LOCUS NP_001005291 1177 aa linear PRI 13-NOV-2008
DEFINITION sterol regulatory element binding transcription factor 1 isoform a
[Homo sapiens].
ACCESSION NP_001005291
VERSION NP_001005291.1 GI:52630419
DBSOURCE REFSEQ: accession NM_001005291.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 1177)
AUTHORS Le Hellard,S., Muhleisen,T.W., Djurovic,S., Ferno,J., Ouriaghi,Z.,
Mattheisen,M., Vasilescu,C., Raeder,M.B., Hansen,T., Strohmaier,J.,
Georgi,A., Brockschmidt,F.F., Melle,I., Nenadic,I., Sauer,H.,
Rietschel,M., Nothen,M.M., Werge,T., Andreassen,O.A., Cichon,S. and
Steen,V.M.
TITLE Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated
transcription factors controlling cellular lipogenesis, are
associated with schizophrenia in German and Scandinavian samples
JOURNAL Mol. Psychiatry (2008) In press
PUBMED 18936756
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 2 (residues 1 to 1177)
AUTHORS Liu,J.X., Liu,J., Li,P.Q., Xie,X.D., Guo,Q., Tian,L.M., Ma,X.Q.,
Zhang,J.P., Liu,J. and Gao,J.Y.
TITLE Association of sterol regulatory element-binding protein-1c gene
polymorphism with type 2 diabetes mellitus, insulin resistance and
blood lipid levels in Chinese population
JOURNAL Diabetes Res. Clin. Pract. 82 (1), 42-47 (2008)
PUBMED 18692268
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 3 (residues 1 to 1177)
AUTHORS Lu,Y., Dolle,M.E., Imholz,S., Slot,R.V., Verschuren,W.M.,
Wijmenga,C., Feskens,E.J. and Boer,J.M.
TITLE Multiple genetic variants along candidate pathways influence plasma
high-density lipoprotein cholesterol concentrations
JOURNAL J. Lipid Res. (2008) In press
PUBMED 18660489
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 4 (residues 1 to 1177)
AUTHORS Arazi,S.S., Genvigir,F.D., Willrich,M.A., Hirata,M.H., Dorea,E.L.,
Bernik,M. and Hirata,R.D.
TITLE Atorvastatin effects on SREBF1a and SCAP gene expression in
mononuclear cells and its relation with lowering-lipids response
JOURNAL Clin. Chim. Acta 393 (2), 119-124 (2008)
PUBMED 18435918
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 5 (residues 1 to 1177)
AUTHORS Reed,B.D., Charos,A.E., Szekely,A.M., Weissman,S.M. and Snyder,M.
TITLE Genome-wide occupancy of SREBP1 and its partners NFY and SP1
reveals novel functional roles and combinatorial regulation of
distinct classes of genes
JOURNAL PLoS Genet. 4 (7), E1000133 (2008)
PUBMED 18654640
REMARK GeneRIF: Genome-wide occupancy of SREBP1 and its partners NFY and
SP1 reveals novel functional roles and combinatorial regulation of
distinct classes of genes.
Publication Status: Online-Only
REFERENCE 6 (sites)
AUTHORS Hirano,Y., Murata,S., Tanaka,K., Shimizu,M. and Sato,R.
TITLE Sterol regulatory element-binding proteins are negatively regulated
through SUMO-1 modification independent of the ubiquitin/26 S
proteasome pathway
JOURNAL J. Biol. Chem. 278 (19), 16809-16819 (2003)
PUBMED 12615929
REFERENCE 7 (sites)
AUTHORS Roth,G., Kotzka,J., Kremer,L., Lehr,S., Lohaus,C., Meyer,H.E.,
Krone,W. and Muller-Wieland,D.
TITLE MAP kinases Erk1/2 phosphorylate sterol regulatory element-binding
protein (SREBP)-1a at serine 117 in vitro
JOURNAL J. Biol. Chem. 275 (43), 33302-33307 (2000)
PUBMED 10915800
REFERENCE 8 (sites)
AUTHORS Hua,X., Sakai,J., Brown,M.S. and Goldstein,J.L.
TITLE Regulated cleavage of sterol regulatory element binding proteins
requires sequences on both sides of the endoplasmic reticulum
membrane
JOURNAL J. Biol. Chem. 271 (17), 10379-10384 (1996)
PUBMED 8626610
REFERENCE 9 (residues 1 to 1177)
AUTHORS Hua,X., Wu,J., Goldstein,J.L., Brown,M.S. and Hobbs,H.H.
TITLE Structure of the human gene encoding sterol regulatory element
binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to
chromosomes 17p11.2 and 22q13
JOURNAL Genomics 25 (3), 667-673 (1995)
PUBMED 7759101
REFERENCE 10 (residues 1 to 1177)
AUTHORS Sato,R., Yang,J., Wang,X., Evans,M.J., Ho,Y.K., Goldstein,J.L. and
Brown,M.S.
TITLE Assignment of the membrane attachment, DNA binding, and
transcriptional activation domains of sterol regulatory
element-binding protein-1 (SREBP-1)
JOURNAL J. Biol. Chem. 269 (25), 17267-17273 (1994)
PUBMED 8006035
REFERENCE 11 (residues 1 to 1177)
AUTHORS Wang,X., Sato,R., Brown,M.S., Hua,X. and Goldstein,J.L.
