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

DOI: 10.1006/geno.2000.6260

PubMed ID: 10857750

Title: Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1.

PubMed ID: 10857750

DOI: 10.1006/geno.2000.6169

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

DOI: 10.1095/biolreprod63.5.1490

PubMed ID: 10903443

Title: In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein.

PubMed ID: 10903443

DOI: 10.1016/s0378-1119(00)00219-5

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

DOI: 10.1073/pnas.131090498

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

DOI: 10.1073/pnas.0234478100

PubMed ID: 12752250

Title: Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis?

PubMed ID: 12752250

DOI: 10.1034/j.1600-0463.2003.11101161.x

PubMed ID: 11095434

Title: Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome.

PubMed ID: 11095434

DOI: 10.1210/jcem.85.11.6929

PubMed ID: 11870237

Title: High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia.

PubMed ID: 11870237

DOI: 10.1093/molehr/8.3.286

PubMed ID: 12801575

Title: Partial DAZ deletions in a family with five infertile brothers.

PubMed ID: 12801575

DOI: 10.1016/s0015-0282(03)00338-8

PubMed ID: 16275261

Title: Copy number of DAZ genes in infertile men.

PubMed ID: 16275261

DOI: 10.1016/j.fertnstert.2005.06.021

PubMed ID: 18385127

Title: Restricted expression of the human DAZ protein in premeiotic germ cells.

PubMed ID: 18385127

DOI: 10.1093/humrep/den099

PubMed ID: 19223287

Title: Polymorphic expression of DAZ proteins in the human testis.

PubMed ID: 19223287

DOI: 10.1093/humrep/dep032

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
 
                
                    {
    "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
        }
    ]
}