ARFRP1 ARF related protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARFRP1provided by HGNC
Official Full Name: ARF related protein 1provided by HGNC
Primary source: HGNC:HGNC:662
See related: Ensembl:ENSG00000101246 MIM:604699; AllianceGenome:HGNC:662
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARP; Arp1; ARL18
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-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]
Expression: Ubiquitous expression in spleen (RPKM 7.0), fat (RPKM 5.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (63698647..63707976, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (65518953..65528283, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (62330000..62339328, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The ARFRP1-dependent Golgi scaffolding protein GOPC is required for insulin secretion from pancreatic beta-cells.
Title: The ARFRP1-dependent Golgi scaffolding protein GOPC is required for insulin secretion from pancreatic β-cells.
LncRNA ARFRP1 knockdown inhibits LPS-induced the injury of chondrocytes by regulation of NF-kappaB pathway through modulating miR-15a-5p/TLR4 axis.
Title: LncRNA ARFRP1 knockdown inhibits LPS-induced the injury of chondrocytes by regulation of NF-κB pathway through modulating miR-15a-5p/TLR4 axis.
The amphipathic helices of Arfrp1 and Arl14 are sufficient to determine subcellular localizations.
Title: The amphipathic helices of Arfrp1 and Arl14 are sufficient to determine subcellular localizations.
The ARFRP1 is a master regulator of retrograde-carrier tethering to the trans-Golgi network (TGN).
Title: ARFRP1 functions upstream of ARL1 and ARL5 to coordinate recruitment of distinct tethering factors to the trans-Golgi network.
lack of Arfrp1 increases the abundance of lipolysis-modulating enzymes TERA/VCP, FAF2 and Plin2 at LDs, which might decrease lipolysis and reduce availability of fatty acids for triglyceride synthesis and their release via chylomicrons.
Title: The GTPase ARFRP1 affects lipid droplet protein composition and triglyceride release from intracellular storage of intestinal Caco-2 cells.
Results provide evidence that ARFRP1 is required for HCV propagation through its interaction with NS5A protein. Also, ARFRP1 is involved in the regulation of lipid droplet (LD) growth in HCV-infected cells and, recruits SNAP23 to sites in close proximity to LDs.
Title: ADP-ribosylation Factor-related Protein 1 Interacts with NS5A and Regulates Hepatitis C Virus Propagation.
ARFRP1 shifted from a predominantly cis-Golgi and endosome-to-trans-Golgi network localization to localizing both Golgi and non-Golgi vesicular structures in hNaa30-depleted cells.
Title: Depletion of the human N-terminal acetyltransferase hNaa30 disrupts Golgi integrity and ARFRP1 localization.
One or more of 7 genes residing in a chromosome 20q13.3 CNV region appears to influence BMI. The strongest candidate is ARFRP1.
Title: A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity.
Propose that Arfrp1 exposes a binding site on AP-1 that recognizes the Vangl2 sorting motif for capture into a transport vesicle destined for the proximal surface of a polarized epithelial cell.
Title: A novel GTP-binding protein-adaptor protein complex responsible for export of Vangl2 from the trans Golgi network.
The GTPase ARFRP1 controls the lipidation of chylomicrons in the Golgi of the intestinal epithelium.
Title: The GTPase ARFRP1 controls the lipidation of chylomicrons in the Golgi of the intestinal epithelium.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:485653

SHGC-64071 (e-PCR)
- UniSTS:43076

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi to plasma membrane protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gastrulation	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to Golgi apparatus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde transport, endosome to Golgi	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ADP-ribosylation factor-related protein 1

Names: ADP ribosylation factor related protein 1; SCG10 like-protein; epididymis secretory sperm binding protein; helicase-like protein NHL

NP_001128230.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

NP_001254473.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

NP_001254474.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

NP_001254475.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

NP_001254476.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

NP_001254477.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

NP_001254478.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

NP_003215.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

XP_011526784.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

XP_011526785.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

XP_047295777.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

XP_047295778.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

XP_047295779.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

XP_054178795.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

XP_054178796.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

XP_054178797.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

XP_054178798.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

XP_054178799.1

EC 3.6.5.1

EC 3.6.5.2

EC 3.6.5.3

EC 3.6.5.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001134758.4 → NP_001128230.1 ADP-ribosylation factor-related protein 1 isoform b

See identical proteins and their annotated locations for NP_001128230.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate segment in the 3' terminal exon, compared to variant 1, which results in the introduction of an early stop codon and a protein (isoform B) with a shorter C-terminus, compared to isoform 1. Variants 2 and 8 encode the same protein.

