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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CIR1 Gene

protein-coding GIFtS: 55
GCID: GC02M175212

corepressor interacting with RBPJ, 1

Explore 3 diseases affiliated with
CIR1 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
Corepressor Interacting With RBPJ, 1¹ ²		Corepressor Interacting With RBPJ 1²
CIR¹ ² ³		Recepin³
CBF1-Interacting Corepressor² ³		Recepin³
CBF1 Interacting Corepressor²

External Ids:	HGNC: 24217¹	Entrez Gene: 9541²	Ensembl: ENSG00000138433⁷	OMIM: 605228⁵	UniProtKB: Q86X95³

Export aliases for CIR1 gene to outside databases

Previous GC identifers: GC02M174922 GC02M167093

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

UniProtKB/Swiss-Prot: CIR1_HUMAN, Q86X95

Function: May modulate splice site selection during alternative splicing of pre-mRNAs (By similarity). Regulates

transcription and acts as corepressor for RBPJ. Recruits RBPJ to the Sin3-histone deacetylase complex (HDAC). Required

for RBPJ-mediated repression of transcription

Gene Wiki entry for CIR1 (CIR)

(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_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for CIR1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CIR1 promoter sequence

Search SABiosciences Chromatin IP Primers for CIR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CIR1

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

Entrez Gene cytogenetic band: 2q31.1 Ensembl cytogenetic band: 2q31.1 HGNC cytogenetic band: 2q31.1

CIR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CIR1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M175212: view genomic region (about GC identifiers)

Start:	175,212,749 bp from pter	End:	175,260,443 bp from pter
Size:	47,695 bases	Orientation:	minus strand

(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: CIR1_HUMAN, Q86X95 (See protein sequence)

Recommended Name: Corepressor interacting with RBPJ 1

Size: 450 amino acids; 52313 Da

Subunit: Interacts with RP9, SNW1, SFRS1, SFRS2,U2AF1, RBPJ, SAP30, HDAC2 NKAP and NEK6. Interacts with Epstein-Barr

virus RPMS1. Component of the histone deacetylase complex. Component of the Notch corepressor complex

Subcellular location: Nucleus speckle. Cytoplasm, cytoskeleton, centrosome. Note=Co-localizes with NEK6 in the

centrosome

Sequence caution: Sequence=AAA17853.1; Type=Frameshift; Positions=135, 151, 177, 203, 261, 299, 391, 410;

Sequence=AAH21175.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

Sequence=AAH38987.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

Secondary accessions: A6NFI6 A8K8M4 O95367 Q12804 Q4G1B9 Q6PJI4 Q8IWI2

Alternative splicing: 2 isoforms: Q86X95-1 Q86X95-2 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for CIR1: NX_Q86X95

Post-translational modifications:

Phosphorylated by NEK6¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q86X95

CIR1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004873.3

ENSEMBL proteins:

ENSP00000395036 ENSP00000339723 ENSP00000355034 ENSP00000405693 ENSP00000367211

Human Recombinant Protein Products for CIR1:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for CIR1
	GenScript Custom Purified and Recombinant Proteins Services for CIR1
	Novus Biologicals CIR1 Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CIR1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000118	colocalizes with histone deacetylase complex	IDA	9874765
GO:0005634	nucleus	IDA	9874765
GO:0005737	cytoplasm	IEA	--
GO:0005815	microtubule organizing center	IEA	--
GO:0016607	nuclear speck	IEA	--

CIR1 for ontologies About GeneDecksing

CIR1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	GenScript Custom Superior Antibodies Services for CIR1
	Novus Biologicals CIR1 Antibodies
	Abcam antibodies for CIR1
	Uscn Antibodies for CIR1
	ThermoFisher Antibodies for CIR1

Assay Products for CIR1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CIR1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CIR1

