Trps1
Gene Detail

Symbol Name ID

Trps1 trichorhinophalangeal syndrome I (human) MGI:1927616

Synonyms

D15Ertd586e

Feature Type

protein coding gene

Genetic Map

Chromosome 15

19.18 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)

Sequence Map

Chr15:50654761-50890041 bp, - strand From Ensembl annotation of GRCm38   235281 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:8556  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Trps1

Human homologs

Human Homolog		TRPS1, trichorhinophalangeal syndrome I
NCBI Gene ID		7227
neXtProt AC		NX_Q9UHF7
Human Synonyms		GC79, LGCR
Human Chr (Location)		8q24.12; chr8:116420724-116681228 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human TRPS1

Alleles and phenotypes

All alleles(20) : Targeted(3) Gene trapped(17)
 

Newborn mice homozygous for a knock-out allele exhibit craniofacial and hair anomalies and die of respiratory failure due to thoracic spine and rib defects. Mice homozygous for a reporter allele show additional defects in chondrocyte proliferation and apoptosis as well as reduced nephron formation.

 
Human Diseases Modeled Using Mouse Trps1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (16 annotations)

Process	negative regulation of transcription, DNA-dependent, negative regulation of transcription from RNA polymerase II promoter, ...
Component	nucleus
Function	DNA binding, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (21 records)
Data Summary: Results (697)    Tissues (262)    Images (92)
Theiler Stages: 2, 3, 4, 5, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 28

Assay Type	Results
Immunohistochemistry	12
RNA in situ	653
Northern blot	9
RT-PCR	23

cDNA source data(17)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(23) cDNA(19) Primer pair(4)
Microarray probesets(7)

Other database links

Ensembl Gene Model	ENSMUSG00000038679 (Evidence)
Entrez Gene	83925 (Evidence)
DFCI	TC1582722, TC1589305, TC1596416, TC1606953, TC1615859, TC1631107, TC1677915
DoTS	DT.101134150, DT.101354448, DT.101367575, DT.40166534, DT.486897, DT.527605, DT.99850349
NIA Mouse Gene Index	U083059, U093481
Consensus CDS Project	CCDS27460.1
International Mouse Knockout Project Status	Trps1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000038679	Ensembl Gene Model | MGI Sequence Detail	235281	C57BL/6J
transcript	ENSMUST00000165201	Ensembl | MGI Sequence Detail	10200	Not Applicable
polypeptide	ENSMUSP00000129779	Ensembl | MGI Sequence Detail	1281	Not Applicable

All sequences(50) RefSeq(2) UniProt(8)

Polymorphisms

RFLP(1) : SNPs(1640 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR007087	Zinc finger, C2H2
InterPro	IPR015880	Zinc finger, C2H2-like
InterPro	IPR000679	Zinc finger, GATA-type
InterPro	IPR013088	Zinc finger, NHR/GATA-type
Protein Ontology	PR:000016704	zinc finger transcription factor Trps1

References

(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:194118 Fantauzzo KA, et al., Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. PLoS Genet. 2012;8(11):e1003002
All references(61)

Other accession IDs

MGI:1261920, MGI:2145946, MGI:2146008