Tissue expression of TRPS1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	TRPS1
Gene description	Trichorhinophalangeal syndrome I
Protein class	Disease related genes Predicted intracellular proteins Transcription factors
Predicted localization	Intracellular
Number of transcripts	11
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (breast)
GTEx:	Tissue enhanced (breast)
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (breast)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (breast)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	TRPS1 (HGNC Symbol)
Synonyms	GC79, LGCR
Description	Trichorhinophalangeal syndrome I (HGNC Symbol)
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]
Chromosome	8
Cytoband	q23.3
Chromosome location (bp)	115408496 - 115809673
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000104447 (version 83.38)
Entrez gene	7227
UniProt	Q9UHF7 (UniProt - Evidence at protein level)
neXtProt	NX_Q9UHF7
Antibodypedia	TRPS1 antibodies

PROTEIN BROWSER

TRPS1-001	TRPS1-002	TRPS1-003	TRPS1-004	TRPS1-005	TRPS1-006	TRPS1-007	TRPS1-008	TRPS1-009	TRPS1-010	TRPS1-011

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
TRPS1-001 ENSP00000379065 ENST00000395715	Q9UHF7 [Direct mapping] Zinc finger transcription factor Trps1 Show all	Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding] GO:0001085 [RNA polymerase II transcription factor binding] GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0001501 [skeletal system development] GO:0002062 [chondrocyte differentiation] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] 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:0007507 [heart development] GO:0008270 [zinc ion binding] GO:0009887 [organ morphogenesis] GO:0009888 [tissue development] GO:0032330 [regulation of chondrocyte differentiation] GO:0043565 [sequence-specific DNA binding] GO:0045165 [cell fate commitment] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046872 [metal ion binding] GO:0048468 [cell development] GO:0048565 [digestive tract development] GO:0048646 [anatomical structure formation involved in morphogenesis] GO:1902043 [positive regulation of extrinsic apoptotic signaling pathway via death domain receptors] Show all	1294 aa 143 kDa	No	0
TRPS1-002 ENSP00000220888 ENST00000220888	Q9UHF7 [Direct mapping] Zinc finger transcription factor Trps1 Show all	Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding] GO:0001085 [RNA polymerase II transcription factor binding] GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0001501 [skeletal system development] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006607 [NLS-bearing protein import into nucleus] GO:0007507 [heart development] GO:0008270 [zinc ion binding] GO:0009887 [organ morphogenesis] GO:0009888 [tissue development] GO:0032330 [regulation of chondrocyte differentiation] GO:0043565 [sequence-specific DNA binding] GO:0045165 [cell fate commitment] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046872 [metal ion binding] GO:0048468 [cell development] GO:0048565 [digestive tract development] GO:0048646 [anatomical structure formation involved in morphogenesis] Show all	1281 aa 141.5 kDa	No	0
TRPS1-003 ENSP00000400360 ENST00000451156		Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		9 aa 1 kDa	No	0
TRPS1-004 ENSP00000405028 ENST00000422939	C9J6L7 [Direct mapping] Zinc finger transcription factor Trps1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		61 aa 6.8 kDa	No	0
TRPS1-005 ENSP00000379063 ENST00000395713	F8W8T0 [Direct mapping] Zinc finger transcription factor Trps1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		117 aa 12.9 kDa	No	0
TRPS1-006 ENSP00000428680 ENST00000520276	Q9UHF7 [Direct mapping] Zinc finger transcription factor Trps1 Show all	Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding] GO:0001085 [RNA polymerase II transcription factor binding] GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0001501 [skeletal system development] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006607 [NLS-bearing protein import into nucleus] GO:0007507 [heart development] GO:0008270 [zinc ion binding] GO:0009887 [organ morphogenesis] GO:0009888 [tissue development] GO:0032330 [regulation of chondrocyte differentiation] GO:0043565 [sequence-specific DNA binding] GO:0045165 [cell fate commitment] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046872 [metal ion binding] GO:0048468 [cell development] GO:0048565 [digestive tract development] GO:0048646 [anatomical structure formation involved in morphogenesis] Show all	1285 aa 142 kDa	No	0
TRPS1-007 ENSP00000429174 ENST00000519674	E5RJ97 [Direct mapping] Zinc finger transcription factor Trps1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005654 [nucleoplasm] GO:0046872 [metal ion binding] Show all	902 aa 99.2 kDa	No	0
TRPS1-008 ENSP00000430803 ENST00000517323	H0YC29 [Direct mapping] Zinc finger transcription factor Trps1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005654 [nucleoplasm] GO:0046872 [metal ion binding] Show all	691 aa 75.8 kDa	No	0
TRPS1-009 ENSP00000428910 ENST00000519076	E5RFF3 [Direct mapping] Zinc finger transcription factor Trps1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005654 [nucleoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0043565 [sequence-specific DNA binding] GO:0046872 [metal ion binding] Show all	1035 aa 114.5 kDa	No	0
TRPS1-010 ENSP00000430383 ENST00000519815	E7EVN4 [Direct mapping] Zinc finger transcription factor Trps1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		108 aa 11.8 kDa	No	0
TRPS1-011 ENSP00000428121 ENST00000518018	H0YAV4 [Direct mapping] Zinc finger transcription factor Trps1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0043565 [sequence-specific DNA binding] Show all	271 aa 30.5 kDa	No	0