Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7227
Gene name Gene Name - the full gene name approved by the HGNC.
Transcriptional repressor GATA binding 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRPS1
Synonyms (NCBI Gene) Gene synonyms aliases
GC79, LGCR
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT000092 hsa-miR-302d-3p Luciferase reporter assay, Microarray 19229866
MIRT000092 hsa-miR-302d-3p Luciferase reporter assay, Microarray 19229866
MIRT000092 hsa-miR-302d-3p Luciferase reporter assay, Microarray 19229866
MIRT000058 hsa-miR-372-3p Luciferase reporter assay, Microarray 19229866
MIRT006841 hsa-miR-221-3p Immunofluorescence, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21673316
Transcription factors
Transcription factor Regulation Reference
AR Unknown 15613454
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604386 12340 ENSG00000104447
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Trichorhinophalangeal Dysplasia trichorhinophalangeal syndrome, type iii, trichorhinophalangeal dysplasia type i rs121908435, rs1057518972, rs1586430715, rs1586431903, rs121908436, rs1554617011, rs1812971156, rs121908430, rs751565386, rs121908431, rs1554617573, rs2130444636, rs28939069, rs1554595930, rs2130444402
View all (12 more)
N/A
Congenital anomalies of kidney and urinary tract Congenital anomaly of kidney and urinary tract rs121908436 N/A
Langer-Giedion Syndrome langer-giedion syndrome rs1554617582, rs886040971 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Actinic keratosis Actinic keratosis N/A N/A GWAS
Breast cancer Breast cancer N/A N/A GWAS
Carcinoma Basal cell carcinoma, Squamous cell carcinoma N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Associations from Text Mining Disease 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