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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CIRH1A Gene

protein-coding GIFtS: 57
GCID: GC16P069166

cirrhosis, autosomal recessive 1A (cirhin)

Explore 9 diseases affiliated with
CIRH1A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cirrhosis, Autosomal Recessive 1A (Cirhin)¹ ²		UTP4¹ ²
NAIC¹ ² ⁵		FLJ14728¹
TEX292¹ ² ⁵		Cirhin¹
KIAA1988¹ ³ ⁵		Testis Expressed Gene 292²
CIRHIN¹ ²		UTP4, Small Subunit (SSU) Processome Component, Homolog²

External Ids:	HGNC: 1983¹	Entrez Gene: 84916²	Ensembl: ENSG00000141076⁷	OMIM: 607456⁵	UniProtKB: Q969X6³

Export aliases for CIRH1A gene to outside databases

Previous GC identifers: GC16U990125 GC16P069544 GC16P068901 GC16P068942 GC16P067724 GC16P055039

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CIRH1A:

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)

UniProtKB/Swiss-Prot: CIR1A_HUMAN, Q969X6

Function: 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

Gene Wiki entry for CIRH1A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CIRH1A gene promoter:
E2F-4 E2F-3a E2F-5 Nkx2-5 E2F-2 RORalpha1 AREB6 E2F E2F-1 HOXA5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CIRH1A promoter sequence

Search SABiosciences Chromatin IP Primers for CIRH1A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CIRH1A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1 Ensembl cytogenetic band: 16q22.1 HGNC cytogenetic band: 16q22

CIRH1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CIRH1A gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P069166: view genomic region (about GC identifiers)

Start:	69,165,194 bp from pter	End:	69,202,941 bp from pter
Size:	37,748 bases	Orientation:	plus strand

1 alternative location:

Chr16-,PATCHES 69,232,289-69,258,145

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CIR1A_HUMAN, Q969X6 (See protein sequence)

Recommended Name: Cirhin

Size: 686 amino acids; 76890 Da

Subunit: Interacts with HIVEP1

Subcellular location: Nucleus, nucleolus

Sequence caution: Sequence=BAB55100.1; Type=Erroneous initiation; Sequence=BAB55116.1; Type=Erroneous initiation;

Sequence=BAB55212.1; Type=Erroneous initiation; Sequence=BAB85574.2; Type=Erroneous initiation;

Secondary accessions: Q8NCD9 Q8TF14 Q96SP0 Q96SR9 Q96SZ9 Q96T13 Q9BWK6

Alternative splicing: 3 isoforms: Q969X6-1 Q969X6-2 Q969X6-3 (May be due to intron retention)

Explore the universe of human proteins at neXtProt for CIRH1A: NX_Q969X6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q969X6

CIRH1A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_116219.2

ENSEMBL proteins:

ENSP00000461517 ENSP00000327179 ENSP00000456709 ENSP00000463109 ENSP00000462497

ENSP00000339164 ENSP00000456622 ENSP00000455269 ENSP00000462451 ENSP00000456317

Human Recombinant Protein Products for CIRH1A:

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	Novus Biologicals CIRH1A Proteins Novus Biologicals CIRH1A Lysate
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	Uscn Proteins for CIRH1A

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005730	nucleolus	IDA	16225863

CIRH1A for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CIRH1A

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CIRH1A for domains About GeneDecksing

4 InterPro domains/families:

IPR011047 Quinonprotein_ADH-like_supfam

IPR001680 WD40_repeat

IPR017986 WD40_repeat_dom

IPR015943 WD40/YVTN_repeat-like_dom

Graphical View of Domain Structure for InterPro Entry Q969X6

ProtoNet protein and cluster: Q969X6

UniProtKB/Swiss-Prot: CIR1A_HUMAN, Q969X6

Similarity: Contains 11 WD repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CIR1A_HUMAN, Q969X6

Function: 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

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0005515	protein binding	IPI	19732766

CIRH1A for ontologies About GeneDecksing

Phenotypes:
5 GenomeRNAi human phenotypes for CIRH1A:

Downregulation of NF-kappaB pa	Downregulation of NF-kappaB pa	Nuclear 40S maturation defects	Nucleolar pre-40S maturation d
Synthetic lethal with Ras

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CIRH1A

miRNA Products:		OriGene 3'-UTR Clone: CIRH1A Browse MicroRNA Expression Plasmids
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		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CIRH1A
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CIRH1A (see all 7) OriGene shRNA RFP: CIRH1A OriGene siRNA: CIRH1A
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CIRH1A
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIRH1A

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ribosome biogenesis in eukaryotes

