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Gene: REM1 (RRAD and GEM like GTPase 1) Homo sapiens

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Symbol:

REM1

Name:

RRAD and GEM like GTPase 1

RGD ID:

1315248

HGNC Page

HGNC:15922

Description:

Predicted to enable GTP binding activity and calcium channel regulator activity. Predicted to act upstream of or within negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel and regulation of skeletal muscle contraction by calcium ion signaling. Predicted to be located in I band and T-tubule. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

GD:REM; GES; GTP-binding protein REM 1; GTPase GES; GTPase-regulating endothelial cell sprouting; MGC48669; rad and Gem-like GTP-binding protein 1; RAS (RAD and GEM)-like GTP-binding 1; REM

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Rem1 (rad and gem related GTP binding protein 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Rem1 (RRAD and GEM like GTPase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Rem1 (RRAD and GEM like GTPase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	REM1 (RRAD and GEM like GTPase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	REM1 (RRAD and GEM like GTPase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Rem1 (RRAD and GEM like GTPase 1)	NCBI	Ortholog
Sus scrofa (pig):	REM1 (RRAD and GEM like GTPase 1)	HGNC	Ensembl, NCBI, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	REM1 (RRAD and GEM like GTPase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Rem1 (RRAD and GEM like GTPase 1)	NCBI	Ortholog
Rattus rattus (black rat):	Rem1 (RRAD and GEM like GTPase 1)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Rem1 (rad and gem related GTP binding protein 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Rem1 (RRAD and GEM like GTPase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	rem1 (RAS (RAD and GEM)-like GTP-binding 1)	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Rgk3	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	Rgk2	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	Y52B11A.4	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	rem1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	rem1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	31,475,288 - 31,484,895 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	31,474,979 - 31,484,917 (+)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	20	30,063,091 - 30,072,698 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	29,526,766 - 29,536,369 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	20	29,526,765 - 29,536,368	NCBI
Celera	20	26,819,299 - 26,828,898 (+)	NCBI		Celera
Cytogenetic Map	20	q11.21	NCBI
HuRef	20	26,851,232 - 26,860,903 (+)	NCBI		HuRef
CHM1_1	20	29,966,984 - 29,976,601 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	33,199,537 - 33,209,122 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

long QT syndrome (IAGP)

lung cancer (IAGP)

ovarian serous cystadenocarcinoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-palmitoylglycerol (EXP)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

aflatoxin B1 (ISO)

aldehydo-D-glucose (ISO)

Aroclor 1254 (ISO)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium dichloride (ISO)

CGP 52608 (EXP)

D-glucose (ISO)

dibutyl phthalate (ISO)

dioxygen (ISO)

fenvalerate (ISO)

folic acid (EXP)

fructose (ISO)

glucose (ISO)

lipopolysaccharide (EXP)

ozone (ISO)

perfluorononanoic acid (ISO)

resveratrol (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

sodium arsenite (EXP,ISO)

Soman (ISO)

sulforaphane (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel (ISO)

regulation of skeletal muscle contraction by calcium ion signaling (ISO)

Cellular Component

I band (IEA)

plasma membrane (IBA)

T-tubule (IEA)

Molecular Function

calcium channel regulator activity (IBA)

calmodulin binding (IEA)

GTP binding (IBA,IEA)

GTPase activity (IEA)

transmembrane transporter binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Neoplasm of the lung (IAGP)

Prolonged QT interval (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10441394	PMID:10831614	PMID:11780052	PMID:12477932	PMID:14623965	PMID:15489334	PMID:16648185	PMID:17686775	PMID:21873635	PMID:22076634	PMID:22939629	PMID:29676528
PMID:36724073	PMID:41249152

Genomics

Comparative Map Data

REM1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	31,475,288 - 31,484,895 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	31,474,979 - 31,484,917 (+)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	20	30,063,091 - 30,072,698 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	29,526,766 - 29,536,369 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	20	29,526,765 - 29,536,368	NCBI
Celera	20	26,819,299 - 26,828,898 (+)	NCBI		Celera
Cytogenetic Map	20	q11.21	NCBI
HuRef	20	26,851,232 - 26,860,903 (+)	NCBI		HuRef
CHM1_1	20	29,966,984 - 29,976,601 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	33,199,537 - 33,209,122 (+)	NCBI		T2T-CHM13v2.0

Rem1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	152,468,928 - 152,477,111 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	152,468,819 - 152,487,694 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	2	152,627,008 - 152,635,191 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	152,626,951 - 152,635,198 (+)	Ensembl		GRCm38.p6 Ensembl	mm10	GRCm38
MGSCv37	2	152,452,744 - 152,460,927 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	2	152,318,449 - 152,326,632 (+)	NCBI		MGSCv36	mm8
Celera	2	158,443,011 - 158,451,149 (+)	NCBI		Celera
Cytogenetic Map	2	H1	NCBI
cM Map	2	75.41	NCBI

Rem1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	161,563,984 - 161,572,478 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	3	161,564,015 - 161,572,477 (+)	Ensembl				GRCr8
mRatBN7.2	3	141,103,722 - 141,112,206 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	141,103,766 - 141,112,203 (+)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	3	145,008,741 - 145,017,183 (+)	NCBI	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	153,592,584 - 153,601,026 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	151,332,633 - 151,341,104 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0
Dahl_SR_JrHsd	3	159,667,841 - 159,676,320 (+)	NCBI
Lyon_Normotensive	3	166,635,728 - 166,644,170 (+)	NCBI
Lyon_Hypertensive	3	158,495,591 - 158,504,033 (+)	NCBI
F344_StmMcwi	3	139,505,747 - 139,514,189 (+)	NCBI
Rnor_6.0	3	148,108,500 - 148,116,992 (+)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	148,108,539 - 148,116,991 (+)	Ensembl		Rnor_6.0 Ensembl	rn6	Rnor6.0
Rnor_5.0	3	154,513,659 - 154,522,147 (+)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	3	142,976,928 - 142,985,368 (+)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	3	139,853,348 - 139,861,792 (+)	NCBI		Celera
RGSC_v3.1	3	142,882,500 - 142,890,941 (+)	NCBI
Cytogenetic Map	3	q41	NCBI

Rem1
(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_004955422	29,429,908 - 29,443,273 (-)	Ensembl		ChiLan1.0 Ensembl
ChiLan1.0	NW_004955422	29,434,477 - 29,443,172 (-)	NCBI	ChiLan1.0	ChiLan1.0

REM1
(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	21	37,166,505 - 37,176,131 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	37,159,583 - 37,169,228 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	27,764,390 - 27,774,026 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	20	28,402,187 - 28,410,826 (+)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	28,402,181 - 28,415,090 (+)	Ensembl		PanPan1.1 Ensembl	panPan2	panpan1.1

