PIMREG (PICALM interacting mitotic regulator)

Gene

• Entrez ID: 54478
• Gene name: PICALM interacting mitotic regulator
• Gene symbol: PIMREG
• Synonyms (NCBI Gene): CATS, FAM64A, RCS1
• Chromosome: 17
• Chromosome location: 17p13.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18482256, 25416956, 26871637, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0051301	Process	Cell division	IEA

Other IDs

• MIM: 617611
• HGNC: 25483
• e!Ensembl: ENSG00000129195

Protein

• UniProt ID: Q9BSJ6
• Protein name: Protein PIMREG (CALM-interactor expressed in thymus and spleen) (PICALM-interacting mitotic regulator) (Regulator of chromosome segregation protein 1)
• Protein function: During mitosis, may play a role in the control of metaphase-to-anaphase transition.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07326	RCS1	1 → 232	Regulator of chromosome segregation 1	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in thymus (at protein level). Detected in spleen, colon, ovary and small intestines. {ECO:0000269|PubMed:16491119, ECO:0000269|PubMed:19383357}.
• Sequence:

  MASRWQNMGTSVRRRSLQHQEQLEDSKELQPVVSHQETSVGALGSLCRQFQRRLPLRAVN
  LNLRAGPSWKRLETPEPGQQGLQAAARSAKSALGAVSQRIQESCQSGTKWLVETQVKARR
  RKRGAQKGSGSPTHSLSQKSTRLSGAAPAHSAADPWEKEHHRLSVRMGSHAHPLRRSRRE
  AAFRSPYSSTEPLCSPSESDSDLEPVGAGIQHLQKLSQELDEAIMAEERKQALSDRQGFI
  LKDVYASP

• Sequence length: 248

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
CONE-ROD DYSTROPHY 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	7717452	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	24676531, 30979502, 30979686, 31264076		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33313822	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37227120	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37227120	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29968393	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31061131		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	20880494		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	7717452	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37227120	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37081231	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37081231	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19383357		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24676531, 30979502, 30979686, 31264076		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30695070		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31061131		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19383357, 30979502		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37227120	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30695070		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30695070	Associate	★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	37227120	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34215720	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24676531		★☆☆☆☆ Found in Text Mining only