Ribosome biogenesis in eukaryotes

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Kegg Pathway (Kegg details for CIRH1A):

Ribosome biogenesis in eukaryotes

CIRH1A for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CIRH1A

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/104 Interacting proteins for CIRH1A (Q969X6³ ENSP00000327179⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 104)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=2
HIST1H4B	P62805³	I2D: score=2
HIST1H4C	P62805³	I2D: score=2
HIST1H4D	P62805³	I2D: score=2
HIST1H4E	P62805³	I2D: score=2

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IDA	19732766
GO:0008150	biological_process	ND	--

CIRH1A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CIRH1A
Search CenterWatch for drugs/clinical trials and news about CIRH1A / CIR1A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CIRH1A gene:

NM_032830.2

Unigene Cluster for CIRH1A:

Cirrhosis, autosomal recessive 1A (cirhin)

Hs.461113 [show with all ESTs]

Unigene Representative Sequence: NM_032830

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000563299 ENST00000314423(uc002ews.4 uc002ewt.4 uc010cfi.3)

ENST00000562237 ENST00000567460 ENST00000566227 ENST00000352319(uc010cfj.1)

ENST00000563094(uc002ewr.2) ENST00000569800 ENST00000567235 ENST00000568448

ENST00000567015 ENST00000569014 ENST00000564408 ENST00000569615 ENST00000567500

miRNA Products:		OriGene 3'-UTR Clone: CIRH1A Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CIRH1A
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against CIRH1A

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CIRH1A (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CIRH1A OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CIRH1A (NM_032830)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CIRH1A

Additional cDNA sequence:

AK027419.1 AK027445.1 AK027634.1 AK027675.1 AK074795.1 BC000167.2 BC009348.2 BX647265.1

23 DOTS entries:

DT.455881 DT.100816966 DT.75169114 DT.100029204 DT.95196197 DT.100816961 DT.100816959 DT.100816967

DT.120681285 DT.91653679 DT.100029205 DT.120681024 DT.120681025 DT.102834104 DT.120681130 DT.120681282

DT.100816960 DT.120680968 DT.120681093 DT.120681208 DT.75123809 DT.95235438 DT.99983411

24/304 AceView cDNA sequences (see all 304):

BM786657 CA425062 CD742537 BM679336 AI765878 AK027584 BQ221504 Z45503

BQ061771 BX403956 AA992952 CA430712 BM831421 BC000167 BE206966 CB242045

AW886509 CA429665 AK027675 AK027634 H98739 BG036615 BU182739 AA643015

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for CIRH1A (see all 15) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	^	3a	·	3b	^	4a	·	4b	·	4c	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c	^	7	^	8a	·	8b	·	8c	·	8d	^	9a	·	9b	^	10	^	11	^
SP1:													-				-										-		-						-
SP2:																	-										-		-						-
SP3:																	-										-		-						-
SP4:																											-		-						-
SP5:													-														-		-						-

ExUns:	12	^	13	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19
SP1:													-
SP2:													-
SP3:
SP4:	-		-		-								-
SP5:

ECgene alternative splicing isoforms for CIRH1A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CIRH1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTAATAAAAC

About this image

CIRH1A expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Primary Follicle

Primary Oocyte

Female Gametocytes, Germ Cells

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CIRH1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CIRH1A

SOURCE GeneReport for Unigene cluster: Hs.461113

SABiosciences Custom PCR Arrays for CIRH1A

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CIRH1A Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIRH1A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CIRH1A gene from 9/28 species (see all 28) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cirh1a^{1 , 5}	cirrhosis, autosomal recessive 1A (human)^{1, 5}	87.9(n)¹ 89.94(a)¹		8 (53.32 cM)⁵ 21771¹ NM_011574.2¹ NP_035704.2¹ 106893640⁵
chicken (Gallus gallus)	Aves	CIRH1A¹	cirrhosis, autosomal recessive 1A (cirhin)	63.8(n) 61.22(a)		769632 XM_001232919.2 XP_001232920.2
lizard (Anolis carolinensis)	Reptilia	CIRH1A⁶	--	61(a)	1 ↔ 1	GL343914.1(86-9710)
African clawed frog (Xenopus laevis)	Amphibia	MGC52698²	similar to testis expressed gene 292	74.13(n)		BC042339.1
zebrafish (Danio rerio)	Actinopterygii	wufi09g10²	Transcribed sequence with weak similarity to protein more	75.21(n)		CD760336.1
fruit fly (Drosophila melanogaster)	Insecta	l(3)72Dn¹	lethal (3) 72Dn	41.4(n) 26.63(a)		39774 NM_140589.2 NP_648846.2
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	UTP4(YDR324C)⁴ UTP4¹	Subunit of U3-containing 90S preribosome and Small more⁴ Utp4p¹	40.5(n)¹ 27.94(a)¹		4(1116763-1114433)⁴ 851924^{1, 4} NP_010611.3¹ NP_010611.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G07410¹	transducin/WD40 domain-containing protein	41.7(n) 30.38(a)		826172 NM_116813.3 NP_567317.2
rice (Oryza sativa)	Liliopsida	Os03g0735100¹	hypothetical protein	42.83(n) 28.23(a)		4334021 NM_001057720.2 NP_001051185.2

