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O15269

- SPTC1_HUMAN

UniProt

O15269 - SPTC1_HUMAN

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Protein

Serine palmitoyltransferase 1

Gene

SPTLC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. 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. 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.1 Publication

Catalytic activityi

Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO2.1 Publication

Cofactori

Kineticsi

  1. KM=0.75 mM for serine1 Publication

Vmax=1350 pmol/min/mg enzyme1 Publication

Pathwayi

GO - Molecular functioni

  1. pyridoxal phosphate binding Source: InterPro
  2. serine C-palmitoyltransferase activity Source: UniProtKB

GO - Biological processi

  1. ceramide biosynthetic process Source: Ensembl
  2. small molecule metabolic process Source: Reactome
  3. sphinganine biosynthetic process Source: Ensembl
  4. sphingolipid biosynthetic process Source: UniProtKB
  5. sphingolipid metabolic process Source: Reactome
  6. sphingomyelin biosynthetic process Source: Ensembl
  7. sphingosine biosynthetic process Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

Lipid metabolism, Sphingolipid metabolism

Keywords - Ligandi

Pyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS01673-MONOMER.
BRENDAi2.3.1.50. 2681.
ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.
UniPathwayiUPA00222.

Names & Taxonomyi

Protein namesi
Recommended name:
Serine palmitoyltransferase 1 (EC:2.3.1.50)
Alternative name(s):
Long chain base biosynthesis protein 1
Short name:
LCB 1
Serine-palmitoyl-CoA transferase 1
Short name:
SPT 1
Short name:
SPT1
Gene namesi
Name:SPTLC1
Synonyms:LCB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:11277. SPTLC1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1515LumenalSequence AnalysisAdd
BLAST
Transmembranei16 – 3621HelicalSequence AnalysisAdd
BLAST
Topological domaini37 – 473437CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
  3. serine C-palmitoyltransferase complex Source: UniProtKB
  4. SPOTS complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1A is an autosomal dominant axonal form with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331C → W in HSAN1A; inactive in the heterodimeric SPT complex; largely reduced activity with serine as substrate, but nearly no effect on serine affinity in the heterotrimeric SPT complex; in contrast to wild-type is able to use alanine as substrate leading to the formation of 1-deoxysphinganine (1-deoxySa); does not interfere with SPT complex formation. 2 Publications
VAR_011392
Natural varianti133 – 1331C → Y in HSAN1A; reduced activity; does not interfere with SPT complex formation. 1 Publication
VAR_011393
Natural varianti144 – 1441V → D in HSAN1A; reduced activity; does not interfere with SPT complex formation. 1 Publication
VAR_011394
Natural varianti310 – 3101A → G Found in a patient with HSAN1A; uncertain pathological significance. 1 Publication
VAR_068476
Natural varianti331 – 3311S → F in HSAN1A; reduced activity. 2 Publications
VAR_066245
Natural varianti352 – 3521A → V in HSAN1A; reduced activity. 1 Publication
VAR_066246

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi164 – 1641Y → F: Increased serine palmitoyltransferase activity and sphingolipid content. 1 Publication

Keywords - Diseasei

Disease mutation, Neuropathy

Organism-specific databases

MIMi162400. phenotype.
Orphaneti36386. Hereditary sensory and autonomic neuropathy type 1.
PharmGKBiPA36106.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 473473Serine palmitoyltransferase 1PRO_0000163853Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei164 – 1641Phosphotyrosine; by ABL1 Publication

Post-translational modificationi

Phosphorylation at Tyr-164 inhibits activity and promotes cell survival.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO15269.
PaxDbiO15269.
PeptideAtlasiO15269.
PRIDEiO15269.

PTM databases

PhosphoSiteiO15269.

Expressioni

Tissue specificityi

Widely expressed. Not detected in small intestine.1 Publication

Gene expression databases

BgeeiO15269.
CleanExiHS_SPTLC1.
ExpressionAtlasiO15269. baseline and differential.
GenevestigatoriO15269.

Organism-specific databases

HPAiCAB018747.
HPA010860.

Interactioni

Subunit structurei

Heterodimer with SPTLC2 or SPTLC3. Component of the serine palmitoyltransferase (SPT) complex, composed of SPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB. Interacts with SPTSSA and SPTSSB; the interaction is direct. Interacts with ORMDL3.2 Publications

Protein-protein interaction databases

BioGridi115809. 15 interactions.
DIPiDIP-45626N.
IntActiO15269. 8 interactions.
STRINGi9606.ENSP00000262554.

