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Cirh1a
Gene Detail
Symbol

Name
ID
Cirh1a
cirrhosis, autosomal recessive 1A (human)
MGI:1096573
Synonyms
TEG-292, Tex292
Feature Type
protein coding gene
Genetic Map
Chromosome 8
53.32 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr8:106893640-106923093 bp, + strand
From Ensembl annotation of GRCm38

  29454 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:40775  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CIRH1A
Gene Tree: Cirh1a

Human
homologs
CIRH1A, cirrhosis, autosomal recessive 1A (cirhin)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 84916
neXtProt AC: NX_Q969X6

Human Synonyms: CIRHIN, NAIC, TEX292, UTP4

Human Chr (Location): 16q22.1; chr16:69132596-69169034 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CIRH1A

Mutations,
alleles, and
phenotypes
All mutations/alleles(29) : Gene trapped(27) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Cirh1a interacts with 40 markers (Mir7-1, Mir27a, Mir30b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (11 annotations)
Process maturation of SSU-rRNA, regulation of transcription, DNA-templated, ...
Component nucleolus, nucleus, ...
Function poly(A) RNA binding
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (39)    Tissues (7)    Images (18)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 39
cDNA source data(87)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cirh1a    NEW 
Molecular
reagents
All nucleic(87) cDNA(87)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000041438 (Evidence)
Entrez Gene 21771 (Evidence)
UniGene 10665
DFCI TC1574425
DoTS DT.492321, DT.101399305
NIA Mouse Gene Index U009781
Consensus CDS Project CCDS52664.1
International Mouse Phenotyping Consortium Status Cirh1a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000041438 Ensembl Gene Model | MGI Sequence Detail 29454 C57BL/6J ±  kb
transcript ENSMUST00000047629 Ensembl | MGI Sequence Detail 2248 Not Applicable 
polypeptide ENSMUSP00000048377 Ensembl | MGI Sequence Detail 686 Not Applicable 

For the selected sequences
All sequences(41) RefSeq(4) UniProt(2)
Polymorphisms
SNPs within 2kb(86 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001680 WD40 repeat
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000005500 cirhin
References
(Earliest) J:35463 Lopez-Fernandez LA, et al., Characterization of genes expressed early in mouse spermatogenesis, isolated from a subtractive cDNA library. Mamm Genome. 1996 Sep;7(9):698-700
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(34)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory