No CSI details found for gene ID: 1761

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: 1813019202

Symbol: DMRT1_HUMAN

Name: Doublesex- and mab-3-related transcription factor 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10332030

Title: A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.

PubMed ID: 10332030

DOI: 10.1093/hmg/8.6.989

PubMed ID: 10857744

Title: A new submicroscopic deletion that refines the 9p region for sex reversal.

PubMed ID: 10857744

DOI: 10.1006/geno.2000.6160

PubMed ID: 16617334

Title: Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis.

PubMed ID: 16617334

DOI: 10.1038/sj.cr.7310050

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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: 9718346

Title: A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.

PubMed ID: 9718346

DOI: 10.1086/302016

PubMed ID: 9490411

Title: Evidence for evolutionary conservation of sex-determining genes.

PubMed ID: 9490411

DOI: 10.1038/35618

PubMed ID: 20543847

Title: Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.

PubMed ID: 20543847

DOI: 10.1038/ng.607

PubMed ID: 21048976

Title: Identification of de novo copy number variants associated with human disorders of sexual development.

PubMed ID: 21048976

DOI: 10.1371/journal.pone.0015392

PubMed ID: 23436708

Title: Scanning of novel cancer/testis proteins by human testis proteomic analysis.

PubMed ID: 23436708

DOI: 10.1002/pmic.201200489

Sequence Information:

  • Length: 373
  • Mass: 39473
  • Checksum: 23348B2C4A4733A1
  • Sequence:
  • MPNDEAFSKP STPSEAPHAP GVPPQGRAGG FGKASGALVG AASGSSAGGS SRGGGSGSGA 
    SDLGAGSKKS PRLPKCARCR NHGYASPLKG HKRFCMWRDC QCKKCNLIAE RQRVMAAQVA 
    LRRQQAQEEE LGISHPIPLP SAAELLVKRE NNGSNPCLMT ECSGTSQPPP ASVPTTAASE 
    GRMVIQDIPA VTSRGHVENT PDLVSDSTYY SSFYQPSLFP YYNNLYNCPQ YSMALAADSA 
    SGEVGNPLGG SPVKNSLRGL PGPYVPGQTG NQWQMKNMEN RHAMSSQYRM HSYYPPPSYL 
    GQSVPQFFTF EDAPSYPEAR ASVFSPPSSQ DSGLVSLSSS SPISNKSTKA VLECEPASEP 
    SSFTVTPVIE EDE
 