Structurei

3D structure databases

ProteinModelPortaliO15269.
SMRiO15269. Positions 59-471.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0156.
GeneTreeiENSGT00550000074872.
HOGENOMiHOG000216602.
HOVERGENiHBG003992.
InParanoidiO15269.
KOiK00654.
OMAiVNHQRIN.
OrthoDBiEOG786H30.
PhylomeDBiO15269.
TreeFamiTF314877.

Family and domain databases

Gene3Di3.40.640.10. 1 hit.
3.90.1150.10. 1 hit.
InterProiIPR004839. Aminotransferase_I/II.
IPR015424. PyrdxlP-dep_Trfase.
IPR015421. PyrdxlP-dep_Trfase_major_sub1.
IPR015422. PyrdxlP-dep_Trfase_major_sub2.
[Graphical view]
PfamiPF00155. Aminotran_1_2. 1 hit.
[Graphical view]
SUPFAMiSSF53383. SSF53383. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O15269-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MATATEQWVL VEMVQALYEA PAYHLILEGI LILWIIRLLF SKTYKLQERS
60 70 80 90 100
DLTVKEKEEL IEEWQPEPLV PPVPKDHPAL NYNIVSGPPS HKTVVNGKEC
110 120 130 140 150
INFASFNFLG LLDNPRVKAA ALASLKKYGV GTCGPRGFYG TFDVHLDLED
160 170 180 190 200
RLAKFMKTEE AIIYSYGFAT IASAIPAYSK RGDIVFVDRA ACFAIQKGLQ
210 220 230 240 250
ASRSDIKLFK HNDMADLERL LKEQEIEDQK NPRKARVTRR FIVVEGLYMN
260 270 280 290 300
TGTICPLPEL VKLKYKYKAR IFLEESLSFG VLGEHGRGVT EHYGINIDDI
310 320 330 340 350
DLISANMENA LASIGGFCCG RSFVIDHQRL SGQGYCFSAS LPPLLAAAAI
360 370 380 390 400
EALNIMEENP GIFAVLKEKC GQIHKALQGI SGLKVVGESL SPAFHLQLEE
410 420 430 440 450
STGSREQDVR LLQEIVDQCM NRSIALTQAR YLEKEEKCLP PPSIRVVVTV
460 470
EQTEEELERA ASTIKEVAQA VLL
Length:473
Mass (Da):52,744
Last modified:January 1, 1998 - v1
Checksum:iBA9E056A869D2EA2
GO
Isoform 2 (identifier: O15269-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     143-143: D → E
     144-473: Missing.

Note: No experimental confirmation available.

Show »
Length:143
Mass (Da):16,073
Checksum:iED13F62F871136BF
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331C → W in HSAN1A; inactive in the heterodimeric SPT complex; largely reduced activity with serine as substrate, but nearly no effect on serine affinity in the heterotrimeric SPT complex; in contrast to wild-type is able to use alanine as substrate leading to the formation of 1-deoxysphinganine (1-deoxySa); does not interfere with SPT complex formation. 2 Publications
VAR_011392
Natural varianti133 – 1331C → Y in HSAN1A; reduced activity; does not interfere with SPT complex formation. 1 Publication
VAR_011393
Natural varianti144 – 1441V → D in HSAN1A; reduced activity; does not interfere with SPT complex formation. 1 Publication
VAR_011394
Natural varianti151 – 1511R → L.1 Publication
Corresponds to variant rs45461899 [ dbSNP | Ensembl ].
VAR_037889
Natural varianti239 – 2391R → W in a breast cancer sample; somatic mutation. 1 Publication
VAR_036610
Natural varianti310 – 3101A → G Found in a patient with HSAN1A; uncertain pathological significance. 1 Publication
VAR_068476
Natural varianti331 – 3311S → F in HSAN1A; reduced activity. 2 Publications
VAR_066245
Natural varianti352 – 3521A → V in HSAN1A; reduced activity. 1 Publication
VAR_066246
Natural varianti387 – 3871G → A Rare polymorphism; does not affect activity; does not interfere with SPT complex formation. 1 Publication
Corresponds to variant rs119482084 [ dbSNP | Ensembl ].
VAR_037890