REM1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	20,991,166 - 21,000,019 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	20,990,745 - 20,999,740 (+)	Ensembl		CanFam3.1 Ensembl	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	20,639,145 - 20,648,011 (+)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	21,677,955 - 21,686,825 (+)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	21,677,920 - 21,686,546 (+)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	20,956,311 - 20,965,190 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	21,061,548 - 21,070,421 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	21,491,764 - 21,500,627 (+)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Rem1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mIctTri1.hap1	5	175,456,113 - 175,464,846 (+)	NCBI		mIctTri1.hap1
HiC_Itri_2	NW_024408640	170,072,661 - 170,081,403 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936485	18,504,014 - 18,512,783 (+)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936485	18,504,086 - 18,512,761 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

REM1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	35,208,363 - 35,218,768 (+)	Ensembl		Sscrofa11.1 Ensembl	susScr11	Sscrofa11.1
Sscrofa11.1	17	35,208,344 - 35,218,771 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	39,851,229 - 39,854,111 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

REM1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mChlSab1.0.hap1	2	37,524,100 - 37,534,912 (+)	NCBI		mChlSab1.0.hap1
Vero_WHO_p1.0	NW_023666050	91,060,938 - 91,070,938 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0
ChlSab1.1	2	35,887,264 - 35,897,432 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	35,887,658 - 35,898,312 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM

Rem1
(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 1.0	NW_004624741	997,307 - 1,007,267 (-)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2
HetGla_female_1.0 Ensembl	NW_004624741	997,093 - 1,007,273 (-)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
Naked mole-rat maternal Ensembl	15	67,672,000 - 67,681,189 (-)	Ensembl

Rem1
(Rattus rattus - black rat)

Black Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Black Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rrattus_CSIRO_v1	5	131,957,650 - 131,965,030 (+)	NCBI	Rrattus_CSIRO_v1	Rrattus_CSIRO_v1