                
                    {
    "geneID": 1761,
    "tax": {
        "id": 9606,
        "name": [
            {
                "name": "Homo sapiens Linnaeus 1758"
            },
            {
                "name": "Homo sapiens",
                "type": 0
            },
            {
                "name": "human",
                "type": 4
            }
        ]
    },
    "accession": {
        "gene": [
            "AL136365.9"
        ]
    },
    "genePos": {
        "start": 841697,
        "end": 969090
    },
    "orientation": true,
    "symbol": "DMRT1",
    "created": {
        "$date": {
            "$numberLong": "1738333348765"
        }
    },
    "crossReference": {
        "enseGeneID": "ENSG00000137090",
        "enseRnaID": [
            "ENST00000382276.8"
        ],
        "enseProtID": [
            "ENSP00000371711.3"
        ]
    },
    "chrom": {
        "pos": "9",
        "type": 1,
        "loc": "9p24.3"
    },
    "desc": "doublesex and mab-3 related transcription factor 1",
    "geneType": 5,
    "mim": [
        {
            "id": 602424,
            "relation": 0
        }
    ],
    "ontology": [
        {
            "id": "R-HSA-1266738",
            "term": "Developmental Biology",
            "cat": 10
        },
        {
            "id": "R-HSA-9690406",
            "term": "Transcriptional regulation of testis differentiation",
            "cat": 11
        },
        {
            "id": "GO:0000978",
            "term": "RNA polymerase II cis-regulatory region sequence-specific DNA binding",
            "cat": 0
        },
        {
            "id": "GO:0000981",
            "term": "DNA-binding transcription factor activity, RNA polymerase II-specific",
            "cat": 0
        },
        {
            "id": "GO:0000987",
            "term": "cis-regulatory region sequence-specific DNA binding",
            "cat": 0
        },
        {
            "id": "GO:0001228",
            "term": "DNA-binding transcription activator activity, RNA polymerase II-specific",
            "cat": 0
        },
        {
            "id": "GO:0003682",
            "term": "chromatin binding",
            "cat": 0
        },
        {
            "id": "GO:0042802",
            "term": "identical protein binding",
            "pubMed": [
                26005864
            ],
            "cat": 0
        },
        {
            "id": "GO:0046872",
            "term": "metal ion binding",
            "cat": 0
        },
        {
            "id": "GO:1990837",
            "term": "sequence-specific double-stranded DNA binding",
            "pubMed": [
                28473536
            ],
            "cat": 0
        },
        {
            "id": "GO:0000122",
            "term": "negative regulation of transcription by RNA polymerase II",
            "cat": 1
        },
        {
            "id": "GO:0000902",
            "term": "cell morphogenesis",
            "cat": 1
        },
        {
            "id": "GO:0002176",
            "term": "male germ cell proliferation",
            "cat": 1
        },
        {
            "id": "GO:0006357",
            "term": "regulation of transcription by RNA polymerase II",
            "cat": 1
        },
        {
            "id": "GO:0007127",
            "term": "meiosis I",
            "cat": 1
        },
        {
            "id": "GO:0007283",
            "term": "spermatogenesis",
            "cat": 1
        },
        {
            "id": "GO:0007548",
            "term": "sex differentiation",
            "cat": 1
        },
        {
            "id": "GO:0008354",
            "term": "germ cell migration",
            "cat": 1
        },
        {
            "id": "GO:0030238",
            "term": "male sex determination",
            "cat": 1
        },
        {
            "id": "GO:0035556",
            "term": "intracellular signal transduction",
            "cat": 1
        },
        {
            "id": "GO:0045835",
            "term": "negative regulation of meiotic nuclear division",
            "cat": 1
        },
        {
            "id": "GO:0045840",
            "term": "positive regulation of mitotic nuclear division",
            "cat": 1
        },
        {
            "id": "GO:0045944",
            "term": "positive regulation of transcription by RNA polymerase II",
            "cat": 1
        },
        {
            "id": "GO:0046661",
            "term": "male sex differentiation",
            "cat": 1
        },
        {
            "id": "GO:0048599",
            "term": "oocyte development",
            "cat": 1
        },
        {
            "id": "GO:0060008",
            "term": "Sertoli cell differentiation",
            "cat": 1
        },
        {
            "id": "GO:0060009",
            "term": "Sertoli cell development",
            "cat": 1
        },
        {
            "id": "GO:0060903",
            "term": "positive regulation of meiosis I",
            "cat": 1
        },
        {
            "id": "GO:1900107",
            "term": "regulation of nodal signaling pathway",
            "cat": 1
        },
        {
            "id": "GO:2000020",
            "term": "positive regulation of male gonad development",
            "cat": 1
        },
        {
            "id": "GO:0000785",
            "term": "chromatin",
            "cat": 2
        },
        {
            "id": "GO:0001674",
            "term": "female germ cell nucleus",
            "cat": 2
        },
        {
            "id": "GO:0005634",
            "term": "nucleus",
