REM1 (RRAD and GEM like GTPase 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 28954
Gene name RRAD and GEM like GTPase 1
Gene symbol REM1
Synonyms (NCBI Gene)
GD:REMGES
Chromosome 20
Chromosome location 20q11.21
Summary The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT019122 hsa-miR-335-5p Microarray 18185580
MIRT437533 hsa-miR-19b-3p Immunoprecipitaion 22382630
MIRT1300286 hsa-miR-214 CLIP-seq
MIRT1300287 hsa-miR-3127-5p CLIP-seq
MIRT1300288 hsa-miR-3619-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IEA
GO:0005246 Function Calcium channel regulator activity IBA
GO:0005516 Function Calmodulin binding IEA
GO:0005525 Function GTP binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
610388 15922 ENSG00000088320
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75628
Protein name GTP-binding protein REM 1 (GTPase-regulating endothelial cell sprouting) (Rad and Gem-like GTP-binding protein 1)
Protein function Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling.
PDB 2NZJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 82 → 245 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Most highly expressed in the endothelial lining of the blood vessels in uterus and heart. Lower levels found in spleen, lymph node, kidney and testis. Also found in cells with secretory function such as the islets of Langerhans, lobule
Sequence 
MTLNTEQEAKTPLHRRASTPLPLSPRGHQPGRLSTVPSTQSQHPRLGQSASLNPPTQKPS
PAPDDWSSESSDSEGSWEALYRVVLLGDPGVGKTSLASLFAGKQERDLHEQLGEDVYERT
LTVDGEDTTLVVVDTWEAEKLDKSWSQESCLQGGSAYVIVYSIADRGSFESASELRIQLR
RTHQADHVPIILVGNKADLARCREVSVEEGRACAVVFDCKFIETSATLQHNVAELFEGVV
RQLRLRRRDSAAKEPPAPRRPASLAQRARRFLARLTARSARRRALKARSKSCHNLAVL
Sequence length 298
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Long QT syndrome Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (103)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 27259812
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 27027974
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 29045077
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 9268775
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 28186315, 29780335, 30878855, 31207456
★★★★★
★☆☆☆☆
Found in Text Mining only
Autonomic nervous system disorders Autonomic Central Nervous System Diseases BEFREE 26725142
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 29725459, 30106096
★★★★★
★☆☆☆☆
Found in Text Mining only
Behavior Disorders Behavior Disorders BEFREE 20616563, 25934536, 28119583, 28328536, 29038946, 29936902, 30736884, 31234200, 31442548, 31733692, 9436739
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 30878855
★★★★★
★☆☆☆☆
Found in Text Mining only
Borderline Personality Disorder Borderline personality disorder BEFREE 9268775
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for REM1.

No additional diseases found yet through genes similar to REM1.