Variants

Variants in REM1
35 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 20q11.21(chr20:31289875-32302312)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052792]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052792]\|See cases [RCV000052792]	Chr20:31289875..32302312 [GRCh38] Chr20:29877678..30890115 [GRCh37] Chr20:29341339..30353776 [NCBI36] Chr20:20q11.21	uncertain significance
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	copy number gain	See cases [RCV000052999]	Chr20:20p12.2-q12	pathogenic
GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	copy number gain	See cases [RCV000134504]	Chr20:20q11.21	pathogenic
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	copy number gain	Nystagmus [RCV000240436]	Chr20:20p12.1-q11.21	pathogenic
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3	copy number gain	See cases [RCV000448977]	Chr20:24162775..31820857 [GRCh37] Chr20:20p11.21-q11.21	likely pathogenic
GRCh37/hg19 20q11.21(chr20:29877878-30231917)x3	copy number gain	See cases [RCV000448484]	Chr20:20q11.21	likely benign
GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	copy number gain	See cases [RCV000135358]	Chr20:20q11.21	pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000135859]	Chr20:20p13-q13.33	pathogenic
GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4	copy number gain	Global developmental delay [RCV000138183]	Chr20:20q11.21	likely pathogenic
GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3	copy number gain	See cases [RCV000141034]	Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.577G>A (p.Val193Met)	single nucleotide variant	Long QT syndrome [RCV000190183]	Chr20:31482440 [GRCh38] Chr20:30070243 [GRCh37] Chr20:20q11.21	likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	Intrauterine growth retardation [RCV000510832]	Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q11.21(chr20:29425357-30226690)x3	copy number gain	Intrauterine growth restriction [RCV000515558]	Chr20:20q11.21	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q11.21(chr20:29833535-30599771)x3	copy number gain	Gait disturbance [RCV000511585]	Chr20:20q11.21	uncertain significance
GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000512500]	Chr20:20p11.21-q11.21	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	Short stature [RCV000512450]	Chr20:20p13-q13.33	pathogenic
Single allele	duplication	Toe syndactyly [RCV000677978]	Chr20:17705775..31600738 [GRCh37] Chr20:20p12.1-q11.21	pathogenic
GRCh37/hg19 20q11.21(chr20:29929692-30070239)x3	copy number gain	not provided [RCV000741167]	Chr20:29929692..30070239 [GRCh37] Chr20:20q11.21	benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_014012.6(REM1):c.757A>G (p.Lys253Glu)	single nucleotide variant	not provided [RCV000904207]	Chr20:31484290 [GRCh38] Chr20:30072093 [GRCh37] Chr20:20q11.21	benign
GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	copy number gain	not provided [RCV001258738]	Chr20:20p11.23-q11.21	likely pathogenic
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	copy number gain	not specified [RCV002052707]	Chr20:20p11.21-q11.21	likely pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	copy number gain	not provided [RCV000849735]	Chr20:20q11.21-11.23	pathogenic
GRCh37/hg19 20q11.21(chr20:29835457-30232565)x3	copy number gain	not provided [RCV000849469]	Chr20:20q11.21	uncertain significance
GRCh37/hg19 20q11.21(chr20:29651839-30195919)x3	copy number gain	not provided [RCV001007089]	Chr20:20q11.21	likely benign
GRCh37/hg19 20q11.21(chr20:29833534-30494851)x3	copy number gain	not provided [RCV001258905]	Chr20:20q11.21	likely benign
GRCh37/hg19 20q11.21(chr20:29652122-30272637)x3	copy number gain	not provided [RCV001836495]	Chr20:20q11.21	likely benign
GRCh37/hg19 20q11.21(chr20:29833535-30195919)x3	copy number gain	not provided [RCV001834159]	Chr20:20q11.21	likely benign
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	copy number gain	not provided [RCV002474532]	Chr20:20q11.21-11.23	likely pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	copy number gain	not provided [RCV002475651]	Chr20:20q11.21-11.23	likely pathogenic
NM_014012.6(REM1):c.608G>A (p.Arg203Gln)	single nucleotide variant	not specified [RCV004129828]	Chr20:31482471 [GRCh38] Chr20:30070274 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.571A>C (p.Ile191Leu)	single nucleotide variant	not specified [RCV004161792]	Chr20:31482434 [GRCh38] Chr20:30070237 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.887C>A (p.Ala296Asp)	single nucleotide variant	not specified [RCV004201007]	Chr20:31484420 [GRCh38] Chr20:30072223 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.59C>T (p.Pro20Leu)	single nucleotide variant	not specified [RCV004136216]	Chr20:31476504 [GRCh38] Chr20:30064307 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.643G>A (p.Val215Met)	single nucleotide variant	not specified [RCV004143938]	Chr20:31484176 [GRCh38] Chr20:30071979 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.335T>C (p.Leu112Pro)	single nucleotide variant	not specified [RCV004201888]	Chr20:31476780 [GRCh38] Chr20:30064583 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.92G>C (p.Gly31Ala)	single nucleotide variant	not specified [RCV004076511]	Chr20:31476537 [GRCh38] Chr20:30064340 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.50C>T (p.Ala17Val)	single nucleotide variant	not specified [RCV004252171]	Chr20:31476495 [GRCh38] Chr20:30064298 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.301G>C (p.Ala101Pro)	single nucleotide variant	not specified [RCV004272765]	Chr20:31476746 [GRCh38] Chr20:30064549 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.461G>C (p.Gly154Ala)	single nucleotide variant	not specified [RCV006677734]	Chr20:31482324 [GRCh38] Chr20:30070127 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.706T>A (p.Phe236Ile)	single nucleotide variant	not specified [RCV004328334]	Chr20:31484239 [GRCh38] Chr20:30072042 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.7C>T (p.Leu3Phe)	single nucleotide variant	not specified [RCV005479074]	Chr20:31476452 [GRCh38] Chr20:30064255 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.341-8G>T	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006156132]	Chr20:31477820 [GRCh38] Chr20:30065623 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.310C>T (p.Gln104Ter)	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006156126]	Chr20:31476755 [GRCh38] Chr20:30064558 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.339A>G (p.Gly113=)	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006156127]	Chr20:31476784 [GRCh38] Chr20:30064587 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.340+2T>G	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006156128]	Chr20:31476787 [GRCh38] Chr20:30064590 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.341-10T>A	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006156130]	Chr20:31477818 [GRCh38] Chr20:30065621 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.341-8G>A	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006156131]	Chr20:31477820 [GRCh38] Chr20:30065623 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.341-2A>G	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006156133]	Chr20:31477826 [GRCh38] Chr20:30065629 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.626-5C>A	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006156136]	Chr20:31484154 [GRCh38] Chr20:30071957 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.*17G>C	single nucleotide variant	Lung cancer [RCV006156138]	Chr20:31484447 [GRCh38] Chr20:30072250 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.124C>G (p.Gln42Glu)	single nucleotide variant	not specified [RCV005728047]	Chr20:31476569 [GRCh38] Chr20:30064372 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.470A>G (p.Tyr157Cys)	single nucleotide variant	not specified [RCV005714546]	Chr20:31482333 [GRCh38] Chr20:30070136 [GRCh37] Chr20:20q11.21	uncertain significance
GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	copy number gain	not specified [RCV003986134]	Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.667G>C (p.Glu223Gln)	single nucleotide variant	not specified [RCV004658106]	Chr20:31484200 [GRCh38] Chr20:30072003 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.778C>T (p.Arg260Trp)	single nucleotide variant	not specified [RCV005271623]	Chr20:31484311 [GRCh38] Chr20:30072114 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.71C>T (p.Ser24Phe)	single nucleotide variant	not specified [RCV005714543]	Chr20:31476516 [GRCh38] Chr20:30064319 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.77G>A (p.Arg26Gln)	single nucleotide variant	not specified [RCV005714544]	Chr20:31476522 [GRCh38] Chr20:30064325 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.424G>A (p.Asp142Asn)	single nucleotide variant	not specified [RCV005714547]	Chr20:31482287 [GRCh38] Chr20:30070090 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.781C>A (p.Pro261Thr)	single nucleotide variant	not specified [RCV005714548]	Chr20:31484314 [GRCh38] Chr20:30072117 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.883C>G (p.Leu295Val)	single nucleotide variant	not specified [RCV005728048]	Chr20:31484416 [GRCh38] Chr20:30072219 [GRCh37] Chr20:20q11.21	uncertain significance
GRCh37/hg19 20q11.21(chr20:29652122-30518304)x3	copy number gain	not provided [RCV001827831]	Chr20:20q11.21	likely benign
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	copy number gain	not provided [RCV001829151]	Chr20:20p11.23-q11.22	likely pathogenic
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	copy number gain	not specified [RCV002052709]	Chr20:20p11.21-q11.22	pathogenic
NM_014012.6(REM1):c.524T>C (p.Leu175Pro)	single nucleotide variant	not specified [RCV004314119]	Chr20:31482387 [GRCh38] Chr20:30070190 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.415G>A (p.Glu139Lys)	single nucleotide variant	not specified [RCV004192184]	Chr20:31477902 [GRCh38] Chr20:30065705 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.404C>G (p.Thr135Ser)	single nucleotide variant	not specified [RCV004214664]	Chr20:31477891 [GRCh38] Chr20:30065694 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.226T>C (p.Ser76Pro)	single nucleotide variant	not specified [RCV004136215]	Chr20:31476671 [GRCh38] Chr20:30064474 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.134G>A (p.Arg45Gln)	single nucleotide variant	not specified [RCV004232646]	Chr20:31476579 [GRCh38] Chr20:30064382 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.859G>A (p.Ala287Thr)	single nucleotide variant	not specified [RCV004265814]	Chr20:31484392 [GRCh38] Chr20:30072195 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.341-14T>A	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006156129]	Chr20:31477814 [GRCh38] Chr20:30065617 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.624A>T (p.Glu208Asp)	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006156134]	Chr20:31482487 [GRCh38] Chr20:30070290 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.625+2T>G	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006156135]	Chr20:31482490 [GRCh38] Chr20:30070293 [GRCh37] Chr20:20q11.21	evidence_only
NM_014012.6(REM1):c.860C>G (p.Ala287Gly)	single nucleotide variant	not specified [RCV005479070]	Chr20:31484393 [GRCh38] Chr20:30072196 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.772C>G (p.Pro258Ala)	single nucleotide variant	not specified [RCV006310846]	Chr20:31484305 [GRCh38] Chr20:30072108 [GRCh37] Chr20:20q11.21	uncertain significance
GRCh38/hg38 20q11.21(chr20:31297065-33400297)x3	copy number gain	not provided [RCV006605832]	Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.763C>G (p.Pro255Ala)	single nucleotide variant	not specified [RCV005479072]	Chr20:31484296 [GRCh38] Chr20:30072099 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.892C>T (p.Leu298Phe)	single nucleotide variant	not specified [RCV005479069]	Chr20:31484425 [GRCh38] Chr20:30072228 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.893T>C (p.Leu298Pro)	single nucleotide variant	not specified [RCV006310845]	Chr20:31484426 [GRCh38] Chr20:30072229 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.478G>A (p.Val160Ile)	single nucleotide variant	not specified [RCV006310848]	Chr20:31482341 [GRCh38] Chr20:30070144 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.883C>A (p.Leu295Met)	single nucleotide variant	not specified [RCV006310847]	Chr20:31484416 [GRCh38] Chr20:30072219 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.333G>C (p.Gln111His)	single nucleotide variant	not specified [RCV005479073]	Chr20:31476778 [GRCh38] Chr20:30064581 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.539G>A (p.Arg180Gln)	single nucleotide variant	not specified [RCV004443887]	Chr20:31482402 [GRCh38] Chr20:30070205 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.763C>A (p.Pro255Thr)	single nucleotide variant	not specified [RCV004443888]	Chr20:31484296 [GRCh38] Chr20:30072099 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.346G>A (p.Val116Ile)	single nucleotide variant	not specified [RCV004443885]	Chr20:31477833 [GRCh38] Chr20:30065636 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.245G>A (p.Arg82His)	single nucleotide variant	not specified [RCV004443884]	Chr20:31476690 [GRCh38] Chr20:30064493 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.110C>T (p.Pro37Leu)	single nucleotide variant	not specified [RCV004658104]	Chr20:31476555 [GRCh38] Chr20:30064358 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.808C>A (p.Arg270Ser)	single nucleotide variant	not specified [RCV004671807]	Chr20:31484341 [GRCh38] Chr20:30072144 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.832C>A (p.Arg278Ser)	single nucleotide variant	not specified [RCV004658105]	Chr20:31484365 [GRCh38] Chr20:30072168 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.805C>T (p.Arg269Cys)	single nucleotide variant	not specified [RCV004863075]	Chr20:31484338 [GRCh38] Chr20:30072141 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.134G>C (p.Arg45Pro)	single nucleotide variant	not specified [RCV004863077]	Chr20:31476579 [GRCh38] Chr20:30064382 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.794C>G (p.Ala265Gly)	single nucleotide variant	not specified [RCV004863078]	Chr20:31484327 [GRCh38] Chr20:30072130 [GRCh37] Chr20:20q11.21	likely benign
GRCh37/hg19 20q11.21(chr20:29652122-30892344)x3	copy number gain	not provided [RCV004819649]	Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.601C>T (p.Arg201Cys)	single nucleotide variant	not specified [RCV004849960]	Chr20:31482464 [GRCh38] Chr20:30070267 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.337G>A (p.Gly113Arg)	single nucleotide variant	not specified [RCV004849961]	Chr20:31476782 [GRCh38] Chr20:30064585 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.139G>A (p.Gly47Ser)	single nucleotide variant	not specified [RCV005271622]	Chr20:31476584 [GRCh38] Chr20:30064387 [GRCh37] Chr20:20q11.21	uncertain significance
NM_014012.6(REM1):c.553G>A (p.Ala185Thr)	single nucleotide variant	not specified [RCV005271621]	Chr20:31482416 [GRCh38] Chr20:30070219 [GRCh37] Chr20:20q11.21	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	310
Count of miRNA genes:	268
Interacting mature miRNAs:	282
Transcripts:	ENST00000201979
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
628532123	GWAS2440352_H	cystatin-F measurement QTL GWAS2440352 (human)		5e-23	blood cystatin amount (VT:0010742)		20	31480995	31480996	Human

