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TRPS1 (transcriptional repressor GATA binding 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7227
Gene nameGene Name - the full gene name approved by the HGNC.
Transcriptional repressor GATA binding 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TRPS1
SynonymsGene synonyms aliases
GC79, LGCR
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q23.3
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 21873635
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
Causal
Disease name Disease term dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 31174203
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Unknown
Disease name Disease term dbSNP ID References
Alopecia Alopecia 28196072
Alopecia areata Alopecia Areata
Anaplastic carcinoma Anaplastic carcinoma 16316942
Atresia of nasolacrimal duct Atresia of nasolacrimal duct

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