NiceProt View of SWISS-PROT: P03372

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General information about the entry

Entry name

ESR1_HUMAN

Primary accession number

P03372

Secondary accession number(s)

Q14276

Entered in SWISS-PROT in

Release 01, July 1986

Sequence was last modified in

Release 29, June 1994

Annotations were last modified in

Release 38, April 1999

Name and origin of the protein

Protein name

ESTROGEN RECEPTOR

Synonym(s)

ER
ESTRADIOL RECEPTOR

Gene name(s)

ESR1 OR NR3A1 OR ESR

From

HOMO SAPIENS (HUMAN)

Taxonomy

EUKARYOTA; METAZOA; CHORDATA; VERTEBRATA; MAMMALIA; EUTHERIA; PRIMATES; CATARRHINI; HOMINIDAE; HOMO.

References

[1]
SEQUENCE FROM N.A.
MEDLINE; 86122927. [NCBI, ExPASy, Israel, Japan]
GREENE G.L., GILNA P., WATERFIELD M., BAKER A., HORT Y., SHINE J.;
"Sequence and expression of human estrogen receptor complementary DNA.";
SCIENCE 231:1150-1154(1986).

[2]
SEQUENCE FROM N.A.
MEDLINE; 86146892. [NCBI, ExPASy, Israel, Japan]
GREEN S., WALTER P., KUMAR V., KRUST A., BORNERT J.-M., ARGOS P., CHAMBON P.;
"Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A.";
NATURE 320:134-139(1986).

[3]
SEQUENCE OF 216-434 FROM N.A., AND ALTERNATIVE SPLICING.
TISSUE=BREAST CARCINOMA;
MEDLINE; 93153765. [NCBI, ExPASy, Israel, Japan]
PFEFFER U., FECAROTTA E., CASTAGNETTA L., VIDALI G.;
"Estrogen receptor variant messenger RNA lacking exon 4 in estrogen- responsive human breast cancer cell lines.";
CANCER RES. 53:741-743(1993).

[4]
STRUCTURE BY NMR OF 180-262.
MEDLINE; 91061891. [NCBI, ExPASy, Israel, Japan]
SCHWABE J.W.E., NEUHAUS D., RHODES D.;
"Solution structure of the DNA-binding domain of the oestrogen receptor.";
NATURE 348:458-461(1990).

[5]
X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 180-262.
MEDLINE; 94037103. [NCBI, ExPASy, Israel, Japan]
SCHWABE J.W.E., CHAPMAN L., FINCH J.T., RHODES D.;
"The crystal structure of the estrogen receptor DNA-binding domain bound to DNA: how receptors discriminate between their response elements.";
CELL 75:567-578(1993).

[6]
X-RAY CRYSTALLOGRAPHY (3.1 ANGSTROMS) OF 305-548.
MEDLINE; 97478539. [NCBI, ExPASy, Israel, Japan]
BRZOZOWSKI A.M., PIKE A.C., DAUTER Z., HUBBARD R.E., BONN T., ENGSTROM O., OHMAN L., GREENE G.L., GUSTAFSSON J.A., CARLQUIST M.;
"Molecular basis of agonism and antagonism in the oestrogen receptor.";
NATURE 389:753-758(1997).

[7]
X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 306-544.
MEDLINE; 98263297. [NCBI, ExPASy, Israel, Japan]
TANENBAUM D.M., WANG Y., WILLIAMS S.P., SIGLER P.B.;
"Crystallographic comparison of the estrogen and progesterone receptor's ligand binding domains.";
PROC. NATL. ACAD. SCI. U.S.A. 95:5998-6003(1998).

[8]
3D-STRUCTURE MODELING OF 311-547.
MEDLINE; 98280806. [NCBI, ExPASy, Israel, Japan]
MAALOUF G.J., XU W., SMITH T., MOHR S.C.;
"Homology model for the ligand-binding domain of the human estrogen receptor.";
J. BIOMOL. STRUCT. DYN. 15:841-850(1998).

[9]
VARIANT VAL-400.
MEDLINE; 90005402. [NCBI, ExPASy, Israel, Japan]
TORA L., MULLICK A., METZGER D., PONGLIKITMONGKOL M., PARK I., CHAMBON P.;
"The cloned human oestrogen receptor contains a mutation which alters its hormone binding properties.";
EMBO J. 8:1981-1986(1989).

[10]
VARIANT ALA-447.
MEDLINE; 92250650. [NCBI, ExPASy, Israel, Japan]
REESE J.C., KATZENELLENBOGEN B.S.;
"Characterization of a temperature-sensitive mutation in the hormone binding domain of the human estrogen receptor. Studies in cell extracts and intact cells and their implications for hormone-dependent transcriptional activation.";
J. BIOL. CHEM. 267:9868-9873(1992).

[11]
VARIANT GLU-364.
MEDLINE; 97120591. [NCBI, ExPASy, Israel, Japan]
MCINERNEY E.M., INCE B.A., SHAPIRO D.J., KATZENELLENBOGEN B.S.;
"A transcriptionally active estrogen receptor mutant is a novel type of dominant negative inhibitor of estrogen action.";
MOL. ENDOCRINOL. 10:1519-1526(1996).

[12]
VARIANT CYS-160.
MEDLINE; 97338667. [NCBI, ExPASy, Israel, Japan]
ANDERSON T.I., WOOSTER R., LAAKE K., COLLINS N., WARREN W., SKREDE M., EELES R., TVEIT K.M., JOHNSTON S.R.D., DOWSETT M., OLSEN A.O., MOELLER P., STRATTON M.R., BOERRESEN-DALE A.-L.;
"Screening for ESR mutations in breast and ovarian cancer patients.";
HUM. MUTAT. 9:531-536(1997).

Comments

FUNCTION: THE STEROID HORMONES AND THEIR RECEPTORS ARE INVOLVED IN THE REGULATION OF EUKARYOTIC GENE EXPRESSION AND AFFECT CELLULAR PROLIFERATION AND DIFFERENTIATION IN TARGET TISSUES.
SUBUNIT: HOMODIMER.
SUBCELLULAR LOCATION: NUCLEAR.
ALTERNATIVE PRODUCTS: AT LEAST TWO FORMS ARE PRODUCED BY ALTERNATIVE SPLICING.
DOMAIN: COMPOSED OF THREE DOMAINS: A MODULATING N-TERMINAL DOMAIN, A DNA-BINDING DOMAIN AND A C-TERMINAL STEROID-BINDING DOMAIN.
MISCELLANEOUS: IN THE ABSENCE OF LIGAND, STEROID HORMONE RECEPTORS ARE THOUGHT TO BE WEAKLY ASSOCIATED WITH NUCLEAR COMPONENTS; HORMONE BINDING GREATLY INCREASES RECEPTOR AFFINITY. THE HORMONE-RECEPTOR COMPLEX APPEARS TO RECOGNIZE DISCRETE DNA SEQUENCES UPSTREAM OF TRANSCRIPTIONAL START SITES.
SIMILARITY: BELONGS TO THE NUCLEAR HORMONE RECEPTORS FAMILY. NR3 SUBFAMILY.

Copyright

This SWISS-PROT entry is copyright. It is produced through a collaboration between the Swiss Institute of Bioinformatics and the EMBL outstation - the European Bioinformatics Institute. There are no restrictions on its use by non-profit institutions as long as its content is in no way modified and this statement is not removed. Usage by and for commercial entities requires a license agreement (See http://www.isb-sib.ch/announce/ or send an email to license@isb-sib.ch).

Cross-references

EMBL	X03635; CAA27284.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence] M12674; AAA52399.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence] X73067; CAA51528.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
PIR	A03244; QRHUE.
PDB	1HCP; 23-NOV-95. [ExPASy / Brookhaven] 1HCQ; 23-NOV-95. [ExPASy / Brookhaven] 1AKF; 15-APR-98. [ExPASy / Brookhaven] 1A52; 16-SEP-98. [ExPASy / Brookhaven] 1ERE; 04-NOV-98. [ExPASy / Brookhaven] 1ERR; 04-NOV-98. [ExPASy / Brookhaven] 2ERD; 02-FEB-99. [ExPASy / Brookhaven] 2ERT; 02-FEB-99. [ExPASy / Brookhaven]
SWISS-3DIMAGE	ESR1_HUMAN.
MIM	133430; -.
GeneCard	GeneCard; ESR1.
PROSITE	PS00031; NUCLEAR_RECEPTOR; 1.
PFAM	PF00104; hormone_rec; 1. PF00105; zf-C4; 1.
TRANSFAC	T00261; -.
DOMO	P03372.
PRODOM	[Domain structure / List of seq. sharing at least 1 domain]
PROTOMAP	P03372.
PRESAGE	P03372.
SWISS-2DPAGE	GET REGION ON 2D PAGE.