Markers in Region

D20S484

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	30,067,928 - 30,068,126	UniSTS	GRCh37
Build 36	20	29,531,589 - 29,531,787	RGD	NCBI36
Celera	20	26,824,122 - 26,824,316	RGD
Cytogenetic Map	20	q11.21	UniSTS
HuRef	20	26,856,069 - 26,856,259	UniSTS
Marshfield Genetic Map	20	49.71	RGD
Marshfield Genetic Map	20	49.71	UniSTS
TNG Radiation Hybrid Map	20	13926.0	UniSTS
Stanford-G3 RH Map	20	1606.0	UniSTS
NCBI RH Map	20	282.4	UniSTS

RH91899

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	30,072,489 - 30,072,608	UniSTS	GRCh37
Build 36	20	29,536,150 - 29,536,269	RGD	NCBI36
Celera	20	26,828,679 - 26,828,798	RGD
Cytogenetic Map	20	q11.21	UniSTS
HuRef	20	26,860,684 - 26,860,803	UniSTS

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.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2321	2788	2231	4703	1679	2135	4	591	1013	428	2082	6220	5532	7	3638	1	806	1668	1441	167	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_046939	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014012	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005260404	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528795	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323397	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF084465	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF152863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121751	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC039813	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT020078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT020079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456877	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000201979 ⟹ ENSP00000201979

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,288 - 31,484,895 (+)	Ensembl

Ensembl Acc Id:

ENST00000898142 ⟹ ENSP00000568201

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,474,979 - 31,484,917 (+)	Ensembl

Ensembl Acc Id:

ENST00000898143 ⟹ ENSP00000568202

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,484,917 (+)	Ensembl

Ensembl Acc Id:

ENST00000898144 ⟹ ENSP00000568203

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,484,917 (+)	Ensembl

Ensembl Acc Id:

ENST00000898145 ⟹ ENSP00000568204

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,484,917 (+)	Ensembl

Ensembl Acc Id:

ENST00000898146 ⟹ ENSP00000568205

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,484,917 (+)	Ensembl

Ensembl Acc Id:

ENST00000954465 ⟹ ENSP00000624524

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,484,917 (+)	Ensembl

Ensembl Acc Id:

ENST00000954466 ⟹ ENSP00000624525

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,484,917 (+)	Ensembl

Ensembl Acc Id:

ENST00000954467 ⟹ ENSP00000624526

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,484,917 (+)	Ensembl

Ensembl Acc Id:

ENST00000954468 ⟹ ENSP00000624527

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,484,917 (+)	Ensembl

Ensembl Acc Id:

ENST00000954469 ⟹ ENSP00000624528

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,484,917 (+)	Ensembl

Ensembl Acc Id:

ENST00001037344 ⟹ ENSP00000707161

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,280 - 31,484,894 (+)	Ensembl

Ensembl Acc Id:

ENST00001037345 ⟹ ENSP00000707162

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,288 - 31,484,895 (+)	Ensembl

Ensembl Acc Id:

ENST00001122577 ⟹ ENSP00000792382

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,484,917 (+)	Ensembl

Ensembl Acc Id:

ENST00001129476 ⟹ ENSP00000799281

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,477,032 (+)	Ensembl

Ensembl Acc Id:

ENST00001133848 ⟹ ENSP00000801405

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,475,228 - 31,484,917 (+)	Ensembl

RefSeq Acc Id:

