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Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_001351 Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 2, mRNA. ORF Sequence $257.52
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RefSeq Version NM_001351.3, 299829260
Length 3054 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 2, mRNA.
Product deleted in azoospermia-like isoform 2
Comment

Summary: The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010].


Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 2.

RefSeq NP_001342.2
CDS 295..1182
Misc Feature(1)55..57
Misc Feature(2)415..630
Misc Feature(3)415..630
Misc Feature(4)order(421..423,538..540,544..546)
Misc Feature(5)532..690
Misc Feature(6)622..630
Exon (1)1..297
Gene:DAZL
Gene Synonym:DAZH; DAZL1; DAZLA; SPGYLA
Exon (2)298..444
Gene:DAZL
Gene Synonym:DAZH; DAZL1; DAZLA; SPGYLA
Exon (3)445..536
Gene:DAZL
Gene Synonym:DAZH; DAZL1; DAZLA; SPGYLA
Exon (4)537..588
Gene:DAZL
Gene Synonym:DAZH; DAZL1; DAZLA; SPGYLA
Exon (5)589..652
Gene:DAZL
Gene Synonym:DAZH; DAZL1; DAZLA; SPGYLA
Exon (6)653..792
Gene:DAZL
Gene Synonym:DAZH; DAZL1; DAZLA; SPGYLA
Exon (7)793..864
Gene:DAZL
Gene Synonym:DAZH; DAZL1; DAZLA; SPGYLA
Exon (8)865..915
Gene:DAZL
Gene Synonym:DAZH; DAZL1; DAZLA; SPGYLA
Exon (9)916..1029
Gene:DAZL
Gene Synonym:DAZH; DAZL1; DAZLA; SPGYLA
Exon (10)1030..1128
Gene:DAZL
Gene Synonym:DAZH; DAZL1; DAZLA; SPGYLA
Exon (11)1129..3050
Gene:DAZL
Gene Synonym:DAZH; DAZL1; DAZLA; SPGYLA
Translation MSTANPETPNSTISREASTQSSSAATSQGYILPEGKIMPNTVFVGGIDVRMDETEIRSFF ARYGSVKEVKIITDRTGVSKGYGFVSFFNDVDVQKIVESQINFHGKKLKLGPAIRKQNLC AYHVQPRPLVFNHPPPPQFQNVWTNPNTETYMQPTTTMNPITQYVQAYPTYPNSPVQVIT GYQLPVYNYQMPPQWPVGEQRSYVVPPAYSAVNYHCNEVDPGAEVVPNECSVHEATPPSG NGPQKKSVDRSIQTVVSCLFNPENRLRNSVVTQDDYFKDKRVHHFRRSRAMLKSV
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Position Chain Variation Link
complement(7..8)-dbSNP:
complement(7..8)-, adbSNP:35880485
complement(60)-g, adbSNP:185014146
complement(64)-t, gdbSNP:2241532
complement(97)-g, cdbSNP:78431097
complement(118)-t, cdbSNP:191406933
complement(207)-g, adbSNP:116172431
complement(209)-g, adbSNP:3177745
complement(251)-t, cdbSNP:11542170
complement(256)-g, adbSNP:200429582
complement(262)-g, cdbSNP:9847342
complement(267)-g, adbSNP:56079331
complement(268)-c, adbSNP:201594625
complement(280)-g, adbSNP:113870916
complement(302)-dbSNP:
complement(302)-t, cdbSNP:1130313
complement(307)-t, gdbSNP:200367943
complement(328)-t, cdbSNP:11710967
complement(335)-g, cdbSNP:61730117
complement(454)-dbSNP:
complement(454)-g, adbSNP:121918346
complement(560)-dbSNP:
complement(560)-t, gdbSNP:75931701
complement(562)-g, cdbSNP:200341557
complement(606)-dbSNP:
complement(606)-g, adbSNP:139840516
complement(652)-g, adbSNP:201242764
complement(689)-dbSNP:
complement(689)-t, cdbSNP:202014772
complement(697)-g, adbSNP:200935066
complement(699)-g, adbSNP:115317726
complement(746)-t, cdbSNP:200210483
complement(747)-g, adbSNP:187552486
complement(901)-dbSNP:
complement(901)-g, adbSNP:192434498
complement(911)-g, adbSNP:199641341
complement(912)-g, adbSNP:200894010
complement(918)-dbSNP:
complement(918)-t, adbSNP:201548497
complement(937)-t, gdbSNP:202023527
complement(1006)-g, adbSNP:188506466
complement(1093)-dbSNP:
complement(1093)-t, gdbSNP:191274968
complement(1184)-dbSNP:
complement(1184)-g, cdbSNP:200597687
complement(1392)-t, cdbSNP:1048958
complement(1417)-t, cdbSNP:188447697
complement(1531)-g, cdbSNP:17042443
complement(1546)-t, cdbSNP:144459180
complement(1561)-g, adbSNP:114431761
