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    SAMD8 sterile alpha motif domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 142891, updated on 11-Apr-2024

    Summary

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    Official Symbol
    SAMD8provided by HGNC
    Official Full Name
    sterile alpha motif domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:26320
    See related
    Ensembl:ENSG00000156671 MIM:611575; AllianceGenome:HGNC:26320
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SMSr; HEL-177
    Summary
    Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in cytosol and endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 15.2), testis (RPKM 8.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q22.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (75099593..75182123)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (75973091..76055617)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (76871414..76941881)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3606 Neighboring gene dual specificity phosphatase 29 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:76817979-76818530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:76829139-76829638 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:76836023-76836606 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:76839152-76839713 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:76839714-76840274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:76842102-76842602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:76844610-76845110 Neighboring gene peptidylprolyl isomerase A pseudogene 13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:76863200-76864044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:76864045-76864889 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:76865735-76866578 Neighboring gene dual specificity phosphatase 13B Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:76870224-76871173 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:76871174-76872122 Neighboring gene dual specificity phosphatase 13A Neighboring gene uncharacterized LOC124902460 Neighboring gene ribosomal protein S26 pseudogene 42 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:76898750-76898917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:76901445-76901944 Neighboring gene MPRA-validated peak1024 silencer Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:76966815-76967564 Neighboring gene Sharpr-MPRA regulatory region 10124 Neighboring gene Sharpr-MPRA regulatory region 7934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:76982209-76982964 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:76983719-76984474 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:76985985-76986738 Neighboring gene voltage dependent anion channel 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2511 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2513 Neighboring gene Sharpr-MPRA regulatory region 13796 Neighboring gene catechol-O-methyltransferase domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Sphingomyelin synthase-related protein generates diacylglycerol via the hydrolysis of glycerophospholipids in the absence of ceramide. Murakami C, et al. J Biol Chem, 2021 Jan-Jun. PMID 33621517, Free PMC Article
    2. Sphingomyelin synthase-related protein SMSr is a suppressor of ceramide-induced mitochondrial apoptosis. Tafesse FG, et al. J Cell Sci, 2014 Jan 15. PMID 24259670
    3. Ceramide phosphoethanolamine synthase SMSr is a target of caspase-6 during apoptotic cell death. Cabukusta B, et al. Biosci Rep, 2017 Aug 31. PMID 28659495, Free PMC Article
    4. Diacylglycerol kinase ζ interacts with sphingomyelin synthase 1 and sphingomyelin synthase-related protein via different regions. Furuta M, et al. FEBS Open Bio, 2023 Jul. PMID 37166445, Free PMC Article
    5. Sphingomyelin synthase-related protein SMSr controls ceramide homeostasis in the ER. Vacaru AM, et al. J Cell Biol, 2009 Jun 15. PMID 19506037, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sphingomyelin synthase-related protein SMSr is a phosphatidylethanolamine phospholipase C that promotes nonalcoholic fatty liver disease.
      Title: Sphingomyelin synthase-related protein SMSr is a phosphatidylethanolamine phospholipase C that promotes nonalcoholic fatty liver disease.
    2. Diacylglycerol kinase zeta interacts with sphingomyelin synthase 1 and sphingomyelin synthase-related protein via different regions.
      Title: Diacylglycerol kinase ζ interacts with sphingomyelin synthase 1 and sphingomyelin synthase-related protein via different regions.
    3. Sphingomyelin synthase-related protein generates diacylglycerol via the hydrolysis of glycerophospholipids in the absence of ceramide.
      Title: Sphingomyelin synthase-related protein generates diacylglycerol via the hydrolysis of glycerophospholipids in the absence of ceramide.
    4. findings underscore a role of SMSr as negative regulator of ceramide-induced cell death
      Title: Ceramide phosphoethanolamine synthase SMSr is a target of caspase-6 during apoptotic cell death.
    5. These results indicate a primary role of SMSr in monitoring endoplasmic reticulum ceramide levels.
      Title: Sphingomyelin synthase-related protein SMSr is a suppressor of ceramide-induced mitochondrial apoptosis.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25082

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ceramide cholinephosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ceramide phosphoethanolamine synthase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables sphingomyelin synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ceramide phosphoethanolamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of ceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sphingomyelin biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    sphingomyelin synthase-related protein 1
    Names
    CPE synthase
    HEL-S-181mP
    SAM domain-containing protein 8
    ceramide phosphoethanolamine synthase
    epididymis luminal protein 177
    epididymis secretory sperm binding protein Li 181mP
    sphingomyelin synthase related
    sterile alpha motif domain-containing protein 8
    NP_001167627.1
    NP_653261.1
    XP_005269598.1
    XP_011537614.1
    XP_016871227.1
    XP_047280596.1
    XP_047280597.1
    XP_054220845.1
    XP_054220846.1
    XP_054220847.1
    XP_054220848.1
    XP_054220849.1

    NCBI Reference Sequences (RefSeq)

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    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_001174156.2 → NP_001167627.1  sphingomyelin synthase-related protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001167627.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL392111, BC080593
      Consensus CDS
      CCDS53543.1
      UniProtKB/Swiss-Prot
      Q5JSC5, Q5JSC8, Q66K52, Q96LT4
      Related
      ENSP00000438042.1, ENST00000542569.6
      Conserved Domains (2) summary
      cd09515
      Location:9 → 77
      SAM_SGMS1-like; SAM domain of sphingomyelin synthase related subfamily
      pfam14360
      Location:292 → 365
      PAP2_C; PAP2 superfamily C-terminal

    2. NM_144660.3 → NP_653261.1  sphingomyelin synthase-related protein 1 isoform 2

      See identical proteins and their annotated locations for NP_653261.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and 3' coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK057811, AL392111, BC080593
      Consensus CDS
      CCDS7347.1
      UniProtKB/TrEMBL
      A0A3B3IT94, V9HVY4
      Related
      ENSP00000361772.3, ENST00000372687.4
      Conserved Domains (2) summary
      cd09515
      Location:9 → 77
      SAM_SGMS1-like; SAM domain of sphingomyelin synthase related subfamily
      cl00474
      Location:292 → 314
      PAP2_like; PAP2_like proteins, a super-family of histidine phosphatases and vanadium haloperoxidases, includes type 2 phosphatidic acid phosphatase or lipid phosphate phosphatase (LPP), Glucose-6-phosphatase, Phosphatidylglycerophosphatase B and bacterial acid ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      75099593..75182123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539312.4 → XP_011537614.1  sphingomyelin synthase-related protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011537614.1

      UniProtKB/Swiss-Prot
      Q5JSC5, Q5JSC8, Q66K52, Q96LT4
      Conserved Domains (2) summary
      cd09515
      Location:9 → 77
      SAM_SGMS1-like; SAM domain of sphingomyelin synthase related subfamily
      pfam14360
      Location:292 → 365
      PAP2_C; PAP2 superfamily C-terminal

    2. XM_005269541.6 → XP_005269598.1  sphingomyelin synthase-related protein 1 isoform X2

      See identical proteins and their annotated locations for XP_005269598.1

      UniProtKB/Swiss-Prot
      Q5JSC5, Q5JSC8, Q66K52, Q96LT4
      Conserved Domains (2) summary
      cd09515
      Location:9 → 77
      SAM_SGMS1-like; SAM domain of sphingomyelin synthase related subfamily
      pfam14360
      Location:292 → 365
      PAP2_C; PAP2 superfamily C-terminal

    3. XM_047424641.1 → XP_047280597.1  sphingomyelin synthase-related protein 1 isoform X3

    4. XM_047424640.1 → XP_047280596.1  sphingomyelin synthase-related protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q5JSC5, Q5JSC8, Q66K52, Q96LT4

    5. XM_017015738.3 → XP_016871227.1  sphingomyelin synthase-related protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      75973091..76055617
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364873.1 → XP_054220848.1  sphingomyelin synthase-related protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q5JSC5, Q5JSC8, Q66K52, Q96LT4

    2. XM_054364871.1 → XP_054220846.1  sphingomyelin synthase-related protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q5JSC5, Q5JSC8, Q66K52, Q96LT4

    3. XM_054364874.1 → XP_054220849.1  sphingomyelin synthase-related protein 1 isoform X3

    4. XM_054364872.1 → XP_054220847.1  sphingomyelin synthase-related protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q5JSC5, Q5JSC8, Q66K52, Q96LT4

    5. XM_054364870.1 → XP_054220845.1  sphingomyelin synthase-related protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LT4.2 GenPept UniProtKB/Swiss-Prot:Q96LT4

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