NM_014012 ⟹ NP_054731

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	31,475,288 - 31,484,895 (+)	NCBI
GRCh37	20	30,063,091 - 30,072,708 (+)	NCBI
Build 36	20	29,526,766 - 29,536,369 (+)	NCBI Archive
Celera	20	26,819,299 - 26,828,898 (+)	RGD
HuRef	20	26,851,232 - 26,860,903 (+)	NCBI
CHM1_1	20	29,966,984 - 29,976,601 (+)	NCBI
T2T-CHM13v2.0	20	33,199,537 - 33,209,122 (+)	NCBI

Sequence:

show sequence

GCTCACTGAGGCGGGTGGTACAGCCTGGAGCATCCAGCCGCTGGAGCTGCGAGGGACCCTGGAC
CCCTCCCACGCCGAGGTTTATGCAGAGCCTGAGGCCAGAAAACCTAGGGACTTTCTGCCCCAAG
AAGCTGAGGCACCTCCTACTCCCATCTGAACAAGAGGGGGATCTGGAAGAAGCCATACAGCAGC
TCATCAGGACACTATAGAAAGAAGCAGCTCAAAGCAATTGGCTGACAGCCAATTCCCCCTTCTT
TCAGAAGGAAAGAAGGAAGAAGCAAACCCCCCCCTACCAAAGATGACACTCAACACCGAGCAGG
AAGCAAAGACCCCTCTGCACCGGCGAGCCAGCACCCCACTGCCCCTGTCCCCACGGGGCCACCA
GCCTGGCCGCCTGAGCACAGTGCCTTCCACTCAATCCCAGCATCCCCGGCTGGGCCAATCAGCC
TCCCTCAACCCTCCCACCCAGAAACCTTCACCTGCCCCAGATGATTGGTCTTCTGAATCCAGCG
ACTCTGAAGGCTCCTGGGAGGCTCTCTACCGTGTGGTGCTACTTGGAGATCCTGGAGTGGGGAA
GACCAGCTTGGCCAGCCTCTTTGCAGGGAAGCAAGAGAGGGACCTCCATGAACAGCTGGGAGAA
GATGTATATGAGAGGACCCTCACGGTGGATGGAGAAGACACCACACTGGTGGTCGTGGACACCT
GGGAGGCCGAGAAACTGGATAAAAGCTGGAGCCAGGAGTCATGCCTGCAGGGGGGCAGTGCCTA
TGTCATCGTATACTCCATCGCAGACCGAGGCAGCTTTGAGAGTGCCTCTGAGCTCCGCATCCAG
CTGCGGCGCACACATCAGGCAGACCATGTGCCCATCATCCTCGTGGGCAACAAGGCAGACTTGG
CCCGCTGCCGAGAAGTCTCTGTGGAAGAGGGCCGCGCCTGCGCTGTGGTGTTCGACTGTAAATT
CATCGAGACATCCGCCACGCTGCAGCACAATGTGGCCGAGCTCTTCGAGGGCGTGGTGCGCCAA
CTGCGCTTGCGCCGCCGGGACAGTGCGGCCAAGGAACCCCCAGCACCCCGACGGCCGGCCAGCC
TAGCCCAGCGCGCTCGTCGCTTCCTGGCACGCCTGACAGCCCGCAGCGCACGCCGCCGGGCACT
CAAGGCCCGCTCCAAGTCCTGCCACAATCTGGCCGTGCTCTGAAGCCCCCCGCCCTTCTGAGAG
TTGGCGGGTCACTGAGGTGCATTCTGGGCTCCAGGGACGCCACTGCGGGGCAAAGGCGCCGTTA
CCTGGAGTCTGCATCATGGGTCTTGCTTGCCTGCTGCCCTGATGGCCTGAGCATCCCCCAGATC
CAAGCCTGGGGGATCCCGGGAAAGCGATGGACAGACAGACGATGGGGCCGAAGCCCCAAGCTGG
GCACAAAGTAGTTTTTTACGTGGTGGGTGTCTTTTTGTAAAAAAATCTTCCTTGTCCCTGGGCT
CTGGCCAACCCTCAGAAACCCTCACAATAAACCAGACCAGAAGGATGTCCCATCTGAATGCCCA
GACCTCTCCATCTCGGCTCTTCCAGGCGTCTCCACCTACTGCCCTCCCATCTACACTTGACTGT
AGACTGGTCTGGCCTGCTGGCCTGGGCGTCAGGGCGCATCAATAAAGTACTTGGACCAGT

hide sequence

RefSeq Acc Id:

XM_005260404 ⟹ XP_005260461

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	31,475,288 - 31,484,895 (+)	NCBI
GRCh37	20	30,063,091 - 30,072,708 (+)	NCBI

Sequence:

show sequence

GCTCACTGAGGCGGGTGGTACAGCCTGGAGCATCCAGCCGCTGGAGCTGCGAGGGACCCTGGAC
CCCTCCCACGCCGAGGTTTATGCAGAGCCTGAGGCCAGAAAACCTAGGGACTTTCTGCCCCAAG
AAGCTGAGGCACCTCCTACTCCCATCTGAACAAGAGGGGGATCTGGAAGAAGCCATACAGCAGC
TCATCAGGACACTATAGAAAGAAGCAGCTCAAAGCAATTGGCTGACAGCCAATTCCCCCTTCTT
TCAGAAGGAAAGAAGGAAGAAGCAAACCCCCCCCTACCAAAGATGACACTCAACACCGAGCAGG
AAGCAAAGACCCCTCTGCACCGGCGAGCCAGCACCCCACTGCCCCTGTCCCCACGGGGCCACCA
GCCTGGCCGCCTGAGCACAGTGCCTTCCACTCAATCCCAGCATCCCCGGCTGGGCCAATCAGCC
TCCCTCAACCCTCCCACCCAGAAACCTTCACCTGCCCCAGATGATTGGTCTTCTGAATCCAGCG
ACTCTGAAGGCTCCTGGGAGGCTCTCTACCGTGTGGTGCTACTTGGAGATCCTGGAGTGGGGAA
GACCAGCTTGGCCAGCCTCTTTGCAGGGAAGCAAGAGAGGGACCTCCATGAACAGCTGGGAGAT
CCAGCTCTTCCCTCGGTTGCAGAAGATGTATATGAGAGGACCCTCACGGTGGATGGAGAAGACA
CCACACTGGTGGTCGTGGACACCTGGGAGGCCGAGAAACTGGATAAAAGCTGGAGCCAGGAGTC
ATGCCTGCAGGGGGGCAGTGCCTATGTCATCGTATACTCCATCGCAGACCGAGGCAGCTTTGAG
AGTGCCTCTGAGCTCCGCATCCAGCTGCGGCGCACACATCAGGCAGACCATGTGCCCATCATCC
TCGTGGGCAACAAGGCAGACTTGGCCCGCTGCCGAGAAGTCTCTGTGGAAGAGGGCCGCGCCTG
CGCTGTGGTGTTCGACTGTAAATTCATCGAGACATCCGCCACGCTGCAGCACAATGTGGCCGAG
CTCTTCGAGGGCGTGGTGCGCCAACTGCGCTTGCGCCGCCGGGACAGTGCGGCCAAGGAACCCC
CAGCACCCCGACGGCCGGCCAGCCTAGCCCAGCGCGCTCGTCGCTTCCTGGCACGCCTGACAGC
CCGCAGCGCACGCCGCCGGGCACTCAAGGCCCGCTCCAAGTCCTGCCACAATCTGGCCGTGCTC
TGAAGCCCCCCGCCCTTCTGAGAGTTGGCGGGTCACTGAGGTGCATTCTGGGCTCCAGGGACGC
CACTGCGGGGCAAAGGCGCCGTTACCTGGAGTCTGCATCATGGGTCTTGCTTGCCTGCTGCCCT
GATGGCCTGAGCATCCCCCAGATCCAAGCCTGGGGGATCCCGGGAAAGCGATGGACAGACAGAC
GATGGGGCCGAAGCCCCAAGCTGGGCACAAAGTAGTTTTTTACGTGGTGGGTGTCTTTTTGTAA
AAAAATCTTCCTTGTCCCTGGGCTCTGGCCAACCCTCAGAAACCCTCACAATAAACCAGACCAG
AAGGATGTCCCATCTGAATGCCCAGACCTCTCCATCTCGGCTCTTCCAGGCGTCTCCACCTACT
GCCCTCCCATCTACACTTGACTGTAGACTGGTCTGGCCTGCTGGCCTGGGCGTCAGGGCGCATC
AATAAAGTACTTGGACCAGT