complement(1563)-t, cdbSNP:183385448
complement(1645)-t, cdbSNP:193027986
complement(1696)-t, cdbSNP:187383615
complement(1739)-t, cdbSNP:149243225
complement(1742)-g, adbSNP:77428956
complement(1744)-t, cdbSNP:10510454
complement(1747)-g, adbSNP:139892372
complement(1980)-t, cdbSNP:183118524
complement(2028)-t, adbSNP:2059743
complement(2031)-, adbSNP:34625250
complement(2075)-g, adbSNP:78972593
complement(2158)-t, cdbSNP:184998720
complement(2187)-t, gdbSNP:145955761
complement(2209)-t, cdbSNP:182358825
complement(2316..2317)-, gdbSNP:55679752
complement(2318..2319)-, gdbSNP:79921926
complement(2383)-g, adbSNP:73142509
complement(2437)-g, adbSNP:142574083
complement(2810)-t, cdbSNP:137988133
complement(2957)-g, adbSNP:117986067
complement(3007)-t, cdbSNP:1048960
complement(3035)-g, cdbSNP:2347312
Gene SymbolDAZL
Gene SynonymDAZH; DAZL1; DAZLA; SPGYLA
Chromosome3
Locus Map3p24.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001190811 Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA. Full Length $1087.80
ORF Sequence $274.92
NM_001351 Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 2, mRNA. Full Length $1068.90
ORF Sequence $257.52
Title A single-nucleotide polymorphism of the DAZL gene promoter confers susceptibility to spermatogenic failure in the Taiwanese Han .
Author Teng,Y.N., Chang,Y.P., Tseng,J.T., Kuo,P.H., Lee,I.W., Lee,M.S. and Kuo,P.L.
Journal Hum. Reprod. 27 (9), 2857-2865 (2012)
Title Divergent RNA-binding proteins, DAZL and VASA, induce meiotic progression in human germ cells derived in vitro .
Author Medrano,J.V., Ramathal,C., Nguyen,H.N., Simon,C. and Reijo Pera,R.A.
Journal Stem Cells 30 (3), 441-451 (2012)
Title DAZL 260A > G and MTHFR 677C > T variants in sperm DNA of infertile Indian men .
Author Kumar,K., Venkatesh,S., Sharma,P.R., Tiwari,P.K. and Dada,R.
Journal Indian J. Biochem. Biophys. 48 (6), 422-426 (2011)
Title Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm .
Author Navarro-Costa,P., Nogueira,P., Carvalho,M., Leal,F., Cordeiro,I., Calhaz-Jorge,C., Goncalves,J. and Plancha,C.E.
Journal Hum. Reprod. 25 (10), 2647-2654 (2010)
Title Quantitative trait analysis suggests human DAZL may be involved in regulating sperm counts and motility .
Author Hsu,C.C., Kuo,P.H., Lee,I.W., Su,M.T., Tseng,J.T. and Kuo,P.L.
Journal Reprod. Biomed. Online 21 (1), 77-83 (2010)
Title A putative human male infertility gene DAZLA: genomic structure and methylation status .
Author Chai,N.N., Phillips,A., Fernandez,A. and Yen,P.H.
Journal Mol. Hum. Reprod. 3 (8), 705-708 (1997)
Title Gene sequence, localization, and evolutionary conservation of DAZLA, a candidate male sterility gene .
Author Seboun,E., Barbaux,S., Bourgeron,T., Nishi,S., Agulnik,A., Egashira,M., Nikkawa,N., Bishop,C., Fellous,M., McElreavey,K. and Kasahara,M.
Journal Genomics 41 (2), 227-235 (1997)
Title The human autosomal gene DAZLA: testis specificity and a candidate for male infertility .
Author Yen,P.H., Chai,N.N. and Salido,E.C.
Journal Hum. Mol. Genet. 5 (12), 2013-2017 (1996)
Title A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad .
Author Shan,Z., Hirschmann,P., Seebacher,T., Edelmann,A., Jauch,A., Morell,J., Urbitsch,P. and Vogt,P.H.
Journal Hum. Mol. Genet. 5 (12), 2005-2011 (1996)
Title The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned .
Author Saxena,R., Brown,L.G., Hawkins,T., Alagappan,R.K., Skaletsky,H., Reeve,M.P., Reijo,R., Rozen,S., Dinulos,M.B., Disteche,C.M. and Page,D.C.
Journal Nat. Genet. 14 (3), 292-299 (1996)

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