InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: TRPS1

Summary

InnateDB Gene

IDBG-33299.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TRPS1

Gene Name

trichorhinophalangeal syndrome I

Synonyms

GC79; LGCR

Species

Homo sapiens

Ensembl Gene

ENSG00000104447

Encoded Proteins

IDBP-33301

trichorhinophalangeal syndrome I

IDBP-238987

trichorhinophalangeal syndrome I

IDBP-238989

trichorhinophalangeal syndrome I

IDBP-375417

trichorhinophalangeal syndrome I

IDBP-375420

trichorhinophalangeal syndrome I

IDBP-483419

trichorhinophalangeal syndrome I

IDBP-474070

trichorhinophalangeal syndrome I

IDBP-484029

trichorhinophalangeal syndrome I

IDBP-477259

trichorhinophalangeal syndrome I

IDBP-479698

trichorhinophalangeal syndrome I

IDBP-479578

trichorhinophalangeal syndrome I

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 8:115408496-115809673

Strand

Reverse strand

Band

q23.3

Transcripts

ENST00000220888	ENSP00000220888
ENST00000395715	ENSP00000379065
ENST00000395713	ENSP00000379063
ENST00000422939	ENSP00000405028
ENST00000451156	ENSP00000400360
ENST00000517323	ENSP00000430803
ENST00000519076	ENSP00000428910
ENST00000520276	ENSP00000428680
ENST00000518018	ENSP00000428121
ENST00000519674	ENSP00000429174
ENST00000519815	ENSP00000430383

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0043565	sequence-specific DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001501	skeletal system development
GO:0002062	chondrocyte differentiation
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0006607	NLS-bearing protein import into nucleus
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0031063	regulation of histone deacetylation
GO:0032330	regulation of chondrocyte differentiation
GO:0045892	negative regulation of transcription, DNA-templated
GO:1902043	positive regulation of extrinsic apoptotic signaling pathway via death domain receptors

Cellular Component

GO:0005634

nucleus

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000038679

View Gene Order

ENSBTAG00000017694

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.602945 Hs.619355 Hs.657018 Hs.690391

RefSeq

NM_001282902 NM_001282903 NM_014112 XM_005251049 XM_006716624 XM_006716625

HUGO

OMIM

CCDS

CCDS6318 CCDS64957

HPRD

05091

IMGT

EMBL

GenPept

RNA Seq Atlas