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

Gene ID: 142891, updated on 22-Sep-2022

Summary

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
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Genomic context

See SAMD8 in Genome Data Viewer
Location:
10q22.2
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (75099593..75182123)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (75985170..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 dual specificity phosphatase 29 Neighboring gene peptidylprolyl isomerase A pseudogene 13 Neighboring gene dual specificity phosphatase 13 Neighboring gene uncharacterized LOC124902460 Neighboring gene ribosomal protein S26 pseudogene 42 Neighboring gene Sharpr-MPRA regulatory region 10124 Neighboring gene Sharpr-MPRA regulatory region 7934 Neighboring gene voltage dependent anion channel 2

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables ceramide phosphoethanolamine synthase activity TAS
Traceable Author Statement
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
PubMed 
Component Evidence Code Pubs
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 

General protein information

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

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_001174156.2NP_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
    Q66K52, Q96LT4
    Related
    ENSP00000438042.1, ENST00000542569.6
    Conserved Domains (2) summary
    cd09515
    Location:977
    SAM_SGMS1-like; SAM domain of sphingomyelin synthase related subfamily
    pfam14360
    Location:292365
    PAP2_C; PAP2 superfamily C-terminal
  2. NM_144660.3NP_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/Swiss-Prot
    Q96LT4
    UniProtKB/TrEMBL
    V9HVY4
    Related
    ENSP00000361772.3, ENST00000372687.4
    Conserved Domains (2) summary
    cd09515
    Location:977
    SAM_SGMS1-like; SAM domain of sphingomyelin synthase related subfamily
    cl00474
    Location:292314
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011539312.4XP_011537614.1  sphingomyelin synthase-related protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011537614.1

    UniProtKB/Swiss-Prot
    Q66K52, Q96LT4
    Conserved Domains (2) summary
    cd09515
    Location:977
    SAM_SGMS1-like; SAM domain of sphingomyelin synthase related subfamily
    pfam14360
    Location:292365
    PAP2_C; PAP2 superfamily C-terminal
  2. XM_005269541.6XP_005269598.1  sphingomyelin synthase-related protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005269598.1

    UniProtKB/Swiss-Prot
    Q66K52, Q96LT4
    Conserved Domains (2) summary
    cd09515
    Location:977
    SAM_SGMS1-like; SAM domain of sphingomyelin synthase related subfamily
    pfam14360
    Location:292365
    PAP2_C; PAP2 superfamily C-terminal
  3. XM_047424641.1XP_047280597.1  sphingomyelin synthase-related protein 1 isoform X3

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

    UniProtKB/Swiss-Prot
    Q66K52
  5. XM_017015738.3XP_016871227.1  sphingomyelin synthase-related protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    75985170..76055617
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)