Arfrp1 MGI Mouse Gene Detail - MGI:1923938

Symbol

Arfrp1
Name

ARF related protein 1
Synonyms

1500006I01Rik, MGC:6837

Feature Type

protein coding gene
IDs

MGI:1923938
NCBI Gene: 76688
Alliance

genome feature page
Transcription Start Sites

1 TSS
Candidate for QTL

1 QTL

Sequence Map

Chr2:180999483-181007197 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 103.63 cM
Mapping Data

3 experiments

SNPs within 2kb

161 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923938	protein coding gene	Chr2:180999483-181007197 (-)
129S1/SvImJ	ENSMUSG00200002388	protein coding gene	Chr2:177022039-177029753 (-)
A/J	ENSMUSG00195001091	protein coding gene	Chr2:177254061-177261774 (-)
AKR/J	ENSMUSG00220000071	protein coding gene	Chr2:174932694-174940407 (-)
BALB/cJ	ENSMUSG00180000603	protein coding gene	Chr2:175061333-175069049 (-)
C3H/HeJ	ENSMUSG00175004367	protein coding gene	Chr2:176214623-176222342 (-)
C57BL/6NJ	ENSMUSG00215002491	protein coding gene	Chr2:175161533-175169247 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024805	protein coding gene	Chr2:170892328-170899751 (-)
CAST/EiJ	ENSTCUG00005000790	protein coding gene	Chr2:174512222-174519727 (-)
CBA/J	ENSMUSG00210001198	protein coding gene	Chr2:175539887-175547601 (-)
DBA/2J	ENSMUSG00185020131	protein coding gene	Chr2:176774073-176781786 (-)
FVB/NJ	ENSMUSG00205002314	protein coding gene	Chr2:175591658-175599372 (-)
JF1/MsJ	ENSUMUG00000025134	protein coding gene	Chr2:177966786-177974303 (-)
LP/J	ENSMUSG00230022605	protein coding gene	Chr2:178672973-178680687 (-)
NOD/ShiLtJ	ENSMUSG00190015932	protein coding gene	Chr2:175081452-175089166 (-)
NZO/HlLtJ	ENSMUSG00225006564	protein coding gene	Chr2:186755341-186763054 (-)
PWK/PhJ	ENSLUMG00010000256	protein coding gene	Chr2:175386375-175393899 (-)
SPRET/EiJ	ENSMSPG00010004039	protein coding gene	Chr2:177861210-177868871 (-)
WSB/EiJ	ENSIUOG00005000122	protein coding gene	Chr2:175100555-175108070 (-)

Human Ortholog

ARFRP1, ARF related protein 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ARFRP1, ARF related protein 1
Synonyms

ARL18, ARP, Arp1
Links

HGNC:662

NCBI Gene ID: 10139

UniProt: Q13795
Chr Location

20q13.33; chr20:63698622-63708662 (-) GRCh38

MGI Vertebrate Homology

Arfrp1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ARFRP1
Gene Tree

Arfrp1

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Phenotype Summary

6 phenotypes from 2 alleles in 2 genetic backgrounds
15 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

13
Endonuclease-mediated

1
Gene trapped

8
Targeted

4
Find Mice (IMSR)

18 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in embryonic lethality and abnormal development of embryonic tissues. Mutant embryos display an abnormal egg cylinder and lack the ectoplacental and exocoelomic cavities.

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All GO Annotations

24
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

638
Tissues

23
cDNA Data

14
Literature Summary

3

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase arfrp1

ZFIN arfrp1

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All Sequences

76
RefSeq

10
UniProt

5
CCDS

CCDS17209.1, CCDS50853.1

Ensembl

ENSMUSG00000038671 (Evidence)
NCBI Gene

76688

			Length	Strain/Species	Flank
genomic	76688	NCBI Gene Model \| MGI Sequence Detail	7715	C57BL/6J	± kb
transcript	NM_001165991	RefSeq \| MGI Sequence Detail	2596	C57BL/6
polypeptide	Q8BXL7	UniProt \| EBI \| MGI Sequence Detail	201	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004214 ADP-ribosylation factor-related protein 1

(term hierarchy)
InterPro Domains

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR006689 Small GTPase superfamily, ARF/SAR type

IPR024156 Small GTPase superfamily, ARF type

IPR005225 Small GTP-binding domain

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All nucleic 17

Genomic 1

cDNA 15

Primer pair 1

Antibodies 1

Microarray probesets 7

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MGI:2138981

Summaries

All 46

Developmental Gene Expression 3

Gene Ontology 8

Phenotypes 15
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:337689 Zhang Z, et al., Distinct changes in endosomal composition promote NLRP3 inflammasome activation. Nat Immunol. 2023 Jan;24(1):30-41

TSS for Arfrp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr28206	Chr2:181007099-181007164 (-)	65 bp

Arfrp1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Tlq1	Chr2, 100.95 cM		J:91351	Rtel1 is a candidate gene for a previously mapped telomere length QTL named Tlq1 positioned at the distal end of mouse Chromosome 2. Rtel1/Tlq1 is located approximately 2 cM from the telomere at around 107 cM. An Rtel1 EST and cDNAs from Stmn3 and Arfrp1 hybrizided to BAC clone RP23-60M5. The order of genes at this locus is as follows: centromere - Stmn3 - Rtel1 - Arfrp1 - telomere

*cM position of peak correlated region/marker

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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