Details Currently Unavailable
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AI-Generated Summary
Disclaimer: This summary is AI-generated based on limited data and may be speculative or contain inaccuracies. Detailed expression analysis for this entry is unavailable.
Raw Database JSON for Gene ID: 1617
{
"geneID": 1617,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"AC010088.4"
]
},
"genePos": {
"start": 5085,
"end": 74738
},
"orientation": false,
"symbol": "DAZ1",
"created": {
"$date": {
"$numberLong": "1738333348762"
}
},
"crossReference": {
"enseGeneID": "ENSG00000188120",
"enseRnaID": [
"ENST00000540248.5"
],
"enseProtID": [
"ENSP00000444407.1"
]
},
"chrom": {
"loc": "Yq11.223"
},
"desc": "deleted in azoospermia 1",
"geneType": 5,
"mim": [
{
"id": 400003,
"relation": 0
}
],
"ontology": [
{
"id": "GO:0003730",
"term": "mRNA 3'-UTR binding",
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
10857750,
12511597,
15081113,
16001084
],
"cat": 0
},
{
"id": "GO:0008494",
"term": "translation activator activity",
"cat": 0
},
{
"id": "GO:0008494",
"term": "translation activator activity",
"pubMed": [
16001084
],
"cat": 0
},
{
"id": "GO:0007283",
"term": "spermatogenesis",
"cat": 1
},
{
"id": "GO:0030154",
"term": "cell differentiation",
"cat": 1
},
{
"id": "GO:0045948",
"term": "positive regulation of translational initiation",
"cat": 1
},
{
"id": "GO:0045948",
"term": "positive regulation of translational initiation",
"pubMed": [
16001084
],
"cat": 1
},
{
"id": "GO:0070935",
"term": "3'-UTR-mediated mRNA stabilization",
"cat": 1
},
{
"id": "GO:0005634",
"term": "nucleus",
"pubMed": [
15081113
],
"cat": 2
},
{
"id": "GO:0005737",
"term": "cytoplasm",
"cat": 2
},
{
"id": "GO:0005737",
"term": "cytoplasm",
"pubMed": [
15081113
],
"cat": 2
},
{
"id": "GO:0032991",
"term": "protein-containing complex",
"pubMed": [
10857750
],
"cat": 2
}
],
"protein": [
{
"symbol": "DAZ1_HUMAN",
"name": "Deleted in azoospermia protein 1",
"accession": [
"Q9NQZ3",
"Q1RMF9",
"Q9NQZ4"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"MIM": [
"415000",
"400003",
"415000"
],
"EMBL": [
"AC010088",
"AC053490",
"AC006338",
"BC114927",
"AF271087",
"AF271088"
],
"CCDS": [
"CCDS48209.1"
],
"RefSeq": [
"NP_004072.3"
],
"AlphaFoldDB": [
"Q9NQZ3"
],
"BioGRID": [
"107986"
],
"IntAct": [
"Q9NQZ3"
],
"STRING": [
"9606.ENSP00000384573"
],
"iPTMnet": [
"Q9NQZ3"
],
"PhosphoSitePlus": [
"Q9NQZ3"
],
"BioMuta": [
"DAZ1"
],
"DMDM": [
"44887841"
],
"MassIVE": [
"Q9NQZ3"
],
"PeptideAtlas": [
"Q9NQZ3"
],
"ProteomicsDB": [
"61241"
],
"Antibodypedia": [
"21891"
],
"DNASU": [
"1617"
],
"Ensembl": [
"ENST00000405239.6"
],
"KEGG": [
"hsa:1617"
],
"MANE-Select": [
"ENST00000405239.6"
],
"UCSC": [
"uc004fvl.4"
],
"AGR": [
"HGNC:2682"
],
"CTD": [
"1617"
],
"DisGeNET": [
"1617"
],
"GeneCards": [
"DAZ1"
],
"GeneReviews": [
"DAZ1"
],
"HGNC": [
"HGNC:2682"
],
"HPA": [
"ENSG00000188120"
],
"MalaCards": [
"DAZ1"
],
"neXtProt": [
"NX_Q9NQZ3"
],
"OpenTargets": [
"ENSG00000188120"
],
"Orphanet": [
"1646"
],
"PharmGKB": [
"PA27149"
],
"VEuPathDB": [
"HostDB:ENSG00000188120"
],
"GeneTree": [
"ENSGT00530000063480"
],
"HOGENOM": [
"CLU_022076_0_0_1"
],
"InParanoid": [
"Q9NQZ3"
],
"OrthoDB": [
"4705505at2759"
],
"PhylomeDB": [
"Q9NQZ3"
],
"TreeFam": [
"TF324396"
],
"PathwayCommons": [
"Q9NQZ3"
],
"SignaLink": [
"Q9NQZ3"
],
"BioGRID-ORCS": [
"1617"
],
"ChiTaRS": [
"DAZ1"
],
"GeneWiki": [
"DAZ1"
],
"GenomeRNAi": [
"1617"
],
"Pharos": [
"Q9NQZ3"
],
"PRO": [
"PR:Q9NQZ3"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"Q9NQZ3"
],
"Bgee": [
