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. [provide... See more...

Aliases for ARFRP1 Gene

Aliases for ARFRP1 Gene

  • ADP Ribosylation Factor Related Protein 1 2 3 5
  • ADP-Ribosylation Factor-Related Protein 1 3 4
  • ARF-Related Protein 1 3 4
  • ARP 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Helicase-Like Protein NHL 3
  • SCG10 Like-Protein 3
  • ARL18 3
  • Arp1 3
  • ARP1 4

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 and Dyskeratosis Congenita Autosomal Recessive. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is ARL3.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ARFRP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARFRP1 Gene

Genomics for ARFRP1 Gene

GeneHancer (GH) Regulatory Elements for ARFRP1 Gene

Promoters and enhancers for ARFRP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARFRP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARFRP1

Top Transcription factor binding sites by QIAGEN in the ARFRP1 gene promoter:
  • aMEF-2
  • ATF-2
  • COMP1
  • CRE-BP1
  • HEN1
  • HSF1short
  • MEF-2
  • MEF-2A
  • NF-kappaB1

Genomic Locations for ARFRP1 Gene

Genomic Locations for ARFRP1 Gene
chr20:63,698,642-63,708,025
(GRCh38/hg38)
Size:
9,384 bases
Orientation:
Minus strand
chr20:62,329,995-62,339,377
(GRCh37/hg19)
Size:
9,383 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 Lys174
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARFRP1 Gene

Domains & Families for ARFRP1 Gene

Gene Families for ARFRP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARFRP1 Gene

Blocks:
  • ADP-ribosylation factor
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARFRP1 Gene

GenScript: Design optimal peptide antigens:
  • ADP-ribosylation factor-related protein 1 (ARFRP_HUMAN)
  • ADP-ribosylation factor related protein 1 (B7ZKY8_HUMAN)
  • ADP-ribosylation factor related protein 1, isoform CRA_a (E1P5J8_HUMAN)
  • ADP-ribosylation factor related protein 1 (Q9BQK5_HUMAN)
  • ADP-ribosylation factor related protein 1, isoform CRA_d (Q9BQK6_HUMAN)

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.

Phenotypes From GWAS Catalog for ARFRP1 Gene

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

CRISPR Products

miRNA for ARFRP1 Gene

miRTarBase miRNAs that target ARFRP1

Clone 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
endosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARFRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA,IBA 19224922
GO:0005802 trans-Golgi network IDA 16129887
GO:0005829 cytosol TAS --
GO:0016020 membrane TAS 8530503
GO:0032588 trans-Golgi network membrane TAS --
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

Gene Ontology (GO) - Biological Process for ARFRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0007165 signal transduction TAS 8530503
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

Drugs & Compounds for ARFRP1 Gene

No Compound Related Data Available

Transcripts for ARFRP1 Gene

mRNA/cDNA for ARFRP1 Gene

8 REFSEQ mRNAs :
29 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ARFRP1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ARFRP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.5 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARFRP1 31
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARFRP1 31 30
  • 89.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARFRP1 31 30
  • 89.55 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arfrp1 17 31 30
  • 88.56 (n)
rat
(Rattus norvegicus)
Mammalia Arfrp1 30
  • 88.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARFRP1 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARFRP1 31 30
  • 78.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARFRP1 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75956 30
African clawed frog
(Xenopus laevis)
Amphibia cg7039-prov 30
zebrafish
(Danio rerio)
Actinopterygii arfrp1 31 30
  • 78.23 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2128 30
fruit fly
(Drosophila melanogaster)
Insecta CG7039 31 32 30
  • 66.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004586 30
  • 61.31 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54E10BR.2 30
  • 49.82 (n)
Y54E10BR.2 32
  • 40 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL261W 30
  • 58.55 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARL3 31 30
  • 49.4 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons GB1 30
  • 49.38 (n)
rice
(Oryza sativa)
Liliopsida Os03g0392300 30
  • 51.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 72 (a)
OneToOne
Cin.3773 30
bread mold
(Neurospora crassa)
Ascomycetes NCU00333 30
  • 52.62 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3773 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for ARFRP1: view image

Paralogs for ARFRP1 Gene

(25) SIMAP similar genes for ARFRP1 Gene using alignment to 6 proteins:

  • ARFRP_HUMAN
  • B7ZKY8_HUMAN
  • H0UI96_HUMAN
  • H0Y2L5_HUMAN
  • V9GYH4_HUMAN
  • V9GYZ3_HUMAN
genes like me logo Genes that share paralogs with ARFRP1: view

Variants for ARFRP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARFRP1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
781505 Benign: not provided 63,700,673(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
rs1555816562 Uncertain Significance: Dyskeratosis congenita, autosomal recessive, 5 63,698,647(-) T/C NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs767909940 Uncertain Significance: Dyskeratosis congenita, autosomal recessive, 5 63,698,646(-) G/A NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
VAR_036559 A breast cancer sample p.Leu108Val

Additional dbSNP identifiers (rs#s) for ARFRP1 Gene

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)

Additional Variant Information 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

(5) MalaCards diseases for ARFRP1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • was
dyskeratosis congenita autosomal recessive
  • autosomal recessive dyskeratosis congenita
hematocele of tunica vaginalis testis
  • hematocele
dyskeratosis congenita
  • zinsser-cole-engman syndrome
otosclerosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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) Schürmann A … Joost HG (The Journal of biological chemistry 1995) 2 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. 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 (Nature cell biology 2004) 3 4 54
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 54
  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 CT (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 54

Products for ARFRP1 Gene