No CSI details found for gene ID: 1617
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 4224715830
Symbol: DAZ1_HUMAN
Name: Deleted in azoospermia protein 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12815422
Title: The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
PubMed ID: 12815422
DOI: 10.1038/nature01722
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 10936047
Title: Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome.
PubMed ID: 10936047
PubMed ID: 10857750
Title: Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1.
PubMed ID: 10857750
PubMed ID: 11058556
Title: DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice.
PubMed ID: 11058556
PubMed ID: 10903443
Title: In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein.
PubMed ID: 10903443
PubMed ID: 11390979
Title: A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans.
PubMed ID: 11390979
PubMed ID: 12511597
Title: Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins.
PubMed ID: 12511597
PubMed ID: 12752250
Title: Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis?
PubMed ID: 12752250
PubMed ID: 11095434
Title: Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome.
PubMed ID: 11095434
PubMed ID: 11870237
Title: High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia.
PubMed ID: 11870237
PubMed ID: 12801575
Title: Partial DAZ deletions in a family with five infertile brothers.
PubMed ID: 12801575
PubMed ID: 16275261
Title: Copy number of DAZ genes in infertile men.
PubMed ID: 16275261
PubMed ID: 18385127
Title: Restricted expression of the human DAZ protein in premeiotic germ cells.
PubMed ID: 18385127
PubMed ID: 19223287
Title: Polymorphic expression of DAZ proteins in the human testis.
PubMed ID: 19223287
PubMed ID: 19865085
Title: Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation.
PubMed ID: 19865085
DOI: 10.1038/nature08562
Sequence Information:
- Length: 744
- Mass: 82764
- Checksum: 341CB19EFC82F757
- Sequence:
MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQSAAN PETPNSTISR EASTQSSSAA ASQGWVLPEG KIVPNTVFVG GIDARMDETE IGSCFGRYGS VKEVKIITNR TGVSKGYGFV SFVNDVDVQK IVGSQIHFHG KKLKLGPAIR KQKLCARHVQ PRPLVVNPPP PPQFQNVWRN PNTETYLQPQ ITPNPVTQHV QSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA YPHSPGQVIT GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF PAYPNSAVQV TTGYQFHVYN YQMPPQCPVG EQRRNLWTEA YKWWYLVCLI QRRD
Details Unavailable
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{
"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
}
]
}