CYRIB (CYFIP related Rac1 interactor B)

Gene

• Entrez ID: 51571
• Gene name: CYFIP related Rac1 interactor B
• Gene symbol: CYRIB
• Synonyms (NCBI Gene): BM-009, CYRI, CYRI-B, FAM49B, L1
• Chromosome: 8
• Chromosome location: 8q24.21

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IEA
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	TAS
GO:0005739	Component	Mitochondrion	IDA	29059164
GO:0005739	Component	Mitochondrion	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0016020	Component	Membrane	IEA
GO:0023030	Function	MHC class Ib protein binding, via antigen binding groove	IEA
GO:0023030	Function	MHC class Ib protein binding, via antigen binding groove	ISS
GO:0030334	Process	Regulation of cell migration	IMP	30250061
GO:0030833	Process	Regulation of actin filament polymerization	IEA
GO:0030837	Process	Negative regulation of actin filament polymerization	IMP	30250061
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	30250061, 31285585
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032729	Process	Positive regulation of type II interferon production	ISS
GO:0050870	Process	Positive regulation of T cell activation	IBA
GO:0050870	Process	Positive regulation of T cell activation	IEA
GO:0050870	Process	Positive regulation of T cell activation	ISS
GO:0050920	Process	Regulation of chemotaxis	IMP	30250061
GO:0051058	Process	Negative regulation of small GTPase mediated signal transduction	IEA
GO:0051058	Process	Negative regulation of small GTPase mediated signal transduction	IMP	30250061, 31285585
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0071219	Process	Cellular response to molecule of bacterial origin	IEA
GO:0071219	Process	Cellular response to molecule of bacterial origin	IMP	31285585
GO:0090140	Process	Regulation of mitochondrial fission	IEA
GO:0090140	Process	Regulation of mitochondrial fission	IMP	29059164
GO:2000114	Process	Regulation of establishment of cell polarity	IMP	30250061
GO:2000568	Process	Positive regulation of memory T cell activation	IEA
GO:2000568	Process	Positive regulation of memory T cell activation	ISS

Other IDs

• MIM: 617978
• HGNC: 25216
• e!Ensembl: ENSG00000153310

Protein

• UniProt ID: Q9NUQ9
• Protein name: CYFIP-related Rac1 interactor B (L1)
• Protein function: Negatively regulates RAC1 signaling and RAC1-driven cytoskeletal remodeling (PubMed:30250061, PubMed:31285585). Regulates chemotaxis, cell migration and epithelial polarization by controlling the polarity, plasticity, duration and extent of prot
• PDB: 7AJK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07159	DUF1394	18 → 320	Protein of unknown function (DUF1394)	Family

• Sequence:

  MGNLLKVLTCTDLEQGPNFFLDFENAQPTESEKEIYNQVNVVLKDAEGILEDLQSYRGAG
  HEIREAIQHPADEKLQEKAWGAVVPLVGKLKKFYEFSQRLEAALRGLLGALTSTPYSPTQ
  HLEREQALAKQFAEILHFTLRFDELKMTNPAIQNDFSYYRRTLSRMRINNVPAEGENEVN
  NELANRMSLFYAEATPMLKTLSDATTKFVSENKNLPIENTTDCLSTMASVCRVMLETPEY
  RSRFTNEETVSFCLRVMVGVIILYDHVHPVGAFAKTSKIDMKGCIKVLKDQPPNSVEGLL
  NALRYTTKHLNDETTSKQIKSMLQ

• Sequence length: 324

Pathways

KEGG:

Regulation of actin cytoskeleton

Reactome:

Platelet degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE, DIASTOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29059164		★☆☆☆☆ Found in Text Mining only
Cancer of Digestive System	Gastric Cancer	BEFREE	31010678		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31010678		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31554135		★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	CTD_human_DG	29556499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30603909		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29059164, 31554135		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29059164, 31010678		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	GWASDB_DG	23726511		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Post-Traumatic Stress Disorder	Stress Disorder	GWASCAT_DG	23726511		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	30891314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26552850	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36499755	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30603909		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17869320	Inhibit	★☆☆☆☆ Found in Text Mining only