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Trps1 Gene Detail
Summary
  • Symbol
    Trps1
  • Name
    transcriptional repressor GATA binding 1
  • Synonyms
    D15Ertd586e, trichorhinophalangeal syndrome I (human)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927616
    NCBI Gene: 83925
  • Alliance
    gene page
  • Transcription Start Sites
    52 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:50518148-50753859 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 19.18 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5943 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927616
 protein coding gene Chr15:50518148-50754027 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021836
 protein coding gene Chr15:49524002-49773538 (-)
A/J MGP_AJ_G0021796
 protein coding gene Chr15:47583980-47821804 (-)
AKR/J MGP_AKRJ_G0021777
 protein coding gene Chr15:48921843-49160339 (-)
BALB/cJ MGP_BALBcJ_G0021803
 protein coding gene Chr15:47821514-48069787 (-)
C3H/HeJ MGP_C3HHeJ_G0021577
 protein coding gene Chr15:49012340-49253327 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022242
 protein coding gene Chr15:51474858-51743400 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019779
 protein coding gene Chr15:44665064-44903104 (-)
CAST/EiJ MGP_CASTEiJ_G0021094
 protein coding gene Chr15:49541266-49795043 (-)
CBA/J MGP_CBAJ_G0021546
 protein coding gene Chr15:53352375-53610715 (-)
DBA/2J MGP_DBA2J_G0021670
 protein coding gene Chr15:47447344-47687786 (-)
FVB/NJ MGP_FVBNJ_G0021648
 protein coding gene Chr15:46644893-46880837 (-)
LP/J MGP_LPJ_G0021740
 protein coding gene Chr15:49285101-49562383 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021672
 protein coding gene Chr15:58224940-58536243 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022265
 protein coding gene Chr15:49256626-49500307 (-)
PWK/PhJ MGP_PWKPhJ_G0020839
 protein coding gene Chr15:47528552-47777242 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020676
 protein coding gene Chr15:48971964-49222363 (-)
WSB/EiJ MGP_WSBEiJ_G0021149
 protein coding gene Chr15:49210504-49460650 (-)



Homology
more
  • Human Ortholog
    TRPS1, transcriptional repressor GATA binding 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TRPS1, transcriptional repressor GATA binding 1
  • Synonyms
    GC79, LGCR
  • Links
    NCBI Gene ID: 7227
    neXtProt AC: NX_Q9UHF7
    UniProt: Q9UHF7

  • Chr Location
    8q23.3; chr8:115408496-115809673 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Trps1 mouse models; 3 with human TRPS1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    77 phenotypes from 6 alleles in 7 genetic backgrounds
    37 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit absent vibrissae, craniofacial anomalies, cleft palate, thoracic spine and rib defects, and neonatal lethality due to respiratory failure. Mice homozygous for a reporter allele show additional defects in chondrocyte proliferation and apoptosis as well as reduced nephron formation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1504
  • Tissues
    296
  • cDNA Data
    125
  • Literature Summary
    35
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038679 Ensembl Gene Model | MGI Sequence Detail 235712 C57BL/6J ±  kb
    transcript ENSMUST00000183757 Ensembl | MGI Sequence Detail 6202 Not Applicable  
    polypeptide ENSMUSP00000139017 Ensembl | MGI Sequence Detail 1285 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 134
      cDNA 127
      Primer pair 7

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1261920, MGI:2145946, MGI:2146008
    References
    more
    • Summaries
      All 101
      Developmental Gene Expression 35
      Diseases 1
      Gene Ontology 9
      Phenotypes 37
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:353660 Saeki N, et al., Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice. Hum Mol Genet. 2024 Sep 3;33(18):1618-1629
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory