Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 2, mRNA.
| RefSeq Version | NM_001351.3, 299829260 |
| Length | 3054 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| 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]. 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 | Exon (1) | 1..297 | Exon (2) | 1..297 | Exon (3) | 298..444 | Exon (4) | 445..536 | Exon (5) | 537..588 | Exon (6) | 589..652 | Exon (7) | 653..792 | Exon (8) | 793..864 | Exon (9) | 865..915 | Exon (10) | 916..1029 | Exon (11) | 1030..1128 | Exon (12) | 1129..3050 |
| Translation | MSTANPETPNSTISREASTQSSSAATSQGYILPEGKIMPNTVFVGGIDVRMDETEIRSFF
ARYGSVKEVKIITDRTGVSKGYGFVSFFNDVDVQKIVESQINFHGKKLKLGPAIRKQNLC
AYHVQPRPLVFNHPPPPQFQNVWTNPNTETYMQPTTTMNPITQYVQAYPTYPNSPVQVIT
GYQLPVYNYQMPPQWPVGEQRSYVVPPAYSAVNYHCNEVDPGAEVVPNECSVHEATPPSG
NGPQKKSVDRSIQTVVSCLFNPENRLRNSVVTQDDYFKDKRVHHFRRSRAMLKSV
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| Position | Chain | Variation | Link |
| complement(7..8) | - | , a | dbSNP:35880485 |
| complement(64) | - | t, g | dbSNP:2241532 |
| complement(97) | - | g, c | dbSNP:78431097 |
| complement(207) | - | g, a | dbSNP:116172431 |
| 209 | + | a, g | dbSNP:3177745 |
| 251 | + | c, t | dbSNP:11542170 |
| complement(262) | - | g, c | dbSNP:9847342 |
| complement(267) | - | g, a | dbSNP:56079331 |
| complement(280) | - | g, a | dbSNP:113870916 |
| complement(328) | - | t, c | dbSNP:11710967 |
| complement(335) | - | g, c | dbSNP:61730117 |
| 454 | + | a, g | dbSNP:121918346 |
| complement(560) | - | t, g | dbSNP:75931701 |
| complement(699) | - | g, a | dbSNP:115317726 |
| 1392 | + | c, t | dbSNP:1048958 |
| complement(1531) | - | g, c | dbSNP:17042443 |
| complement(1561) | - | g, a | dbSNP:114431761 |
| complement(1742) | - | g, a | dbSNP:77428956 |
| complement(1744) | - | t, c | dbSNP:10510454 |
| complement(2028) | - | t, a | dbSNP:2059743 |
| 2030 | + | , t | dbSNP:71049168 |
| complement(2031) | - | , a | dbSNP:34625250 |
| complement(2075) | - | g, a | dbSNP:78972593 |
| complement(2314..2315) | - | , g | dbSNP:67857498 |
| complement(2315..2316) | - | , g | dbSNP:55679752 |
| complement(2317..2318) | - | , g | dbSNP:79921926 |
| complement(2322) | - | t, a | dbSNP:115845481 |
| complement(2383) | - | g, a | dbSNP:73142509 |
| complement(2698) | - | t, a | dbSNP:78954860 |
| complement(2957) | - | g, a | dbSNP:117986067 |
| 3007 | + | c, t | dbSNP:1048960 |
| complement(3035) | - | g, c | dbSNP:2347312 |
| Gene Symbol | DAZL |
| Gene Synonym | DAZH; DAZL1; DAZLA; MGC26406; SPGYLA |
| Chromosome | 3 |
| Locus Map | 3p24.3 |
| All Transcripts | NM_001351 , NM_001190811 |
| 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 | The dazzle in germ cell differentiation . |
| Author | Kerr,C.L. and Cheng,L. |
| Journal | J Mol Cell Biol 2 (1), 26-29 (2010) |
| Title | Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation . |
| Author | Kee,K., Angeles,V.T., Flores,M., Nguyen,H.N. and Reijo Pera,R.A. |
| Journal | Nature 462 (7270), 222-225 (2009) |
| Title | A386G polymorphism of the DAZL gene is not associated with idiopathic male infertility in North India . |
| Author | Singh,K. and Raman,R. |
| Journal | J Hum Reprod Sci 2 (2), 54-56 (2009) |
| 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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