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Gene: NLE1 (notchless homolog 1) Homo sapiens

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Symbol:

NLE1

Name:

notchless homolog 1

RGD ID:

1604007

HGNC Page

HGNC:19889

Description:

Predicted to be involved in regulation of Notch signaling pathway. Predicted to act upstream of or within several processes, including chordate embryonic development; hematopoietic stem cell homeostasis; and positive regulation of canonical Wnt signaling pathway. Located in nucleolus and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ10458; HUSSY7; Nle; Notchless gene homolog; notchless homolog 1 (Drosophila); notchless protein homolog 1; Rsa4

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):	Nle1 (notchless homolog 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Nle1 (notchless homolog 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Nle1 (notchless homolog 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NLE1 (notchless homolog 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	NLE1 (notchless homolog 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Nle1 (notchless homolog 1)	NCBI	Ortholog
Sus scrofa (pig):	NLE1 (notchless homolog 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	NLE1 (notchless homolog 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Nle1 (notchless homolog 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Nle1 (notchless homolog 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Nle1 (notchless homolog 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	nle1 (notchless homolog 1 (Drosophila))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	W07E6.2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Nle	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	RSA4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	nle1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	nle1.S	Alliance	DIOPT (Xenbase)

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	17	35,128,730 - 35,142,303 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	35,128,730 - 35,142,304 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	33,455,749 - 33,469,322 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	30,482,481 - 30,493,435 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	30,368,560 - 30,379,514 (-)	NCBI		Celera
Cytogenetic Map	17	q12	NCBI
HuRef	17	29,643,049 - 29,654,013 (-)	NCBI		HuRef
CHM1_1	17	33,522,727 - 33,533,680 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	36,076,643 - 36,090,215 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Neurodevelopmental Disorders (IAGP)

peroxisome biogenesis disorder 3A (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (ISO)

4-amino-2,6-dinitrotoluene (ISO)

acrylamide (ISO)

actinomycin D (EXP)

all-trans-retinoic acid (EXP)

amphetamine (ISO)

aristolochic acid A (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chromium(6+) (ISO)

cisplatin (EXP)

clobetasol (ISO)

clofibric acid (ISO)

cyclosporin A (EXP,ISO)

DDE (EXP)

dexamethasone (EXP)

Dibutyl phosphate (EXP)

dioxygen (ISO)

doxorubicin (EXP,ISO)

endosulfan (ISO)

enzalutamide (EXP)

ethanol (ISO)

flutamide (ISO)

folic acid (ISO)

furan (ISO)

gentamycin (ISO)

indometacin (EXP)

inulin (ISO)

ivermectin (EXP)

N-nitrosodiethylamine (ISO)

Nutlin-3 (EXP)

paracetamol (ISO)

paraquat (ISO)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (EXP)

pirinixic acid (ISO)

piroxicam (EXP)

potassium chromate (EXP)

pregnenolone 16alpha-carbonitrile (ISO)

quercetin (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

temozolomide (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

Triptolide (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

hematopoietic stem cell homeostasis (IEA,ISO)

inner cell mass cell differentiation (IEA,ISO)

kidney development (IEA,ISO)

mitotic cell cycle (IEA,ISO)

negative regulation of mitotic cell cycle (IEA,ISO)

Notch signaling pathway (IEA,ISO)

positive regulation of canonical Wnt signaling pathway (IEA,ISO)

regulation of Notch signaling pathway (IBA)

ribosomal large subunit biogenesis (IEA,ISO)

skeletal system morphogenesis (IEA,ISO)

somitogenesis (IEA,ISO)

Cellular Component

nucleolus (IBA,IDA,IEA)

nucleoplasm (IDA)

nucleus (IEA)

Molecular Function

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11124703	PMID:12429849	PMID:12477932	PMID:14702039	PMID:15342556	PMID:15489334	PMID:16189514	PMID:17041588	PMID:18029348	PMID:21145461	PMID:21873635	PMID:22586326
PMID:24711643	PMID:25693804	PMID:26186194	PMID:26344197	PMID:26472760	PMID:26496610	PMID:26601951	PMID:28298427	PMID:28514442	PMID:29117863	PMID:29395067	PMID:29467282
PMID:29509190	PMID:29955894	PMID:31091453	PMID:32513696	PMID:33226137	PMID:33545068	PMID:33854235	PMID:33957083	PMID:33961781	PMID:34349018	PMID:34373451	PMID:35256949
PMID:35509820	PMID:35575683	PMID:35748872	PMID:35915203	PMID:36114006	PMID:36215168	PMID:36219392	PMID:36424410	PMID:36526897	PMID:36543142	PMID:36597993	PMID:36912080
PMID:37689310	PMID:37827155

Genomics

Comparative Map Data

NLE1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	35,128,730 - 35,142,303 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	35,128,730 - 35,142,304 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	33,455,749 - 33,469,322 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	30,482,481 - 30,493,435 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	30,368,560 - 30,379,514 (-)	NCBI		Celera
Cytogenetic Map	17	q12	NCBI
HuRef	17	29,643,049 - 29,654,013 (-)	NCBI		HuRef
CHM1_1	17	33,522,727 - 33,533,680 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	36,076,643 - 36,090,215 (-)	NCBI		T2T-CHM13v2.0

Nle1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	82,791,594 - 82,799,272 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	82,791,594 - 82,799,237 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	82,900,768 - 82,908,446 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	82,900,768 - 82,908,411 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	82,714,270 - 82,721,897 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	82,716,966 - 82,724,566 (-)	NCBI		MGSCv36	mm8
Celera	11	92,519,883 - 92,532,416 (-)	NCBI		Celera
Cytogenetic Map	11	C	NCBI
cM Map	11	50.3	NCBI

Nle1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	68,331,609 - 68,342,562 (-)	NCBI		GRCr8
mRatBN7.2	10	67,834,059 - 67,844,771 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	67,834,062 - 67,842,658 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	72,454,101 - 72,462,678 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	71,959,482 - 71,968,055 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	67,423,574 - 67,432,130 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	70,250,959 - 70,261,880 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	70,250,959 - 70,259,553 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	69,882,122 - 69,893,084 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	71,117,125 - 71,125,696 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	71,130,748 - 71,139,322 (-)	NCBI
Celera	10	66,778,297 - 66,786,868 (-)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

Nle1
(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_004955481	9,821,329 - 9,830,555 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955481	9,821,329 - 9,830,350 (-)	NCBI	ChiLan1.0	ChiLan1.0

NLE1
(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	19	29,323,620 - 29,334,140 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	31,204,592 - 31,215,112 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	21,643,865 - 21,654,169 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	21,935,800 - 21,946,049 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	21,935,800 - 21,946,049 (+)	Ensembl	panpan1.1		panPan2

NLE1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	38,222,083 - 38,230,819 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	38,222,051 - 38,365,621 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	37,445,639 - 37,454,795 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	39,033,586 - 39,042,748 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	39,033,539 - 39,042,397 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	37,817,157 - 37,826,312 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	38,102,689 - 38,111,830 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	38,190,191 - 38,199,364 (+)	NCBI		UU_Cfam_GSD_1.0

