SAMD8 - sterile alpha motif domain containing 8 Gene

Also Known as SMSr; HEL-177

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 142891

About SAMD8

Cytogenetic location: 10q22.2 Genomic coordinates (GRCh38): 10:75,099,593-75,182,123 (from NCBI)

This gene has 6 transcripts (splice variants), 211 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 15.2), testis (RPKM 8.3) and 24 other tissues.

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]

SAMD8 Products (2)

mRNA Protein Name
NM_001174156.2 NP_001167627.1 sphingomyelin synthase-related protein 1 isoform 1
NM_144660.3 NP_653261.1 sphingomyelin synthase-related protein 1 isoform 2

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in ceramide biosynthetic process IDA
IDA: Inferred from direct assay
19506037 GOA
involved in regulation of ceramide biosynthetic process IDA
IDA: Inferred from direct assay
19506037 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
19506037 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SAMD8 Protein Structure

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (11 - 75)

PAP2_C

PAP2_C: PAP2 superfamily C-terminal (292 - 365)

  • 0
  • 100
  • 200
  • 300
  • 415 a.a.
Protein Preferred Names Protein Names

sphingomyelin synthase-related protein 1

  • CPE synthase

Related Diseases

Diseases Alias
Hereditary Sensory And Autonomic Neuropathy Type 1

  • Hereditary Sensory And Autonomic Neuropathy Type I

  • Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

  • Hsan1e

  • Hsan1

  • Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

  • Hsn1e

  • Hsnie

  • Hereditary Sensory Neuropathy Type Ie

  • Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

  • Hereditary Sensory And Autonomic Neuropathy Type Ie

  • Hereditary Sensory And Autonomic Neuropathy Type 1e

  • Hereditary Sensory Neuropathy With Hearing Loss And Dementia

  • Dnmt1-Complex Disorder

  • Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

  • Hsn Ie

  • Hereditary Sensory Autonomic Neuropathy, Type 1

  • Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12430 SAMD8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SAMD8 VGNC VGNC:77109
Bos taurus SAMD8 VGNC VGNC:34276
Mus musculus SAMD8 MGD MGI:1914880
Felis catus SAMD8 VGNC VGNC:64865
Rattus norvegicus SAMD8 RGD RGD:1306447
Canis familiaris SAMD8 VGNC VGNC:45855
Others SAMD8 NCBI