TRPS1 - transcriptional repressor GATA binding 1 Gene

Also Known as GC79; LGCR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7227

About TRPS1

Cytogenetic location: 8q23.3 Genomic coordinates (GRCh38): 8:115,408,496-115,668,975 (from NCBI)

This gene has 12 transcripts (splice variants), 211 orthologues, 7 paralogues and is associated with 6 phenotypes. Ubiquitous expression in esophagus (RPKM 4.1), gall bladder (RPKM 3.6) and 24 other tissues.

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 transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

TRPS1 Products (4)

mRNA	Protein	Name
NM_001282902.3	NP_001269831.1	zinc finger transcription factor Trps1 isoform 2
NM_001282903.3	NP_001269832.1	zinc finger transcription factor Trps1 isoform 3
NM_001330599.2	NP_001317528.1	zinc finger transcription factor Trps1 isoform 4
NM_014112.5	NP_054831.2	zinc finger transcription factor Trps1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	14680804	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	14680804	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12885770	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	15491138	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12885770	GOA
involved in skeletal system development	IMP IMP: Inferred from mutant phenotype	10615131	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in chromatin	IDA IDA: Inferred from direct assay	21673316	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12885770	GOA
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	15491138	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRPS1 Protein Structure

GATA

0
200
400
600
800
1000
1200
1281 a.a.

Protein Preferred Names	Protein Names
zinc finger transcription factor Trps1	tricho-rhino-phalangeal syndrome type I protein

TRPS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Cross	TRPS1	Q9UHF7	ORF	Human immunodeficiency virus	Q9Q2G4	Pull Down	22190034

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Trichorhinophalangeal Syndrome, Type I	Trichorhinophalangeal Dysplasia Type I TRPS1 Trichorhinophalangeal Syndrome Type I Trps I Trichorhinophalangeal Syndrome Type 1 Type I Trichorhinophalangeal Syndrome Giedion Syndrome Trp Syndrome Tricho-Rhino-Phalangeal Syndrome 1 Trichorhinophalangeal Syndrome, Type Iii
Trichorhinophalangeal Syndrome, Type Iii	Trichorhinophalangeal Syndrome Type Iii TRPS3 Sugio-Kajii Syndrome Trichorhinophalangeal Syndrome Type 3 Trps 3 Tricho-Rhino-Phalangeal Syndrome 3
Trichorhinophalangeal Syndrome Type 1 And 3	Trichorhinophalangeal Syndrome Type I Or Iii
Trichorhinophalangeal Syndrome	Tricho-Rhino-Phalangeal Syndrome Trps
Trichorhinophalangeal Syndrome, Type Ii	Langer-Giedion Syndrome Lgs Trichorhinophalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome Type 2 TRPS2 Monosomy 8q24.1 Chromosome 8q24.1 Deletion Syndrome Deletion 8q24.1 Giedion-Langer Syndrome Trichorhinophalangeal Dysplasia Type Ii Langer Giedion Syndrome Trps 2 Tricho-Rhino-Phalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome With Exostosis Trps Ii Tricho-Rhino-Phalangeal Syndrome 2 8q24.1 Microdeletion Syndrome 8q24.1 Deletion Syndrome
Brachydactyly
Alopecia Areata	Aa Alopecia Celsi Alopecia Circumscripta Cazenave'S Vitiligo Celsus' Vitiligo Diffuse Alopecia Jonston'S Alopecia Marginal Alopecia Pseudopelade Circumscribed Alopecia Alopecia Cicatrisata Patchy Alopecia Alopecia Aa - [Alopecia Areata] Pelade
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Hereditary Multiple Exostoses	Multiple Congenital Exostosis Hereditary Multiple Exostoses 1 Hereditary Multiple Exostoses 2 Hereditary Multiple Exostoses 3 Multiple Exostosis Syndromes Multiple Ostechondromas Osteochondromatosis Syndrome Exostoses Multiple Hereditary Exostoses, Multiple Hereditary
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Hypertrichosis
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Cornelia De Lange Syndrome 4 CDLS4 Cornelia De Lange Syndrome, Type 4
Hypertrichosis Universalis Congenita, Ambras Type	Ambras Syndrome Hypertrichosis, Congenital Generalized HTC1 HTC2 Chromosome Xq27.1 Interchromosomal Insertion Syndrome Cgh Hcg Ambras Type Hypertrichosis Universalis Congenita X-Linked Congenital Generalized Hypertrichosis Congenital Generalized Hypertrichosis, Macias-Flores Type Macias Flores-Garcia Cruz-Rivera Syndrome Htc 1 Hypertrichosis Universalis Congenita Ambras Type Hypertrichosis Congenital Generalized X-Linked Macias-Flores Garcia-Cruz Rivera Syndrome Congenital Generalized Hypertrichosis, Ambras Type
Pseudohypoparathyroidism	Familial Pseudohypoparathyroidism Parathyroid Hormone Resistant Hypoparathyroidism Php - [Pseudohypoparathyroidism] Constitutional Chronic Hypocalcaemia
Hypertension And Brachydactyly Syndrome	Brachydactyly With Hypertension Bilginturan Syndrome HTNB Brachydactyly-Arterial Hypertension Syndrome Brachydactyly, Type E, With Short Stature And Hypertension Bilginturan Brachydactyly Brachydactyly Type E With Short Stature And Hypertension Type E Brachydactyly With Short Stature And Hypertension Brachydactyly Type E, With Short Stature And Hypertension Hypertension With Brachydactyly
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Retinitis Pigmentosa 56	RP56 Maculopathy, Impg2-Related MACLP-IMPG2 Retinitis Pigmentosa, Type 56
Neonatal Respiratory Failure	Respiratory Failure Of Newborn Inadequate Pulmonary Ventilation Of Newborn Newborn Lung Insufficiency Newborn Pulmonary Function Inadequate Newborn Pulmonary Insufficiency Newborn Respiration Failure Newborn Respiratory Insufficiency Respiratory Insufficiency Syndrome Of Newborn
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-D0168	Orcinol		99.97%	Unkown
HY-N2983	Cajanin	Inhibitor	99.96%	Unkown
HY-N10016	Chlorogenic acid butyl ester	Inhibitor	98.19%	Unkown
HY-134046	(-)-Isodocarpin	Inhibitor	99.78%	Unkown
HY-N0113A	Hordenine sulfate		/	Unkown
HY-RS15119	TRPS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-157010	AP736	Inhibitor	/	Unkown
HY-RS19749	Trps1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26246	Trps1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TRPS1	VGNC	VGNC:66593
Bos taurus	TRPS1	VGNC	VGNC:36395
Mus musculus	TRPS1	MGD	MGI:1927616
Macaca mulatta	TRPS1	VGNC	VGNC:78656
Canis familiaris	TRPS1	VGNC	VGNC:47880
Rattus norvegicus	TRPS1	RGD	RGD:1311883
Others	TRPS1	NCBI