2. Gene
  3. SPTSSA - serine palmitoyltransferase small subunit A Gene

SPTSSA - serine palmitoyltransferase small subunit A Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SSSPTA; C14orf147

Gene ID: 171546 | Gene type: protein coding

About SPTSSA

Cytogenetic location: 14q13.1 Genomic coordinates (GRCh38): 14:34,432,788-34,462,240 (from NCBI)

This gene has 1 transcript (splice variant), 160 orthologues and 1 paralogue. Ubiquitous expression in adrenal (RPKM 46.3), colon (RPKM 28.8) and 23 other tissues.

Summary

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA 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]

SPTSSA Products(1)

mRNA Protein Name
NM_138288.4 NP_612145.2 serine palmitoyltransferase small subunit A
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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
enables serine C-palmitoyltransferase activity IDA
IDA: Inferred from direct assay
25691431 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within ceramide biosynthetic process IDA
IDA: Inferred from direct assay
25691431 GOA
involved in protein localization IDA
IDA: Inferred from direct assay
23510452 GOA
involved in sphingosine biosynthetic process IDA
IDA: Inferred from direct assay
19416851 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
23510452 GOA
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

SPTSSA Protein Structure

SPT_ssu-like

SPT_ssu-like: Small subunit of serine palmitoyltransferase-like (9 - 64)

  • 0
  • 71 a.a.
Protein Preferred Names Protein Names

serine palmitoyltransferase small subunit A

small subunit of serine palmitoyltransferase A

SPTSSA Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SPTSSA Q969W0 RHBDL1 Homo sapiens O75783
Y2H Prey Pooling
32296183
Intra
SPTSSA Q969W0 RHBDL1 Homo sapiens O75783
Y2H Array
32296183
Intra
SPTSSA Q969W0 GET1 Homo sapiens O00258
Y2H Prey Pooling
32296183
Intra
SPTSSA Q969W0 GET1 Homo sapiens O00258
Y2H Array
32296183
Intra
SPTSSA Q969W0 HERPUD2 Homo sapiens Q9BSE4
Y2H Array
32296183
Intra
SPTSSA Q969W0 HERPUD2 Homo sapiens Q9BSE4
Y2H Prey Pooling
32296183
Intra
SPTSSA Q969W0 HERPUD2 Homo sapiens Q9BSE4
Validated Y2H
32296183
Intra
SPTSSA Q969W0 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Intra
SPTSSA Q969W0 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome

Nephrotic Syndrome 14

NPHS14

Splis

Nephrotic Syndrome Type 14

Sgpl1 Deficiency

Steroid-Resistant Nephrotic Syndrome Type 14

Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency

Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency
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]
Alveoli Adenoma

Alveolar Adenoma

Adenoma Of Alveoli

Adenoma Of The Alveoli
Endometrial Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Endometrium

Adenosquamous Carcinoma Of The Endometrium

Endometrial Adenosquamous Cancer

Endometrial Adenosquamous Cell Carcinoma
Bronchial Benign Neoplasm

Bronchus Neoplasm

Neoplasm Of Bronchus

Bronchial Neoplasms

Bronchial Neoplasm
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS13739 SPTSSA Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SPTSSA RGD RGD:1565821
Bos taurus SPTSSA VGNC VGNC:35259
Mus musculus SPTSSA MGD MGI:1913399