U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TRPS1 transcriptional repressor GATA binding 1 [ Homo sapiens (human) ]

Gene ID: 7227, updated on 10-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
TRPS1provided by HGNC
Official Full Name
transcriptional repressor GATA binding 1provided by HGNC
Primary source
HGNC:HGNC:12340
See related
Ensembl:ENSG00000104447 MIM:604386; AllianceGenome:HGNC:12340
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GC79; LGCR
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]
Expression
Ubiquitous expression in esophagus (RPKM 4.1), gall bladder (RPKM 3.6) and 24 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
8q23.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (115408496..115668975, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (116535995..116796128, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (116420724..116681202, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cysteinyl-tRNA synthetase 1 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr8:115914616-115915205 Neighboring gene uncharacterized LOC107986901 Neighboring gene NANOG hESC enhancer GRCh37_chr8:116088942-116089443 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:116170487-116171394 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:116221425-116221969 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:116224145-116224754 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:116224755-116225364 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:116229053-116229886 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:116229887-116230719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27819 Neighboring gene VISTA enhancer hs919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27821 Neighboring gene TRPS1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr8:116577104-116577660 Neighboring gene Sharpr-MPRA regulatory region 6921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:116680959-116681500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:116765634-116766245 Neighboring gene uncharacterized LOC107986968 Neighboring gene uncharacterized LOC107986902

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant. Öztürk N, et al. Turk J Pediatr, 2023. PMID 36866988
  2. Immunohistochemical expression of TRPS1 in mammary Paget disease, extramammary Paget disease, and their close histopathologic mimics. Cho WC, et al. J Cutan Pathol, 2023 May. PMID 36808637
  3. The diagnostic utility of trichorhinophalangeal syndrome type 1 immunohistochemistry for metastatic breast carcinoma in effusion cytology specimens. Chen CJ, et al. Cancer Cytopathol, 2023 Apr. PMID 36399408
  4. Functional mechanisms of TRPS1 in disease progression and its potential role in personalized medicine. Yang L, et al. Pathol Res Pract, 2022 Sep. PMID 35863130
  5. Evaluation of TRPS1 Expression in Pleural Effusion Cytology Specimens With Metastatic Breast Carcinoma. Wang M, et al. Am J Clin Pathol, 2022 Sep 2. PMID 35760555

See all (146) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells.
    Title: TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells.
  2. TRPS1 and GATA3 Expression in Invasive Breast Carcinoma With Apocrine Differentiation.
    Title: TRPS1 and GATA3 Expression in Invasive Breast Carcinoma With Apocrine Differentiation.
  3. Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I.
    Title: Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I.
  4. Mucinous cystadenocarcinoma of the breast harbours TRPS1 expressions and PIK3CA alterations.
    Title: Mucinous cystadenocarcinoma of the breast harbours TRPS1 expressions and PIK3CA alterations.
  5. Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency.
    Title: Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency.
  6. [TRPS1 expression in salivary gland-type breast carcinoma and its clinical application].
    Title: [TRPS1 expression in salivary gland-type breast carcinoma and its clinical application].
  7. Trichorhinophalangeal syndrome type 1 (TRPS1) expression in male breast carcinoma.
    Title: Trichorhinophalangeal syndrome type 1 (TRPS1) expression in male breast carcinoma.
  8. The Influence of MDR1 Expression Regulated by miR-138 through TRPS1 Signaling Pathway on Multidrug Resistance of Osteosarcoma and Formation of Bacterial Infection Biofilm.
    Title: The Influence of MDR1 Expression Regulated by miR-138 through TRPS1 Signaling Pathway on Multidrug Resistance of Osteosarcoma and Formation of Bacterial Infection Biofilm.
  9. TRPS1 outperforms GATA3 in pleural effusions with metastatic breast carcinoma versus mesothelioma.
    Title: TRPS1 outperforms GATA3 in pleural effusions with metastatic breast carcinoma versus mesothelioma.
  10. Immunohistochemical expression of TRPS1 in mammary Paget disease, extramammary Paget disease, and their close histopathologic mimics.
    Title: Immunohistochemical expression of TRPS1 in mammary Paget disease, extramammary Paget disease, and their close histopathologic mimics.
Submit: New GeneRIF Correction See all GeneRIFs (87)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Trichorhinophalangeal dysplasia type I
MedGen: C0432233 OMIM: 190350 GeneReviews: Trichorhinophalangeal Syndrome
Compare labs
Trichorhinophalangeal syndrome, type III
MedGen: C1860823 OMIM: 190351 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-07-08)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-08)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
EBI GWAS Catalog
A mega-analysis of genome-wide association studies for major depressive disorder.
EBI GWAS Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.
EBI GWAS Catalog
Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
EBI GWAS Catalog
Genome-wide association study of periodontal pathogen colonization.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with trichorhinophalangeal syndrome I (TRPS1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC134928

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in skeletal system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
zinc finger transcription factor Trps1
Names
tricho-rhino-phalangeal syndrome type I protein
trichorhinophalangeal syndrome I
zinc finger protein GC79

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012383.3 RefSeqGene

    Range
    5027..265506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282902.3 → NP_001269831.1  zinc finger transcription factor Trps1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' structure which results in the use of an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AF178030, AF183810, AK304046, DC339831, KC877306, KF454923
    Consensus CDS
    CCDS64957.1
    UniProtKB/TrEMBL
    E5RFF3
    Related
    ENSP00000428680.1, ENST00000520276.5
    Conserved Domains (2) summary
    smart00401
    Location:895 → 938
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:899 → 955
    ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

  2. NM_001282903.3 → NP_001269832.1  zinc finger transcription factor Trps1 isoform 3

    See identical proteins and their annotated locations for NP_001269832.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice in the coding region which results in the use of an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AF178030, BC125020, KC877306, KF454923
    UniProtKB/TrEMBL
    E5RFF3
    Conserved Domains (2) summary
    smart00401
    Location:897 → 940
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:901 → 957
    ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

  3. NM_001330599.2 → NP_001317528.1  zinc finger transcription factor Trps1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AF178030, AF183810, AF264784, KC877306, KF454923
    Consensus CDS
    CCDS83316.1
    UniProtKB/Swiss-Prot
    B4E1Z5, Q08AU2, Q9NWE1, Q9UHF7, Q9UHH6
    UniProtKB/TrEMBL
    E5RFF3
    Related
    ENSP00000220888.5, ENST00000220888.9

  4. NM_014112.5 → NP_054831.2  zinc finger transcription factor Trps1 isoform 1

    See identical proteins and their annotated locations for NP_054831.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF178030, AF183810, KC877306, KF454923
    Consensus CDS
    CCDS6318.2
    UniProtKB/Swiss-Prot
    Q9UHF7
    Related
    ENSP00000379065.3, ENST00000395715.8
    Conserved Domains (2) summary
    smart00401
    Location:904 → 947
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:908 → 964
    ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    115408496..115668975 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    116535995..116796128 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UHF7.2 GenPept UniProtKB/Swiss-Prot:Q9UHF7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous