SPTSSB - serine palmitoyltransferase small subunit B Gene

Also Known as ADMP; SSSPTB; C3orf57

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 165679

About SPTSSB

Cytogenetic location: 3q26.1 Genomic coordinates (GRCh38): 3:161,344,798-161,371,517 (from NCBI)

This gene has 4 transcripts (splice variants), 189 orthologues and 1 paralogue. Biased expression in stomach (RPKM 17.1), skin (RPKM 13.9) and 5 other tissues.

Summary

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

SPTSSB Products (2)

mRNA Protein Name
NM_001040100.2 NP_001035189.1 serine palmitoyltransferase small subunit B
NM_001320679.2 NP_001307608.1 serine palmitoyltransferase small subunit B
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19416851 GOA
contributes to serine C-palmitoyltransferase activity IDA
IDA: Inferred from direct assay
19416851 GOA
Biological Process GO Annotation Evidence References Source
involved in sphingosine biosynthetic process IDA
IDA: Inferred from direct assay
19416851 GOA
Cellular Component GO Annotation Evidence References Source
part of serine palmitoyltransferase complex IDA
IDA: Inferred from direct assay
19416851 GOA
part of serine palmitoyltransferase complex IPI
IPI: Inferred from physical interaction
19416851 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

SPTSSB Protein Structure

SPT_ssu-like

SPT_ssu-like: Small subunit of serine palmitoyltransferase-like (6 - 62)

  • 0
  • 76 a.a.
Protein Preferred Names Protein Names

serine palmitoyltransferase small subunit B

  • androgen down regulated in mouse prostate

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]

Neuropathy, Hereditary Sensory And Autonomic, Type Ia
  • HSAN1A

  • Hsan Ia

  • Hsan1

  • Hsn Ia

  • Hereditary Sensory And Autonomic Neuropathy Type 1a

  • Neuropathy, Hereditary Sensory And Autonomic, Type 1a

  • Neuropathy, Hereditary Sensory, Type Ia

  • Hsn1a

  • Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a

  • Hereditary Sensory And Autonomic Neuropathy Type Ia

  • Neuropathy, Hereditary Sensory And Autonomic, 1a

  • Hereditary Sensory Neuropathy Type Ia

  • Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a

  • Hsn1

  • Neuropathy, Sensory And Autonomic, Hereditary, Type 1a

  • Hereditary Sensory Autonomic Neuropathy, Type 1

Hereditary Sensory Neuropathy
  • Hereditary Sensory And Autonomic Neuropathy

  • Hereditary Sensory And Autonomic Neuropathies

  • Familial Dysautonomia, Type Ii

  • Hsan

  • Sensory Neuropathy Hereditary

  • Neuropathy, Sensory And Autonomic, Hereditary

  • Neuropathy, Sensory, Hereditary

  • Sensory Neuropathy, Hereditary

  • Charcot-Marie-Tooth Disease

  • Cmt - [Charcot-Marie-Tooth Disease]

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

Orthologs Information

Species Symbol Source ID
Mus musculus SPTSSB MGD MGI:1913433
Felis catus SPTSSB VGNC VGNC:65666
Bos taurus SPTSSB VGNC VGNC:35260
Canis familiaris SPTSSB VGNC VGNC:46782
Rattus norvegicus SPTSSB RGD RGD:2324614
Others SPTSSB NCBI