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Gene: Rer1 (retention in endoplasmic reticulum sorting receptor 1) Ictidomys tridecemlineatus

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Symbol:

Rer1

Name:

retention in endoplasmic reticulum sorting receptor 1

RGD ID:

12588487

Description:

ENCODES a protein that exhibits acetylcholine receptor binding (inferred); INVOLVED IN neuromuscular junction development (ortholog); positive regulation of protein localization to plasma membrane (ortholog); skeletal muscle acetylcholine-gated channel clustering (ortholog); ASSOCIATED WITH chromosome 1p36 deletion syndrome (ortholog); dilated cardiomyopathy 1LL (ortholog); Ehlers-Danlos syndrome spondylodysplastic type 2 (ortholog); FOUND IN cell surface (inferred); cytoplasm (inferred); endoplasmic reticulum (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

RER1 retention in endoplasmic reticulum 1 homolog; retention in endoplasmic reticulum sorting receptor 1, transcript variant X1; retention in endoplasmic reticulum sorting receptor 1, transcript variant X2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	28,302,503 - 28,313,100 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936737	1,152,937 - 1,164,616 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936737	1,152,937 - 1,164,817 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

chromosome 1p36 deletion syndrome (ISO)

dilated cardiomyopathy 1LL (ISO)

Ehlers-Danlos syndrome spondylodysplastic type 2 (ISO)

Goldberg-Shprintzen syndrome (ISO)

idiopathic generalized epilepsy (ISO)

immunodeficiency 16 (ISO)

immunodeficiency 38 (ISO)

Joubert syndrome 25 (ISO)

Neurodevelopmental Disorders (ISO)

peroxisome biogenesis disorder 1A (ISO)

peroxisome biogenesis disorder 6A (ISO)

Peroxisome Biogenesis Disorder, Complementation Group 7 (ISO)

Shprintzen-Goldberg Craniosynostosis (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

neuromuscular junction development (IEA,ISO)

positive regulation of protein localization to plasma membrane (IEA,ISO)

protein retention in ER lumen (IEA)

retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (IEA)

skeletal muscle acetylcholine-gated channel clustering (IEA,ISO)

Cellular Component

cell surface (IEA)

cytoplasm (IEA)

endoplasmic reticulum (IEA)

endoplasmic reticulum-Golgi intermediate compartment (IEA)

Golgi apparatus (IEA)

Golgi membrane (IEA)

intracellular membrane-bounded organelle (IEA)

membrane (IEA)

plasma membrane (IEA)

Molecular Function

acetylcholine receptor binding (IEA)

protein binding (ISO)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

Rer1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	28,302,503 - 28,313,100 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936737	1,152,937 - 1,164,616 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936737	1,152,937 - 1,164,817 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RER1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	2,391,841 - 2,405,436 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	2,391,775 - 2,405,442 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	2,323,280 - 2,336,875 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	2,313,074 - 2,326,734 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	2,355,490 - 2,367,350	NCBI
Celera	1	249,823 - 263,535 (-)	NCBI		Celera
Cytogenetic Map	1	p36.32	NCBI
HuRef	1	1,601,775 - 1,615,592 (+)	NCBI		HuRef
CHM1_1	1	2,310,240 - 2,323,952 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	1,831,110 - 1,845,026 (+)	NCBI		T2T-CHM13v2.0

Rer1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	155,158,566 - 155,170,840 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	155,158,567 - 155,170,839 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	155,074,109 - 155,086,371 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	155,074,110 - 155,086,382 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	154,448,221 - 154,460,406 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	153,917,912 - 153,930,097 (-)	NCBI		MGSCv36	mm8
Celera	4	157,346,554 - 157,358,733 (-)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	86.17	NCBI

Rer1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	170,916,643 - 170,929,073 (-)	NCBI		GRCr8
mRatBN7.2	5	165,634,567 - 165,646,643 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	165,634,300 - 165,646,750 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	168,340,526 - 168,352,596 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	170,161,940 - 170,174,010 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	170,124,469 - 170,136,539 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	172,476,746 - 172,488,822 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	172,476,747 - 172,488,822 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	175,932,625 - 175,944,701 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	171,875,696 - 171,887,772 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	171,885,922 - 171,898,345 (-)	NCBI
Celera	5	163,840,333 - 163,852,410 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Rer1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955486	8,791,457 - 8,802,691 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955486	8,791,457 - 8,802,691 (-)	NCBI	ChiLan1.0	ChiLan1.0

RER1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	225,849,713 - 225,865,100 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	224,512,336 - 224,526,048 (-)	NCBI		NHGRI_mPanPan1
PanPan1.1 Ensembl	1	2,257,091 - 2,271,311 (+)	Ensembl	panpan1.1		panPan2

RER1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	57,278,349 - 57,288,564 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	57,278,371 - 57,285,870 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	57,354,837 - 57,365,141 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	57,480,563 - 57,490,874 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	57,480,581 - 57,490,851 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	57,471,831 - 57,482,138 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	57,364,184 - 57,374,471 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	57,753,820 - 57,764,123 (+)	NCBI		UU_Cfam_GSD_1.0

RER1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	64,301,199 - 64,311,783 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	64,301,139 - 64,311,526 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	58,710,593 - 58,721,038 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RER1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	129,155,902 - 129,169,648 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	129,156,067 - 129,169,597 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	33,500,564 - 33,514,453 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rer1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624818	7,605,105 - 7,616,282 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624818	7,604,854 - 7,616,457 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_013364736	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_013364737	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040287790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010000117	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSSTOT00000007412 ⟹ ENSSTOP00000006624