Nle1
(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_024405602	37,223,243 - 37,231,849 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936538	101,047 - 109,873 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936538	101,245 - 109,796 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NLE1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	40,035,547 - 40,044,397 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	40,035,518 - 40,044,395 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	41,546,660 - 41,555,535 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NLE1
(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	16	28,635,054 - 28,645,527 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	28,634,318 - 28,645,355 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666075	1,341,768 - 1,352,943 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nle1
(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_004624875	2,998,006 - 3,006,303 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624875	2,997,648 - 3,006,345 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NLE1
56 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_017559.2(FNDC8):c.285G>A (p.Leu95=)	single nucleotide variant	Malignant melanoma [RCV000071404]	Chr17:35127117 [GRCh38] Chr17:33454136 [GRCh37] Chr17:30478249 [NCBI36] Chr17:17q12	not provided
GRCh38/hg38 17q12(chr17:35129859-35767049)x3	copy number gain	See cases [RCV000136983]	Chr17:35129859..35767049 [GRCh38] Chr17:33456878..34094068 [GRCh37] Chr17:30480991..31118181 [NCBI36] Chr17:17q12	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q12(chr17:32351496-34455576)x1	copy number loss	not provided [RCV000683918]	Chr17:32351496..34455576 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_018096.5(NLE1):c.108C>T (p.Pro36=)	single nucleotide variant	not provided [RCV000968739]	Chr17:35142033 [GRCh38] Chr17:33469052 [GRCh37] Chr17:17q12	benign
GRCh37/hg19 17q12(chr17:33073917-33863479)x1	copy number loss	not provided [RCV001006894]	Chr17:33073917..33863479 [GRCh37] Chr17:17q12	uncertain significance
Single allele	deletion	Neurodevelopmental disorder [RCV000787392]	Chr17:31889285..33557612 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	copy number gain	not provided [RCV000846852]	Chr17:21690653..38772647 [GRCh37] Chr17:17p11.2-q21.2	pathogenic
NM_018096.5(NLE1):c.11C>T (p.Ala4Val)	single nucleotide variant	not specified [RCV004325351]	Chr17:35142265 [GRCh38] Chr17:33469284 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.620T>G (p.Val207Gly)	single nucleotide variant	not specified [RCV004312682]	Chr17:35129456 [GRCh38] Chr17:33456475 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1349T>C (p.Met450Thr)	single nucleotide variant	not specified [RCV004234065]	Chr17:35133364 [GRCh38] Chr17:33460383 [GRCh37] Chr17:17q12	likely benign
NM_018096.5(NLE1):c.1060T>C (p.Phe354Leu)	single nucleotide variant	not specified [RCV004207008]	Chr17:35135403 [GRCh38] Chr17:33462422 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1327G>A (p.Val443Met)	single nucleotide variant	not specified [RCV004226516]	Chr17:35133386 [GRCh38] Chr17:33460405 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.919A>G (p.Ile307Val)	single nucleotide variant	not specified [RCV004227946]	Chr17:35130378 [GRCh38] Chr17:33457397 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1190A>T (p.Lys397Met)	single nucleotide variant	not specified [RCV004101793]	Chr17:35135273 [GRCh38] Chr17:33462292 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.902G>A (p.Arg301Gln)	single nucleotide variant	not specified [RCV004211404]	Chr17:35130361 [GRCh38] Chr17:33457380 [GRCh37] Chr17:17q12	likely benign
NM_018096.5(NLE1):c.1198G>C (p.Asp400His)	single nucleotide variant	not specified [RCV004117618]	Chr17:35135265 [GRCh38] Chr17:33462284 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1454G>A (p.Arg485Lys)	single nucleotide variant	not specified [RCV004098305]	Chr17:35132441 [GRCh38] Chr17:33459460 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1058T>C (p.Leu353Ser)	single nucleotide variant	not specified [RCV004079403]	Chr17:35135405 [GRCh38] Chr17:33462424 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1154G>A (p.Arg385His)	single nucleotide variant	not specified [RCV004215548]	Chr17:35135309 [GRCh38] Chr17:33462328 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.839C>T (p.Thr280Ile)	single nucleotide variant	not specified [RCV004095911]	Chr17:35130298 [GRCh38] Chr17:33457317 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.275A>G (p.Tyr92Cys)	single nucleotide variant	not specified [RCV004173782]	Chr17:35139954 [GRCh38] Chr17:33466973 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1127A>G (p.Asn376Ser)	single nucleotide variant	not specified [RCV004114834]	Chr17:35135336 [GRCh38] Chr17:33462355 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.709C>T (p.Arg237Cys)	single nucleotide variant	not specified [RCV004227170]	Chr17:35137120 [GRCh38] Chr17:33464139 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.824A>T (p.His275Leu)	single nucleotide variant	not specified [RCV004103396]	Chr17:35137005 [GRCh38] Chr17:33464024 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.649C>A (p.Arg217Ser)	single nucleotide variant	not specified [RCV004078961]	Chr17:35137180 [GRCh38] Chr17:33464199 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.785A>G (p.Asn262Ser)	single nucleotide variant	not specified [RCV004086783]	Chr17:35129621 [GRCh38] Chr17:33456640 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.569A>G (p.Gln190Arg)	single nucleotide variant	not specified [RCV004277369]	Chr17:35137609 [GRCh38] Chr17:33464628 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.415C>T (p.Arg139Cys)	single nucleotide variant	not specified [RCV004264502]	Chr17:35139280 [GRCh38] Chr17:33466299 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.922G>A (p.Gly308Arg)	single nucleotide variant	not specified [RCV004251908]	Chr17:35130381 [GRCh38] Chr17:33457400 [GRCh37] Chr17:17q12	likely benign
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	copy number loss	Chromosome 17q12 deletion syndrome [RCV003319594]	Chr17:30572862..35843988 [GRCh37] Chr17:17q11.2-12	pathogenic
NM_018096.5(NLE1):c.416G>A (p.Arg139His)	single nucleotide variant	not specified [RCV004352400]	Chr17:35139279 [GRCh38] Chr17:33466298 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.828C>T (p.Asp276=)	single nucleotide variant	not provided [RCV003428222]	Chr17:35137001 [GRCh38] Chr17:33464020 [GRCh37] Chr17:17q12	likely benign
