Reep1 MGI Mouse Gene Detail - MGI:1098827 - receptor accessory protein 1

Symbol

Reep1
Name

receptor accessory protein 1
Synonyms

D6Ertd253e

Feature Type

protein coding gene
IDs

MGI:1098827
NCBI Gene: 52250
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr6:71684545-71787694 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 32.20 cM
Mapping Data

3 experiments

SNPs within 2kb

3215 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1098827	protein coding gene	Chr6:71684413-71787694 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030862	protein coding gene	Chr6:72202737-72313892 (+)
A/J	MGP_AJ_G0030832	protein coding gene	Chr6:69426771-69530480 (+)
AKR/J	MGP_AKRJ_G0030761	protein coding gene	Chr6:71434087-71545643 (+)
BALB/cJ	MGP_BALBcJ_G0030843	protein coding gene	Chr6:69455202-69560065 (+)
C3H/HeJ	MGP_C3HHeJ_G0030869	protein coding gene	Chr6:112703025-112811684 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031301	protein coding gene	Chr6:74114792-74220986 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028490	protein coding gene	Chr6:68600509-68705953 (+)
CAST/EiJ	MGP_CASTEiJ_G0029951	protein coding gene	Chr6:71293829-71413032 (+)
CBA/J	MGP_CBAJ_G0030530	protein coding gene	Chr6:77070469-77193947 (+)
DBA/2J	MGP_DBA2J_G0030682	protein coding gene	Chr6:68808106-68913067 (+)
FVB/NJ	MGP_FVBNJ_G0030635	protein coding gene	Chr6:68168633-68294245 (+)
LP/J	MGP_LPJ_G0030761	protein coding gene	Chr6:72125650-72233869 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030670	protein coding gene	Chr6:80544518-80656325 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031327	protein coding gene	Chr6:71264572-71372830 (+)
PWK/PhJ	MGP_PWKPhJ_G0029667	protein coding gene	Chr6:67699491-67808888 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029495	protein coding gene	Chr6:69983502-70092255 (+)
WSB/EiJ	MGP_WSBEiJ_G0030033	protein coding gene	Chr6:71617558-71729236 (+)

Human Ortholog

REEP1, receptor accessory protein 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

REEP1, receptor accessory protein 1
Synonyms

C2orf23, DSMA6, HMN5B, HMND12, HMNR6, SPG31, Yip2a
Links

HGNC:25786

NCBI Gene ID: 65055

neXtProt AC: NX_Q9H902

UniProt: Q9H902
Chr Location

2p11.2; chr2:86213993-86338083 (-) GRCh38

MGI Vertebrate Homology

Reep1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: REEP1
Gene Tree

Reep1

Diseases

1 with Reep1 mouse models; 3 with human REEP1 associations

Human Disease

Mouse Models

hereditary spastic paraplegia 31

IDs

View 1 model

autosomal dominant distal hereditary motor neuronopathy 12

IDs

autosomal recessive distal hereditary motor neuronopathy 6

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

24 phenotypes from 2 alleles in 2 genetic backgrounds
20 phenotypes from multigenic genotypes
3 images
10 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

7
Gene trapped

5
Spontaneous

1
Targeted

1
Genomic Mutations

1 involving Reep1
Incidental Mutations

APF
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit spastic paraplegia in aged mice with reduced ER complexity in cortical motor neurons.

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All GO Annotations

24
GO References

6

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

905
Tissues

51
cDNA Data

94
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase reep1

ZFIN reep1

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All Sequences

49
RefSeq

5
UniProt

3
CCDS

CCDS51807.1

Ensembl

ENSMUSG00000052852 (Evidence)
NCBI Gene

52250

			Length	Strain/Species	Flank
genomic	ENSMUSG00000052852	Ensembl Gene Model \| MGI Sequence Detail	103150	C57BL/6J	± kb
transcript	ENSMUST00000212792	Ensembl \| MGI Sequence Detail	3339	Not Applicable
polypeptide	ENSMUSP00000148341	Ensembl \| MGI Sequence Detail	284	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000013863 receptor expression-enhancing protein 1

(term hierarchy)
InterPro Domains

IPR004345 TB2/DP1/HVA22-related protein

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All nucleic 96

cDNA 94

Primer pair 2

Microarray probesets 7

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MGI:2141713, MGI:2141789

Summaries

All 40

Developmental Gene Expression 4

Diseases 2

Gene Ontology 6

Phenotypes 10
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:334532 Zhu PP, et al., Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons. Hum Mol Genet. 2022 Aug 23;31(16):2779-2795

TSS for Reep1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr57038	Chr6:71684810-71684821 (+)	271 bp
Tssr57039	Chr6:71684845-71684862 (+)	309 bp
Tssr57040	Chr6:71684873-71684891 (+)	337 bp
Tssr57041	Chr6:71699811-71699813 (+)	15,267 bp
Tssr57042	Chr6:71706842-71706846 (+)	22,299 bp
Tssr57043	Chr6:71786394-71786418 (+)	101,861 bp

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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