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei143 – 1431D → E in isoform 2. 1 PublicationVSP_043127
Alternative sequencei144 – 473330Missing in isoform 2. 1 PublicationVSP_043128Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y08685 mRNA. Translation: CAA69941.1.
AF286717
, AF286703, AF286704, AF286705, AF286706, AF286707, AF286708, AF286709, AF286710, AF286711, AF286712, AF286713, AF286714, AF286715, AF286716 Genomic DNA. Translation: AAK29328.1.
AK291546 mRNA. Translation: BAF84235.1.
AL391219, AL354751 Genomic DNA. Translation: CAH70209.1.
AL354751 Genomic DNA. Translation: CAH69923.1.
AL354751, AL391219 Genomic DNA. Translation: CAH69924.1.
CH471089 Genomic DNA. Translation: EAW62804.1.
BC007085 mRNA. Translation: AAH07085.1.
CCDSiCCDS6692.1. [O15269-1]
CCDS6693.1. [O15269-2]
RefSeqiNP_001268232.1. NM_001281303.1.
NP_006406.1. NM_006415.3. [O15269-1]
NP_847894.1. NM_178324.2. [O15269-2]
UniGeneiHs.90458.

Genome annotation databases

EnsembliENST00000262554; ENSP00000262554; ENSG00000090054. [O15269-1]
ENST00000337841; ENSP00000337635; ENSG00000090054. [O15269-2]
GeneIDi10558.
KEGGihsa:10558.
UCSCiuc004arl.1. human. [O15269-1]
uc004arn.1. human. [O15269-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y08685 mRNA. Translation: CAA69941.1 .
AF286717
, AF286703 , AF286704 , AF286705 , AF286706 , AF286707 , AF286708 , AF286709 , AF286710 , AF286711 , AF286712 , AF286713 , AF286714 , AF286715 , AF286716 Genomic DNA. Translation: AAK29328.1 .
AK291546 mRNA. Translation: BAF84235.1 .
AL391219 , AL354751 Genomic DNA. Translation: CAH70209.1 .
AL354751 Genomic DNA. Translation: CAH69923.1 .
AL354751 , AL391219 Genomic DNA. Translation: CAH69924.1 .
CH471089 Genomic DNA. Translation: EAW62804.1 .
BC007085 mRNA. Translation: AAH07085.1 .
CCDSi CCDS6692.1. [O15269-1 ]
CCDS6693.1. [O15269-2 ]
RefSeqi NP_001268232.1. NM_001281303.1.
NP_006406.1. NM_006415.3. [O15269-1 ]
NP_847894.1. NM_178324.2. [O15269-2 ]
UniGenei Hs.90458.

3D structure databases

ProteinModelPortali O15269.
SMRi O15269. Positions 59-471.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115809. 15 interactions.
DIPi DIP-45626N.
IntActi O15269. 8 interactions.
STRINGi 9606.ENSP00000262554.

Chemistry

BindingDBi O15269.
ChEMBLi CHEMBL1250343.
DrugBanki DB00133. L-Serine.
GuidetoPHARMACOLOGYi 2509.

PTM databases

PhosphoSitei O15269.

Proteomic databases

MaxQBi O15269.
PaxDbi O15269.
PeptideAtlasi O15269.
PRIDEi O15269.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262554 ; ENSP00000262554 ; ENSG00000090054 . [O15269-1 ]
ENST00000337841 ; ENSP00000337635 ; ENSG00000090054 . [O15269-2 ]
GeneIDi 10558.
KEGGi hsa:10558.
UCSCi uc004arl.1. human. [O15269-1 ]
uc004arn.1. human. [O15269-2 ]

Organism-specific databases

CTDi 10558.
GeneCardsi GC09M094793.
GeneReviewsi SPTLC1.
H-InvDB HIX0034871.
HGNCi HGNC:11277. SPTLC1.
HPAi CAB018747.
HPA010860.
MIMi 162400. phenotype.
605712. gene.
neXtProti NX_O15269.
Orphaneti 36386. Hereditary sensory and autonomic neuropathy type 1.
PharmGKBi PA36106.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0156.
GeneTreei ENSGT00550000074872.
HOGENOMi HOG000216602.
HOVERGENi HBG003992.
InParanoidi O15269.
KOi K00654.
OMAi VNHQRIN.
OrthoDBi EOG786H30.
PhylomeDBi O15269.
TreeFami TF314877.

