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Aliases for ARFRP1 Gene

Aliases for ARFRP1 Gene

  • ADP Ribosylation Factor Related Protein 1 2 3 5
  • ARF-Related Protein 1 3 4
  • ARP1 3 4
  • ARP 3 4
  • ADP-Ribosylation Factor-Related Protein 1 3
  • Helicase-Like Protein NHL 3
  • SCG10 Like-Protein 3
  • ARL18 3

External Ids for ARFRP1 Gene

Previous GeneCards Identifiers for ARFRP1 Gene

  • GC20M062208
  • GC20M063010
  • GC20M063056
  • GC20M063058
  • GC20M061800
  • GC20M062331
  • GC20M059062

Summaries for ARFRP1 Gene

Entrez Gene Summary for ARFRP1 Gene

  • 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-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]

GeneCards Summary for ARFRP1 Gene

ARFRP1 (ADP Ribosylation Factor Related Protein 1) is a Protein Coding gene. Diseases associated with ARFRP1 include Chylomicron Retention Disease. Among its related pathways are Vesicle-mediated transport and Retrograde transport at the Trans-Golgi-Network. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is ARL13B.

UniProtKB/Swiss-Prot for ARFRP1 Gene

  • 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.

Gene Wiki entry for ARFRP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARFRP1 Gene

Genomics for ARFRP1 Gene

Regulatory Elements for ARFRP1 Gene

Enhancers for ARFRP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F063680 1.3 Ensembl ENCODE 12.3 +14.9 14934 24.9 HDGF PKNOX1 MLX ZFP64 SIN3A ZNF548 FOS PAF1 ZNF263 SP3 LIME1 RTEL1 MIR647 MIR1914 SLC2A4RG ENSG00000229299 ENSG00000237371 ARFRP1 C20orf181 ZBTB46-AS1
GH20F063726 1.4 Ensembl ENCODE 10.8 -21.3 -21287 5.4 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 LIME1 RTEL1 ARFRP1 SOX18 ENSG00000274501 ENSG00000273154
GH20F063705 1.1 ENCODE 9.7 +0.5 521 3.8 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9 LIME1 MIR647 MIR1914 ENSG00000237371 SLC2A4RG ARFRP1 GMEB2 ZGPAT
GH20F063735 1.1 ENCODE 9.5 -30.8 -30818 6.8 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 LIME1 RTEL1 ENSG00000237371 ARFRP1 ENSG00000273047 SLC2A4RG
GH20F064254 1.4 FANTOM5 ENCODE 4.3 -548.0 -547955 2.2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 FOS PCMTD2 PRPF6 CICP4 ARFRP1 SAMD10 ENSG00000278171
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARFRP1 on UCSC Golden Path with GeneCards custom track

Promoters for ARFRP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000404451 225 2001 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9

Genomic Location for ARFRP1 Gene

Chromosome:
20
Start:
63,698,642 bp from pter
End:
63,708,025 bp from pter
Size:
9,384 bases
Orientation:
Minus strand

Genomic View for ARFRP1 Gene

Genes around ARFRP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARFRP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARFRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARFRP1 Gene

Proteins for ARFRP1 Gene

  • Protein details for ARFRP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13795-ARFRP_HUMAN
    Recommended name:
    ADP-ribosylation factor-related protein 1
    Protein Accession:
    Q13795
    Secondary Accessions:
    • A0A087WY13
    • B7ZKX7
    • E1P5J9
    • Q6IBQ0
    • V9GYH4

    Protein attributes for ARFRP1 Gene

    Size:
    201 amino acids
    Molecular mass:
    22614 Da
    Quaternary structure:
    • Interacts with SYS1.

    Alternative splice isoforms for ARFRP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARFRP1 Gene

Post-translational modifications for ARFRP1 Gene

  • Ubiquitination at Lys 174
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ARFRP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for ARFRP1

No data available for DME Specific Peptides for ARFRP1 Gene

Domains & Families for ARFRP1 Gene

Gene Families for ARFRP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13795

UniProtKB/Swiss-Prot:

ARFRP_HUMAN :
  • Belongs to the small GTPase superfamily. Arf family.
Family:
  • Belongs to the small GTPase superfamily. Arf family.
genes like me logo Genes that share domains with ARFRP1: view

Function for ARFRP1 Gene

Molecular function for ARFRP1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for ARFRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS 8530503
GO:0005515 protein binding IPI 11438518
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with ARFRP1: view
genes like me logo Genes that share phenotypes with ARFRP1: view

Animal Models for ARFRP1 Gene

MGI Knock Outs for ARFRP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ARFRP1

miRNA for ARFRP1 Gene

miRTarBase miRNAs that target ARFRP1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARFRP1 Gene

Localization for ARFRP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARFRP1 Gene

Golgi apparatus. Golgi apparatus, trans-Golgi network. Note=Located in the trans-Golgi in the GTP-bound active state. {ECO:0000250 UniProtKB:Q8BXL7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARFRP1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 2
extracellular 1
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for ARFRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005794 Golgi apparatus IEA,IDA 19224922
GO:0005802 trans-Golgi network IDA 16129887
GO:0005829 cytosol TAS --
GO:0016020 membrane TAS 8530503
genes like me logo Genes that share ontologies with ARFRP1: view

