DAZ1 (deleted in azoospermia 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1617
Gene name Gene Name - the full gene name approved by the HGNC.
Deleted in azoospermia 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DAZ1
Synonyms (NCBI Gene) Gene synonyms aliases
DAZ, SPGY
Chromosome Chromosome number
Y
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Yq11.223
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(41)
miRTarBase ID miRNA Experiments Reference
MIRT923309 hsa-let-7a CLIP-seq
MIRT923310 hsa-let-7b CLIP-seq
MIRT923311 hsa-let-7c CLIP-seq
MIRT923312 hsa-let-7d CLIP-seq
MIRT923313 hsa-let-7e CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0003730 Function MRNA 3'-UTR binding IBA 21873635
GO:0005515 Function Protein binding IPI 10857750, 12511597, 15081113, 16001084
GO:0005634 Component Nucleus IDA 15081113
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 15081113
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
400003 2682 ENSG00000188120
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9NQZ3
Protein name Deleted in azoospermia protein 1
Protein function RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells. {ECO:0000269|PubMed:1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 42 → 109 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 207 → 274 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 372 → 439 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF18872 Daz 500 → 520 Daz repeat Repeat
PF18872 Daz 524 → 544 Daz repeat Repeat
PF18872 Daz 548 → 568 Daz repeat Repeat
PF18872 Daz 572 → 592 Daz repeat Repeat
PF18872 Daz 596 → 616 Daz repeat Repeat
PF18872 Daz 620 → 640 Daz repeat Repeat
PF18872 Daz 644 → 664 Daz repeat Repeat
PF18872 Daz 668 → 688 Daz repeat Repeat
PF18872 Daz 692 → 712 Daz repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level). {ECO:0000269|PubMed:10936047, ECO:0000269|PubMed:18385127, ECO:0000269|PubMed:19223287}.
Sequence 
MSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCF
GRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLC
ARHVQPRPLVVNPPPPPQFQNVWRNPNTETYLQPQITPNPVTQHVQSAANPETPNSTISR
EASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCFGRYGSVKEVKIITNR
TGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPP
PPQFQNVWRNPNTETYLQPQITPNPVTQHVQSAANPETPNSTISREASTQSSSAAASQGW
VLPEGKIVPNTVFVGGIDARMDETEIGSCFGRYGSVKEVKIITNRTGVSKGYGFVSFVND
VDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPPPPQFQNVWRNPNTET
YLQPQITPNPVTQHVQAYSAYPHSPGQVITGCQLLVYNYQEYPTYPDSAFQVTTGYQLPV
YNYQPFPAYPRSPFQVTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQPFPAYPSS
PFQVTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTTGYQLPV
YNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPNSAVQVTTGYQFHVYNYQMPPQCPVG
EQRRNLWTEAYKWWYLVCLIQRRD
Sequence length 744
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Non-obstructive azoospermia Non-obstructive azoospermia rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Oligospermia Oligospermia rs1602125411, rs377712900
Show/Hide Text Mining Associations (16)
Associations from Text Mining
Disease Name Relationship Type References
Azoospermia Associate 10360905, 10439009, 11532470, 16580401, 26149076, 9091344
Azoospermia Inhibit 22648284
Azoospermia Nonobstructive Associate 10685522, 10856465
Cryptorchidism Associate 15066457
Infertility Associate 19865085, 20576090
Infertility Male Associate 10975411, 15066457, 21948751, 28521575, 37365340
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa Associate 15066460
Neoplasms Associate 25994570
Neoplasms Germ Cell and Embryonal Associate 24728569
Oligospermia Associate 10360905, 10685522, 16580401, 16805138, 26149076, 9091344, 9391878