ENSEMBL Gene Tree for CIRH1A (if available)
TreeFam Gene Tree for CIRH1A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs119465999^1,2	C	pathogenic	69199289(+)	`GGAGCC/TGGACT`	2	R W	mis¹		1		EU	1323
rs74886292^1,2	C	--	55040197(+)	`GGCTGG/TTTCAC`	2	G V	mis¹		0	--	--	--	--
rs75630898^1,2	F	--	55042773(+)	`TCAAGT/ATGAAA`	1	--	int¹		1		EA	120
rs11541983^1,2	H	--	55043394(+)	`ATGGCG/AAGATT`	2	/K /E	mis¹		4		NS EA	406
rs111889009^1,2	F	--	55044121(+)	`AAGTAG/TTCTAT`	1	--	int¹		1		CSA	4
rs112934993^1,2	F	--	55044235(+)	`ACACTA/GTTAGT`	1	--	int¹		3		CSA WA	126
rs72789241^1,2	C	--	55044290(+)	`CACGGC/GAACTG`	1	--	int¹		0	--	--	--	--
rs11864946^1,2	C,F,H	--	55044615(+)	`TGGGTA/CCAGGG`	1	--	int¹		5		NS NA WA	352
rs11861189^1,2	C,H	--	55044838(+)	`TATGGG/TTCTTT`	1	--	int¹ trp³		0	--	--	--	--
rs200844607^1,2	C	--	55044845(+)	`CTTTTC/TTTTCT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CIRH1A (69165194 - 69202941 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CIRH1A
1 CNV: 35397
Human Gene Mutation Database (HGMD): CIRH1A

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CIRH1A for disorders           About GeneDecksing

OMIM gene information: 607456
OMIM disorders: 604901
UniProtKB/Swiss-Prot: CIR1A_HUMAN, Q969X6

Defects in CIRH1A are the cause of North American Indian childhood cirrhosis (NAIC) [MIM:604901]. 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

9 diseases for CIRH1A: About MalaCards

north american indian childhood cirrhosis intrahepatic cholestasis neonatal jaundice jaundice

cholestasis fibrosis portal hypertension liver cirrhosis

hypertension

1 disease from the University of Copenhagen DISEASES database for CIRH1A:

Cholestasis

Export disorders for CIRH1A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CIRH1A gene, integrated from 9 sources (see all 27):
(articles sorted by number of sources associating them with CIRH1A)

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world of online information

Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. (PubMed id 16225863)^{1, 2, 9} Yu B....Richter A. (2005)
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. (PubMed id 12417987)^{1, 2, 9} Chagnon P.... Richter A. (2002)
Cirhin up-regulates a canonical NF-kappaB element thr ough strong interaction with Cirip/HIVEP1. (PubMed id 19732766)^{1, 2, 9} Yu B....Richter A. (2009)
The C-terminus of Utp4, mutated in childhood cirrhosi s, is essential for ribosome biogenesis. (PubMed id 20385600)^{1, 3} Freed E.F. and Baserga S.J. (2010)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Functional proteomic analysis of human nucleolus. (PubMed id 12429849)^{1, 2} Scherl A.... Diaz J.-J. (2002)
Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)^{1, 2} Nagase T.... Ohara O. (2001)
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. (PubMed id 10820129)^{1, 3} Betard C....Mitchell G.A. (2000)
The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)¹ Aichem A....Groettrup M. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 84916	HGNC: 1983	AceView: CIRH1A	Ensembl:ENSG00000141076	euGenes: HUgn84916
ECgene: CIRH1A	Kegg: 84916	H-InvDB: CIRH1A

(According to HUGE)
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HUGE: KIAA1988

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CIRH1A	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CIRH1A

Intellectual Property for CIRH1A gene
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Patent Information for CIRH1A gene:
Search GeneIP for patents involving CIRH1A

GeneCards and IP:
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cirrhosis, autosomal recessive 1A (cirhin)

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cirrhosis, autosomal recessive 1A (cirhin)

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