            "cat": 2
        },
        {
            "id": "GO:0005634",
            "term": "nucleus",
            "pubMed": [
                22899867
            ],
            "cat": 2
        },
        {
            "id": "GO:0005737",
            "term": "cytoplasm",
            "cat": 2
        }
    ],
    "protein": [
        {
            "symbol": "DMRT1_HUMAN",
            "name": "Doublesex- and mab-3-related transcription factor 1",
            "accession": [
                "Q9Y5R6",
                "B2R913",
                "Q6T1H8",
                "Q6T1H9",
                "Q8IW77"
            ],
            "databaseIDs": {
                "NCBI Taxonomy": [
                    "9606"
                ],
                "MIM": [
                    "273300",
                    "154230",
                    "154230",
                    "273300",
                    "602424"
                ],
                "EMBL": [
                    "AF130728",
                    "AL162131",
                    "AY442914",
                    "AY442915",
                    "AK313594",
                    "AJ276801",
                    "AL136365",
                    "CH471071",
                    "BC040847"
                ],
                "CCDS": [
                    "CCDS6442.1"
                ],
                "RefSeq": [
                    "NP_068770.2"
                ],
                "PDB": [
                    "4YJ0"
                ],
                "PDBsum": [
                    "4YJ0"
                ],
                "AlphaFoldDB": [
                    "Q9Y5R6"
                ],
                "SMR": [
                    "Q9Y5R6"
                ],
                "BioGRID": [
                    "108101"
                ],
                "DIP": [
                    "DIP-58084N"
                ],
                "IntAct": [
                    "Q9Y5R6"
                ],
                "MINT": [
                    "Q9Y5R6"
                ],
                "STRING": [
                    "9606.ENSP00000371711"
                ],
                "iPTMnet": [
                    "Q9Y5R6"
                ],
                "PhosphoSitePlus": [
                    "Q9Y5R6"
                ],
                "BioMuta": [
                    "DMRT1"
                ],
                "DMDM": [
                    "83305820"
                ],
                "MassIVE": [
                    "Q9Y5R6"
                ],
                "PaxDb": [
                    "9606-ENSP00000371711"
                ],
                "PeptideAtlas": [
                    "Q9Y5R6"
                ],
                "ProteomicsDB": [
                    "86485",
                    "86486",
                    "86487"
                ],
                "Antibodypedia": [
                    "23777"
                ],
                "DNASU": [
                    "1761"
                ],
                "Ensembl": [
                    "ENST00000382276.8"
                ],
                "KEGG": [
                    "hsa:1761"
                ],
                "MANE-Select": [
                    "ENST00000382276.8"
                ],
                "UCSC": [
                    "uc003zgv.5"
                ],
                "AGR": [
                    "HGNC:2934"
                ],
                "CTD": [
                    "1761"
                ],
                "DisGeNET": [
                    "1761"
                ],
                "GeneCards": [
                    "DMRT1"
                ],
                "GeneReviews": [
                    "DMRT1"
                ],
                "HGNC": [
                    "HGNC:2934"
                ],
                "HPA": [
                    "ENSG00000137090"
                ],
                "MalaCards": [
                    "DMRT1"
                ],
                "neXtProt": [
                    "NX_Q9Y5R6"
                ],
                "OpenTargets": [
                    "ENSG00000137090"
                ],
                "Orphanet": [
                    "242"
                ],
                "PharmGKB": [
                    "PA27381"
                ],
                "VEuPathDB": [
                    "HostDB:ENSG00000137090"
                ],
                "eggNOG": [
                    "KOG3815"
                ],
                "GeneTree": [
                    "ENSGT00940000156489"
                ],
                "HOGENOM": [
                    "CLU_069148_0_0_1"
                ],
                "InParanoid": [
                    "Q9Y5R6"
                ],
                "OMA": [
                    "CLMTECS"
                ],
                "OrthoDB": [
                    "5358564at2759"
                ],
                "PhylomeDB": [
                    "Q9Y5R6"
                ],
                "TreeFam": [
                    "TF317837"
                ],
                "PathwayCommons": [
                    "Q9Y5R6"
                ],
                "Reactome": [
                    "R-HSA-9690406"
                ],
                "SignaLink": [
                    "Q9Y5R6"
                ],
                "BioGRID-ORCS": [
                    "1761"
                ],
                "EvolutionaryTrace": [
                    "Q9Y5R6"
                ],
                "GeneWiki": [
                    "DMRT1"
                ],
                "GenomeRNAi": [
                    "1761"
                ],
                "Pharos": [
                    "Q9Y5R6"