TITLE SREBP-1, a membrane-bound transcription factor released by
sterol-regulated proteolysis
JOURNAL Cell 77 (1), 53-62 (1994)
PUBMED 8156598
REFERENCE 12 (residues 1 to 1177)
AUTHORS Hua,X., Yokoyama,C., Wu,J., Briggs,M.R., Brown,M.S., Goldstein,J.L.
and Wang,X.
TITLE SREBP-2, a second basic-helix-loop-helix-leucine zipper protein
that stimulates transcription by binding to a sterol regulatory
element
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 90 (24), 11603-11607 (1993)
PUBMED 7903453
REFERENCE 13 (residues 1 to 1177)
AUTHORS Wang,X., Briggs,M.R., Hua,X., Yokoyama,C., Goldstein,J.L. and
Brown,M.S.
TITLE Nuclear protein that binds sterol regulatory element of low density
lipoprotein receptor promoter. II. Purification and
characterization
JOURNAL J. Biol. Chem. 268 (19), 14497-14504 (1993)
PUBMED 8314806
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BI906407.1, BC057388.1,
BC063281.1, BC026962.1 and BE208013.1.
Summary: This gene encodes a transcription factor that binds to the
sterol regulatory element-1 (SRE1), which is a decamer flanking the
low density lipoprotein receptor gene and some genes involved in
sterol biosynthesis. The protein is synthesized as a precursor that
is attached to the nuclear membrane and endoplasmic reticulum.
Following cleavage, the mature protein translocates to the nucleus
and activates transcription by binding to the SRE1. Sterols inhibit
the cleavage of the precursor, and the mature nuclear form is
rapidly catabolized, thereby reducing transcription. The protein is
a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip)
transcription factor family. This gene is located within the
Smith-Magenis syndrome region on chromosome 17. Two transcript
variants encoding different isoforms have been found for this gene.
[provided by RefSeq].
Transcript Variant: This variant (1) represents the longer
transcript and encodes the longer isoform (a).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..1177
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p11.2"
Protein 1..1177
/product="sterol regulatory element binding transcription
factor 1 isoform a"
/note="sterol regulatory element binding protein-1"
/calculated_mol_wt=124505
Site 147
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[7]
/db_xref="HPRD:01496"
Site 147
/site_type="phosphorylation"
/experiment="experimental evidence, no additional details
recorded"
/citation=[7]
/db_xref="HPRD:03479"
Site 514
/site_type="modified"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site"
/citation=[8]
Site 557
/site_type="modified"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site"
/citation=[8]
CDS 1..1177
/gene="SREBF1"
/gene_synonym="SREBP1"
/gene_synonym="bHLHd1"
/gene_synonym="SREBP-1c"
/coded_by="NM_001005291.1:195..3728"
/note="isoform a is encoded by transcript variant 1"
/db_xref="CCDS:CCDS32583.1"
/db_xref="GeneID:6720"
/db_xref="HGNC:11289"
/db_xref="HPRD:01701"
/db_xref="MIM:184756"
ORIGIN
1 mdeppfseaa leqalgepcd ldaalltdie gevgagrgra ngldapraga drgamdctfe
61 dmlqlinnqd sdfpglfdpp yagsgaggtd paspdtsspg slspppatls ssleaflsgp
121 qaapsplspp qpaptplkmy psmpafspgp gikeesvpls ilqtptpqpl pgallpqsfp
181 apappqfsst pvlgypsppg gfstgsppgn tqqplpglpl asppgvppvs lhtqvqsvvp
241 qqlltvtaap taapvtttvt sqiqqvpvll qphfikadsl lltamktdga tvkaaglspl
301 vsgttvqtgp lptlvsggti latvplvvda eklpinrlaa gskapasaqs rgekrtahna
361 iekryrssin dkiielkdlv vgteaklnks avlrkaidyi rflqhsnqkl kqenlslrta
421 vhkskslkdl vsacgsggnt dvlmegvkte vedtltppps dagspfqssp lslgsrgsgs
481 ggsgsdsepd spvfedskak peqrpslhsr gmldrsrlal ctlvflclsc nplasllgar
541 glpspsdtts vyhspgrnvl gtesrdgpgw aqwllppvvw llngllvlvs lvllfvygep
601 vtrphsgpav yfwrhrkqad ldlargdfaq aaqqlwlalr algrplptsh ldlacsllwn
661 lirhllqrlw vgrwlagrag glqqdcalrv dasasardaa lvyhklhqlh tmgkhtgghl
721 tatnlalsal nlaecagdav svatlaeiyv aaalrvktsl pralhfltrf flssarqacl
781 aqsgsvppam qwlchpvghr ffvdgdwsvl stpweslysl agnpvdplaq vtqlfrehll
841 eralncvtqp npspgsadgd kefsdalgyl qllnscsdaa gapaysfsis ssmatttgvd
901 pvakwwaslt avvihwlrrd eeaaerlcpl vehlprvlqe serplpraal hsfkaarall
961 gcakaesgpa slticekasg ylqdslattp asssidkavq lflcdlllvv rtslwrqqqp
1021 papapaaqgt ssrpqasale lrgfqrdlss lrrlaqsfrp amrrvflhea tarlmagasp
1081 trthqlldrs lrrragpggk ggavaelepr ptrrehaeal llascylppg flsapgqrvg
1141 mlaeaartle klgdrrllhd cqqmlmrlgg gttvtss
//