Gene Gene information from NCBI Gene database.
Entrez ID 7227
Gene name Transcriptional repressor GATA binding 1
Gene symbol TRPS1
Synonyms (NCBI Gene)
GC79LGCR
Chromosome 8
Chromosome location 8q23.3
Summary This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcr
SNPs SNP information provided by dbSNP.
67
SNP ID Visualize variation Clinical significance Consequence
rs28939069 G>A Pathogenic Coding sequence variant, missense variant
rs28939070 C>T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs121908430 G>T Pathogenic Stop gained, coding sequence variant
rs121908431 G>A,C Pathogenic Missense variant, stop gained, coding sequence variant
rs121908432 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1502
miRTarBase ID miRNA Experiments Reference
MIRT000092 hsa-miR-302d-3p Luciferase reporter assayMicroarray 19229866
MIRT000092 hsa-miR-302d-3p Luciferase reporter assayMicroarray 19229866
MIRT000092 hsa-miR-302d-3p Luciferase reporter assayMicroarray 19229866
MIRT000058 hsa-miR-372-3p Luciferase reporter assayMicroarray 19229866
MIRT006841 hsa-miR-221-3p ImmunofluorescenceImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCRWestern blot 21673316
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
AR Unknown 15613454
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12885770, 14680804, 21673316
GO:0000785 Component Chromatin IDA 21673316
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 14680804
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 14680804
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604386 12340 ENSG00000104447
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHF7
Protein name Zinc finger transcription factor Trps1 (Tricho-rhino-phalangeal syndrome type I protein) (Zinc finger protein GC79)
Protein function Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple f
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00320 GATA 896 930 GATA zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in the adult. Found in fetal brain, lung, kidney, liver, spleen and thymus. More highly expressed in androgen-dependent than in androgen-independent prostate cancer cells.
Sequence
MVRKKNPPLRNVASEGEGQILEPIGTESKVSGKNKEFSADQMSENTDQSDAAELNHKEEH
SLHVQDPSSSSKKDLKSAVLSEKAGFNYESPSKGGNFPSFPHDEVTDRNMLAFSSPAAGG
VCEPLKSPQRAEADDPQDMACTPSGDSLETKEDQKMSPKATEETGQAQSGQANCQGLSPV
SVASKNPQVPSDGGVRLNKSKTDLLVNDNPDPAPLSPELQDFKCNICGYGYYGNDPTDLI
KHFRKYHLGLHNRTRQDAELDSKILALHNMVQFSHSKDFQKVNRSVFSGVLQDINSSRPV
LLNGTYDVQVTSGGTFIGIGRKTPDCQGNTKYFRCKFCNFTYMGNSSTELEQHFLQTHPN
KIKASLPSSEVAKPSEKNSNKSIPALQSSDSGDLGKWQDKITVKAGDDTPVGYSVPIKPL
DSSRQNGTEATSYYWCKFCSFSCESSSSLKLLEHYGKQHGAVQSGGLNPELNDKLSRGSV
INQNDLAKSSEGETMTKTDKSSSGAKKKDFSSKGAEDNMVTSYNCQFCDFRYSKSHGPDV
IVVGPLLRHYQQLHNIHKCTIKHCPFCPRGLCSPEKHLGEITYPFACRKSNCSHCALLLL
HLSPGAAGSSRVKHQCHQCSFTTPDVDVLLFHYESVHESQASDVKQEANHLQGSDGQQSV
KESKEHSCTKCDFITQVEEEISRHYRRAHSCYKCRQCSFTAADTQSLLEHFNTVHCQEQD
ITTANGEEDGHAISTIKEEPKIDFRVYNLLTPDSKMGEPVSESVVKREKLEEKDGLKEKV
WTESSSDDLRNVTWRGADILRGSPSYTQASLGLLTPVSGTQEQTKTLRDSPNVEAAHLAR
PIYGLAVETKGFLQGAPAGGEKSGALPQQYPASGENKSKDESQSLLRRRRGSGVFCANCL
TTKTSLWRKNANGGYVCNACGLYQKLHSTP
RPLNIIKQNNGEQIIRRRTRKRLNPEALQA
EQLNKQQRGSNEEQVNGSPLERRSEDHLTESHQREIPLPSLSKYEAQGSLTKSHSAQQPV
LVSQTLDIHKRMQPLHIQIKSPQESTGDPGNSSSVSEGKGSSERGSPIEKYMRPAKHPNY
SPPGSPIEKYQYPLFGLPFVHNDFQSEADWLRFWSKYKLSVPGNPHYLSHVPGLPNPCQN
YVPYPTFNLPPHFSAVGSDNDIPLDLAIKHSRPGPTANGASKEKTKAPPNVKNEGPLNVV
KTEKVDRSTQDELSTKCVHCGIVFLDEVMYALHMSCHGDSGPFQCSICQHLCTDKYDFTT
HIQRGLHRNNAQVEKNGKPKE
Sequence length 1281
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
967
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alopecia areata Likely pathogenic; Pathogenic rs1057518972 RCV000415011
Brachydactyly Likely pathogenic; Pathogenic rs1057518972 RCV000415011
Congenital anomaly of kidney and urinary tract Pathogenic rs121908436 RCV001849257
Langer-Giedion syndrome Pathogenic rs886040971, rs1554617582 RCV000856743
RCV000856768
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs2721940 RCV005919997
Familial cancer of breast - rs800898 RCV006004380
Metaphyseal chondrodysplasia Conflicting classifications of pathogenicity rs1554617580 RCV003883488
Microcephaly Uncertain significance; Likely benign rs778946343, rs745384526, rs1818352674 RCV001252763
RCV001252777
RCV001252870
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 36399408, 38052269
Adenocarcinoma of Lung Associate 36399408
Adenoma Pleomorphic Associate 32345665
Anxiety Associate 28256045
Brachydactyly Associate 24448126, 30914275, 34897794
Brachydactyly Type E Associate 29499646, 30914275
Breast Neoplasms Associate 14997205, 21761348, 23260012, 23729783, 23776679, 24595984, 24934762, 25277197, 26183398, 28423734, 30380416, 33011748, 36399408, 37074839, 37406296
View all (5 more)
Carcinogenesis Associate 26183398
Carcinoma Hepatocellular Associate 33015773
Carcinoma Renal Cell Associate 33011748