hide sequence

RefSeq Acc Id:

XM_011528795 ⟹ XP_011527097

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	31,475,288 - 31,484,895 (+)	NCBI

Sequence:

show sequence

GCTCACTGAGGCGGGTGGTACAGCCTGGAGCATCCAGCCGCTGGAGCTGCGAGGGACCCTGGAC
CCCTCCCACGCCGAGGTTTATGCAGAGCCTGAGGCCAGAAAACCTAGGGACTTTCTGCCCCAAG
AAGCTGAGGCACCTCCTACTCCCATCTGAACAAGAGGGGGATCTGGAAGAAGCCATACAGCAGC
TCATCAGGACACTATAGAAAGAAGCAGCTCAAAGCAATTGGCTGACAGCCAATTCCCCCTTCTT
TCAGAAGGAAAGAAGGAAGAAGCAAACCCCCCCCTACCAAAGATGACACTCAACACCGAGCAGG
AAGCAAAGACCCCTCTGCACCGGCGAGCCAGCACCCCACTGCCCCTGTCCCCACGGGGCCACCA
GCCTGGCCGCCTGAGCACAGTGCCTTCCACTCAATCCCAGCATCCCCGGCTGGGCCAATCAGCC
TCCCTCAACCCTCCCACCCAGAAACCTTCACCTGCCCCAGATGATTGGTCTTCTGAATCCAGCG
ACTCTGAAGGCTCCTGGGAGGCTCTCTACCGTGTGGTGCTACTTGGAGATCCTGGAGTGGGGAA
GACCAGCTTGGCCAGCCTCTTTGCAGGGAAGCAAGAGAGGGACCTCCATGAACAGCTGGGAGCT
CTTCCCTCGGTTGCAGAAGATGTATATGAGAGGACCCTCACGGTGGATGGAGAAGACACCACAC
TGGTGGTCGTGGACACCTGGGAGGCCGAGAAACTGGATAAAAGCTGGAGCCAGGAGTCATGCCT
GCAGGGGGGCAGTGCCTATGTCATCGTATACTCCATCGCAGACCGAGGCAGCTTTGAGAGTGCC
TCTGAGCTCCGCATCCAGCTGCGGCGCACACATCAGGCAGACCATGTGCCCATCATCCTCGTGG
GCAACAAGGCAGACTTGGCCCGCTGCCGAGAAGTCTCTGTGGAAGAGGGCCGCGCCTGCGCTGT
GGTGTTCGACTGTAAATTCATCGAGACATCCGCCACGCTGCAGCACAATGTGGCCGAGCTCTTC
GAGGGCGTGGTGCGCCAACTGCGCTTGCGCCGCCGGGACAGTGCGGCCAAGGAACCCCCAGCAC
CCCGACGGCCGGCCAGCCTAGCCCAGCGCGCTCGTCGCTTCCTGGCACGCCTGACAGCCCGCAG
CGCACGCCGCCGGGCACTCAAGGCCCGCTCCAAGTCCTGCCACAATCTGGCCGTGCTCTGAAGC
CCCCCGCCCTTCTGAGAGTTGGCGGGTCACTGAGGTGCATTCTGGGCTCCAGGGACGCCACTGC
GGGGCAAAGGCGCCGTTACCTGGAGTCTGCATCATGGGTCTTGCTTGCCTGCTGCCCTGATGGC
CTGAGCATCCCCCAGATCCAAGCCTGGGGGATCCCGGGAAAGCGATGGACAGACAGACGATGGG
GCCGAAGCCCCAAGCTGGGCACAAAGTAGTTTTTTACGTGGTGGGTGTCTTTTTGTAAAAAAAT
CTTCCTTGTCCCTGGGCTCTGGCCAACCCTCAGAAACCCTCACAATAAACCAGACCAGAAGGAT
GTCCCATCTGAATGCCCAGACCTCTCCATCTCGGCTCTTCCAGGCGTCTCCACCTACTGCCCTC
CCATCTACACTTGACTGTAGACTGGTCTGGCCTGCTGGCCTGGGCGTCAGGGCGCATCAATAAA
GTACTTGGACCAGT

hide sequence

RefSeq Acc Id:

XM_017027833 ⟹ XP_016883322

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	31,475,288 - 31,484,895 (+)	NCBI

