CYRIB Gene

CYRIB, a member of the CYRI family involved in cell migration and actin dynamics

Gene Information Card

Symbol CYRIB
Full Name CYFIP related Rac1 interactor B
Gene Type protein-coding
Chromosomal Location 5q31.3
NCBI Gene ID 348013 ncbi.nlm.nih.gov/gene/348013
Ensembl ID ENSG00000164327
UniProt ID Q9NUQ9
OMIM ID 617359
HGNC ID 26248
Aliases FAM49B, CGI-48, PRO1855

Description

CYRIB (CYFIP related Rac1 interactor B) is a protein-coding gene that encodes a member of the CYRI (CYFIP-related Rac1 interactor) family. The protein is involved in regulating actin dynamics and cell migration by interacting with Rac1 and modulating lamellipodia formation. CYRIB is widely expressed in various tissues and has been implicated in cancer progression and immune cell function.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Colorectal cancer Altered CYRIB expression may affect cell migration and invasion via Rac1 signaling COSMIC, PubMed
Breast cancer Upregulation of CYRIB associated with poor prognosis and metastasis COSMIC, PubMed
Inflammatory bowel disease CYRIB variants linked to immune dysregulation ClinVar, PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 15.2 Medium
Lung 12.8 Medium
Liver 8.5 Low
Kidney 10.1 Medium
Testis 20.3 High
Cell Line Expression
Cell Line nTPM Notes
HeLa 18.5 High expression
HEK293 14.2 Medium expression
MCF7 22.1 High expression
A549 11.7 Medium expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.287A>G (p.Asn96Ser) Missense <0.01% Unknown functional impact
c.512C>T (p.Pro171Leu) Missense <0.01% Likely benign
c.739G>A (p.Gly247Arg) Missense <0.01% Uncertain significance
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in CYRIB.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in CYRIB.

Dominant Negative (DN)

No confirmed dominant-negative mutations reported in CYRIB.

Pathways

• Rac1 signaling pathway
• Regulation of actin cytoskeleton

Protein Summary

The CYRIB protein (UniProt Q9NUQ9) is a 290-amino acid protein that localizes to the cytosol and interacts with Rac1. It functions as a negative regulator of Rac1 activity, thereby controlling lamellipodia formation and cell migration. CYRIB is evolutionarily conserved and expressed in multiple tissues, with highest levels in testis and certain cancer cell lines.

Related Products

Product name Cat.No. Species Gene ID
CYRIB Knockout HEK293 Cell Line EDJ-KQ1922 Human 51571 Details Get a Quote
CYRIB Knockout A-549 Cell Line EDJ-KQ20543 Human 51571 Details Get a Quote
CYRIB Knockout HCT 116 Cell Line EDJ-KQ21841 Human 51571 Details Get a Quote
CYRIB Knockout HeLa Cell Line EDJ-KQ21842 Human 51571 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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