Cell atlas - CIRH1A - The Human Protein Atlas

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CIRH1A

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Nucleoli fibrillar center

Human cell
	Nucleoli

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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
Summary	Localized to the nucleoli (fibrillar center).
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleoli fibrillar center (supported)

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA043542
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the nucleoli (fibrillar center).

Main location

Nucleoli fibrillar center (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA043542	SiHa	Nucleoli fibrillar center
	HPA043542	U-2 OS	Nucleoli fibrillar center

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

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.