LOCUS       NM_000145               2762 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens follicle stimulating hormone receptor (FSHR),
            transcript variant 1, mRNA.
ACCESSION   NM_000145
VERSION     NM_000145.4
KEYWORDS    RefSeq; MANE Select.
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 2762)
  AUTHORS   Mahey,R., Rajput,M., Dada,R., Kalaivani,M., Gupta,M.,
            Cheluvaraju,R., Malhotra,N., Saini,M., Bhatt,A., Kumar,M., Singh,N.
            and Bhatla,N.
  TITLE     Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism
            and their correlation with ART outcomes among infertile
            Indian-Asian women-a prospective cohort study
  JOURNAL   J Hum Genet 69 (8), 365-372 (2024)
   PUBMED   38664537
  REMARK    GeneRIF: Prevalence of FSH-R Asn680Ser and Ala307Thr receptor
            polymorphism and their correlation with ART outcomes among
            infertile Indian-Asian women-a prospective cohort study.
REFERENCE   2  (bases 1 to 2762)
  AUTHORS   Kaur,M., Singh,S. and Kaur,A.
  TITLE     Polymorphisms in FSHR modulating susceptibility to polycystic ovary
            syndrome: an updated meta-analysis
  JOURNAL   J Ovarian Res 16 (1), 183 (2023)
   PUBMED   37653412
  REMARK    GeneRIF: Polymorphisms in FSHR modulating susceptibility to
            polycystic ovary syndrome: an updated meta-analysis.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2762)
  AUTHORS   Amin,A., Lone,A., Wani,U.M., Farooq,F., Shah,R., Kumar,R. and
            Qadri,R.A.
  TITLE     Ala307Thr variation modulates FSHR structure and impairs its
            binding affinity for FSH: Implications in polycystic ovarian
            syndrome
  JOURNAL   Cell Biochem Funct 41 (6), 633-641 (2023)
   PUBMED   37287186
  REMARK    GeneRIF: Ala307Thr variation modulates FSHR structure and impairs
            its binding affinity for FSH: Implications in polycystic ovarian
            syndrome.
REFERENCE   4  (bases 1 to 2762)
  AUTHORS   Tedjawirja,V.N., Mieremet,A., Rombouts,K.B., Yap,C., Neele,A.E.,
            Northoff,B.H., Chen,H.J., Vos,M., Klaver,D., Yeung,K.K., Balm,R.
            and de Waard,V.
  TITLE     Exploring the expression and potential function of follicle
            stimulating hormone receptor in extragonadal cells related to
            abdominal aortic aneurysm
  JOURNAL   PLoS One 18 (5), e0285607 (2023)
   PUBMED   37228156
  REMARK    GeneRIF: Exploring the expression and potential function of
            follicle stimulating hormone receptor in extragonadal cells related
            to abdominal aortic aneurysm.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2762)
  AUTHORS   Neves,A.R., Garcia,S., Vuong,L.T., Blockeel,C., Arroyo,G.,
            Spits,C., Pham,T.D., Ho,T.M., Tournaye,H. and Polyzos,N.P.
  TITLE     Association between sequence variants in the FSHR gene and
            reproductive outcomes following IVF in predicted normoresponders
  JOURNAL   Reprod Biomed Online 46 (5), 826-834 (2023)
   PUBMED   37130623
  REMARK    GeneRIF: Association between sequence variants in the FSHR gene and
            reproductive outcomes following IVF in predicted normoresponders.
REFERENCE   6  (bases 1 to 2762)
  AUTHORS   Gromoll,J., Dankbar,B. and Gudermann,T.
  TITLE     Characterization of the 5' flanking region of the human
            follicle-stimulating hormone receptor gene
  JOURNAL   Mol Cell Endocrinol 102 (1-2), 93-102 (1994)
   PUBMED   7926278
REFERENCE   7  (bases 1 to 2762)
  AUTHORS   Gromoll,J., Gudermann,T. and Nieschlag,E.
  TITLE     Molecular cloning of a truncated isoform of the human follicle
            stimulating hormone receptor
  JOURNAL   Biochem Biophys Res Commun 188 (3), 1077-1083 (1992)
   PUBMED   1359889
REFERENCE   8  (bases 1 to 2762)
  AUTHORS   Kelton,C.A., Cheng,S.V., Nugent,N.P., Schweickhardt,R.L.,
            Rosenthal,J.L., Overton,S.A., Wands,G.D., Kuzeja,J.B.,
            Luchette,C.A. and Chappel,S.C.
  TITLE     The cloning of the human follicle stimulating hormone receptor and
            its expression in COS-7, CHO, and Y-1 cells
  JOURNAL   Mol Cell Endocrinol 89 (1-2), 141-151 (1992)
   PUBMED   1301382
REFERENCE   9  (bases 1 to 2762)
  AUTHORS   Tilly,J.L., Aihara,T., Nishimori,K., Jia,X.C., Billig,H.,
            Kowalski,K.I., Perlas,E.A. and Hsueh,A.J.
  TITLE     Expression of recombinant human follicle-stimulating hormone
            receptor: species-specific ligand binding, signal transduction, and
            identification of multiple ovarian messenger ribonucleic acid
            transcripts
  JOURNAL   Endocrinology 131 (2), 799-806 (1992)
   PUBMED   1322283
REFERENCE   10 (bases 1 to 2762)
  AUTHORS   Minegishi,T., Nakamura,K., Takakura,Y., Ibuki,Y., Igarashi,M. and
            Minegish T [corrected to Minegishi,T.].
  TITLE     Cloning and sequencing of human FSH receptor cDNA
  JOURNAL   Biochem Biophys Res Commun 175 (3), 1125-1130 (1991)
   PUBMED   1709010
  REMARK    Erratum:[Biochem Biophys Res Commun 1994 Jun 15;201(2):1057]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB064473.1, BC118548.1,
            BC125270.1, AK292562.1 and AC007189.6.
            
            On Aug 31, 2019 this sequence version replaced NM_000145.3.
            
            Summary: The protein encoded by this gene belongs to family 1 of
            G-protein coupled receptors. It is the receptor for follicle
            stimulating hormone and functions in gonad development. Mutations
            in this gene cause ovarian dysgenesis type 1, and also ovarian
            hyperstimulation syndrome. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK292562.1, BC118548.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000406846.7/ ENSP00000384708.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 5' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                DB064473.1         13-77
            66-1016             BC118548.1         1-951
            1017-2288           BC125270.1         874-2145
            2289-2646           AK292562.1         2269-2626
            2647-2647           AC007189.6         50223-50223
            2648-2762           AK292562.1         2627-2741
FEATURES             Location/Qualifiers
     source          1..2762
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     gene            1..2762
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="follicle stimulating hormone receptor"
                     /db_xref="GeneID:2492"
                     /db_xref="HGNC:HGNC:3969"
                     /db_xref="MIM:136435"
     exon            1..250
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..2186
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; follitropin receptor; FSH receptor"
                     /codon_start=1
                     /product="follicle-stimulating hormone receptor isoform 1
                     precursor"
                     /protein_id="NP_000136.2"
                     /db_xref="CCDS:CCDS1843.1"
                     /db_xref="GeneID:2492"
                     /db_xref="HGNC:HGNC:3969"
                     /db_xref="MIM:136435"
                     /translation="MALLLVSLLAFLSLGSGCHHRICHCSNRVFLCQESKVTEIPSDL
                     PRNAIELRFVLTKLRVIQKGAFSGFGDLEKIEISQNDVLEVIEADVFSNLPKLHEIRI
                     EKANNLLYINPEAFQNLPNLQYLLISNTGIKHLPDVHKIHSLQKVLLDIQDNINIHTI
                     ERNSFVGLSFESVILWLNKNGIQEIHNCAFNGTQLDELNLSDNNNLEELPNDVFHGAS
                     GPVILDISRTRIHSLPSYGLENLKKLRARSTYNLKKLPTLEKLVALMEASLTYPSHCC
                     AFANWRRQISELHPICNKSILRQEVDYMTQARGQRSSLAEDNESSYSRGFDMTYTEFD
                     YDLCNEVVDVTCSPKPDAFNPCEDIMGYNILRVLIWFISILAITGNIIVLVILTTSQY
                     KLTVPRFLMCNLAFADLCIGIYLLLIASVDIHTKSQYHNYAIDWQTGAGCDAAGFFTV
                     FASELSVYTLTAITLERWHTITHAMQLDCKVQLRHAASVMVMGWIFAFAAALFPIFGI
                     SSYMKVSICLPMDIDSPLSQLYVMSLLVLNVLAFVVICGCYIHIYLTVRNPNIVSSSS
                     DTRIAKRMAMLIFTDFLCMAPISFFAISASLKVPLITVSKAKILLVLFHPINSCANPF
                     LYAIFTKNFRRDFFILLSKCGCYEMQAQIYRTETSSTVHNTHPRNGHCSSAPRVTSGS
                     TYILVPLSHLAQN"
     exon            251..322
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /inference="alignment:Splign:2.1.0"
     exon            323..397
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /inference="alignment:Splign:2.1.0"
     exon            398..472
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /inference="alignment:Splign:2.1.0"
     exon            473..544
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /inference="alignment:Splign:2.1.0"
     exon            545..622
