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2024-04-20 00:05:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001040100 2306 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens serine palmitoyltransferase, small subunit B (SPTSSB),
mRNA.
ACCESSION NM_001040100
VERSION NM_001040100.1 GI:93141041
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2306)
AUTHORS Han,G., Gupta,S.D., Gable,K., Niranjanakumari,S., Moitra,P.,
Eichler,F., Brown,R.H. Jr., Harmon,J.M. and Dunn,T.M.
TITLE Identification of small subunits of mammalian serine
palmitoyltransferase that confer distinct acyl-CoA substrate
specificities
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 106 (20), 8186-8191 (2009)
PUBMED 19416851
REMARK Erratum:[Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9931]
REFERENCE 2 (bases 1 to 2306)
AUTHORS Singh,J., Young,L., Handelsman,D.J. and Dong,Q.
TITLE Molecular cloning and characterization of a novel androgen
repressible gene expressed in the prostate epithelium
JOURNAL Gene 348, 55-63 (2005)
PUBMED 15777716
REMARK GeneRIF: ADMP expression was seen predominantly in the prostate
epithelium with weaker expression in the fibroblasts and
endothelial cells.
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AK123348.1, BU950567.1, BU950276.1 and AF458592.1.
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].
##Evidence-Data-START##
Transcript exon combination :: AF458592.1, AK123348.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1381 AK123348.1 798-2178
1382-1749 BU950567.1 157-524
1750-2300 BU950276.1 4-554 c
2301-2306 AF458592.1 2184-2189
FEATURES Location/Qualifiers
source 1..2306
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q26.1"
gene 1..2306
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/note="serine palmitoyltransferase, small subunit B"
/db_xref="GeneID:165679"
/db_xref="HGNC:24045"
/db_xref="MIM:610412"
exon 1..649
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/inference="alignment:Splign:1.39.8"
misc_feature 619..621
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/note="upstream in-frame stop codon"
exon 650..742
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/inference="alignment:Splign:1.39.8"
variation 702
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:1450522"
exon 743..2306
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/inference="alignment:Splign:1.39.8"
CDS 775..1005
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/note="likely ortholog of androgen down regulated gene
expressed in mouse prostate; androgen down regulated in
mouse prostate; small subunit of serine
palmitoyltransferase B"
/codon_start=1
/product="serine palmitoyltransferase small subunit B"
/protein_id="NP_001035189.1"
/db_xref="GI:93141042"
/db_xref="CCDS:CCDS33887.1"
/db_xref="GeneID:165679"
/db_xref="HGNC:24045"
/db_xref="MIM:610412"
/translation="
MDLRRVKEYFSWLYYQYQIISCCAVLEPWERSMFNTILLTIIAMVVYTAYVFIPIHIRLAWEFFSKICGYHSTISN
"
misc_feature 787..960
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/note="Protein of unknown function (DUF3317); Region:
DUF3317; pfam11779"
/db_xref="CDD:204741"
misc_feature 808..861
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8NFR3.1);
transmembrane region"
misc_feature 883..945
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8NFR3.1);
transmembrane region"
variation 1321
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/replace="a"
/replace="g"
/db_xref="dbSNP:180298"
variation 1382
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/replace="a"
/replace="g"
/db_xref="dbSNP:189270"
STS 2111..2262
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/standard_name="AB050536"
/db_xref="UniSTS:479821"
variation 2162
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
/replace="c"
/replace="t"
/db_xref="dbSNP:163327"
polyA_signal 2277..2282
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
polyA_site 2306
/gene="SPTSSB"
/gene_synonym="ADMP; C3orf57; SSSPTB"
ORIGIN
gcccgcccctctaccaccgccaaaggacgtgccccttcagtagagtcggggatcccagccccagagcgggggagggcgcctccctatcccctcctccccgtccccgcctcggctcggggttttactgcagcagccggaggtgacagcgacgcctcagccgcctctgttgctctcggagccccggcttcccctgcaccgggaaagcgccccctctcgagaggctggtccctggagaactgcgaacgagctgcagaaaaccagattttaaaatgtagaagtcgttgggctgcattcctccgaggaccagtctgatcgcccaggactaagagtggcagcgtatgagaagttgggaccatagagcaagggggggaggggagtgttgcagcaggcattctcttctggaaggagtcgctgggagcagtgcggttggacacaagtttgcgtaggagtgttttccttttgtcaataattaatcaccggaattagccaggtagaatttgagttttagcaagagtcctgagggcggggccgaacacctaactccgggaggctcccaggcgcccggcgcagtgggaagctcgcagcagctggggaggagccaaagcctcggcgctcacctaagccgcagggagatacacccaactgggagatgaggaaacagcaacccagagaggagaactaacccacacaggatcatttcgtgaaggagcaaggctgaagaaccagacctggactttcttaggacaaacttactgcagcttgaaggagccaaccatggatttgaggcgtgtgaaggaatatttctcctggctctactatcaataccaaatcattagctgctgtgctgttttagagccctgggagcgatctatgtttaacaccatcttactaaccattattgctatggtggtatacactgcctatgtctttattccaatccacattcgcctggcttgggaatttttctcaaaaatatgtggatatcacagtacaatttctaattgatcctgttcacattcagtgaaatggcattgcatatttatatgttgcttacagcttattgatttaggtaactattgtgtcttccttcactatctgacctgaaaagcactctcttctctatgcactcttatattctgcctttctgcctggagtttgaaatacatgtctctttagtttcttttgcacatgctacattgtgctttagaccggagataatacagtgactttacctcacaaatcatattctgtcaacacaaatctatgaatttagtttatttaaaatcagaacaatttcctacaaaatttttctggaaaatagactcctaacagacctaccagaatcatgcttaaagtgctcccttgacacttattctatactaaaggataaattttaaaaaatctttataggctactgtcagaagtatcctatccttgtttacgatgtataaaaagatgtgaataaattatatggaccccctaagtcttattttctagtaaactgatgatactggaaattcttttacttcaaatgcaaaagaataagctggaggcaattatttcctttcatacagagttcatgaattgttttaaatgcttcttaaagtctggctttataaccgtttaaaatcaacaatgttgattttagataaccaagtaagtattataatacaaaataattttaagtgtaagaaactaaagtataatcaaagtaaattcagttattgtatttgtggtgttgccttgccttgcatgatgctgggggaaaaagagaaaagaaatggttttctttttgtactttcattcagtgtagagggaaaaaagcatgtattgggccaccggaagacaagctaataaataggctggaagtaatattctaccagcaggaactcaacagctccagttaaatgctttgatatagtggctcctttgcagagccaaaacaagatttattaaatttccttcaaactgtttatctttaaaacaaatataaggttttaattatactgctgaagcaaatgtgaatgccaaagactacgttttgcagttttgctttcctcccaataaatattaatgtatgtaattctagagggtaaaaatgtaaataggtttggacaatatttgcacccttgtttgtgttatgaaaaaaatttttccaaggtgagctagagagaaagatgtttggcatgccaaattaacttgcatgtttgttaaaaaaacaaacacatgttttgaagagaaaccagatctgaacatgtatttgttgagttttgcaaaataaaattaattttgtaagtaaatatcta
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:165679 -> Molecular function: GO:0004758 [serine C-palmitoyltransferase activity] evidence: IDA
GeneID:165679 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:165679 -> Biological process: GO:0030148 [sphingolipid biosynthetic process] evidence: TAS
GeneID:165679 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
GeneID:165679 -> Cellular component: GO:0017059 [serine C-palmitoyltransferase complex] evidence: IDA
by
@meso_cacase at
DBCLS
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