Pathways & Interactions for ARFRP1 Gene

genes like me logo Genes that share pathways with ARFRP1: view

Interacting Proteins for ARFRP1 Gene

Selected Interacting proteins: Q13795-ARFRP_HUMAN for ARFRP1 Gene via IID

Gene Ontology (GO) - Biological Process for ARFRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 8530503
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007369 gastrulation IEA --
GO:0034067 protein localization to Golgi apparatus IMP 19224922
GO:0042147 retrograde transport, endosome to Golgi IMP 16129887
genes like me logo Genes that share ontologies with ARFRP1: view

No data available for SIGNOR curated interactions for ARFRP1 Gene

Transcripts for ARFRP1 Gene

Unigene Clusters for ARFRP1 Gene

ADP-ribosylation factor related protein 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARFRP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d · 11e ·
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - -
SP9: - - - - - - - -
SP10: -
SP11: - -
SP12: - - - - -
SP13:
SP14: - -
SP15:

ExUns: 11f · 11g · 11h · 11i
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for ARFRP1 Gene

GeneLoc Exon Structure for
ARFRP1
ECgene alternative splicing isoforms for
ARFRP1

Expression for ARFRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARFRP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARFRP1 Gene

This gene is overexpressed in Islet of Langerhans (10.2), Placenta (9.7), and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARFRP1 Gene



Protein tissue co-expression partners for ARFRP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ARFRP1 Gene:

ARFRP1

SOURCE GeneReport for Unigene cluster for ARFRP1 Gene:

Hs.389277

mRNA Expression by UniProt/SwissProt for ARFRP1 Gene:

Q13795-ARFRP_HUMAN
Tissue specificity: Found in most tissues.
genes like me logo Genes that share expression patterns with ARFRP1: view

Primer Products

No data available for mRNA differential expression in normal tissues for ARFRP1 Gene

Orthologs for ARFRP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ARFRP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARFRP1 34 35
  • 99.5 (n)
oppossum
(Monodelphis domestica)
Mammalia ARFRP1 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARFRP1 34 35
  • 89.88 (n)
dog
(Canis familiaris)
Mammalia ARFRP1 34 35
  • 89.55 (n)
mouse
(Mus musculus)
Mammalia Arfrp1 34 16 35
  • 88.56 (n)
rat
(Rattus norvegicus)
Mammalia Arfrp1 34
  • 88.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARFRP1 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARFRP1 34 35
  • 78.11 (n)
lizard
(Anolis carolinensis)
Reptilia ARFRP1 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75956 34
African clawed frog
(Xenopus laevis)
Amphibia cg7039-prov 34
zebrafish
(Danio rerio)
Actinopterygii arfrp1 34 35
  • 78.23 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2128 34
fruit fly
(Drosophila melanogaster)
Insecta CG7039 36 34 35
  • 66.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004586 34
  • 61.31 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54E10BR.2 34
  • 49.82 (n)
Y54E10BR.2 36
  • 40 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL261W 34
  • 58.55 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARL3 34 35
  • 49.4 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GB1 34
  • 49.38 (n)
rice
(Oryza sativa)
Liliopsida Os03g0392300 34
  • 51.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 72 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00333 34
  • 52.62 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3773 34
Species where no ortholog for ARFRP1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARFRP1 Gene

ENSEMBL:
Gene Tree for ARFRP1 (if available)
TreeFam:
Gene Tree for ARFRP1 (if available)

Paralogs for ARFRP1 Gene

Paralogs for ARFRP1 Gene

genes like me logo Genes that share paralogs with ARFRP1: view

Variants for ARFRP1 Gene

Sequence variations from dbSNP and Humsavar for ARFRP1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_036559 A breast cancer sample
rs754782569 Likely benign 63,698,309(+) TCATC(A/G)ACTTT nc-transcript-variant, downstream-variant-500B, reference, missense
rs1048665 -- 63,700,637(-) AGGCG(A/C)GATTG nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime
rs11086122 -- 63,701,285(+) ATTCA(-/A/C)CCTGG intron-variant
rs111259883 -- 63,707,086(+) AGCGT(A/G)TACAT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for ARFRP1 Gene

Variant ID Type Subtype PubMed ID
dgv7676n54 CNV loss 21841781
esv2758806 CNV gain+loss 17122850
nsv1160690 CNV deletion 26073780
nsv428381 CNV gain+loss 18775914
nsv470563 CNV loss 18288195
nsv586611 CNV loss 21841781
nsv828801 CNV loss 20364138
nsv953308 CNV deletion 24416366

Variation tolerance for ARFRP1 Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.95; 19.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARFRP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARFRP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARFRP1 Gene

Disorders for ARFRP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARFRP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chylomicron retention disease
  • retinitis pigmentosa
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ARFRP1

Genetic Association Database (GAD)
ARFRP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARFRP1
genes like me logo Genes that share disorders with ARFRP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARFRP1 Gene

Publications for ARFRP1 Gene

  1. ARP is a plasma membrane-associated Ras-related GTPase with remote similarity to the family of ADP-ribosylation factors. (PMID: 8530503) Schuermann A. … Joost H.-G. (J. Biol. Chem. 1995) 2 3 4 64
  2. Targeting of the Arf-like GTPase Arl3p to the Golgi requires N- terminal acetylation and the membrane protein Sys1p. (PMID: 15077113) Behnia R. … Munro S. (Nat. Cell Biol. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  5. Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster. (PMID: 10655513) Bai C. … Caskey C.T. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 64

Products for ARFRP1 Gene

Sources for ARFRP1 Gene

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