Serine palmitoyltransferase 1 (SPTLC1)
The protein contains 473 amino acids for an estimated molecular weight of 52744 Da.
Serine palmitoyltransferase (SPT) (PubMed:19416851). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core (PubMed:19416851). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference (PubMed:19416851). The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA (PubMed:19416851). The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference (PubMed:19416851). Required for adipocyte cell viability and metabolic homeostasis (By similarity). (updated: Feb. 13, 2019)
Protein identification was indicated in the following studies:
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is predicted to be membranous by TOPCONS.
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No binding partner found
Biological Process
Ceramide biosynthetic process
Positive regulation of lipophagy
Regulation of fat cell apoptotic process
Sphinganine biosynthetic process
Sphingolipid biosynthetic process
Sphingolipid metabolic process
Sphingomyelin biosynthetic process
Sphingosine biosynthetic process
The reference OMIM entry for this protein is 162400
Neuropathy, hereditary sensory and autonomic, type ia; hsan1a
Hsan ia
Neuropathy, hereditary sensory, type ia; hsn1a
Hsn ia
Neuropathy, hereditary sensory radicular, autosomal dominant, type 1a
A number sign (#) is used with this entry because hereditary sensory neuropathy type IA (HSAN1A) is caused by heterozygous mutation in the SPTLC1 gene (605712) on chromosome 9q22.
DESCRIPTION
The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN) in the absence of significant autonomic features, are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction. HSAN1 is a dominantly inherited sensorimotor axonal neuropathy with onset in the first or second decades of life. - Genetic Heterogeneity of HSAN See also HSAN1C (613640), caused by mutation in the SPTLC2 gene on 14q24; HSN1D (613708), caused by mutation in the ATL1 gene (606439) on 14q; HSN1E (614116), caused by mutation in the DNMT1 gene (126375) on 19p13; HSN1F (615632), caused by mutation in the ATL3 gene (609369) on 11q13; HSAN2A (201300), caused by mutation in the HSN2 isoform of the WNK1 gene (605232) on 12p13; HSAN2B (613115), caused by mutation in the FAM134B gene (613114) on 5p15; HSN2C (614213), caused by mutation in the KIF1A gene (601255) on 2q37; HSAN2D (see 243000), caused by mutation in the SCN9A gene (603415) on 2q24; HSAN3 (223900), caused by mutation in the IKBKAP gene (603722) on 9q31; HSAN4 (256800), caused by mutation in the NTRK1 gene (191315) on 1q21; HSAN5 (608654), caused by mutation in the NGF gene (162030) on 1p13; HSAN6 (614653), caused by mutation in the DST gene (113810) on 6p; HSAN7 (615548), caused by mutation in the SCN11A gene (604385) on 3p22; and HSAN8 (616488), caused by mutation in the PRDM12 gene (616458) on chromosome 9q34. Adult-onset HSAN with anosmia (608720) is believed to be another distinct form of HSAN, and HSAN1B (608088) with cough and gastroesophageal reflux maps to chromosome 3p24-p22.CLINICAL FEATURES
Hicks (1922) described an English family in which 10 members suffered from perforating ulcers of the feet, shooting pains, and deafness. Age of onset ranged from 15 to 36 years. Presentation was usually with a corn on a big toe followed by a painless ulcer with bony debris. Patients later experienced shooting pains similar to the lightning pains of tabes dorsalis and developed bilateral deafness progressing to total deafness over several years. Neurologic examination showed disappearance of ankle and knee jerks and absence of an extensor plantar response. There was loss of pain, touch, heat, and cold sensation over the feet, but sensation of the arms remained normal. Cranial nerves were normal, with the exception of the auditory nerve, pupils reacted normally, and there was no nystagmus. Hicks (1922) noted that although hereditary perforating ulcers of the feet had been reported in patients in the past, there had been no previous mention of accompanying deafness or shooting pains. Denny-Brown (1951) reported the clinical and autopsy findings of a 53-year-old woman who was a member of the family reported by Hicks (1922). When she was 22 years of age, an ulcer formed on her right great toe, requiring a year to heal. She subsequently suffered from recurrent ulceration, each episode lasting 6 to 9 months and sometimes extending to bone. In her early twenties, she first noticed shooting pains in her legs, sometimes in her arms. Deafness began at the age of 40 years and progressed to almost total deafness by 53 years of age. Neurologic examination at 53 years of age showed loss of all sensation in the lower l ... More on the omim web site
Feb. 22, 2019: Protein entry updated
Automatic update: Entry updated from uniprot information.
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 162400 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).