CIR1 corepressor interacting with RBPJ, CIR1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CIR1provided by HGNC
Official Full Name: corepressor interacting with RBPJ, CIR1provided by HGNC
Primary source: HGNC:HGNC:24217
See related: Ensembl:ENSG00000138433 MIM:605228; AllianceGenome:HGNC:24217
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CIR
Summary: Enables histone deacetylase binding activity; protein kinase binding activity; and transcription corepressor activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nuclear speck. Part of protein-containing complex. Colocalizes with centrosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bone marrow (RPKM 20.7), testis (RPKM 18.7) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2q31.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (174348022..174395712, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (174836713..174884400, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (175212750..175260440, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

three SNPs (corepressor interacting with RBPJ 1 (CIR1) rs13009079T>C, ribonucleotide reductase M1 (RRM1) rs1465952T>C and solute carrier family 38, member 4 (SLC38A4) rs2429467C>T), may play a role in the pathogenesis of lung cancer
Title: Polymorphisms in cancer-related pathway genes and lung cancer.
identified as a PAP-1 binding protein and as a splicing factor
Title: CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH71192 (e-PCR)
- UniSTS:22329

RH69954 (e-PCR)
- UniSTS:31813

CIR_8954 (e-PCR)
- UniSTS:468336

RH65948 (e-PCR)
- UniSTS:35955

Homology

Orthologs from Annotation Pipeline: 503 organisms have orthologs with human gene CIR1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone deacetylase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: corepressor interacting with RBPJ 1

Names: CBF1 (RBPJ) interacting corepressor 1; CBF1-interacting corepressor; corepressor interacting with RBPJ, 1; recepin

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004882.4 → NP_004873.3 corepressor interacting with RBPJ 1

See identical proteins and their annotated locations for NP_004873.3

Status: VALIDATED

Source sequence(s)

AC018470, BC015040, BC046098, BU596189

Consensus CDS

CCDS2256.1

UniProtKB/Swiss-Prot

Q86X95, Q8IWI2

Related

ENSP00000339723.3, ENST00000342016.8

Conserved Domains (1) summary

pfam10197
Location:13 → 49

Cir_N; N-terminal domain of CBF1 interacting co-repressor CIR

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

174348022..174395712 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

174836713..174884400 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_199075.1: Suppressed sequence

Description

NM_199075.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.