Keywords

RECEPTOR; TRANSCRIPTION REGULATION; DNA-BINDING; NUCLEAR PROTEIN; ZINC-FINGER; STEROID-BINDING; POLYMORPHISM; 3D-STRUCTURE; ALTERNATIVE SPLICING.

Features

DOMAIN        1    184       MODULATING.

DNA_BIND    185    250       C4-TYPE ZINC FINGERS (TWO).

ZN_FING     185    205       C4-TYPE.

ZN_FING     221    245       C4-TYPE.

DOMAIN      251    310       HINGE.

DOMAIN      311    551       STEROID-BINDING.

VARSPLIC    255    366       MISSING (IN SHORT FORM).

VARIANT     160    160       G -> C.

VARIANT     364    364       V -> E (IN ESTROGEN RESISTANCE; DOMINANT-

                             NEGATIVE INHIBITOR OF THE WILDTYPE ESR).
VARIANT     400    400       G -> V (DESTABILIZES THE RECEPTOR AND

                             DECREASES ITS AFFINITY FOR ESTRADIOL AT
                             25 DEGREES CELSIUS, BUT NOT AT 4 DEGREES
                             CELSIUS).
VARIANT     447    447       C -> A (LOSS OF HORMONE BINDING CAPACITY

                             AND TEMPERATURE-SENSITIVE LOSS IN DNA-
                             BINDING).

FT table viewer

Sequence information

Length: 595 AA

Molecular weight: 66216 Da

CRC32: D6945BB9 [This is a checksum on the sequence]

        10         20         30         40         50         60 
         |          |          |          |          |          | 
MTMTLHTKAS GMALLHQIQG NELEPLNRPQ LKIPLERPLG EVYLDSSKPA VYNYPEGAAY

        70         80         90        100        110        120 
         |          |          |          |          |          | 
EFNAAAAANA QVYGQTGLPY GPGSEAAAFG SNGLGGFPPL NSVSPSPLML LHPPPQLSPF

       130        140        150        160        170        180 
         |          |          |          |          |          | 
LQPHGQQVPY YLENEPSGYT VREAGPPAFY RPNSDNRRQG GRERLASTND KGSMAMESAK

       190        200        210        220        230        240 
         |          |          |          |          |          | 
ETRYCAVCND YASGYHYGVW SCEGCKAFFK RSIQGHNDYM CPATNQCTID KNRRKSCQAC

       250        260        270        280        290        300 
         |          |          |          |          |          | 
RLRKCYEVGM MKGGIRKDRR GGRMLKHKRQ RDDGEGRGEV GSAGDMRAAN LWPSPLMIKR

       310        320        330        340        350        360 
         |          |          |          |          |          | 
SKKNSLALSL TADQMVSALL DAEPPILYSE YDPTRPFSEA SMMGLLTNLA DRELVHMINW

       370        380        390        400        410        420 
         |          |          |          |          |          | 
AKRVPGFVDL TLHDQVHLLE CAWLEILMIG LVWRSMEHPG KLLFAPNLLL DRNQGKCVEG

       430        440        450        460        470        480 
         |          |          |          |          |          | 
MVEIFDMLLA TSSRFRMMNL QGEEFVCLKS IILLNSGVYT FLSSTLKSLE EKDHIHRVLD

       490        500        510        520        530        540 
         |          |          |          |          |          | 
KITDTLIHLM AKAGLTLQQQ HQRLAQLLLI LSHIRHMSNK GMEHLYSMKC KNVVPLYDLL

       550        560        570        580        590   595 
         |          |          |          |          |     |
LEMLDAHRLH APTSRGGASV EETDQSHLAT AGSTSSHSLQ KYYITGEAEG FPATV

P03372 in FASTA format

NiceProt View of SWISS-PROT: P03372

Atención: Los hipervínculos del interior de la Tabla no están activos

Esquema de dominios del receptor estrogénico (ProDom)