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Anti-CIRH1A Antibody (CAB8593)

SKU:
CAB8593
Product Type:
Antibody
Applications:
WB
Reactivity:
Human
Mouse
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Cell Biology
€139 - €419
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Description

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Antibody Name:Anti-CIRH1A Antibody
Antibody SKU:CAB8593
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 497-686 of human CIRH1A (NP_116219.2).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse
Positive Samples:U-251MG, HeLa, HT-1080, K-562, Mouse liver
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 497-686 of human CIRH1A (NP_116219.2).
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:NWLA ASGT SAGV HVYN VKQL KLHC TVPA YNFP VTAM AIAP NTNN LVIA HSDQ QVFE YSIP DKQY TDWS RTVQ KQGF HHLW LQRD TPIT HISF HPKR PMHI LLHD AYMF CIID KSLP LPND KTLL YNPF PPTN ESDV IRRR TAHA FKIS KIYK PLLF MDLL DERT LVAV ERPL DDII AQLP PPIK KKKF GT
Gene ID:84916
Uniprot:Q969X6
Cellular Location:Nucleus, nucleolus
Calculated MW:64kDa/69kDa/76kDa
Observed MW:77kDa
Synonyms:UTP4, CIRH1A, CIRHIN, NAIC, TEX292
Background:This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants.
UniProt Protein Function:CIRH1A: May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5'-GGGACTTTCC-3' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV. Defects in CIRH1A are the cause of North American Indian childhood cirrhosis (NAIC). NAIC is a severe autosomal recessive intrahepatic cholestasis, originally described in Ojibway-Cree children from northwestern Quebec. NAIC typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Biochemical and histopathological features suggest involvement of the bile ducts rather than of the bile canaliculi. They include elevated gamma glutamyltransferase and alkaline phosphatase levels, and, typically, marked fibrosis around bile ducts. Clinically, NAIC is distinct from other nonsyndromic familial cholestases because of its marked cholangiopathic features and severe degree of fibrosis on liver histology. 3 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Nucleolus; Unknown function

Chromosomal Location of Human Ortholog: 16q22.1

Cellular Component: nucleolus

Molecular Function:protein binding

Biological Process: regulation of transcription, DNA-dependent; transcription, DNA-dependent; maturation of SSU-rRNA

Disease: North American Indian Childhood Cirrhosis

NCBI Summary:This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. [provided by RefSeq, Jul 2008]
UniProt Code:Q969X6
NCBI GenInfo Identifier:41016916
NCBI Gene ID:84916
NCBI Accession:Q969X6.1
UniProt Secondary Accession:Q969X6,Q8NCD9, Q8TF14, Q96SP0, Q96SR9, Q96SZ9, Q96T13 Q9BWK6,
UniProt Related Accession:Q969X6
Molecular Weight:69,639 Da
NCBI Full Name:Cirhin
NCBI Synonym Full Names:cirrhosis, autosomal recessive 1A (cirhin)
NCBI Official Symbol:CIRH1A  
NCBI Official Synonym Symbols:NAIC; UTP4; CIRHIN; TEX292  
NCBI Protein Information:cirhin; UTP4, small subunit (SSU) processome component, homolog; testis expressed gene 292
UniProt Protein Name:Cirhin
UniProt Gene Name:CIRH1A  
UniProt Entry Name:CIR1A_HUMAN
Anti-CIRH1A Polyclonal Antibody (CAB8593)Western blot analysis of extracts of various cell lines, using CIRH1A antibody (CAB8593) 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 Basic Kit (RM00020). Exposure time: 5s.

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