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ARFRP1 ADP ribosylation factor related protein 1 [ Homo sapiens (human) ]

Gene ID: 10139, updated on 21-Dec-2019

Summary

Official Symbol
ARFRP1provided by HGNC
Official Full Name
ADP ribosylation factor related protein 1provided by HGNC
Primary source
HGNC:HGNC:662
See related
Ensembl:ENSG00000101246 MIM:604699
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

Genomic context

See ARFRP1 in Genome Data Viewer
Location:
20q13.33
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (63698642..63708013, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62329995..62339365, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RTEL1-TNFRSF6B readthrough (NMD candidate) Neighboring gene uncharacterized LOC105372726 Neighboring gene stathmin 3 Neighboring gene regulator of telomere elongation helicase 1 Neighboring gene TNF receptor superfamily member 6b Neighboring gene zinc finger CCCH-type and G-patch domain containing Neighboring gene LIME1 eExon liver enhancer Neighboring gene SLC2A4 regulator Neighboring gene Lck interacting transmembrane adaptor 1 Neighboring gene zinc finger and BTB domain containing 46

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi to plasma membrane protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi to plasma membrane protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
gastrulation IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to Golgi apparatus IMP
Inferred from Mutant Phenotype
more info
PubMed 
retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ADP-ribosylation factor-related protein 1
Names
ARF-related protein 1
SCG10 like-protein
epididymis secretory sperm binding protein
helicase-like protein NHL
NP_001128230.1
NP_001254473.1
NP_001254474.1
NP_001254475.1
NP_001254476.1
NP_001254477.1
NP_001254478.1
NP_003215.1
XP_011526784.1
XP_011526785.1
XP_016883065.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001134758.4NP_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/Swiss-Prot
    Q13795
    Conserved Domains (1) summary
    cd04160
    Location:19173
    Arfrp1; Arf-related protein 1 (Arfrp1)
  2. NM_001267544.3NP_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:17113
    Gem1; GTPase SAR1 family domain [General function prediction only]
    cl21455
    Location:19116
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_001267545.2NP_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:19120
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  4. NM_001267546.3NP_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:1139
    Arfrp1; Arf-related protein 1 (Arfrp1)
  5. NM_001267547.3NP_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
    Q13795
    UniProtKB/TrEMBL
    B7ZKY8
    Related
    ENSP00000483486.1, ENST00000622789.5
    Conserved Domains (1) summary
    cd04160
    Location:19186
    Arfrp1; Arf-related protein 1 (Arfrp1)
  6. NM_001267548.2NP_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
    Q13795
    Related
    ENSP00000479940.1, ENST00000619493.4
    Conserved Domains (1) summary
    cd04160
    Location:19186
    Arfrp1; Arf-related protein 1 (Arfrp1)
  7. NM_001267549.3NP_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/Swiss-Prot
    Q13795
    Related
    ENSP00000479058.1, ENST00000612157.4
    Conserved Domains (1) summary
    cd04160
    Location:19173
    Arfrp1; Arf-related protein 1 (Arfrp1)
  8. NM_003224.6NP_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
    Q13795
    Conserved Domains (1) summary
    cd04160
    Location:19186
    Arfrp1; Arf-related protein 1 (Arfrp1)

RNA

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    63698642..63708013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528482.3XP_011526784.1  ADP-ribosylation factor-related protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011526784.1

    UniProtKB/Swiss-Prot
    Q13795
    Related
    ENSP00000479616.1, ENST00000618838.4
    Conserved Domains (1) summary
    cd04160
    Location:19186
    Arfrp1; Arf-related protein 1 (Arfrp1)
  2. XM_011528483.1XP_011526785.1  ADP-ribosylation factor-related protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011526785.1

    UniProtKB/Swiss-Prot
    Q13795
    Conserved Domains (1) summary
    cd04160
    Location:19186
    Arfrp1; Arf-related protein 1 (Arfrp1)
  3. XM_017027576.1XP_016883065.1  ADP-ribosylation factor-related protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q13795
    Conserved Domains (1) summary
    cd04160
    Location:19186
    Arfrp1; Arf-related protein 1 (Arfrp1)

RNA

  1. XR_001754110.1 RNA Sequence

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