GRCh37/hg19 17q12(chr17:33316754-33890206)x1	copy number loss	not specified [RCV003987224]	Chr17:33316754..33890206 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.904C>T (p.Arg302Cys)	single nucleotide variant	not specified [RCV004493309]	Chr17:35136422 [GRCh38] Chr17:33463441 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1350G>A (p.Met450Ile)	single nucleotide variant	not specified [RCV004493303]	Chr17:35133363 [GRCh38] Chr17:33460382 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.208G>A (p.Val70Ile)	single nucleotide variant	not specified [RCV004493305]	Chr17:35140021 [GRCh38] Chr17:33467040 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.389C>T (p.Ala130Val)	single nucleotide variant	not specified [RCV004493306]	Chr17:35139306 [GRCh38] Chr17:33466325 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1100G>A (p.Arg367Gln)	single nucleotide variant	not specified [RCV004493300]	Chr17:35135363 [GRCh38] Chr17:33462382 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1159G>A (p.Val387Met)	single nucleotide variant	not specified [RCV004493301]	Chr17:35135304 [GRCh38] Chr17:33462323 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1277G>A (p.Ser426Asn)	single nucleotide variant	not specified [RCV004493302]	Chr17:35133436 [GRCh38] Chr17:33460455 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.181G>A (p.Ala61Thr)	single nucleotide variant	not specified [RCV004493304]	Chr17:35140048 [GRCh38] Chr17:33467067 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.485T>C (p.Ile162Thr)	single nucleotide variant	not specified [RCV004493308]	Chr17:35137866 [GRCh38] Chr17:33464885 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.46C>T (p.Arg16Trp)	single nucleotide variant	not specified [RCV004493307]	Chr17:35142095 [GRCh38] Chr17:33469114 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.796G>A (p.Val266Met)	single nucleotide variant	not specified [RCV004391985]	Chr17:35129632 [GRCh38] Chr17:33456651 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.955G>A (p.Glu319Lys)	single nucleotide variant	not specified [RCV004391987]	Chr17:35130414 [GRCh38] Chr17:33457433 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.679G>A (p.Glu227Lys)	single nucleotide variant	not specified [RCV004391984]	Chr17:35129515 [GRCh38] Chr17:33456534 [GRCh37] Chr17:17q12	likely benign
NM_017559.4(FNDC8):c.889C>G (p.Arg297Gly)	single nucleotide variant	not specified [RCV004391986]	Chr17:35130348 [GRCh38] Chr17:33457367 [GRCh37] Chr17:17q12	uncertain significance
NC_000017.10:g.(?_33445500)_(34079869_?)del	deletion	Peroxisome biogenesis disorder 3A (Zellweger) [RCV004581340]	Chr17:33445500..34079869 [GRCh37] Chr17:17q12	pathogenic
NC_000017.10:g.(?_32908096)_(33513578_?)dup	duplication	not provided [RCV004581454]	Chr17:32908096..33513578 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1208C>T (p.Thr403Met)	single nucleotide variant	not specified [RCV004647271]	Chr17:35135255 [GRCh38] Chr17:33462274 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.634C>T (p.Leu212Phe)	single nucleotide variant	not specified [RCV004626050]	Chr17:35129470 [GRCh38] Chr17:33456489 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1127A>T (p.Asn376Ile)	single nucleotide variant	not specified [RCV004643779]	Chr17:35135336 [GRCh38] Chr17:33462355 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1153C>T (p.Arg385Cys)	single nucleotide variant	not specified [RCV004647272]	Chr17:35135310 [GRCh38] Chr17:33462329 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.455G>T (p.Cys152Phe)	single nucleotide variant	not specified [RCV004647273]	Chr17:35139240 [GRCh38] Chr17:33466259 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17q12-22(chr17:41196270-41277589)	copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419]	Chr17:41196270..41277589 [GRCh37] Chr17:17q12-22	pathogenic
NM_017559.4(FNDC8):c.913G>A (p.Val305Met)	single nucleotide variant	not specified [RCV004919156]	Chr17:35130372 [GRCh38] Chr17:33457391 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.916T>C (p.Ser306Pro)	single nucleotide variant	not specified [RCV004919159]	Chr17:35130375 [GRCh38] Chr17:33457394 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.890G>A (p.Arg297His)	single nucleotide variant	not specified [RCV004919155]	Chr17:35130349 [GRCh38] Chr17:33457368 [GRCh37] Chr17:17q12	uncertain significance
NM_017559.4(FNDC8):c.809G>A (p.Cys270Tyr)	single nucleotide variant	not specified [RCV004919157]	Chr17:35129645 [GRCh38] Chr17:33456664 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1394G>C (p.Ser465Thr)	single nucleotide variant	not specified [RCV004826895]	Chr17:35133222 [GRCh38] Chr17:33460241 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1156A>T (p.Ile386Phe)	single nucleotide variant	not specified [RCV004826897]	Chr17:35135307 [GRCh38] Chr17:33462326 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.685C>T (p.Arg229Trp)	single nucleotide variant	not specified [RCV004826894]	Chr17:35137144 [GRCh38] Chr17:33464163 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1099C>T (p.Arg367Trp)	single nucleotide variant	not specified [RCV004826891]	Chr17:35135364 [GRCh38] Chr17:33462383 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.503G>T (p.Gly168Val)	single nucleotide variant	not specified [RCV004826892]	Chr17:35137848 [GRCh38] Chr17:33464867 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1151C>G (p.Ser384Cys)	single nucleotide variant	not specified [RCV004826896]	Chr17:35135312 [GRCh38] Chr17:33462331 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.758G>A (p.Arg253Gln)	single nucleotide variant	not specified [RCV004826893]	Chr17:35137071 [GRCh38] Chr17:33464090 [GRCh37] Chr17:17q12	uncertain significance
NM_018096.5(NLE1):c.1120C>T (p.Leu374Phe)	single nucleotide variant	not specified [RCV004826898]	Chr17:35135343 [GRCh38] Chr17:33462362 [GRCh37] Chr17:17q12	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	4373
Count of miRNA genes:	1178
Interacting mature miRNAs:	1476
Transcripts:	ENST00000360831, ENST00000442241, ENST00000586869, ENST00000588019, ENST00000588642, ENST00000589367, ENST00000593176
Prediction methods:	Miranda, Pita, 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
1298406	BP16_H	Blood pressure QTL 16 (human)		0.0004	Blood pressure	hypertension susceptibility	17	14778647	40778647	Human

