMD8 Gene

Drugs & Compounds for SAMD8 Gene

(40) Additional Compounds for SAMD8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LysoSM(d18:0)
  • Lysosphingomyelin
  • SM(D18:0/0:0)
  • Sphinganine-1-phosphocholine
  • Sphingomyelin(D18:0/0:0)
LysoSM(d18:1)
  • Sphing-4-enine-1-phosphocholine
  • Sphingosyl-phosphocholine
  • Sphingosylphosphocholine
  • C18-Sphingosine phosphocholine
  • D-erythro-Sphingosylphosphorylcholine
1670-26-4
SM(d16:1/24:1(15Z))
  • SPH(D16:1/24:1(15Z))
  • Sphingomyelin (D16:1/24:1(15Z))
SM(d17:1/24:0)
  • SPH(D17:1/24:0)
  • Sphingomyelin (D17:1/24:0)
SM(d17:1/24:1(15Z))
  • SPH(D17:1/24:1(15Z))
  • Sphingomyelin (D17:1/24:1(15Z))
genes like me logo Genes that share compounds with SAMD8: view

Transcripts for SAMD8 Gene

mRNA/cDNA for SAMD8 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAMD8

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

Expression for SAMD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SAMD8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SAMD8 Gene

This gene is overexpressed in Breast (52.9) and Heart (16.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SAMD8 Gene



Protein tissue co-expression partners for SAMD8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SAMD8

SOURCE GeneReport for Unigene cluster for SAMD8 Gene:

Hs.744986

Evidence on tissue expression from TISSUES for SAMD8 Gene

  • Lung(4.2)
  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with SAMD8: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAMD8 Gene

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 30 31
  • 99.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SAMD8 30 31
  • 94.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SAMD8 30 31
  • 94.86 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SAMD8 31
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Samd8 30 17 31
  • 91.97 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SAMD8 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Samd8 30
  • 89 (n)
Chicken
(Gallus gallus)
Aves SAMD8 30 31
  • 80.64 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SAMD8 31
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia samd8 30
  • 74.53 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:162183 30
  • 63.73 (n)
SAMD8 31
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005884 30
  • 55.88 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta SMSr 30 31
  • 55.15 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F53B1.2 30 31
  • 53.52 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3111 30
Species where no ortholog for SAMD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for SAMD8: view image

Paralogs for SAMD8 Gene

Paralogs for SAMD8 Gene

(3) SIMAP similar genes for SAMD8 Gene using alignment to 2 proteins:

  • SAMD8_HUMAN
  • Q5JSC9_HUMAN
genes like me logo Genes that share paralogs with SAMD8: view

Variants for SAMD8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAMD8 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
780870 Benign: not provided 75,103,972(+) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
786165 Benign: not provided 75,103,934(+) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SAMD8 Gene

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

Variant ID Type Subtype PubMed ID
dgv927n100 CNV gain 25217958
esv2671037 CNV deletion 23128226
esv3623846 CNV loss 21293372
esv997196 CNV deletion 20482838
nsv473415 CNV novel sequence insertion 20440878
nsv520500 CNV loss 19592680
nsv7199 CNV insertion 18451855
nsv831913 CNV loss 17160897

Variation tolerance for SAMD8 Gene

Residual Variation Intolerance Score: 28.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAMD8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAMD8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMD8 Gene

Disorders for SAMD8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SAMD8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hereditary sensory and autonomic neuropathy type 1
  • hsan1
- elite association - COSMIC cancer census association via MalaCards
Search SAMD8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SAMD8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SAMD8: view

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

Publications for SAMD8 Gene

  1. Sphingomyelin synthase-related protein SMSr is a suppressor of ceramide-induced mitochondrial apoptosis. (PMID: 24259670) Tafesse FG … Holthuis JC (Journal of cell science 2014) 2 3
  2. Sphingomyelin synthase-related protein SMSr controls ceramide homeostasis in the ER. (PMID: 19506037) Vacaru AM … Holthuis JC (The Journal of cell biology 2009) 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 (American journal of human genetics 2006) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Identification of a family of animal sphingomyelin synthases. (PMID: 14685263) Huitema K … Holthuis JC (The EMBO journal 2004) 3 4

Products for SAMD8 Gene

Sources for SAMD8 Gene