Anti-TRPS1 Antibody (CAB7743)

Antibody Name:	Anti-TRPS1 Antibody
Antibody SKU:	CAB7743
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IF
Reactivity:	Human, Mouse
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 20-260 of human TRPS1 (NP_054831.2).

Application:	WB IF
Recommended Dilution:	WB 1:500 - 1:2000 IF 1:50 - 1:100
Reactivity:	Human, Mouse
Positive Samples:	Mouse kidney, Mouse spleen

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 20-260 of human TRPS1 (NP_054831.2).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	PPLR NVAS EGEG QILE PIGT ESKV SGKN KEFS ADQM SENT DQSD AAEL NHKE EHSL HVQD PSSS SKKD LKSA VLSE KAGF NYES PSKG GNFP SFPH DEVT DRNM LAFS SPAA GGVC EPLK SPQR AEAD DPQD MACT PSGD SLET KEDQ KMSP KATE ETGQ AQSG QANC QGLS PVSV ASKN PQVP SDGG VRLN KSKT DLLV NDNP DPAP LSPE LQDF KCNI CGYG YYGN DPTD LIKH FRKY H
Gene ID:	7227
Uniprot:	Q9UHF7
Cellular Location:	Nucleus
Calculated MW:	141kDa/143kDa
Observed MW:	130kDa

Synonyms:	TRPS1, GC79, LGCR
Background:	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.

UniProt Protein Function:	TRPS1: Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes. Defects in TRPS1 are the cause of tricho-rhino-phalangeal syndrome type 1 (TRPS1). TRPS1 is an autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature. Defects in TRPS1 are a cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2). A syndrome that combines the clinical features of trichorhinophalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. Defects in TRPS1 are the cause of tricho-rhino-phalangeal syndrome type 3 (TRPS3). TRPS3 is an autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In TRPS3 a more severe brachydactyly and growth retardation are observed. 3 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:Transcription factor; C2H2-type zinc finger protein Chromosomal Location of Human Ortholog: 8q24.12 Cellular Component: nucleoplasm; nucleus Molecular Function:protein binding; zinc ion binding; sequence-specific DNA binding; transcription factor activity Biological Process: transcription from RNA polymerase II promoter; regulation of histone deacetylation; transmembrane receptor protein serine/threonine kinase signaling pathway; chondrocyte differentiation; NLS-bearing substrate import into nucleus; negative regulation of transcription from RNA polymerase II promoter; regulation of chondrocyte differentiation; skeletal development Disease: Trichorhinophalangeal Syndrome, Type I; Trichorhinophalangeal Syndrome, Type Iii
NCBI 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]
UniProt Code:	Q9UHF7
NCBI GenInfo Identifier:	544710995
NCBI Gene ID:	7227
NCBI Accession:	NP_001269831.1
UniProt Secondary Accession:	Q9UHF7,Q08AU2, Q9NWE1, Q9UHH6, B4E1Z5,
UniProt Related Accession:	Q9UHF7
Molecular Weight:
NCBI Full Name:	zinc finger transcription factor Trps1 isoform 2
NCBI Synonym Full Names:	trichorhinophalangeal syndrome I
NCBI Official Symbol:	TRPS1
NCBI Official Synonym Symbols:	GC79; LGCR
NCBI Protein Information:	zinc finger transcription factor Trps1
UniProt Protein Name:	Zinc finger transcription factor Trps1
UniProt Synonym Protein Names:	Tricho-rhino-phalangeal syndrome type I protein; Zinc finger protein GC79
Protein Family:	Tryptophan--tRNA ligase
UniProt Gene Name:	TRPS1
UniProt Entry Name:	TRPS1_HUMAN

	Western blot analysis of extracts of various cell lines, using TRPS1 antibody (CAB7743) at 1:1000 dilution._Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution._Lysates/proteins: 25ug per lane._Blocking buffer: 3% nonfat dry milk in TBST._Detection: ECL Enhanced Kit (RM00021)._Exposure time: 90s.
	Immunofluorescence analysis of A549 cells using TRPS1 antibody (CAB7743).

Antibodies

TRPS1 Antibody (PACO05254)

TRPS1 Antibody (PACO12942)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)