Sequence:

show sequence

CTGGCCTGAGGGGCTGCTCACTGAGGCGGGTGGTACAGCCTGGAGCATCCAGCCGCTGGAGCTG
CGAGGGACCCTGGACCCCTCCCACGCCGAGAAGGAAAGAAGGAAGAAGCAAACCCCCCCCTACC
AAAGATGACACTCAACACCGAGCAGGAAGCAAAGACCCCTCTGCACCGGCGAGCCAGCACCCCA
CTGCCCCTGTCCCCACGGGGCCACCAGCCTGGCCGCCTGAGCACAGTGCCTTCCACTCAATCCC
AGCATCCCCGGCTGGGCCAATCAGCCTCCCTCAACCCTCCCACCCAGAAACCTTCACCTGCCCC
AGATGATTGGTCTTCTGAATCCAGCGACTCTGAAGGCTCCTGGGAGGCTCTCTACCGTGTGGTG
CTACTTGGAGATCCTGGAGTGGGGAAGACCAGCTTGGCCAGCCTCTTTGCAGGGAAGCAAGAGA
GGGACCTCCATGAACAGCTGGGAGATCCAGCTCTTCCCTCGGTTGCAGAAGATGTATATGAGAG
GACCCTCACGGTGGATGGAGAAGACACCACACTGGTGGTCGTGGACACCTGGGAGGCCGAGAAA
CTGGATAAAAGCTGGAGCCAGGAGTCATGCCTGCAGGGGGGCAGTGCCTATGTCATCGTATACT
CCATCGCAGACCGAGGCAGCTTTGAGAGTGCCTCTGAGCTCCGCATCCAGCTGCGGCGCACACA
TCAGGCAGACCATGTGCCCATCATCCTCGTGGGCAACAAGGCAGACTTGGCCCGCTGCCGAGAA
GTCTCTGTGGAAGAGGGCCGCGCCTGCGCTGTGGTGTTCGACTGTAAATTCATCGAGACATCCG
CCACGCTGCAGCACAATGTGGCCGAGCTCTTCGAGGGCGTGGTGCGCCAACTGCGCTTGCGCCG
CCGGGACAGTGCGGCCAAGGAACCCCCAGCACCCCGACGGCCGGCCAGCCTAGCCCAGCGCGCT
CGTCGCTTCCTGGCACGCCTGACAGCCCGCAGCGCACGCCGCCGGGCACTCAAGGCCCGCTCCA
AGTCCTGCCACAATCTGGCCGTGCTCTGAAGCCCCCCGCCCTTCTGAGAGTTGGCGGGTCACTG
AGGTGCATTCTGGGCTCCAGGGACGCCACTGCGGGGCAAAGGCGCCGTTACCTGGAGTCTGCAT
CATGGGTCTTGCTTGCCTGCTGCCCTGATGGCCTGAGCATCCCCCAGATCCAAGCCTGGGGGAT
CCCGGGAAAGCGATGGACAGACAGACGATGGGGCCGAAGCCCCAAGCTGGGCACAAAGTAGTTT
TTTACGTGGTGGGTGTCTTTTTGTAAAAAAATCTTCCTTGTCCCTGGGCTCTGGCCAACCCTCA
GAAACCCTCACAATAAACCAGACCAGAAGGATGTCCCATCTGAATGCCCAGACCTCTCCATCTC
GGCTCTTCCAGGCGTCTCCACCTACTGCCCTCCCATCTACACTTGACTGTAGACTGGTCTGGCC
TGCTGGCCTGGGCGTCAGGGCGCATCAATAAAGTACTTGGACCAGT

hide sequence

RefSeq Acc Id:

XM_054323397 ⟹ XP_054179372

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	33,199,537 - 33,209,122 (+)	NCBI

RefSeq Acc Id:

XM_054323398 ⟹ XP_054179373

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	33,199,537 - 33,209,122 (+)	NCBI

RefSeq Acc Id:

XM_054323399 ⟹ XP_054179374

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	33,199,537 - 33,209,122 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_054731	(Get FASTA)	NCBI Sequence Viewer
	XP_005260461	(Get FASTA)	NCBI Sequence Viewer
	XP_011527097	(Get FASTA)	NCBI Sequence Viewer
	XP_016883322	(Get FASTA)	NCBI Sequence Viewer
	XP_054179372	(Get FASTA)	NCBI Sequence Viewer
	XP_054179373	(Get FASTA)	NCBI Sequence Viewer
	XP_054179374	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC33132	(Get FASTA)	NCBI Sequence Viewer
	AAF74212	(Get FASTA)	NCBI Sequence Viewer
	AAH39813	(Get FASTA)	NCBI Sequence Viewer
	AAV38881	(Get FASTA)	NCBI Sequence Viewer
	AAV38882	(Get FASTA)	NCBI Sequence Viewer
	BAG35890	(Get FASTA)	NCBI Sequence Viewer
	EAW76439	(Get FASTA)	NCBI Sequence Viewer
	EAW76440	(Get FASTA)	NCBI Sequence Viewer
	EAW76441	(Get FASTA)	NCBI Sequence Viewer
	EAW76442	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000201979
	ENSP00000201979.2
	ENSP00000568201.1
	ENSP00000568202.1
	ENSP00000568203
	ENSP00000568204.1
	ENSP00000568205.1
	ENSP00000624524
	ENSP00000624528
GenBank Protein	O75628	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_054731 ⟸ NM_014012

- UniProtKB:

Q5TZR8 (UniProtKB/Swiss-Prot), Q5TZR7 (UniProtKB/Swiss-Prot), E1P5L1 (UniProtKB/Swiss-Prot), Q9NP57 (UniProtKB/Swiss-Prot), O75628 (UniProtKB/Swiss-Prot), A0ACI8USV7 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MTLNTEQEAKTPLHRRASTPLPLSPRGHQPGRLSTVPSTQSQHPRLGQSASLNPPTQKPSPAPD
DWSSESSDSEGSWEALYRVVLLGDPGVGKTSLASLFAGKQERDLHEQLGEDVYERTLTVDGEDT
TLVVVDTWEAEKLDKSWSQESCLQGGSAYVIVYSIADRGSFESASELRIQLRRTHQADHVPIIL
VGNKADLARCREVSVEEGRACAVVFDCKFIETSATLQHNVAELFEGVVRQLRLRRRDSAAKEPP
APRRPASLAQRARRFLARLTARSARRRALKARSKSCHNLAVL

hide sequence

RefSeq Acc Id:	XP_005260461 ⟸ XM_005260404
- Peptide Label:	isoform X1
- UniProtKB:	A0ACI8USV3 (UniProtKB/TrEMBL), A0ACI8USV7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTLNTEQEAKTPLHRRASTPLPLSPRGHQPGRLSTVPSTQSQHPRLGQSASLNPPTQKPSPAPD DWSSESSDSEGSWEALYRVVLLGDPGVGKTSLASLFAGKQERDLHEQLGDPALPSVAEDVYERT LTVDGEDTTLVVVDTWEAEKLDKSWSQESCLQGGSAYVIVYSIADRGSFESASELRIQLRRTHQ ADHVPIILVGNKADLARCREVSVEEGRACAVVFDCKFIETSATLQHNVAELFEGVVRQLRLRRR DSAAKEPPAPRRPASLAQRARRFLARLTARSARRRALKARSKSCHNLAVL hide sequence

