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DAZ1
Identifikatori
Aliasi	DAZ1
Vanjski ID-jevi	OMIM: 400003 HomoloGene: 88435 GeneCards: DAZ1
Lokacija gena (čovjek)
Hrom.	Hromosom Y
Kraj	23,199,010 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• translation activator activity; • GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje sa RNK; • nucleic acid binding; • mRNA binding; • mRNA 3'-UTR binding;
Ćelijska komponenta	• jedro; • citoplazma; • intracellular anatomical structure; • GO:0009327 makromolekulani kompleks;
Biološki proces	• multicellular organism development; • Ćelijska diferencijacija; • positive regulation of translational initiation; • Spermatogeneza; • 3'-UTR-mediated mRNA stabilization; • germ cell development;
	Izvori:Amigo / QuickGO
Ortolozi
	1617
	n/a
	ENSG00000188120
	n/a
	Q9NQZ3
	n/a
	NM_004081; NM_001388496
	n/a
	NP_004072
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek

Azospermijski deletirani 1, poznatiji kao DAZ1, je protein koji je kod čovjek kodiran genom DAZ1.^[3]^[4]

Funkcija

Ovaj gen član je porodice gena DAZ i kandidat je za ljudski Y-hromosomski azoospermijski faktor (AZF). Njegova ekspresija ograničen je na premejotske klicne ćelije, posebno u spermatogonijama. Kodira RNK-vezani protein, važan za spermatogenezu. U hromosomu Y nalaze se četiri kopije ovog gena u palindromskim duplikacijama. Jedan par gena dio je P2-palindroma, a drugi par P1-palindroma. Svaki gen sadrži ponavljanje od 2,4 kb, uključujući egzon od 72 bp, koji se naziva DAZ-ponavljanje; broj DAZ ponavljanja je promjenjiv i postoji nekoliko varijacija u njegovoj ponavljajućoj sekvenci DAZ. Svaka kopija gena također sadrži regiju od 10,8 kb, koja se može pojačati; ovo područje uključuje pet egzona, koji kodiraju domen motiva prepoznavanja RNK (RRM). Ovaj gen sadrži tri kopije ponavljanja od 10,8 kb. Međutim, nisu opisani transkripti koji sadrže tri kopije RRM-domena; zato RefSeq za ovaj gen sadrži samo dva RRMdomena.^[3]

Interakcije

Pokazano je da DAZ1 pma interakcije sa DAZAP2,^[5] DAZL^[5]^[6] DAZ-združenim proteinom 1.^[5]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000188120 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: DAZ1 deleted in azoospermia 1".
^ Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O (Aug 1995). "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nature Genetics. 10 (4): 383–93. doi:10.1038/ng0895-383. PMID 7670487.
^ ^a ^b ^c Tsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH (maj 2000). "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1". Genomics. 65 (3): 266–73. doi:10.1006/geno.2000.6169. PMID 10857750.
^ Ruggiu M, Cooke HJ (Jul 2000). "In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein". Gene. 252 (1–2): 119–26. doi:10.1016/S0378-1119(00)00219-5. PMID 10903443.