Markers in Region

RH15758

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	33,458,387 - 33,458,517	UniSTS	GRCh37
Build 36	17	30,482,500 - 30,482,630	RGD	NCBI36
Celera	17	30,368,579 - 30,368,709	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	29,643,068 - 29,643,198	UniSTS

STS-R50161

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	33,459,106 - 33,459,234	UniSTS	GRCh37
Build 36	17	30,483,219 - 30,483,347	RGD	NCBI36
Celera	17	30,369,298 - 30,369,426	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	29,643,787 - 29,643,915	UniSTS
GeneMap99-GB4 RH Map	17	295.52	UniSTS

STS-W73253

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	33,459,144 - 33,459,349	UniSTS	GRCh37
Build 36	17	30,483,257 - 30,483,462	RGD	NCBI36
Celera	17	30,369,336 - 30,369,541	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	29,643,825 - 29,644,030	UniSTS
GeneMap99-GB4 RH Map	17	293.11	UniSTS

MARC_26573-26574:1033747979:7

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	33,466,292 - 33,467,008	UniSTS	GRCh37
Build 36	17	30,490,405 - 30,491,121	RGD	NCBI36
Celera	17	30,376,484 - 30,377,200	RGD
HuRef	17	29,650,983 - 29,651,699	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	2439	2788	2253	4973	1726	2351	6	624	1951	465	2269	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001014445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018096	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017024777	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316529	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB209111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC022916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303253	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304508	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW451963	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002884	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE272051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI752930	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI911995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP244661	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ070427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC250965	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC311154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY320157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000360831 ⟹ ENSP00000354075

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,132,071 - 35,142,303 (-)	Ensembl

Ensembl Acc Id:

ENST00000442241 ⟹ ENSP00000413572

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,128,730 - 35,142,303 (-)	Ensembl

Ensembl Acc Id:

ENST00000586869 ⟹ ENSP00000466588

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,128,753 - 35,142,284 (-)	Ensembl

Ensembl Acc Id:

ENST00000588019 ⟹ ENSP00000466764

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,132,244 - 35,137,167 (-)	Ensembl

Ensembl Acc Id:

ENST00000588642 ⟹ ENSP00000465420

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,137,053 - 35,142,297 (-)	Ensembl

Ensembl Acc Id:

ENST00000589367 ⟹ ENSP00000468339

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,136,367 - 35,142,304 (-)	Ensembl

Ensembl Acc Id:

ENST00000593176

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,137,024 - 35,142,233 (-)	Ensembl

RefSeq Acc Id:

NM_001014445 ⟹ NP_001014445

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	35,131,322 - 35,142,251 (-)	NCBI
GRCh37	17	33,458,368 - 33,469,322 (-)	RGD
GRCh37	17	33,458,368 - 33,469,322 (-)	NCBI
Build 36	17	30,482,481 - 30,493,435 (-)	NCBI Archive
Celera	17	30,368,560 - 30,379,514 (-)	RGD
HuRef	17	29,643,022 - 29,654,025 (-)	NCBI
CHM1_1	17	33,522,700 - 33,533,628 (-)	NCBI
T2T-CHM13v2.0	17	36,079,235 - 36,090,163 (-)	NCBI

Sequence:

show sequence

GTGCGTGGATGGGGGCGGGGGGCGTCGCCGCGGGGCGCTAGGGCCCGGGTCCCTGAGGCCTGAG
AGAGGCGAAGTGGGGCCCTTCTGGGCGGGCGACCAGACTGACTCCCGCCCCACTTGCTCGCGCA
GGACGAGGCGGTGGCGCGCGATGTGCAGCGGTTGCTAGTGCAGTTCCAGGATGAGGGCGGGCAG
CTGCTGGGTTCCCCGTTCGACGTGCCCGTGGACATCACCCCGGACAGGCTGCAGCTCGTGTGCA
ACGCGCTACTGGCCCAGGAGGATCCCCTGCCACTGGCTTTCTTTGTCCACGATGCTGAGATCGT
CTCCTCACTGGGGAAGACGTTGGAGTCCCAGGCAGTGGAGACAGAGAAGGTCCTAGACATCATC
TACCAGCCACAGGCTATCTTCAGAGTCCGGGCTGTGACTCGCTGCACCAGCTCCTTGGAGGGTC
ACAGTGAGGCAGTCATTTCTGTGGCCTTCAGCCCTACGGGAAAGTACCTGGCCAGTGGCTCTGG
AGACACCACCGTGCGCTTCTGGGATCTCAGCACAGAGACACCACATTTCACATGCAAGGGACAC
AGACACTGGGTCCTTAGTATATCCTGGTCTCCAGATGGCAGGAAGCTGGCCTCAGGCTGCAAGA
ATGGCCAGATTCTCCTCTGGGACCCAAGCACAGGGAAGCAGGTGGGCAGGACCCTCGCTGGCCA
CAGCAAGTGGATCACAGGCCTGAGCTGGGAGCCCCTCCATGCGAACCCTGAGTGCCGCTATGTG
GCCAGCAGCTCCAAGGATGGCAGTGTGCGGATCTGGGACACAACTGCAGGCCGCTGTGAGCGCA
TCCTCACCGGGCACACCCAGTCGGTCACCTGTCTCCGGTGGGGAGGGGACGGGCTTCTCTACTC
TGCCTCCCAGGACCGCACCATCAAAGTCTGGAGAGCTCATGACGGTGTGCTGTGCCGGACTCTG
CAAGGCCACGGCCACTGGGTGAACACCATGGCCCTCAGCACTGACTATGCCCTGCGCACTGGGG
CCTTTGAACCTGCTGAGGCCTCAGTTAATCCCCAAGACCTCCAAGGATCCTTGCAGGAGTTGAA
GGAGAGGGCTCTGAGCCGATACAACCTCGTGCGGGGCCAGGGTCCAGAGAGGCTGGTGTCTGGC
TCCGACGACTTCACCTTATTCCTGTGGTCCCCAGCAGAGGACAAAAAGCCTCTCACTCGGATGA
CAGGACACCAAGCTCTCATCAACCAGGTGCTCTTCTCTCCTGACTCCCGCATCGTGGCTAGTGC
CTCCTTTGACAAGTCCATCAAGCTGTGGGATGGCAGGACGGGCAAGTACCTGGCTTCCCTACGC
GGCCACGTGGCTGCCGTGTACCAGATTGCGTGGTCAGCTGACAGTCGGCTCCTGGTCAGCGGCA
GCAGTGACAGCACACTGAAGGTGTGGGATGTGAAGGCCCAGAAGCTGGCCATGGACCTGCCCGG
CCACGCGGATGAGGTATATGCTGTTGACTGGAGTCCAGATGGCCAGAGAGTGGCAAGTGGTGGG
AAGGACAAATGCCTCCGGATATGGAGGAGATGAGACGGCCCGAAGTTCTCTCTGACCCCCACCT
CGACTCGGCCTCTGCCAGCTGCCTTCCCTGCCAGAGAACAAAGGCTGAGATGGCAGTGCACACA
CCCTCCCCACCAGTGGGGACCTGAGAATGCGTGTGGCCTGCTGTCCTCGATAGACCGGAATGGG
GTTTTCCCACAGATCCCCGCCTGTGGCACACCCCAGAGCCAGAAATCGAAGGTCACAGGAAGTT
GTCACTGAACTTGGCCCGTGTCTGCTACTCTGTACCTTGCTGGTACAGACAGGGGTGGTGGGCA
GCCAGGCTCTATGAGTGGGCCCCTAGTGTCAGCTCTGTACAGGGTCAGATCCCAGGTTCTATGA
CCAAATAAGTAACTTAAGTTTTGTGTGTTGGGTTCTAATTCCTTGTCCTAGAATCCCCATGACT
CAATCAAGGACTGTGCTAAATGAGATTGTCCAGCCCCCGCCCTTGCACTGGACTACGCCAAAAC
CACACTGACCAGGCACTTGCCTTCCCTCTCTTCCCCCGTGTTGGTAAGAGAGAGGCCAGTTGTG
ATAGTGGCCAAGGAGAATCTAGGGCTGTATTGTTGTCCACTGCAGTAGGCACCGGCCACATGTG
ACTGCTGGCATGAAATAGAAGTGCAGTTCCTCCATCGCACTGGGTAAGGCCTCCAGTATTGGAC
AGCACACAGAAAGGTTTTCATCATCAAGAGAGTTCTGCTGGTCAGCCCTGCTCCAGGGGATGCC
TCTGCCTTCGCATAGCACACTGCTTGAGGCCCTGCCAGGCACCAAGCACTGCCCTGGGCCCATG
GGATAGAGCGGGGAAGGTGATGGCTCTTCCAGAGGATTCCCTCAGATGGGGAGGCAGCAGTATG
AGCTCTGAGCAGAAGTGGGTATTGTTGATACAGAGGAAGTTCTTTGCCACGAGAACTTTCAAGC
AGTGAAAGGAATTCCCATCAGGACTCAGACCCCAGGCCGAGATCTTGCCCTGAATGTACCCTGC
CTCTGCTTTCTCCTGCATCCCATGCTAAGCAGGGTCATGGTCTGAACTACTCAGATTGGATTTC
CAAACCATCCTTGTATAAACTGCTCAGAACTAGCATCTTGCTCCTTCTTACCCTCCTCCAAAAA
AAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_018096 ⟹ NP_060566

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	35,128,730 - 35,142,303 (-)	NCBI
GRCh37	17	33,458,368 - 33,469,322 (-)	RGD
GRCh37	17	33,458,368 - 33,469,322 (-)	NCBI
Build 36	17	30,482,481 - 30,493,435 (-)	NCBI Archive
Celera	17	30,368,560 - 30,379,514 (-)	RGD
HuRef	17	29,643,022 - 29,654,025 (-)	NCBI
CHM1_1	17	33,522,700 - 33,533,692 (-)	NCBI
T2T-CHM13v2.0	17	36,076,643 - 36,090,215 (-)	NCBI