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

CIR1 for domains About GeneDecksing

1 InterPro domain/family:

IPR019339 CIR_N_dom

Graphical View of Domain Structure for InterPro Entry Q86X95

ProtoNet protein and cluster: Q86X95

(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: CIR1_HUMAN, Q86X95

Function: May modulate splice site selection during alternative splicing of pre-mRNAs (By similarity). Regulates

transcription and acts as corepressor for RBPJ. Recruits RBPJ to the Sin3-histone deacetylase complex (HDAC). Required

for RBPJ-mediated repression of transcription

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	sequence-specific DNA binding transcription factor activity	TAS	9874765
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	TAS	18663143
GO:0003714	transcription corepressor activity	TAS	9874765
GO:0005515	protein binding	IPI	15652350

CIR1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CIR1:

Synthetic lethal with Ras

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CIR1

miRNA Products:		OriGene 3'-UTR Clone: CIR1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CIR1
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate CIR1:
		hsa-miR-138-1* hsa-miR-589*
		SwitchGear 3'UTR luciferase reporter plasmid: CIR1 3' UTR sequence

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 CIR1 (see all 6) OriGene siRNA: CIR1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CIR1
		Sirion Biotech Custom design and validation of potent shRNA sequences against CIR1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CIR1
			Sirion Biotech Customized adenovirus for overexpression of CIR1 Sirion Biotech Customized adenovirus for potent knockdown of CIR1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CIR1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CIR1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CIR1 (NM_004882)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CIR1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CIR1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CIR1
		Search LifeMap BioReagents cell lines for CIR1
		Sirion Biotech Customized stable knockdown cell line services for CIR1 Sirion Biotech Customized inducible knockdown cell line services for CIR1 Sirion Biotech Customized stable overexpressing cell line services for CIR1 Sirion Biotech Customized inducible overexpressing cell line services for CIR1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIR1

(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

Development_Notch Signaling Pathway

Development_Notch Signaling Pathway

1.00

Development Notch Signaling Pathway

0.97

Development NOTCH1-mediated pathway for NF-KB activity modulation

Development NOTCH1-mediated pathway for NF-KB activity modulation

1.00

Development_NOTCH1-mediated pathway for NF-KB activity modulation

0.88

Notch Signaling Pathway

Notch signaling pathway

0.82

Delta-Notch Signaling Pathway

0.27

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for CIR1

	Development Notch Signaling Pathway
	Development NOTCH1-mediated pathway for NF-KB activity modulation

2 GeneGo (Thomson Reuters) Pathways for CIR1

	Development NOTCH1-mediated pathway for NF-KB activity modulation
	Development Notch Signaling Pathway

1 BioSystems Pathway for CIR1

Delta-Notch Signaling Pathway

1 Kegg Pathway (Kegg details for CIR1):

Notch signaling pathway

CIR1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CIR1

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/21 Interacting proteins for CIR1 (Q86X95^{1, 2, 3} ENSP00000339723⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SRSF2	Q01130¹^,³, ENSP00000350877⁴	EBI-627102,EBI-627047 I2D: score=3 STRING: ENSP00000350877
SRSF1	Q07955¹^,³, ENSP00000258962⁴	EBI-627102,EBI-398920 I2D: score=2 STRING: ENSP00000258962
U2AF1	Q01081¹^,³, ENSP00000291552⁴	EBI-627102,EBI-1053464 I2D: score=2 STRING: ENSP00000291552
RBPJ	Q06330³, ENSP00000345206⁴	I2D: score=4 STRING: ENSP00000345206
SAP30	O75446³, ENSP00000296504⁴	I2D: score=4 STRING: ENSP00000296504

About this table

Gene Ontology (GO): 5 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	--	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006397	mRNA processing	IEA	--
GO:0008380	RNA splicing	IEA	--
GO:0045892	negative regulation of transcription, DNA-dependent	IDA	9874765

CIR1 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 CIR1
Search CenterWatch for drugs/clinical trials and news about CIR1

(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 CIR1 gene (2 alternative transcripts):