                ],
                "PRO": [
                    "PR:Q9Y5R6"
                ],
                "Proteomes": [
                    "UP000005640"
                ],
                "RNAct": [
                    "Q9Y5R6"
                ],
                "Bgee": [
                    "ENSG00000137090"
                ],
                "ExpressionAtlas": [
                    "Q9Y5R6"
                ],
                "GO": [
                    "GO:0000785",
                    "GO:0005737",
                    "GO:0001674",
                    "GO:0005634",
                    "GO:0003682",
                    "GO:0000987",
                    "GO:0001228",
                    "GO:0000981",
                    "GO:0042802",
                    "GO:0046872",
                    "GO:0000978",
                    "GO:1990837",
                    "GO:0000902",
                    "GO:0008354",
                    "GO:0035556",
                    "GO:0002176",
                    "GO:0030238",
                    "GO:0046661",
                    "GO:0007127",
                    "GO:0045835",
                    "GO:0000122",
                    "GO:0048599",
                    "GO:2000020",
                    "GO:0060903",
                    "GO:0045840",
                    "GO:0045944",
                    "GO:1900107",
                    "GO:0006357",
                    "GO:0060009",
                    "GO:0060008",
                    "GO:0007548",
                    "GO:0007283"
                ],
                "Gene3D": [
                    "4.10.1040.10"
                ],
                "InterPro": [
                    "IPR001275",
                    "IPR036407",
                    "IPR026607",
                    "IPR022114"
                ],
                "PANTHER": [
                    "PTHR12322",
                    "PTHR12322:SF70"
                ],
                "Pfam": [
                    "PF00751",
                    "PF12374"
                ],
                "SMART": [
                    "SM00301"
                ],
                "SUPFAM": [
                    "SSF82927"
                ],
                "PROSITE": [
                    "PS40000",
                    "PS50809"
                ]
            },
            "citations": [
                {
                    "title": "A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.",
                    "pubmedID": "10332030",
                    "doi": "10.1093\/hmg\/8.6.989"
                },
                {
                    "title": "A new submicroscopic deletion that refines the 9p region for sex reversal.",
                    "pubmedID": "10857744",
                    "doi": "10.1006\/geno.2000.6160"
                },
                {
                    "title": "Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis.",
                    "pubmedID": "16617334",
                    "doi": "10.1038\/sj.cr.7310050"
                },
                {
                    "title": "Complete sequencing and characterization of 21,243 full-length human cDNAs.",
                    "pubmedID": "14702039",
                    "doi": "10.1038\/ng1285"
                },
                {
                    "title": "DNA sequence and analysis of human chromosome 9.",
                    "pubmedID": "15164053",
                    "doi": "10.1038\/nature02465"
                },
                {
                    "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": "A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.",
                    "pubmedID": "9718346",
                    "doi": "10.1086\/302016"
                },
                {
                    "title": "Evidence for evolutionary conservation of sex-determining genes.",
                    "pubmedID": "9490411",
                    "doi": "10.1038\/35618"
                },
                {
                    "title": "Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.",
                    "pubmedID": "20543847",
                    "doi": "10.1038\/ng.607"
                },
                {
                    "title": "Identification of de novo copy number variants associated with human disorders of sexual development.",
                    "pubmedID": "21048976",
                    "doi": "10.1371\/journal.pone.0015392"
                },
                {
                    "title": "Scanning of novel cancer\/testis proteins by human testis proteomic analysis.",
                    "pubmedID": "23436708",
                    "doi": "10.1002\/pmic.201200489"
                }
            ],
            "sequence": {
                "length": 373,
                "mass": 39473,
                "checksum": "23348B2C4A4733A1",
                "modified": {
                    "$date": {
                        "$numberLong": "1115683200000"
                    }
                },
                "version": 2,
                "sequence": "MPNDEAFSKPSTPSEAPHAPGVPPQGRAGGFGKASGALVGAASGSSAGGSSRGGGSGSGASDLGAGSKKSPRLPKCARCRNHGYASPLKGHKRFCMWRDCQCKKCNLIAERQRVMAAQVALRRQQAQEEELGISHPIPLPSAAELLVKRENNGSNPCLMTECSGTSQPPPASVPTTAASEGRMVIQDIPAVTSRGHVENTPDLVSDSTYYSSFYQPSLFPYYNNLYNCPQYSMALAADSASGEVGNPLGGSPVKNSLRGLPGPYVPGQTGNQWQMKNMENRHAMSSQYRMHSYYPPPSYLGQSVPQFFTFEDAPSYPEARASVFSPPSSQDSGLVSLSSSSPISNKSTKAVLECEPASEPSSFTVTPVIEEDE"
            },
            "existence": 0,
            "relevance": 1,
            "proteinID": 1813019202
        }
    ],
    "singleCellExpressions": {
        "cellSignificanceIndex": []
    }
}