Sequence:

show sequence

CTCTTTCTCCTCCACGTGGGGACGCAGGATGGCGGCAGCAGTGCCGGACGAGGCGGTGGCGCGC
GATGTGCAGCGGTTGCTAGTGCAGTTCCAGGATGAGGGCGGGCAGCTGCTGGGTTCCCCGTTCG
ACGTGCCCGTGGACATCACCCCGGACAGGCTGCAGCTCGTGTGCAACGCGCTACTGGCCCAGGA
GGATCCCCTGCCACTGGCTTTCTTTGTCCACGATGCTGAGATCGTCTCCTCACTGGGGAAGACG
TTGGAGTCCCAGGCAGTGGAGACAGAGAAGGTCCTAGACATCATCTACCAGCCACAGGCTATCT
TCAGAGTCCGGGCTGTGACTCGCTGCACCAGCTCCTTGGAGGGTCACAGTGAGGCAGTCATTTC
TGTGGCCTTCAGCCCTACGGGAAAGTACCTGGCCAGTGGCTCTGGAGACACCACCGTGCGCTTC
TGGGATCTCAGCACAGAGACACCACATTTCACATGCAAGGGACACAGACACTGGGTCCTTAGTA
TATCCTGGTCTCCAGATGGCAGGAAGCTGGCCTCAGGCTGCAAGAATGGCCAGATTCTCCTCTG
GGACCCAAGCACAGGGAAGCAGGTGGGCAGGACCCTCGCTGGCCACAGCAAGTGGATCACAGGC
CTGAGCTGGGAGCCCCTCCATGCGAACCCTGAGTGCCGCTATGTGGCCAGCAGCTCCAAGGATG
GCAGTGTGCGGATCTGGGACACAACTGCAGGCCGCTGTGAGCGCATCCTCACCGGGCACACCCA
GTCGGTCACCTGTCTCCGGTGGGGAGGGGACGGGCTTCTCTACTCTGCCTCCCAGGACCGCACC
ATCAAAGTCTGGAGAGCTCATGACGGTGTGCTGTGCCGGACTCTGCAAGGCCACGGCCACTGGG
TGAACACCATGGCCCTCAGCACTGACTATGCCCTGCGCACTGGGGCCTTTGAACCTGCTGAGGC
CTCAGTTAATCCCCAAGACCTCCAAGGATCCTTGCAGGAGTTGAAGGAGAGGGCTCTGAGCCGA
TACAACCTCGTGCGGGGCCAGGGTCCAGAGAGGCTGGTGTCTGGCTCCGACGACTTCACCTTAT
TCCTGTGGTCCCCAGCAGAGGACAAAAAGCCTCTCACTCGGATGACAGGACACCAAGCTCTCAT
CAACCAGGTGCTCTTCTCTCCTGACTCCCGCATCGTGGCTAGTGCCTCCTTTGACAAGTCCATC
AAGCTGTGGGATGGCAGGACGGGCAAGTACCTGGCTTCCCTACGCGGCCACGTGGCTGCCGTGT
ACCAGATTGCGTGGTCAGCTGACAGTCGGCTCCTGGTCAGCGGCAGCAGTGACAGCACACTGAA
GGTGTGGGATGTGAAGGCCCAGAAGCTGGCCATGGACCTGCCCGGCCACGCGGATGAGGTATAT
GCTGTTGACTGGAGTCCAGATGGCCAGAGAGTGGCAAGTGGTGGGAAGGACAAATGCCTCCGGA
TATGGAGGAGATGAGACGGCCCGAAGTTCTCTCTGACCCCCACCTCGACTCGGCCTCTGCCAGC
TGCCTTCCCTGCCAGAGAACAAAGGCTGAGATGGCAGTGCACACACCCTCCCCACCAGTGGGGA
CCTGAGAATGCGTGTGGCCTGCTGTCCTCGATAGACCGGAATGGGGTTTTCCCACAGATCCCCG
CCTGTGGCACACCCCAGAGCCAGAAATCGAAGGTCACAGGAAGTTGTCACTGAACTTGGCCCGT
GTCTGCTACTCTGTACCTTGCTGGTACAGACAGGGGTGGTGGGCAGCCAGGCTCTATGAGTGGG
CCCCTAGTGTCAGCTCTGTACAGGGTCAGATCCCAGGTTCTATGACCAAATAAGTAACTTAAGT
TTTGTGTGTTGGGTTCTAATTCCTTGTCCTAGAATCCCCATGACTCAATCAAGGACTGTGCTAA
ATGAGATTGTCCAGCCCCCGCCCTTGCACTGGACTACGCCAAAACCACACTGACCAGGCACTTG
CCTTCCCTCTCTTCCCCCGTGTTGGTAAGAGAGAGGCCAGTTGTGATAGTGGCCAAGGAGAATC
TAGGGCTGTATTGTTGTCCACTGCAGTAGGCACCGGCCACATGTGACTGCTGGCATGAAATAGA
AGTGCAGTTCCTCCATCGCACTGGGTAAGGCCTCCAGTATTGGACAGCACACAGAAAGGTTTTC
ATCATCAAGAGAGTTCTGCTGGTCAGCCCTGCTCCAGGGGATGCCTCTGCCTTCGCATAGCACA
CTGCTTGAGGCCCTGCCAGGCACCAAGCACTGCCCTGGGCCCATGGGATAGAGCGGGGAAGGTG
ATGGCTCTTCCAGAGGATTCCCTCAGATGGGGAGGCAGCAGTATGAGCTCTGAGCAGAAGTGGG
TATTGTTGATACAGAGGAAGTTCTTTGCCACGAGAACTTTCAAGCAGTGAAAGGAATTCCCATC
AGGACTCAGACCCCAGGCCGAGATCTTGCCCTGAATGTACCCTGCCTCTGCTTTCTCCTGCATC
CCATGCTAAGCAGGGTCATGGTCTGAACTACTCAGATTGGATTTCCAAACCATCCTTGTATAAA
CTGCTCAGAACTAGCATCTTGCTCCTTCTTACCCTCCTCCACCCTTGTCTGTGCTTTTGGGTTT
TGCGCGTCACCTAGCTGTGGTGCTTGGCCTCCACCTTGCACATATCTGCAGTGAGGCTACATAA
GAAGCGAACAAAACTATCAGCCACTGAGCTCCTTGGTGCCAGCTGTTTGTCTGCTGTGCTCTCA
GACTGCACCAGGCCTGGAAGGTTCTCAAGCTCCAAAACTTTTGATGAGGAAACAACATAAGAAA
TGATTAGCCCATGCCCTCACATCTAGTAAGAGAAAGCTGGGATTAAACCAGGCCCTGCCCCAAA
GCTTATTGTGCACTTTGTACCACATCCCTCCGTCCAGAGCTCAAGCTAGTTTGACAGTTCATGG
GCCACCACGTCTGTCCATGACAGCTATTTCTGTATTTTTCTGGTGTAAGAGCCTTTTAGTCTTA
GAGCACCAGTCTCCCTGTTCCCCTACCCCGCCCCACTGGGGAAGGGGTGATGGCAGCATCCTAT
TGCCTAGCTGCCTGTTTTCTATCTCCCCACCCATGTAGACTCTGTCCTGGTGGAAGCTAGGAGG
TGGGTGCCAGCCAGCCCATCTGAGGCTGTCTGCAGCATAAAGCAGACTTTAGGGTGCTGGATGA
CCTGCAGTTCTTTAATGAGGGACCTAGACCCAGCCCAGATTTGGAGGAGGAGGGAGTCTAGCAG
CTGTGGGCAGTGGCTGAGCCTGGCATGGCCTGGCCTGAGATGCCTCCAGGTGAATGGGGCCCCT
ATGTAGCCTTGGCCCCAGCCCAGGGGTGGGGTGCCCATACCACTCTGCCAGACCCCGGGCCCGC
AGGGTGCTGGTGGTATGGTAGGTCTCATGGCTCTGGTTTCTGAGGGCCTGGGGTTGAAGCTGAA
AGTAGGTGAGGGGTGTCCTGGGGCCCTCCCCCTTAACAGGGAAATAGGTATTCCAGATCCTCCA
GCCTCCGCATCTCCTCCGGCCCGATGGACACGATCTTTTGCCGGGGTTCCTTGCGCCGCACGGT
GATCTGGATGGGGTAGTTCTCAGGAAAGCTGCTGAAGTCAGTGGCCAGGGTTGCAAACTGAAGT
GAAACAAGAAAACCCTTCAGAGTTCCTTCCCAGATCTGAACCTGGCTCTCTCTCTGTCTCTATC
ACCCCTTTTTTTTCTGTCTGCTGACTCAGACCTTAAACAGCCTTATCCAACCTAGCCATTGACG
CAGGAAACAGGTGCAAAGATGCATGACTCAAGCCTGTACCTCCTCATTATGGGATATTTCCAAC
CAAAGGGCTGTCTGTACTCAGGCCTCTATACCCCCATACCCCTACCCCATACCCAGGCTGTTCC
CTTCTTCGTCCCCCTTTAGCCTCTTGTCTTCCCTATTTCTTTCAATGCCCTTGACTTCCCAGCC
TACTCACAATCATGGGCACTGAATTGCAGAGTCTAAAAACCAATGGCTTTGGAAGGGGAACATT
ATAGTGATGTTGAAAAATACATTCGTTTGCATTCCTAGTGGGCCCCAGAGTGGCTTAATCCTTA
AACCTCCCAGAAGCATGCATTCTGGAATTGATGCTTCTTGACCCAGGCAGAAGGAAAGCTAGCC
AGATGAGTCATGTGGGCATAGGGGTGTTCCCAACCTCCAAAGCCCTGGTTCCCTGGCTTTGGAC
TTCTCTCCACCCCCAAGGCCCCTCTTTTCCCAGGGCTCACTTTGTAGGGCTTGCACCACTTCCC
CACCCCAGCTGTGTTGGCTGCACGGACACTGAGGCAGTAACACGTGTTAGGCTTTAGCTCCATC
AGCTTGACAGTAGTGCCCAAAATCTTGTTGAAGATCCATGGACGATTCTTTGCCTCGGGCAACT
CATTCTCCTGTGTCTTGGCCACCTCCTGTAACAGGAGCTGGTAGAAACTGACCGGCTGCTTGCC
CAAGGCGTAGGTCCAGGAAATCTAGGGGAAGAGAGAGCCCCGAGGCTTCCTCAGATATGTCCTG
TCCTTCCTGTCCCTTCACCCTCCCAACTGGGGTCAGGACGTCCCATGCCCATCCCCTGCTCCTG
CTGGGGCCCAGGCAGGTCAGATGGAAGGTGCAAGGTACTGCAGCACTGAGTGTGGAACCCCTGC
CCCGAAGCATGTACTACTCTCCTGGGCAGCCCCACCCACTTTAGGGTACACCCTCATTCCATAT
TTCTTATACGCCAGGGGTCCTCAACCCTTGGGCCACCAACTGATAGCAGTCCATGGCCTGTTAG
GAACTGGATAGCACAGCAGGAGGAGATTGGTGGGCGAGCAAGCGAAGCTTCATCTGTATTTACA
GCTGCTCCCCACGGCTCAGGGTACCACCTGAGCTCTGCCTCCTGTCAGATCAGCAGAGGCATTA
GATTCCCATAGGCACGTGAACCCTATTGTGAATTGTATGGGAGGGATCTAAGTTGAATGCTCCT
TATGAGAATCTAATGCCTGATGATCTGTCATTGTCTCCCATCACCCCCAAATGGGACCCTCTCG
TTGCAGGAAAACAAGCTCAGGGCTCCCACAGTTTCTACATTATGGTGAGTTGTATAATTATTTC
ATTATATATTACAATGTAATAATAATAGAAATAAAGTACACAATAAATGTAATATGCTTGACTC
ATCCTGAAA

hide sequence

RefSeq Acc Id:

XM_017024777 ⟹ XP_016880266

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	35,128,730 - 35,139,906 (-)	NCBI

Sequence:

show sequence

GCTCTTTCTCCTCCACGTGGGGACGCAGGATGGCGGCAGCAGTGCCGGACGAGGCGGTGGCGCG
CGATGTGCAGCGGTTGCTAGTGCAGTTCCAGGATGAGGGCGGGCAGCTGCTGGGTTCCCCGTTC
GACGTGCCCGTGGACATCACCCCGGACAGGCTGCAGCTCGTGTGCAACGCGCTACTGGCCCAGG
AGGATCCCCTGCCACTGGCTTTCTTTGTCCACGATGCTGAGATCGTCTCCTCACTGGGGAAGAC
GTTGGAGTCCCAGGCAGTGGAGACAGAGAAGGTCCTAGACATCATCTACCAGCCACAGGCTATC
TTCAGAGTCCGGGCTGTGACTCGCTGCACCAGCTCCTTGGAGGGTCACAGTGAGGCAGTCATTT
CTGTGGCCTTCAGCCCTACGGGAAAGTAAGGACAGCTGCAGACTCATGGAGGGGGTACCTGGCC
AGTGGCTCTGGAGACACCACCGTGCGCTTCTGGGATCTCAGCACAGAGACACCACATTTCACAT
GCAAGGGACACAGACACTGGGTCCTTAGTATATCCTGGTCTCCAGATGGCAGGAAGCTGGCCTC
AGGCTGCAAGAATGGCCAGATTCTCCTCTGGGACCCAAGCACAGGGAAGCAGGTGGGCAGGACC
CTCGCTGGCCACAGCAAGTGGATCACAGGCCTGAGCTGGGAGCCCCTCCATGCGAACCCTGAGT
GCCGCTATGTGGCCAGCAGCTCCAAGGATGGCAGTGTGCGGATCTGGGACACAACTGCAGGCCG
CTGTGAGCGCATCCTCACCGGGCACACCCAGTCGGTCACCTGTCTCCGGTGGGGAGGGGACGGG
CTTCTCTACTCTGCCTCCCAGGACCGCACCATCAAAGTCTGGAGAGCTCATGACGGTGTGCTGT
GCCGGACTCTGCAAGGCCACGGCCACTGGGTGAACACCATGGCCCTCAGCACTGACTATGCCCT
GCGCACTGGGGCCTTTGAACCTGCTGAGGCCTCAGTTAATCCCCAAGACCTCCAAGGATCCTTG
CAGGAGTTGAAGGAGAGGGCTCTGAGCCGATACAACCTCGTGCGGGGCCAGGGTCCAGAGAGGC
TGGTGTCTGGCTCCGACGACTTCACCTTATTCCTGTGGTCCCCAGCAGAGGACAAAAAGCCTCT
CACTCGGATGACAGGACACCAAGCTCTCATCAACCAGGTGCTCTTCTCTCCTGACTCCCGCATC
GTGGCTAGTGCCTCCTTTGACAAGTCCATCAAGCTGTGGGATGGCAGGACGGGCAAGTACCTGG
CTTCCCTACGCGGCCACGTGGCTGCCGTGTACCAGATTGCGTGGTCAGCTGACAGTCGGCTCCT
GGTCAGCGGCAGCAGTGACAGCACACTGAAGGTGTGGGATGTGAAGGCCCAGAAGCTGGCCATG
GACCTGCCCGGCCACGCGGATGAGGTATATGCTGTTGACTGGAGTCCAGATGGCCAGAGAGTGG
CAAGTGGTGGGAAGGACAAATGCCTCCGGATATGGAGGAGATGAGACGGCCCGAAGTTCTCTCT
GACCCCCACCTCGACTCGGCCTCTGCCAGCTGCCTTCCCTGCCAGAGAACAAAGGCTGAGATGG
CAGTGCACACACCCTCCCCACCAGTGGGGACCTGAGAATGCGTGTGGCCTGCTGTCCTCGATAG
ACCGGAATGGGGTTTTCCCACAGATCCCCGCCTGTGGCACACCCCAGAGCCAGAAATCGAAGGT
CACAGGAAGTTGTCACTGAACTTGGCCCGTGTCTGCTACTCTGTACCTTGCTGGTACAGACAGG
GGTGGTGGGCAGCCAGGCTCTATGAGTGGGCCCCTAGTGTCAGCTCTGTACAGGGTCAGATCCC
AGGTTCTATGACCAAATAAGTAACTTAAGTTTTGTGTGTTGGGTTCTAATTCCTTGTCCTAGAA
TCCCCATGACTCAATCAAGGACTGTGCTAAATGAGATTGTCCAGCCCCCGCCCTTGCACTGGAC
TACGCCAAAACCACACTGACCAGGCACTTGCCTTCCCTCTCTTCCCCCGTGTTGGTAAGAGAGA
GGCCAGTTGTGATAGTGGCCAAGGAGAATCTAGGGCTGTATTGTTGTCCACTGCAGTAGGCACC
GGCCACATGTGACTGCTGGCATGAAATAGAAGTGCAGTTCCTCCATCGCACTGGGTAAGGCCTC
CAGTATTGGACAGCACACAGAAAGGTTTTCATCATCAAGAGAGTTCTGCTGGTCAGCCCTGCTC
CAGGGGATGCCTCTGCCTTCGCATAGCACACTGCTTGAGGCCCTGCCAGGCACCAAGCACTGCC
CTGGGCCCATGGGATAGAGCGGGGAAGGTGATGGCTCTTCCAGAGGATTCCCTCAGATGGGGAG
GCAGCAGTATGAGCTCTGAGCAGAAGTGGGTATTGTTGATACAGAGGAAGTTCTTTGCCACGAG
AACTTTCAAGCAGTGAAAGGAATTCCCATCAGGACTCAGACCCCAGGCCGAGATCTTGCCCTGA
ATGTACCCTGCCTCTGCTTTCTCCTGCATCCCATGCTAAGCAGGGTCATGGTCTGAACTACTCA
GATTGGATTTCCAAACCATCCTTGTATAAACTGCTCAGAACTAGCATCTTGCTCCTTCTTACCC
TCCTCCACCCTTGTCTGTGCTTTTGGGTTTTGCGCGTCACCTAGCTGTGGTGCTTGGCCTCCAC
CTTGCACATATCTGCAGTGAGGCTACATAAGAAGCGAACAAAACTATCAGCCACTGAGCTCCTT
GGTGCCAGCTGTTTGTCTGCTGTGCTCTCAGACTGCACCAGGCCTGGAAGGTTCTCAAGCTCCA
AAACTTTTGATGAGGAAACAACATAAGAAATGATTAGCCCATGCCCTCACATCTAGTAAGAGAA
AGCTGGGATTAAACCAGGCCCTGCCCCAAAGCTTATTGTGCACTTTGTACCACATCCCTCCGTC
CAGAGCTCAAGCTAGTTTGACAGTTCATGGGCCACCACGTCTGTCCATGACAGCTATTTCTGTA
TTTTTCTGGTGTAAGAGCCTTTTAGTCTTAGAGCACCAGTCTCCCTGTTCCCCTACCCCGCCCC
ACTGGGGAAGGGGTGATGGCAGCATCCTATTGCCTAGCTGCCTGTTTTCTATCTCCCCACCCAT
GTAGACTCTGTCCTGGTGGAAGCTAGGAGGTGGGTGCCAGCCAGCCCATCTGAGGCTGTCTGCA
GCATAAAGCAGACTTTAGGGTGCTGGATGACCTGCAGTTCTTTAATGAGGGACCTAGACCCAGC
CCAGATTTGGAGGAGGAGGGAGTCTAGCAGCTGTGGGCAGTGGCTGAGCCTGGCATGGCCTGGC
CTGAGATGCCTCCAGGTGAATGGGGCCCCTATGTAGCCTTGGCCCCAGCCCAGGGGTGGGGTGC
CCATACCACTCTGCCAGACCCCGGGCCCGCAGGGTGCTGGTGGTATGGTAGGTCTCATGGCTCT
GGTTTCTGAGGGCCTGGGGTTGAAGCTGAAAGTAGGTGAGGGGTGTCCTGGGGCCCTCCCCCTT
AACAGGGAAATAGGTATTCCAGATCCTCCAGCCTCCGCATCTCCTCCGGCCCGATGGACACGAT
CTTTTGCCGGGGTTCCTTGCGCCGCACGGTGATCTGGATGGGGTAGTTCTCAGGAAAGCTGCTG
AAGTCAGTGGCCAGGGTTGCAAACTGAAGTGAAACAAGAAAACCCTTCAGAGTTCCTTCCCAGA
TCTGAACCTGGCTCTCTCTCTGTCTCTATCACCCCTTTTTTTTCTGTCTGCTGACTCAGACCTT
AAACAGCCTTATCCAACCTAGCCATTGACGCAGGAAACAGGTGCAAAGATGCATGACTCAAGCC
TGTACCTCCTCATTATGGGATATTTCCAACCAAAGGGCTGTCTGTACTCAGGCCTCTATACCCC
CATACCCCTACCCCATACCCAGGCTGTTCCCTTCTTCGTCCCCCTTTAGCCTCTTGTCTTCCCT
ATTTCTTTCAATGCCCTTGACTTCCCAGCCTACTCACAATCATGGGCACTGAATTGCAGAGTCT
AAAAACCAATGGCTTTGGAAGGGGAACATTATAGTGATGTTGAAAAATACATTCGTTTGCATTC
CTAGTGGGCCCCAGAGTGGCTTAATCCTTAAACCTCCCAGAAGCATGCATTCTGGAATTGATGC
TTCTTGACCCAGGCAGAAGGAAAGCTAGCCAGATGAGTCATGTGGGCATAGGGGTGTTCCCAAC
CTCCAAAGCCCTGGTTCCCTGGCTTTGGACTTCTCTCCACCCCCAAGGCCCCTCTTTTCCCAGG
GCTCACTTTGTAGGGCTTGCACCACTTCCCCACCCCAGCTGTGTTGGCTGCACGGACACTGAGG
CAGTAACACGTGTTAGGCTTTAGCTCCATCAGCTTGACAGTAGTGCCCAAAATCTTGTTGAAGA
TCCATGGACGATTCTTTGCCTCGGGCAACTCATTCTCCTGTGTCTTGGCCACCTCCTGTAACAG
GAGCTGGTAGAAACTGACCGGCTGCTTGCCCAAGGCGTAGGTCCAGGAAATCTAGGGGAAGAGA
GAGCCCCGAGGCTTCCTCAGATATGTCCTGTCCTTCCTGTCCCTTCACCCTCCCAACTGGGGTC
AGGACGTCCCATGCCCATCCCCTGCTCCTGCTGGGGCCCAGGCAGGTCAGATGGAAGGTGCAAG
GTACTGCAGCACTGAGTGTGGAACCCCTGCCCCGAAGCATGTACTACTCTCCTGGGCAGCCCCA
CCCACTTTAGGGTACACCCTCATTCCATATTTCTTATACGCCAGGGGTCCTCAACCCTTGGGCC
ACCAACTGATAGCAGTCCATGGCCTGTTAGGAACTGGATAGCACAGCAGGAGGAGATTGGTGGG
CGAGCAAGCGAAGCTTCATCTGTATTTACAGCTGCTCCCCACGGCTCAGGGTACCACCTGAGCT
CTGCCTCCTGTCAGATCAGCAGAGGCATTAGATTCCCATAGGCACGTGAACCCTATTGTGAATT
GTATGGGAGGGATCTAAGTTGAATGCTCCTTATGAGAATCTAATGCCTGATGATCTGTCATTGT
CTCCCATCACCCCCAAATGGGACCCTCTCGTTGCAGGAAAACAAGCTCAGGGCTCCCACAGTTT
CTACATTATGGTGAGTTGTATAATTATTTCATTATATATTACAATGTAATAATAATAGAAATAA
AGTACACAATAAAT

hide sequence

RefSeq Acc Id:

XM_054316529 ⟹ XP_054172504

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	36,076,643 - 36,087,819 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001014445	(Get FASTA)	NCBI Sequence Viewer
	NP_060566	(Get FASTA)	NCBI Sequence Viewer
	XP_016880266	(Get FASTA)	NCBI Sequence Viewer
	XP_054172504	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH02884	(Get FASTA)	NCBI Sequence Viewer
	AAH12075	(Get FASTA)	NCBI Sequence Viewer
	BAA91621	(Get FASTA)	NCBI Sequence Viewer
	BAD92348	(Get FASTA)	NCBI Sequence Viewer
	BAG64336	(Get FASTA)	NCBI Sequence Viewer
	BAG65315	(Get FASTA)	NCBI Sequence Viewer
	CAA06444	(Get FASTA)	NCBI Sequence Viewer
	CBJ05780	(Get FASTA)	NCBI Sequence Viewer
	CBJ21232	(Get FASTA)	NCBI Sequence Viewer
	EAW80165	(Get FASTA)	NCBI Sequence Viewer
	EAW80166	(Get FASTA)	NCBI Sequence Viewer
	EAW80167	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000354075.5
	ENSP00000413572
	ENSP00000413572.3
	ENSP00000465420.1
	ENSP00000466588
	ENSP00000466588.1
	ENSP00000466764.1
	ENSP00000468339.1
GenBank Protein	Q9NVX2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001014445 ⟸ NM_001014445
- Peptide Label:	isoform b
- UniProtKB:	Q9NVX2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MALSTDYALRTGAFEPAEASVNPQDLQGSLQELKERALSRYNLVRGQGPERLVSGSDDFTLFLW SPAEDKKPLTRMTGHQALINQVLFSPDSRIVASASFDKSIKLWDGRTGKYLASLRGHVAAVYQI AWSADSRLLVSGSSDSTLKVWDVKAQKLAMDLPGHADEVYAVDWSPDGQRVASGGKDKCLRIWR R hide sequence

RefSeq Acc Id:	NP_060566 ⟸ NM_018096
- Peptide Label:	isoform a
- UniProtKB:	Q59GJ8 (UniProtKB/Swiss-Prot), O60868 (UniProtKB/Swiss-Prot), Q9BU54 (UniProtKB/Swiss-Prot), Q9NVX2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAAAVPDEAVARDVQRLLVQFQDEGGQLLGSPFDVPVDITPDRLQLVCNALLAQEDPLPLAFFV HDAEIVSSLGKTLESQAVETEKVLDIIYQPQAIFRVRAVTRCTSSLEGHSEAVISVAFSPTGKY LASGSGDTTVRFWDLSTETPHFTCKGHRHWVLSISWSPDGRKLASGCKNGQILLWDPSTGKQVG RTLAGHSKWITGLSWEPLHANPECRYVASSSKDGSVRIWDTTAGRCERILTGHTQSVTCLRWGG DGLLYSASQDRTIKVWRAHDGVLCRTLQGHGHWVNTMALSTDYALRTGAFEPAEASVNPQDLQG SLQELKERALSRYNLVRGQGPERLVSGSDDFTLFLWSPAEDKKPLTRMTGHQALINQVLFSPDS RIVASASFDKSIKLWDGRTGKYLASLRGHVAAVYQIAWSADSRLLVSGSSDSTLKVWDVKAQKL AMDLPGHADEVYAVDWSPDGQRVASGGKDKCLRIWRR hide sequence

RefSeq Acc Id:	XP_016880266 ⟸ XM_017024777
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVX2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MALSTDYALRTGAFEPAEASVNPQDLQGSLQELKERALSRYNLVRGQGPERLVSGSDDFTLFLW SPAEDKKPLTRMTGHQALINQVLFSPDSRIVASASFDKSIKLWDGRTGKYLASLRGHVAAVYQI AWSADSRLLVSGSSDSTLKVWDVKAQKLAMDLPGHADEVYAVDWSPDGQRVASGGKDKCLRIWR R hide sequence

Ensembl Acc Id:

ENSP00000354075 ⟸ ENST00000360831

Ensembl Acc Id:

ENSP00000466588 ⟸ ENST00000586869

Ensembl Acc Id:

ENSP00000466764 ⟸ ENST00000588019

Ensembl Acc Id:

ENSP00000465420 ⟸ ENST00000588642

Ensembl Acc Id:

ENSP00000413572 ⟸ ENST00000442241

Ensembl Acc Id:

ENSP00000468339 ⟸ ENST00000589367

RefSeq Acc Id:	XP_054172504 ⟸ XM_054316529
- Peptide Label:	isoform X1

Protein Domains

NLE

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9NVX2-F1-model_v2	AlphaFold	Q9NVX2	1-485	view protein structure

Promoters

RGD ID:

6793989

Promoter ID:

HG_KWN:25778

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000360831, NM_001014445, OTTHUMT00000256441, OTTHUMT00000256442, OTTHUMT00000256444, UC010CTN.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	30,492,939 - 30,493,439 (-)	MPROMDB

RGD ID:

6852026

Promoter ID:

EP73819

Type:

multiple initiation site

Name:

HS_FLJ10458

Description:

Hypothetical protein similar to beta-transducin family.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	30,493,435 - 30,493,495	EPD

RGD ID:

7234629

Promoter ID:

EPDNEW_H23060

Type:

multiple initiation site

Name:

NLE1_1

Description:

notchless homolog 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	35,142,297 - 35,142,357	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:19889	AgrOrtholog
COSMIC	NLE1	COSMIC
Ensembl Genes	ENSG00000073536	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000360831.9	UniProtKB/TrEMBL
	ENST00000442241	ENTREZGENE
	ENST00000442241.9	UniProtKB/Swiss-Prot
	ENST00000586869	ENTREZGENE
	ENST00000586869.5	UniProtKB/Swiss-Prot
	ENST00000588019.1	UniProtKB/TrEMBL
	ENST00000588642.1	UniProtKB/TrEMBL
	ENST00000589367.5	UniProtKB/TrEMBL
Gene3D-CATH	2.130.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000073536	GTEx
HGNC ID	HGNC:19889	ENTREZGENE
Human Proteome Map	NLE1	Human Proteome Map
InterPro	G-protein_beta_WD-40_rep	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Gprotein_B	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	NLE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40/YVTN_repeat-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40_repeat	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40_repeat_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40_repeat_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:54475	UniProtKB/Swiss-Prot
NCBI Gene	54475	ENTREZGENE
OMIM	620924	OMIM
PANTHER	NOTCHLESS PROTEIN HOMOLOG 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40 REPEAT PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	NLE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142671263	PharmGKB
PRINTS	GPROTEINB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GPROTEINBRPT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	WD_REPEATS_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD_REPEATS_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD_REPEATS_REGION	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	WD40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF50978	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0A0MRH0_HUMAN	UniProtKB/TrEMBL
	K7EK23_HUMAN	UniProtKB/TrEMBL
	K7EN33_HUMAN	UniProtKB/TrEMBL
	K7ERN7_HUMAN	UniProtKB/TrEMBL
	NLE1_HUMAN	UniProtKB/Swiss-Prot
	O60868	ENTREZGENE
	Q59GJ8	ENTREZGENE
	Q9BU54	ENTREZGENE
	Q9NVX2	ENTREZGENE
UniProt Secondary	O60868	UniProtKB/Swiss-Prot
	Q59GJ8	UniProtKB/Swiss-Prot
	Q9BU54	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-05-10	NLE1	notchless homolog 1		notchless homolog 1 (Drosophila)	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 Disease Annotations - ClinVar