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936737	1,152,937 - 1,164,616 (-)	Ensembl

RefSeq Acc Id:

XM_013364736 ⟹ XP_013220190

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024405058	28,302,503 - 28,313,100 (+)	NCBI
SpeTri2.0	NW_004936737	1,152,937 - 1,164,817 (-)	NCBI

Sequence:

show sequence

TGACCACTTCCCCAGTACCTGTTGGCCCGCGGCGGAAGACGGTGCTGAAGGGGCTCAGGGAAGC
CCTGTGTCGGCCAGGAGCGTTTGGCGGCAGTGGTTCCGGCTGAGCGTGAGGGCTTGAGTCGTGC
AGGATCTTAGAGAACATTCAGTGGCACTTCCTAATTTTCAGCTCTGGGCACTGTGCTCTTGGGT
CCTGGAAATGTATACATGCTAAAGACTGGACACTGTGGCCTGTTCAGCTGCAAGCCTGTGTTTA
AGTTGTGATTAGAAAGCTGTCCACTCGAGACCTAGGGACTCATCAGGTGGCTTGTTGACTTCCA
CTTCAGAAGTTACAGAATGTCTGAAGGGGACAGTGTTGGAGATTCAGTCCATGGGAAGCCATCA
GTGGTGTACAGATTTTTCACACGACTCGGACAGATTTATCAGTCCTGGCTGGACAAGTCCACAC
CTTACACGGCTGTGCGGTGGGTGGTGACACTGGGCTTGAGCTTTGTCTACATGATTAGAGTTTA
CCTGCTACAGGGTTGGTACATCGTGACCTACGCCCTGGGAATCTACCATCTAAATCTTTTCATA
GCGTTCCTTTCTCCCAAAGTGGACCCTTCCTTAATGGAAGACTCAGATGATGGCCCTTCCTTAC
CAACCAAACAGAATGAGGAATTTCGCCCCTTCATTCGAAGGCTTCCAGAGTTTAAATTTTGGCA
TGCGGCCACGAAGGGCATCCTGGTGGCAATGGTCTGCACCTTCTTCGAGGCTTTCAATGTCCCG
GTGTTCTGGCCGATCCTGGTGATGTACTTCATCATGCTTTTCTGTATCACAATGAAGAGGCAAA
TAAAGCACATGATTAAATACCGGTACATACCATTCACACATGGAAAGAGGAGATACAAAGGGAA
GGAGGACGTGGGCAAGACGTTTGCTAGTTAGAAGCTGGACTGAATCTGGCACACGTGTTCAAGA
CGGTTTTGAGCCATTGTAACAATGCCTTTTTCTTCACATAAAGTAGTTGATTACAAGGGATTTG
AATTTTCTTTTTAAAAAGGAGCCTCAATGATTTGTAACTGAAATACAGGTTCTTGAAGAAACTG
GCATTTAAACCAGATTGCATTGATTTCTATTTCAGTGGTGTCCACATGTTTCAAAGGACGGCAT
TGTATTAACCGCAGGCTCAAGAGGCCAGGCGGGCAGCAGCCGCAGGAGCAAGGGGTGGGAGGGA
GGACAAGAGCGAGGCTACAAGAGGAGCTGGCTGCTCTGCGTGGGGCTGTTTCCCAGCCACGGTG
AGGCCGGAGGGACCATGCCAACCCGATTCCTGCGTGCCAGAGAACGTAATGCTGCACAGGTGAT
TGATTTCAAGTAACTCTGGGGTTCTCATGCCAGTTTCCAAACCTCACCTCACTGGAGGTGTTTT
CAAGCTGGCCTCTATCTCGATGACTCAAAACTTTGTTCTTAACTACCATGATTGCTTCTGAGGG
CCTGGAATTATAAACATATTATATTTTAA

hide sequence

RefSeq Acc Id:

XM_040287790 ⟹ XP_040143724

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024405058	28,302,503 - 28,313,100 (+)	NCBI

Protein Sequences


Protein RefSeqs	XP_013220190	(Get FASTA)	NCBI Sequence Viewer
	XP_040143724	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000006624.2
GenBank Protein	KAG3281950	(Get FASTA)	NCBI Sequence Viewer
	KAG3281951	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_013220190 ⟸ XM_013364736
- UniProtKB:	I3M9N9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSEGDSVGDSVHGKPSVVYRFFTRLGQIYQSWLDKSTPYTAVRWVVTLGLSFVYMIRVYLLQGW YIVTYALGIYHLNLFIAFLSPKVDPSLMEDSDDGPSLPTKQNEEFRPFIRRLPEFKFWHAATKG ILVAMVCTFFEAFNVPVFWPILVMYFIMLFCITMKRQIKHMIKYRYIPFTHGKRRYKGKEDVGK TFAS hide sequence

RefSeq Acc Id:	XP_040143724 ⟸ XM_040287790
- UniProtKB:	I3M9N9 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSSTOP00000006624 ⟸ ENSSTOT00000007412

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000007413	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000007412.3	UniProtKB/TrEMBL
InterPro	Rer1	UniProtKB/TrEMBL
NCBI Gene	Rer1	ENTREZGENE
PANTHER	PROTEIN RER1	UniProtKB/TrEMBL
	PTHR10743	UniProtKB/TrEMBL
Pfam	Rer1	UniProtKB/TrEMBL
PIRSF	AtER_Rer1p	UniProtKB/TrEMBL
UniProt	I3M9N9	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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