NM_199075.1 NM_004882.3

Unigene Cluster for CIR1:

Corepressor interacting with RBPJ, 1

Hs.632531 [show with all ESTs]

Unigene Representative Sequence: NM_004882

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

ENST00000414336 ENST00000342016(uc002uim.3 uc002uin.3) ENST00000362053

ENST00000425101 ENST00000464393 ENST00000377973 ENST00000461454 ENST00000472169

miRNA Products:		OriGene 3'-UTR Clone: CIR1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CIR1
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate CIR1:
		hsa-miR-138-1* hsa-miR-589*
		SwitchGear 3'UTR luciferase reporter plasmid: CIR1 3' UTR sequence

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 CIR1 (see all 6) OriGene siRNA: CIR1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CIR1
		Sirion Biotech Custom design and validation of potent shRNA sequences against CIR1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CIR1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CIR1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CIR1 (NM_004882)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CIR1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CIR1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CIR1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat CIR1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CIR1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CIR1

Additional cDNA sequence:

AF098297.1 AK292389.1 BC021175.1 BC031018.1 BC038987.1 BC046098.2 U03644.1

10 DOTS entries:

DT.453273 DT.75137806 DT.65288434 DT.120970670 DT.95169366 DT.100806759 DT.120970634 DT.91733404

DT.91733402 DT.95097886

24/178 AceView cDNA sequences (see all 178):

CA426263 CB528586 AA199649 CA437939 CF143339 BU618011 CA771553 BF110810

AI358035 CD677409 BF476108 AW590080 CD366894 CR599038 BQ021544 CA771245

AI307302 CF528529 BP340084 CD365426 N71888 AI379132 CR601497 BU159244

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for CIR1 About this scheme

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

ECgene alternative splicing isoforms for CIR1

(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

CIR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCAACACAGA

About this image
See CIR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CIR1

SOURCE GeneReport for Unigene cluster: Hs.632531

UniProtKB/Swiss-Prot: CIR1_HUMAN, Q86X95

Tissue specificity: Highly expressed in heart, brain, placenta, liver, skeletal muscle and pancreas

SABiosciences Custom PCR Arrays for CIR1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CIR1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat CIR1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CIR1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CIR1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIR1

(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 CIR1 gene from 9/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cir1^{1 , 5}	corepressor interacting with RBPJ, 1^{1, 5}	82.56(n)¹ 81.86(a)¹		2 (43.54 cM)⁵ 66935¹ NM_025854.3¹ NP_080130.2¹ 73283105⁵
chicken (Gallus gallus)	Aves	CIR1¹	corepressor interacting with RBPJ, 1	77.3(n) 75.11(a)		426529 NM_001031386.1 NP_001026557.1
lizard (Anolis carolinensis)	Reptilia	CIR1⁶	--	69(a)	1 ↔ 1	GL343377.1(976759-1021267)
African clawed frog (Xenopus laevis)	Amphibia	Xl.22070²	Xenopus laevis transcribed sequence with moderate similarity more	85.75(n)		BX852242.1
zebrafish (Danio rerio)	Actinopterygii	si:ch73-167c12.2¹	si:ch73-167c12.2	75.68(n) 84.28(a)		553421 XM_683925.5 XP_689017.5
fruit fly (Drosophila melanogaster)	Insecta	CG6843¹	CG6843	52(n) 45.81(a)		40062 NM_140815.2 NP_649072.1
worm (Caenorhabditis elegans)	Secernentea	cir-1¹	Protein CIR-1	49.39(n) 43.49(a)		172225 NM_059253.3 NP_491654.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G19190¹	uncharacterized zinc finger CCHC domain-containing more	44.7(n) 32.05(a)		827658 NM_118039.4 NP_193654.2
rice (Oryza sativa)	Liliopsida	--	zinc knuckle family protein, putative, expressed	17(a)	1 ↔ 1	6(29988932-29993453)

