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Aliases for ARFRP1 Gene

Aliases for ARFRP1 Gene

  • ADP-Ribosylation Factor Related Protein 1 2 3
  • ARP 3 4 6
  • ARF-Related Protein 1 3 4
  • Arp1 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 wiskott-aldrich syndrome. GO annotations related to this gene include GTP binding and GTPase 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

Genomic Location for ARFRP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ARFRP1 Gene at MOPED

Post-translational modifications for ARFRP1 Gene

  • Ubiquitination at Lys174
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARFRP1 Gene

Domains for ARFRP1 Gene

Gene Families for ARFRP1 Gene

HGNC:
  • ARF :ADP-ribosylation factors

Graphical View of Domain Structure for InterPro Entry

Q13795

UniProtKB/Swiss-Prot:

ARFRP_HUMAN :
  • Q13795
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:0004871 signal transducer activity --
GO:0005515 protein binding IPI 11438518
GO:0005525 GTP binding IEA --
GO:0019001 guanyl nucleotide binding --
genes like me logo Genes that share ontologies with ARFRP1: view

Phenotypes for ARFRP1 Gene

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

Animal Models for ARFRP1 Gene

MGI Knock Outs for ARFRP1:

miRNA for ARFRP1 Gene

miRTarBase miRNAs that target ARFRP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for ARFRP1 Gene COMPARTMENTS Subcellular localization image for ARFRP1 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ARFRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus --
GO:0005737 cytoplasm --
GO:0005794 Golgi apparatus IDA --
GO:0005802 trans-Golgi network IDA 16129887
genes like me logo Genes that share ontologies with ARFRP1: view

Pathways for ARFRP1 Gene

SuperPathways for ARFRP1 Gene

No Data Available

Interacting Proteins for ARFRP1 Gene

Selected Interacting proteins: Q13795-ARFRP_HUMAN for ARFRP1 Gene via I2D

Gene Ontology (GO) - Biological Process for ARFRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0006886 intracellular protein transport --
GO:0007165 signal transduction TAS 8530503
GO:0007186 G-protein coupled receptor signaling pathway --
GO:0007264 small GTPase mediated signal transduction IEA --
genes like me logo Genes that share ontologies with ARFRP1: view

No data available for Pathways by source for ARFRP1 Gene

Transcripts for ARFRP1 Gene

Unigene Clusters for ARFRP1 Gene

ADP-ribosylation factor related protein 1:
Representative Sequences:

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 for ARFRP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for ARFRP1 Gene

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 expressions with ARFRP1: view

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 35
  • 99.5 (n)
  • 99.5 (a)
ARFRP1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARFRP1 35
  • 89.88 (n)
  • 97.01 (a)
ARFRP1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARFRP1 35
  • 89.55 (n)
  • 94.53 (a)
ARFRP1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arfrp1 35
  • 88.56 (n)
  • 97.01 (a)
Arfrp1 16
Arfrp1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARFRP1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARFRP1 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arfrp1 35
  • 88.39 (n)
  • 97.01 (a)
chicken
(Gallus gallus)
Aves ARFRP1 35
  • 78.11 (n)
  • 91.04 (a)
ARFRP1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARFRP1 36
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cg7039-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75956 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2128 35
zebrafish
(Danio rerio)
Actinopterygii arfrp1 35
  • 78.23 (n)
  • 87.86 (a)
arfrp1 36
  • 87 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004586 35
  • 61.31 (n)
  • 62.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7039 35
  • 66.67 (n)
  • 63.82 (a)
CG7039 36
  • 64 (a)
OneToOne
CG7039 37
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54E10BR.2 35
  • 49.82 (n)
  • 40.22 (a)
Y54E10BR.2 37
  • 40 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL261W 35
  • 58.55 (n)
  • 47.15 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARL3 35
  • 49.4 (n)
  • 49.22 (a)
ARL3 36
  • 47 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons GB1 35
  • 49.38 (n)
  • 44.92 (a)
rice
(Oryza sativa)
Liliopsida Os03g0392300 35
  • 51.52 (n)
  • 44.39 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00333 35
  • 52.62 (n)
  • 44.16 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3773 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 72 (a)
OneToOne
Species with no ortholog for ARFRP1:
  • 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 MAF
rs1048665 -- 63,700,637(-) AGGCG(A/C/T)GATTG reference, synonymous-codon, utr-variant-3-prime, nc-transcript-variant
rs1291210 -- 63,703,941(+) TGTCC(A/C)AGCGT intron-variant
rs1623866 -- 63,701,670(+) AACCA(A/G)GCTTG intron-variant
rs1758206 -- 63,704,982(-) GATCC(A/G)CAGAG intron-variant
rs2236508 -- 63,701,763(+) CACCT(A/G)CTCCC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4618n71 CNV Loss 21882294
nsv913190 CNV Loss 21882294
dgv1344e1 CNV Complex 17122850
nsv913213 CNV Loss 21882294
nsv470563 CNV Loss 18288195
dgv4644n71 CNV Loss 21882294
dgv1345e1 CNV Complex 17122850
nsv428381 CNV Gain+Loss 18775914
nsv913241 CNV Loss 21882294
dgv4645n71 CNV Loss 21882294
dgv4646n71 CNV Loss 21882294
dgv4647n71 CNV Loss 21882294
nsv913249 CNV Loss 21882294
nsv913250 CNV Loss 21882294
nsv913253 CNV Loss 21882294
nsv913255 CNV Gain 21882294
nsv828801 CNV Loss 20364138

Relevant External Links for ARFRP1 Gene

HapMap Linkage Disequilibrium report
ARFRP1

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

Disorders for ARFRP1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for ARFRP1 Gene including...

Search for ARFRP1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for ARFRP1 Gene

(1) Novoseek inferred disease relationships for ARFRP1 Gene

Disease -log(P) Hits PubMed IDs
wiskott-aldrich syndrome 65 1

Relevant External Links for ARFRP1

Genetic Association Database (GAD)
ARFRP1
genes like me logo Genes that share disorders with ARFRP1: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  4. 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
  5. 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

Products for ARFRP1 Gene

  • antibodies-online proteins for ARFRP1
  • antibodies-online antibodies for ARFRP1
  • antibodies-online kits for ARFRP1

Sources for ARFRP1 Gene

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