"ENSG00000188120"
],
"ExpressionAtlas": [
"Q9NQZ3"
],
"GO": [
"GO:0005737",
"GO:0005634",
"GO:0032991",
"GO:0003730",
"GO:0008494",
"GO:0070935",
"GO:0030154",
"GO:0045948",
"GO:0007283"
],
"CDD": [
"cd12672"
],
"Gene3D": [
"3.30.70.330"
],
"InterPro": [
"IPR043628",
"IPR037551",
"IPR012677",
"IPR035979",
"IPR000504"
],
"PANTHER": [
"PTHR11176",
"PTHR11176:SF8"
],
"Pfam": [
"PF18872",
"PF00076"
],
"SMART": [
"SM00360"
],
"SUPFAM": [
"SSF54928"
],
"PROSITE": [
"PS51890",
"PS50102"
]
},
"citations": [
{
"title": "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.",
"pubmedID": "12815422",
"doi": "10.1038/nature01722"
},
{
"title": "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).",
"pubmedID": "15489334",
"doi": "10.1101/gr.2596504"
},
{
"title": "Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome.",
"pubmedID": "10936047",
"doi": "10.1006/geno.2000.6260"
},
{
"title": "Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1.",
"pubmedID": "10857750",
"doi": "10.1006/geno.2000.6169"
},
{
"title": "DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice.",
"pubmedID": "11058556",
"doi": "10.1095/biolreprod63.5.1490"
},
{
"title": "In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein.",
"pubmedID": "10903443",
"doi": "10.1016/s0378-1119(00)00219-5"
},
{
"title": "A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans.",
"pubmedID": "11390979",
"doi": "10.1073/pnas.131090498"
},
{
"title": "Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins.",
"pubmedID": "12511597",
"doi": "10.1073/pnas.0234478100"
},
{
"title": "Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis?",
"pubmedID": "12752250",
"doi": "10.1034/j.1600-0463.2003.11101161.x"
},
{
"title": "Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome.",
"pubmedID": "11095434",
"doi": "10.1210/jcem.85.11.6929"
},
{
"title": "High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia.",
"pubmedID": "11870237",
"doi": "10.1093/molehr/8.3.286"
},
{
"title": "Partial DAZ deletions in a family with five infertile brothers.",
"pubmedID": "12801575",
"doi": "10.1016/s0015-0282(03)00338-8"
},
{
"title": "Copy number of DAZ genes in infertile men.",
"pubmedID": "16275261",
"doi": "10.1016/j.fertnstert.2005.06.021"
},
{
"title": "Restricted expression of the human DAZ protein in premeiotic germ cells.",
"pubmedID": "18385127",
"doi": "10.1093/humrep/den099"
},
{
"title": "Polymorphic expression of DAZ proteins in the human testis.",
"pubmedID": "19223287",
"doi": "10.1093/humrep/dep032"
},
{
"title": "Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation.",
"pubmedID": "19865085",
"doi": "10.1038/nature08562"
}
],
"sequence": {
"length": 744,
"mass": 82764,
"checksum": "341CB19EFC82F757",
"modified": {
"$date": {
"$numberLong": "1078099200000"
}
},
"version": 2,
"sequence": "MSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCFGRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPPPPQFQNVWRNPNTETYLQPQITPNPVTQHVQSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCFGRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPPPPQFQNVWRNPNTETYLQPQITPNPVTQHVQSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCFGRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPPPPQFQNVWRNPNTETYLQPQITPNPVTQHVQAYSAYPHSPGQVITGCQLLVYNYQEYPTYPDSAFQVTTGYQLPVYNYQPFPAYPRSPFQVTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQPFPAYPSSPFQVTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPNSAVQVTTGYQFHVYNYQMPPQCPVGEQRRNLWTEAYKWWYLVCLIQRRD"
},
"existence": 0,
"relevance": 1,
"proteinID": 4224715830
}
]
}