Expression of CIRH1A in cancer - Summary - The Human Protein Atlas

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CIRH1A

TISSUE

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CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
Gene name	CIRH1A
Gene description	Cirrhosis, autosomal recessive 1A (cirhin)
Protein class	Disease related genes Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	10
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Expressed in all

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Nucleolar expression in several tissues, mainly in neuronal cells.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data. Pending external verification.
Reliability score	Approved based on 1 antibody. HPA041139
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PROGNOSTIC SUMMARY
Prognostic marker in liver cancer (unfavourable), ovarian cancer (favourable) and head and neck cancer (unfavourable).
Liver cancer p<0.001 Ovarian cancer p<0.001 Head and neck cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA041139

GENE INFORMATION
Gene name	CIRH1A (HGNC Symbol)
Synonyms	CIRHIN, FLJ14728, KIAA1988, NAIC, TEX292, UTP4
Description	Cirrhosis, autosomal recessive 1A (cirhin) (HGNC Symbol)
Entrez gene 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]
Chromosome	16
Cytoband	q22.1
Chromosome location (bp)	69131291 - 69231130
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000141076 (version 83.38)
Entrez gene	84916
UniProt	Q969X6 (UniProt - Evidence at protein level)
neXtProt	NX_Q969X6
Antibodypedia	CIRH1A antibodies

PROTEIN BROWSER

CIRH1A-001	CIRH1A-002	CIRH1A-003	CIRH1A-004	CIRH1A-006	CIRH1A-007	CIRH1A-008	CIRH1A-009	CIRH1A-010	CIRH1A-016

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CIRH1A-001 ENSP00000327179 ENST00000314423	Q969X6 [Direct mapping] Cirhin Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005730 [nucleolus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0030490 [maturation of SSU-rRNA] GO:0034455 [t-UTP complex] GO:0044822 [poly(A) RNA binding] Show all	686 aa 76.9 kDa	No	0
CIRH1A-002 ENSP00000456622 ENST00000563094	Q969X6 [Direct mapping] Cirhin Show all	Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005730 [nucleolus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0030490 [maturation of SSU-rRNA] GO:0034455 [t-UTP complex] GO:0044822 [poly(A) RNA binding] Show all	625 aa 69.6 kDa	No	0
CIRH1A-003 ENSP00000339164 ENST00000352319	Q969X6 [Direct mapping] Cirhin Show all	Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005730 [nucleolus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0030490 [maturation of SSU-rRNA] GO:0034455 [t-UTP complex] GO:0044822 [poly(A) RNA binding] Show all	571 aa 64.1 kDa	No	0
CIRH1A-004 ENSP00000456709 ENST00000562237	H3BSH7 [Direct mapping] Cirhin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	700 aa 77.9 kDa	No	0
CIRH1A-006 ENSP00000461517 ENST00000563299	I3L4T9 [Direct mapping] Cirhin Show all	THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	182 aa 20.1 kDa	Yes	0
CIRH1A-007 ENSP00000455269 ENST00000567235	H3BPD7 [Direct mapping] Cirhin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	148 aa 16.8 kDa	No	0
CIRH1A-008 ENSP00000462451 ENST00000568448	J3KSE6 [Direct mapping] Cirhin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	79 aa 8.8 kDa	No	0
CIRH1A-009 ENSP00000463109 ENST00000567460	J3KTR0 [Direct mapping] Cirhin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	143 aa 15.7 kDa	No	0
CIRH1A-010 ENSP00000462497 ENST00000566227	J3KSI1 [Direct mapping] Cirhin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	198 aa 21.6 kDa	No	0
CIRH1A-016 ENSP00000456317 ENST00000567500	H3BRM8 [Direct mapping] Cirhin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	211 aa 23.2 kDa	No	0

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The Human Protein Atlas

The Human Protein Atlas project is funded
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