Gene Gene information from NCBI Gene database.
Entrez ID 10139
Gene name ARF related protein 1
Gene symbol ARFRP1
Synonyms (NCBI Gene)
ARL18ARPArp1
Chromosome 20
Chromosome location 20q13.33
Summary The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golg
miRNA miRNA information provided by mirtarbase database.
166
miRTarBase ID miRNA Experiments Reference
MIRT029524 hsa-miR-26b-5p Microarray 19088304
MIRT793297 hsa-miR-103a CLIP-seq
MIRT793298 hsa-miR-107 CLIP-seq
MIRT793299 hsa-miR-1225-3p CLIP-seq
MIRT793300 hsa-miR-1226 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity TAS 8530503
GO:0005515 Function Protein binding IPI
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604699 662 ENSG00000101246
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13795
Protein name ADP-ribosylation factor-related protein 1 (ARF-related protein 1) (ARP)
Protein function Trans-Golgi-associated GTPase that regulates protein sorting. Controls the targeting of ARL1 and its effector to the trans-Golgi. Required for the lipidation of chylomicrons in the intestine and required for VLDL lipidation in the liver. {ECO:00
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00025 Arf 4 187 ADP-ribosylation factor family Domain
Tissue specificity TISSUE SPECIFICITY: Found in most tissues.
Sequence
Sequence length 201
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Retrograde transport at the Trans-Golgi-Network
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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 Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 9539779
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28440306
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36264766 Associate
★☆☆☆☆
Found in Text Mining only
Choriocarcinoma Choriocarcinoma BEFREE 8782080
★☆☆☆☆
Found in Text Mining only
Esophageal carcinoma Esophageal Carcinoma BEFREE 10767373
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophagus Neoplasm BEFREE 10767373
★☆☆☆☆
Found in Text Mining only
Immunologic Deficiency Syndromes Immunologic Deficiency Syndromes BEFREE 23925294
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 1321332
★☆☆☆☆
Found in Text Mining only
Liver neoplasms Liver neoplasms BEFREE 1321332
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only