ENSEMBL Gene Tree for CIR1 (if available)
TreeFam Gene Tree for CIR1 (if available)

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

Paralogs for CIR1 gene

FAM133B² FAM133A²

8 SIMAP similar genes for CIR1 using alignment to 3 protein entries: CIR1_HUMAN (see all proteins):

A4GALT CIR HSPA9 C8orf17 METTL2B ATP8B3

C8orf44 STARD10

CIR1 for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for CIR1
PGOHUM00000242635 PGOHUM00000245663 PGOHUM00000235431

(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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4432417^1,2	C	--	175212388(+)	`CCATGC/GTGGAG`	1	--	int¹		2		NA	4
rs114225339^1,2	F	--	175212486(+)	`ACACTG/CCATGC`	1	--	int¹		1		WA	118
rs184575492^1,2		--	175212498(+)	`ACCATA/GCCCAG`	1	--	int¹		0	--	--	--	--
rs113017920^1,2	C	--	175212533(+)	`CACGGG/AGTTTC`	1	--	int¹		1		WA	2
rs113996877^1,2	F	--	175212562(+)	`GTCTCG/AAAACT`	1	--	int¹		1		NA	120
rs149097478^1,2	C	--	175212744(+)	`CTAAA-/GGGGGC`	1	--	int¹		0	--	--	--	--
rs190240805^1,2		--	175212776(+)	`TAATCC/TTTAAT`	1	--	int¹		0	--	--	--	--
rs73975113^1,2	C,F	--	175212863(+)	`AAAAAA/TGTAAA`	1	--	int¹		3		WA CSA	122
rs181507623^1,2		--	175212937(+)	`AGTTAC/TATGCG`	1	--	ut3¹		0	--	--	--	--
rs145322579^1,2		--	175212942(+)	`TATGCA/GGTTTT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CIR1 (175212749 - 175260443 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CIR1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CIR1

DNA2.0 Custom Variant and Variant Library Synthesis for CIR1

(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.)
About This Section

CIR1 for disorders           About GeneDecksing

OMIM gene information: 605228    OMIM disorders: --

3 diseases for CIR1:    About MalaCards

cryptococcosis meningoencephalitis meningitis

Export disorders for CIR1 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)
About This Section

PubMed articles for CIR1 gene, integrated from 9 sources (see all 20):
(articles sorted by number of sources associating them with CIR1)

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Epstein-Barr virus BamHi-a rightward transcript-encoded RPMS protein interacts with the CBF1-associated corepressor CIR to negatively regulate the activity of EBNA2 and NotchIC. (PubMed id 11222720)^{1, 2, 3} Zhang J.... Hayward S.D. (2001)
CIR, a corepressor linking the DNA binding factor CBF1 to the histone deacetylase complex. (PubMed id 9874765)^{1, 2, 3} Hsieh J.J.-D.... Hayward S.D. (1999)
NKAP is a transcriptional repressor of notch signalin g and is required for T cell development. (PubMed id 19409814)^{1, 2} Pajerowski A.G....Shapiro V.S. (2009)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing. (PubMed id 15652350)^{1, 3} Maita H....Iguchi-Ariga S.M. (2005)
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)
A role for SKIP in EBNA2 activation of CBF1-repressed promoters. (PubMed id 10644367)^{1, 2} Zhou S....Hayward S.D. (2000)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Characterization of hNek6 interactome reveals an impo rtant role for its short N-terminal domain and colocalization with proteins at the centrosome. (PubMed id 20873783)² Vaz Meirelles G....Kobarg J. (2010)

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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: 9541	HGNC: 24217	AceView: CIR	Ensembl:ENSG00000138433	euGenes: HUgn9541
ECgene: CIR1	Kegg: 9541	H-InvDB: CIR1

(According to HUGE)
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(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 CIR1	Pharmacogenomics, SNPs, Pathways

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corepressor interacting with RBPJ, 1

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corepressor interacting with RBPJ, 1

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