Dopunska literatura

Foresta C, Ferlin A, Moro E, Marin P, Rossi A, Scandellari C (2002). "[Microdeletion of chromosome Y in male infertility: role of the DAZ gene]". Annali Italiani di Medicina Interna. 16 (2): 82–92. PMID 11688365.
Fox MS, Reijo Pera RA (Nov 2001). "Male infertility, genetic analysis of the DAZ genes on the human Y chromosome and genetic analysis of DNA repair". Molecular and Cellular Endocrinology. 184 (1–2): 41–9. doi:10.1016/S0303-7207(01)00646-3. PMID 11694340.
Vogt PH, Fernandes S (Jan 2003). "Polymorphic DAZ gene family in polymorphic structure of AZFc locus: Artwork or functional for human spermatogenesis?". APMIS. 111 (1): 115–26, discussion 126–7. doi:10.1034/j.1600-0463.2003.11101161.x. PMID 12752250.
Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O (Aug 1995). "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nature Genetics. 10 (4): 383–93. doi:10.1038/ng0895-383. PMID 7670487.
Reijo R, Seligman J, Dinulos MB, Jaffe T, Brown LG, Disteche CM, Page DC (Jul 1996). "Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty". Genomics. 35 (2): 346–52. doi:10.1006/geno.1996.0366. PMID 8661148.
Cooke HJ, Lee M, Kerr S, Ruggiu M (Apr 1996). "A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads". Human Molecular Genetics. 5 (4): 513–6. doi:10.1093/hmg/5.4.513. PMID 8845845.
Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP, Reijo R, Rozen S, Dinulos MB, Disteche CM, Page DC (Nov 1996). "The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned". Nature Genetics. 14 (3): 292–9. doi:10.1038/ng1196-292. PMID 8896558.
Yen PH, Chai NN, Salido EC (Dec 1996). "The human autosomal gene DAZLA: testis specificity and a candidate for male infertility". Human Molecular Genetics. 5 (12): 2013–7. doi:10.1093/hmg/5.12.2013. PMID 8968756.
Menke DB, Mutter GL, Page DC (Jan 1997). "Expression of DAZ, an azoospermia factor candidate, in human spermatogonia". American Journal of Human Genetics. 60 (1): 237–41. PMC 1712565. PMID 8981970.
Yen PH, Chai NN, Salido EC (Oct 1997). "The human DAZ genes, a putative male infertility factor on the Y chromosome, are highly polymorphic in the DAZ repeat regions". Mammalian Genome. 8 (10): 756–9. doi:10.1007/s003359900560. PMID 9321470.
Agulnik AI, Zharkikh A, Boettger-Tong H, Bourgeron T, McElreavey K, Bishop CE (Sep 1998). "Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations". Human Molecular Genetics. 7 (9): 1371–7. doi:10.1093/hmg/7.9.1371. PMID 9700189.
Tsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH (maj 2000). "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1". Genomics. 65 (3): 266–73. doi:10.1006/geno.2000.6169. PMID 10857750.
Ruggiu M, Cooke HJ (Jul 2000). "In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein". Gene. 252 (1–2): 119–26. doi:10.1016/S0378-1119(00)00219-5. PMID 10903443.
Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC (Aug 2000). "Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome". Genomics. 67 (3): 256–67. doi:10.1006/geno.2000.6260. PMID 10936047.
Reijo RA, Dorfman DM, Slee R, Renshaw AA, Loughlin KR, Cooke H, Page DC (Nov 2000). "DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice". Biology of Reproduction. 63 (5): 1490–6. doi:10.1095/biolreprod63.5.1490. PMID 11058556.
Moro E, Ferlin A, Yen PH, Franchi PG, Palka G, Foresta C (Nov 2000). "Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome". The Journal of Clinical Endocrinology and Metabolism. 85 (11): 4069–73. doi:10.1210/jc.85.11.4069. PMID 11095434.
Xu EY, Moore FL, Pera RA (Jun 2001). "A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans". Proceedings of the National Academy of Sciences of the United States of America. 98 (13): 7414–9. doi:10.1073/pnas.131090498. PMC 34683. PMID 11390979.
Friel A, Houghton JA, Glennon M, Lavery R, Smith T, Nolan A, Maher M (Feb 2002). "A preliminary report on the implication of RT-PCR detection of DAZ, RBMY1, USP9Y and Protamine-2 mRNA in testicular biopsy samples from azoospermic men". International Journal of Andrology. 25 (1): 59–64. doi:10.1046/j.1365-2605.2002.00326.x. PMID 11869379.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000188120 - Ensembl, maj 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-3] "Entrez Gene: DAZ1 deleted in azoospermia 1".

[pmid7670487-4] Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O (Aug 1995). "Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene". Nature Genetics. 10 (4): 383–93. doi:10.1038/ng0895-383. PMID 7670487.

[pmid10857750-5] Tsui S, Dai T, Roettger S, Schempp W, Salido EC, Yen PH (maj 2000). "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1". Genomics. 65 (3): 266–73. doi:10.1006/geno.2000.6169. PMID 10857750.

[pmid10903443-6] Ruggiu M, Cooke HJ (Jul 2000). "In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein". Gene. 252 (1–2): 119–26. doi:10.1016/S0378-1119(00)00219-5. PMID 10903443.

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DAZ1

Funkcija

Interakcije

Reference

Dopunska literatura

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