Enzyme and pathway databases

UniPathwayi UPA00222 .
BioCyci MetaCyc:HS01673-MONOMER.
BRENDAi 2.3.1.50. 2681.
Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

Miscellaneous databases

ChiTaRSi SPTLC1. human.
GeneWikii SPTLC1.
GenomeRNAii 10558.
NextBioi 40067.
PROi O15269.
SOURCEi Search...

Gene expression databases

Bgeei O15269.
CleanExi HS_SPTLC1.
ExpressionAtlasi O15269. baseline and differential.
Genevestigatori O15269.

Family and domain databases

Gene3Di 3.40.640.10. 1 hit.
3.90.1150.10. 1 hit.
InterProi IPR004839. Aminotransferase_I/II.
IPR015424. PyrdxlP-dep_Trfase.
IPR015421. PyrdxlP-dep_Trfase_major_sub1.
IPR015422. PyrdxlP-dep_Trfase_major_sub2.
[Graphical view ]
Pfami PF00155. Aminotran_1_2. 1 hit.
[Graphical view ]
SUPFAMi SSF53383. SSF53383. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis."
    Weiss B., Stoffel W.
    Eur. J. Biochem. 249:239-247(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Kidney.
  2. "Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I."
    Dawkins J.L., Hulme D.J., Brahmbhatt S.B., Auer-Grumbach M., Nicholson G.A.
    Nat. Genet. 27:309-312(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS HSAN1A TRP-133; TYR-133 AND ASP-144.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  4. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  7. "Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase."
    Hornemann T., Richard S., Ruetti M.F., Wei Y., von Eckardstein A.
    J. Biol. Chem. 281:37275-37281(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  8. "Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities."
    Han G., Gupta S.D., Gable K., Niranjanakumari S., Moitra P., Eichler F., Brown R.H. Jr., Harmon J.M., Dunn T.M.
    Proc. Natl. Acad. Sci. U.S.A. 106:8186-8191(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, IDENTIFICATION IN THE SPT COMPLEX, INTERACTION WITH SPTSSA AND SPTSSB.
  9. "A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity."
    Gable K., Gupta S.D., Han G., Niranjanakumari S., Harmon J.M., Dunn T.M.
    J. Biol. Chem. 285:22846-22852(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: BIOPHYSICOCHEMICAL PROPERTIES, CHARACTERIZATION OF VARIANT HSAN1A TRP-133.
  10. Cited for: INTERACTION WITH ORMDL3.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Phosphorylation of serine palmitoyltransferase long chain-1 (SPTLC1) on tyrosine 164 inhibits its activity and promotes cell survival."
    Taouji S., Higa A., Delom F., Palcy S., Mahon F.X., Pasquet J.M., Bosse R., Segui B., Chevet E.
    J. Biol. Chem. 288:17190-17201(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT TYR-164, MUTAGENESIS OF TYR-164.
  13. Cited for: VARIANT ALA-387.
  14. "Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene."
    Meggouh F., Bienfait H.M.E., Weterman M.A.J., de Visser M., Baas F.
    Neurology 67:1476-1478(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LEU-151.
  15. Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-239.
  16. Cited for: VARIANTS HSAN1A PHE-331 AND VAL-352.
  17. "A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated."
    Hornemann T., Penno A., Richard S., Nicholson G., van Dijk F.S., Rotthier A., Timmerman V., von Eckardstein A.
    Neurogenetics 10:135-143(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS HSAN1A TYR-133; TRP-133 AND ASP-144, CHARACTERIZATION OF VARIANT ALA-387, LACK OF ASSOCIATION OF VARIANT ALA-387 WITH HSAN1A.
  18. "Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I."
    Rotthier A., Penno A., Rautenstrauss B., Auer-Grumbach M., Stettner G.M., Asselbergh B., Van Hoof K., Sticht H., Levy N., Timmerman V., Hornemann T., Janssens K.
    Hum. Mutat. 32:E2211-E2225(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HSAN1A PHE-331, CHARACTERIZATION OF VARIANTS HSAN1A PHE-331 AND VAL-352.
  19. Cited for: VARIANT HSAN1A TRP-133, VARIANT GLY-310.

Entry informationi

Entry nameiSPTC1_HUMAN
AccessioniPrimary (citable) accession number: O15269
Secondary accession number(s): A8K681, Q5VWB4, Q96IX6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: November 26, 2014
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3