RefSeq Acc Id:	XP_011527097 ⟸ XM_011528795
- Peptide Label:	isoform X2
- UniProtKB:	A0ACI8USV7 (UniProtKB/TrEMBL), A0ACI8USX2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTLNTEQEAKTPLHRRASTPLPLSPRGHQPGRLSTVPSTQSQHPRLGQSASLNPPTQKPSPAPD DWSSESSDSEGSWEALYRVVLLGDPGVGKTSLASLFAGKQERDLHEQLGALPSVAEDVYERTLT VDGEDTTLVVVDTWEAEKLDKSWSQESCLQGGSAYVIVYSIADRGSFESASELRIQLRRTHQAD HVPIILVGNKADLARCREVSVEEGRACAVVFDCKFIETSATLQHNVAELFEGVVRQLRLRRRDS AAKEPPAPRRPASLAQRARRFLARLTARSARRRALKARSKSCHNLAVL hide sequence

RefSeq Acc Id:	XP_016883322 ⟸ XM_017027833
- Peptide Label:	isoform X1
- UniProtKB:	A0ACI8USV3 (UniProtKB/TrEMBL), A0ACI8USV7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTLNTEQEAKTPLHRRASTPLPLSPRGHQPGRLSTVPSTQSQHPRLGQSASLNPPTQKPSPAPD DWSSESSDSEGSWEALYRVVLLGDPGVGKTSLASLFAGKQERDLHEQLGDPALPSVAEDVYERT LTVDGEDTTLVVVDTWEAEKLDKSWSQESCLQGGSAYVIVYSIADRGSFESASELRIQLRRTHQ ADHVPIILVGNKADLARCREVSVEEGRACAVVFDCKFIETSATLQHNVAELFEGVVRQLRLRRR DSAAKEPPAPRRPASLAQRARRFLARLTARSARRRALKARSKSCHNLAVL hide sequence

Ensembl Acc Id:

ENSP00000201979 ⟸ ENST00000201979

RefSeq Acc Id:	XP_054179372 ⟸ XM_054323397
- Peptide Label:	isoform X1
- UniProtKB:	A0ACI8USV7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054179374 ⟸ XM_054323399
- Peptide Label:	isoform X2
- UniProtKB:	A0ACI8USV7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054179373 ⟸ XM_054323398
- Peptide Label:	isoform X1
- UniProtKB:	A0ACI8USV7 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000568205 ⟸ ENST00000898146

Ensembl Acc Id:

ENSP00000624528 ⟸ ENST00000954469

Ensembl Acc Id:

ENSP00000624525 ⟸ ENST00000954466

Ensembl Acc Id:

ENSP00000568203 ⟸ ENST00000898144

Ensembl Acc Id:

ENSP00000624526 ⟸ ENST00000954467

Ensembl Acc Id:

ENSP00000624527 ⟸ ENST00000954468

Ensembl Acc Id:

ENSP00000568201 ⟸ ENST00000898142

Ensembl Acc Id:

ENSP00000624524 ⟸ ENST00000954465

Ensembl Acc Id:

ENSP00000568202 ⟸ ENST00000898143

Ensembl Acc Id:

ENSP00000568204 ⟸ ENST00000898145

Ensembl Acc Id:

ENSP00000707161 ⟸ ENST00001037344

Ensembl Acc Id:

ENSP00000792382 ⟸ ENST00001122577

Ensembl Acc Id:

ENSP00000799281 ⟸ ENST00001129476

Ensembl Acc Id:

ENSP00000707162 ⟸ ENST00001037345

Ensembl Acc Id:

ENSP00000801405 ⟸ ENST00001133848

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O75628-F1-model_v2	AlphaFold	O75628	1-298	view protein structure

Promoters

RGD ID:

13206599

Promoter ID:

EPDNEW_H26880

Type:

initiation region

Name:

REM1_1

Description:

RRAD and GEM like GTPase 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	31,475,288 - 31,475,348	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:15922	AgrOrtholog
COSMIC	REM1	COSMIC
Ensembl Genes	ENSG00000088320	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000201979	ENTREZGENE
	ENST00000201979.3	UniProtKB/Swiss-Prot
	ENST00000898142.1	UniProtKB/Swiss-Prot
	ENST00000898143.1	UniProtKB/Swiss-Prot
	ENST00000898144	ENTREZGENE
	ENST00000898145.1	UniProtKB/Swiss-Prot
	ENST00000898146.1	UniProtKB/Swiss-Prot
	ENST00000954465	ENTREZGENE
	ENST00000954469	ENTREZGENE
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot
GTEx	ENSG00000088320	GTEx
HGNC ID	HGNC:15922	ENTREZGENE
Human Proteome Map	REM1	Human Proteome Map
InterPro	P-loop_NTPase	UniProtKB/Swiss-Prot
	RGK	UniProtKB/Swiss-Prot
	RGK_GTP-binding_reg	UniProtKB/Swiss-Prot
	Small_GTP-bd_dom	UniProtKB/Swiss-Prot
	Small_GTPase	UniProtKB/Swiss-Prot
KEGG Report	hsa:28954	UniProtKB/Swiss-Prot
NCBI Gene	28954	ENTREZGENE
OMIM	610388	OMIM
PANTHER	GTP-BINDING PROTEIN REM 1	UniProtKB/Swiss-Prot
	RAD, GEM/KIR FAMILY MEMBER 2, ISOFORM C	UniProtKB/Swiss-Prot
Pfam	Ras	UniProtKB/Swiss-Prot
PharmGKB	PA34324	PharmGKB
PIRSF	GTP-binding_GEM	UniProtKB/Swiss-Prot
PRINTS	RASTRNSFRMNG	UniProtKB/Swiss-Prot
PROSITE	RAS	UniProtKB/Swiss-Prot
SMART	RAB	UniProtKB/Swiss-Prot
	RAS	UniProtKB/Swiss-Prot
	RHO	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF52540	UniProtKB/Swiss-Prot
UniProt	A0ACI8USV3	ENTREZGENE, UniProtKB/TrEMBL
	A0ACI8USV7	ENTREZGENE, UniProtKB/TrEMBL
	A0ACI8USX2	ENTREZGENE, UniProtKB/TrEMBL
	E1P5L1	ENTREZGENE
	O75628	ENTREZGENE
	Q5TZR7	ENTREZGENE
	Q5TZR8	ENTREZGENE
	Q9NP57	ENTREZGENE
	REM1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	E1P5L1	UniProtKB/Swiss-Prot
	Q5TZR7	UniProtKB/Swiss-Prot
	Q5TZR8	UniProtKB/Swiss-Prot
	Q9NP57	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-05-10	REM1	RRAD and GEM like GTPase 1		RAS (RAD and GEM)-like GTP-binding 1	Symbol and/or name change	5135510	APPROVED

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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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar