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Homo sapiens sex determining region Y (SRY), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003140 Homo sapiens sex determining region Y (SRY), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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RefSeq Version NM_003140.1, 4507224
Length 897 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens sex determining region Y (SRY), mRNA.
Product sex-determining region Y protein
Comment

Summary: This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008].

RefSeq NP_003131.1
CDS 149..763
Misc Feature(1)89..91
Misc Feature(2)323..556
Misc Feature(3)323..556
Misc Feature(4)323..538
Misc Feature(5)329..379
Misc Feature(6)order(332..334,338..343,347..352,359..364,371..373,
Misc Feature(7)467..565
Misc Feature(8)536..556
Misc Feature(9)554..556
Misc Feature(10)560..613
Misc Feature(11)740..760
Exon (1)1..897
Gene:SRY
Gene Synonym:SRXX1; SRXY1; TDF; TDY
Translation MQSYASAMLSVFNSDDYSPAVQENIPALRRSSSFLCTESCNSKYQCETGENSKGNVQDRV KRPMNAFIVWSRDQRRKMALENPRMRNSEISKQLGYQWKMLTEAEKWPFFQEAQKLQAMH REKYPNYKYRPRRKAKMLPKNCSLLPADPASVLCSEVQLDNRLYRDDCTKATHSRMEHQL GHLPPINAASSPQQRDRYSHWTKL
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Position Chain Variation Link
complement(152)-t, cdbSNP:104894977
complement(160)-t, adbSNP:104894975
complement(201)-g, adbSNP:104894971
complement(326)-g, cdbSNP:104894957
complement(340)-g, adbSNP:104894969
complement(351)-t, cdbSNP:104894968
complement(357)-g, adbSNP:104894965
complement(418)-g, cdbSNP:104894959
complement(422)-t, adbSNP:104894970
complement(425)-t, cdbSNP:104894958
complement(431)-g, cdbSNP:104894974
complement(432)-g, adbSNP:104894972
complement(465)-t, adbSNP:104894964
complement(468)-g, adbSNP:104894967
complement(474)-t, cdbSNP:104894956
complement(485)-g, adbSNP:104894966
complement(528)-t, adbSNP:104894973
complement(545)-t, cdbSNP:104894976
complement(613)-t, cdbSNP:11575897
Gene SymbolSRY
Gene SynonymSRXX1; SRXY1; TDF; TDY
ChromosomeY
Locus MapYp11.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_003140 Homo sapiens sex determining region Y (SRY), mRNA. In-stock $308.00 $259.00 10
Title 70-kDa heat shock cognate protein hsc70 mediates calmodulin-dependent nuclear import of the sex-determining factor .
Author Kaur,G., Lieu,K.G. and Jans,D.A.
Journal J. Biol. Chem. 288 (6), 4148-4157 (2013)
Title 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism .
Author Stoppa-Vaucher,S., Ayabe,T., Paquette,J., Patey,N., Francoeur,D., Vuissoz,J.M., Deladoey,J., Samuels,M.E., Ogata,T. and Deal,C.L.
Journal Clin. Genet. 82 (6), 505-513 (2012)
Title Schizophrenia-associated HapICE haplotype is associated with increased NRG1 type III expression and high nucleotide diversity .
Author Weickert,C.S., Tiwari,Y., Schofield,P.R., Mowry,B.J. and Fullerton,J.M.
Journal Transl Psychiatry 2, E104 (2012)
Title Synergistic effect of SRY and its direct target, WDR5, on Sox9 expression .
Author Xu,Z., Gao,X., He,Y., Ju,J., Zhang,M., Liu,R., Wu,Y., Ma,C., Ma,C., Lin,Z., Huang,X. and Zhao,Q.
Journal PLoS ONE 7 (4), E34327 (2012)
Title A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis .
Author Filges,I., Kunz,C., Miny,P., Boesch,N., Szinnai,G., Wenzel,F., Tschudin,S., Zumsteg,U. and Heinimann,K.
Journal Fertil. Steril. 96 (4), 851-855 (2011)
Title A familial mutation in the testis-determining gene SRY shared by both sexes .
Author Jager,R.J., Harley,V.R., Pfeiffer,R.A., Goodfellow,P.N. and Scherer,G.
Journal Hum. Genet. 90 (4), 350-355 (1992)
Title SRY, like HMG1, recognizes sharp angles in DNA .
Author Ferrari,S., Harley,V.R., Pontiggia,A., Goodfellow,P.N., Lovell-Badge,R. and Bianchi,M.E.
Journal EMBO J. 11 (12), 4497-4506 (1992)
Title Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis .
Author Hawkins,J.R., Taylor,A., Goodfellow,P.N., Migeon,C.J., Smith,K.D. and Berkovitz,G.D.
Journal Am. J. Hum. Genet. 51 (5), 979-984 (1992)
Title Familial case with sequence variant in the testis-determining region associated with two sex phenotypes .
Author Vilain,E., McElreavey,K., Jaubert,F., Raymond,J.P., Richaud,F. and Fellous,M.
Journal Am. J. Hum. Genet. 50 (5), 1008-1011 (1992)
Title Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal .
Author Hawkins,J.R., Taylor,A., Berta,P., Levilliers,J., Van der Auwera,B. and Goodfellow,P.N.
Journal Hum. Genet. 88 (4), 471-474 (1992)


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