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

Gene ID: 142891, updated on 14-Nov-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 membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 15.2), testis (RPKM 8.3) and 24 other tissues See more
Orthologs
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Genomic context

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See SAMD8 in Genome Data Viewer
Location:
10q22.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (75099593..75182123)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (75973091..76055617)
RS_2024_09 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 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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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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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)

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 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
    UniProtKB/TrEMBL
    A0A5F9ZGS6
    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_2024_08

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
    UniProtKB/TrEMBL
    A0A5F9ZGS6
    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
    UniProtKB/TrEMBL
    A0A5F9ZGS6
    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

    UniProtKB/TrEMBL
    A0A5F9ZGS6

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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