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /inference="alignment:Splign:2.1.0"
     exon            623..691
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /inference="alignment:Splign:2.1.0"
     exon            692..766
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /inference="alignment:Splign:2.1.0"
     exon            767..952
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /inference="alignment:Splign:2.1.0"
     exon            953..2762
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2386..2391
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="hexamer: ATTAAA"
     polyA_site      2411
                     /gene="FSHR"
                     /gene_synonym="FSHR1; FSHRO; LGR1; ODG1"
                     /note="major polyA site"
ORIGIN      
        1 agatctcttc tcataagggc actgtgtgga gcttctgaga tctgtggagg tttttctctg
       61 caaatgcagg aagaaatcag gtggatggat gcataattat ggccctgctc ctggtctctt
      121 tgctggcatt cctgagcttg ggctcaggat gtcatcatcg gatctgtcac tgctctaaca
      181 gggtttttct ctgccaagag agcaaggtga cagagattcc ttctgacctc ccgaggaatg
      241 ccattgaact gaggtttgtc ctcaccaagc ttcgagtcat ccaaaaaggt gcattttcag
      301 gatttgggga cctggagaaa atagagatct ctcagaatga tgtcttggag gtgatagagg
      361 cagatgtgtt ctccaacctt cccaaattac atgaaattag aattgaaaag gccaacaacc
      421 tgctctacat caaccctgag gccttccaga accttcccaa ccttcaatat ctgttaatat
      481 ccaacacagg tattaagcac cttccagatg ttcacaagat tcattctctc caaaaagttt
      541 tacttgacat tcaagataac ataaacatcc acacaattga aagaaattct ttcgtggggc
      601 tgagctttga aagtgtgatt ctatggctga ataagaatgg gattcaagaa atacacaact
      661 gtgcattcaa tggaacccaa ctagatgagc tgaatctaag cgataataat aatttagaag
      721 aattgcctaa tgatgttttc cacggagcct ctggaccagt cattctagat atttcaagaa
      781 caaggatcca ttccctgcct agctatggct tagaaaatct taagaagctg agggccaggt
      841 cgacttacaa cttaaaaaag ctgcctactc tggaaaagct tgtcgccctc atggaagcca
      901 gcctcaccta tcccagccat tgctgtgcct ttgcaaactg gagacggcaa atctctgagc
      961 ttcatccaat ttgcaacaaa tctattttaa ggcaagaagt tgattatatg actcaggcta
     1021 ggggtcagag atcctctctg gcagaagaca atgagtccag ctacagcaga ggatttgaca
     1081 tgacgtacac tgagtttgac tatgacttat gcaatgaagt ggttgacgtg acctgctccc
     1141 ctaagccaga tgcattcaac ccatgtgaag atatcatggg gtacaacatc ctcagagtcc
     1201 tgatatggtt tatcagcatc ctggccatca ctgggaacat catagtgcta gtgatcctaa
     1261 ctaccagcca atataaactc acagtcccca ggttccttat gtgcaacctg gcctttgctg
     1321 atctctgcat tggaatctac ctgctgctca ttgcatcagt tgatatccat accaagagcc
     1381 aatatcacaa ctatgccatt gactggcaaa ctggggcagg ctgtgatgct gctggctttt
     1441 tcactgtctt tgccagtgag ctgtcagtct acactctgac agctatcacc ttggaaagat
     1501 ggcataccat cacgcatgcc atgcagctgg actgcaaggt gcagctccgc catgctgcca
     1561 gtgtcatggt gatgggctgg atttttgctt ttgcagctgc cctctttccc atctttggca
     1621 tcagcagcta catgaaggtg agcatctgcc tgcccatgga tattgacagc cctttgtcac
     1681 agctgtatgt catgtccctc cttgtgctca atgtcctggc ctttgtggtc atctgtggct
     1741 gctatatcca catctacctc acagtgcgga accccaacat cgtgtcctcc tctagtgaca
     1801 ccaggatcgc caagcgcatg gccatgctca tcttcactga cttcctctgc atggcaccca
     1861 tttctttctt tgccatttct gcctccctca aggtgcccct catcactgtg tccaaagcaa
     1921 agattctgct ggttctgttt caccccatca actcctgtgc caaccccttc ctctatgcca
     1981 tctttaccaa aaactttcgc agagatttct tcattctgct gagcaagtgt ggctgctatg
     2041 aaatgcaagc ccaaatttat aggacagaaa cttcatccac tgtccacaac acccatccaa
     2101 ggaatggcca ctgctcttca gctcccagag tcaccagtgg ttccacttac atacttgtcc
     2161 ctctaagtca tttagcccaa aactaaaaca caatgtgaaa atgtatctga gtattgaatg
     2221 ataattcagt cttgcctttg aagggtatgt cacaaagagc tgacagtgct tctacacatt
     2281 tcatctaatt taatattcct ggcatacctt taaggtaaat tggtcaggaa ctattaattc
     2341 catgtgatac attaggaagc tgaattatta gtaacaacaa taataattaa agaatgcaat
     2401 actgtattac atattttatc cttatatatg ttatttttgc acgttatgtt caaagtgctt
     2461 ttgttcagat atctcaagtg atccctgtta aataagcagg acagggatta ttcttggagt
     2521 tttacaaatg aggaaaccac gactcaaaga gttaagtgac ttgttcaaaa ttgtttagtt
     2581 tgtaagaggc agagccagga ttaggtattc cgactcccag agaatttccc agagaagcac
     2641 catggtattc attcattcat tcattcaaca aatattaatt gaacacccat ctgaagcctt
     2701 tgtaatgcgt cagtgtggat aggctgaaat acatttccca gatttccctt cctcatgtgt
     2761 tt
//
