2024-04-25 06:04:49, 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
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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
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