Source sequence(s)

AL121845, AW139294, BC143447, BM546222, KF511326

Consensus CDS

CCDS46630.1

UniProtKB/TrEMBL

B7ZKY8

Conserved Domains (1) summary

cd04160
Location:19 → 173

Arfrp1; Arf-related protein 1 (Arfrp1)
NM_001267544.3 → NP_001254473.1 ADP-ribosylation factor-related protein 1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate segment in the 3' coding region and contains an alternate segment in the 3' terminal exon, compared to variant 1, which results in a frameshift and a protein (isoform C) with a shorter and distinct C-terminus, compared to isoform A.

Source sequence(s)

AL121845, AW139294, BC143477, BM546222, KF511326

Conserved Domains (2) summary

COG1100
Location:17 → 113

Gem1; GTPase SAR1 family domain [General function prediction only]

cl21455
Location:19 → 116

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001267545.3 → NP_001254474.1 ADP-ribosylation factor-related protein 1 isoform d

See identical proteins and their annotated locations for NP_001254474.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon in the 3' coding region and contains an alternate segment in the 3' terminal exon, compared to variant 1, which results in a frameshift and a protein (isoform D) with a shorter and distinct C-terminus, compared to isoform A.

Source sequence(s)

AL121845, AW139294, BI524032, BM546222, CA489361, KF511326

Consensus CDS

CCDS68173.1

UniProtKB/Swiss-Prot

Q13795

Related

ENSP00000483130.1, ENST00000614942.4

Conserved Domains (1) summary

cl21455
Location:19 → 120

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001267546.3 → NP_001254475.1 ADP-ribosylation factor-related protein 1 isoform e

See identical proteins and their annotated locations for NP_001254475.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an exon in the 5' coding region, compared to variant 1, which results in the use of an in-frame downstream start codon and a protein (isoform E) with a shorter N-terminus, compared to isoform A.

Source sequence(s)

AL121845, AW139294, BM546222, KF511326

Consensus CDS

CCDS68172.1

UniProtKB/Swiss-Prot

Q13795

Related

ENSP00000476756.1, ENST00000607873.1

Conserved Domains (1) summary

cd04160
Location:1 → 139

Arfrp1; Arf-related protein 1 (Arfrp1)
NM_001267547.3 → NP_001254476.1 ADP-ribosylation factor-related protein 1 isoform a

See identical proteins and their annotated locations for NP_001254476.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1, and encodes isoform A. Variants 1, 6, and 7 encode the same protein.

Source sequence(s)

AL121845, AW139294, BC143448, BC143467, BM546222, KF511326

Consensus CDS

CCDS13533.1

UniProtKB/Swiss-Prot

A0A087WY13, B7ZKX7, E1P5J9, Q13795, Q6IBQ0, V9GYH4

UniProtKB/TrEMBL

A0A384P5U7, B7ZKY8

Related

ENSP00000483486.1, ENST00000622789.5

Conserved Domains (1) summary

cd04160
Location:19 → 186

Arfrp1; Arf-related protein 1 (Arfrp1)
NM_001267548.3 → NP_001254477.1 ADP-ribosylation factor-related protein 1 isoform a

See identical proteins and their annotated locations for NP_001254477.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1, and encodes isoform A. Variants 1, 6, and 7 encode the same protein.

Source sequence(s)

AL121845, AW139294, BC092480, BX463457, KF511326

Consensus CDS

CCDS13533.1

UniProtKB/Swiss-Prot

A0A087WY13, B7ZKX7, E1P5J9, Q13795, Q6IBQ0, V9GYH4

UniProtKB/TrEMBL

A0A384P5U7, B7ZKY8

Related

ENSP00000479940.1, ENST00000619493.4

Conserved Domains (1) summary

cd04160
Location:19 → 186

Arfrp1; Arf-related protein 1 (Arfrp1)
NM_001267549.3 → NP_001254478.1 ADP-ribosylation factor-related protein 1 isoform b

See identical proteins and their annotated locations for NP_001254478.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and contains an alternate segment in the 3' terminal exon, compared to variant 1, which results in the introduction of an early stop codon and a protein (isoform B) with a shorter C-terminus, compared to isoform A. Variants 2 and 8 encode the same protein.

Source sequence(s)

AL121845, AW139294, BC143448, BM546222, KF511326

Consensus CDS

CCDS46630.1

UniProtKB/TrEMBL

B7ZKY8

Related

ENSP00000479058.1, ENST00000612157.4

Conserved Domains (1) summary

cd04160
Location:19 → 173

Arfrp1; Arf-related protein 1 (Arfrp1)
NM_003224.6 → NP_003215.1 ADP-ribosylation factor-related protein 1 isoform a

See identical proteins and their annotated locations for NP_003215.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest isoform (A). Variants 1, 6, and 7 encode the same protein.

Source sequence(s)

AL121845, AW139294, BC093967, BM546222, KF511326

Consensus CDS

CCDS13533.1

UniProtKB/Swiss-Prot

A0A087WY13, B7ZKX7, E1P5J9, Q13795, Q6IBQ0, V9GYH4

UniProtKB/TrEMBL

A0A384P5U7, B7ZKY8

Conserved Domains (1) summary

cd04160
Location:19 → 186

Arfrp1; Arf-related protein 1 (Arfrp1)

RNA

NR_051954.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9) is represented as non-coding due to the use of an alternate splice site, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL121845, AW139294, BC093967, BI819763, BM546222, KF511326
NR_051955.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (10) is represented as non-coding due to the use of an alternate splice site, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL121845, AW139294, BC143472, BM546222, KF511326
NR_051956.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (11) is represented as non-coding due to the use of an alternate splice site, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL121845, AW139294, BM546222, BU526941, KF511326
NR_051957.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (12) is represented as non-coding due to the use of an alternate splice site, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL121845, AW139294, BC092480, BM546222, BX342690, KF511326
NR_051958.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (13) is represented as non-coding due to the absence of an alternate exon in the 3' coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL121845, AW139294, BM546222, BX342805, KF511326

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

63698647..63707976 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528483.2 → XP_011526785.1 ADP-ribosylation factor-related protein 1 isoform X1

See identical proteins and their annotated locations for XP_011526785.1

UniProtKB/Swiss-Prot

A0A087WY13, B7ZKX7, E1P5J9, Q13795, Q6IBQ0, V9GYH4

UniProtKB/TrEMBL

A0A384P5U7, B7ZKY8

Conserved Domains (1) summary

cd04160
Location:19 → 186

Arfrp1; Arf-related protein 1 (Arfrp1)
XM_011528482.4 → XP_011526784.1 ADP-ribosylation factor-related protein 1 isoform X1

See identical proteins and their annotated locations for XP_011526784.1

UniProtKB/Swiss-Prot

A0A087WY13, B7ZKX7, E1P5J9, Q13795, Q6IBQ0, V9GYH4

UniProtKB/TrEMBL

A0A384P5U7, B7ZKY8

Related

ENSP00000479616.1, ENST00000618838.4

Conserved Domains (1) summary

cd04160
Location:19 → 186

Arfrp1; Arf-related protein 1 (Arfrp1)
XM_047439821.1 → XP_047295777.1 ADP-ribosylation factor-related protein 1 isoform X1

UniProtKB/Swiss-Prot

A0A087WY13, B7ZKX7, E1P5J9, Q13795, Q6IBQ0, V9GYH4

UniProtKB/TrEMBL

A0A384P5U7, B7ZKY8
XM_047439823.1 → XP_047295779.1 ADP-ribosylation factor-related protein 1 isoform X2
XM_047439822.1 → XP_047295778.1 ADP-ribosylation factor-related protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

65518953..65528283 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322822.1 → XP_054178797.1 ADP-ribosylation factor-related protein 1 isoform X1

UniProtKB/Swiss-Prot

A0A087WY13, B7ZKX7, E1P5J9, Q13795, Q6IBQ0, V9GYH4

UniProtKB/TrEMBL

A0A384P5U7, B7ZKY8
XM_054322821.1 → XP_054178796.1 ADP-ribosylation factor-related protein 1 isoform X1

UniProtKB/Swiss-Prot

A0A087WY13, B7ZKX7, E1P5J9, Q13795, Q6IBQ0, V9GYH4

UniProtKB/TrEMBL

A0A384P5U7, B7ZKY8
XM_054322820.1 → XP_054178795.1 ADP-ribosylation factor-related protein 1 isoform X1

UniProtKB/Swiss-Prot

A0A087WY13, B7ZKX7, E1P5J9, Q13795, Q6IBQ0, V9GYH4

UniProtKB/TrEMBL

A0A384P5U7, B7ZKY8
XM_054322824.1 → XP_054178799.1 ADP-ribosylation factor-related protein 1 isoform X2
XM_054322823.1 → XP_054178798.1 ADP-ribosylation factor-related protein 1 isoform X2