Advanced Search (OLGA)

Gene: NHLH1 (nescient helix-loop-helix 1) Homo sapiens

Subscribe to Updates

Analyze

Symbol:

NHLH1

Name:

nescient helix-loop-helix 1

RGD ID:

1321059

HGNC Page

HGNC:7817

Description:

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bHLHa35; class A basic helix-loop-helix protein 35; helix-loop-helix protein 1; HEN-1; HEN1; nescient helix loop helix 1; NSCL; NSCL-1; NSCL1

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):	Nhlh1 (nescient helix loop helix 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Rattus norvegicus (Norway rat):	Nhlh1 (nescient helix loop helix 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Nhlh1 (nescient helix-loop-helix 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NHLH1 (nescient helix-loop-helix 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	NHLH1 (nescient helix-loop-helix 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Nhlh1 (nescient helix-loop-helix 1)	NCBI	Ortholog
Sus scrofa (pig):	NHLH1 (nescient helix-loop-helix 1)	HGNC	EggNOG, Ensembl, NCBI, OMA, Panther
Chlorocebus sabaeus (green monkey):	NHLH1 (nescient helix-loop-helix 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Nhlh1 (nescient helix-loop-helix 1)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Slc39a2 (solute carrier family 39 member 2)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Nhlh1 (nescient helix loop helix 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Mus musculus (house mouse):	Nhlh1 (nescient helix loop helix 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	hlh-15	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	HLH4C	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	nhlh1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	nhlh1	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	nhlh1.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	1	160,367,071 - 160,372,846 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	160,367,071 - 160,372,846 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	160,336,861 - 160,342,636 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	158,603,498 - 158,609,229 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	157,149,946 - 157,155,673	NCBI
Celera	1	133,405,619 - 133,411,396 (+)	NCBI		Celera
Cytogenetic Map	1	q23.2	NCBI
HuRef	1	131,693,002 - 131,698,779 (+)	NCBI		HuRef
CHM1_1	1	161,732,200 - 161,737,981 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	159,504,143 - 159,509,918 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHLH1	Human	autoimmune interstitial lung, joint, and kidney disease		IAGP	RGD:151814540	8554872	ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome	ClinVar	PMID:28492532
NHLH1	Human	gastrointestinal stromal tumor		IAGP	RGD:126734315	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
NHLH1	Human	parathyroid carcinoma		IAGP	RGD:126734315	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHLH1	Human	1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene	multiple interactions	ISO	RGD:1321060	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
NHLH1	Human	1,2-dichloroethane	increases expression	ISO	RGD:1321060	6480464	ethylene dichloride results in increased expression of NHLH1 mRNA	CTD	PMID:28189721\|PMID:28960355
NHLH1	Human	2,2',4,4',5,5'-hexachlorobiphenyl	multiple interactions	ISO	RGD:1321060	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
NHLH1	Human	2,2',5,5'-tetrachlorobiphenyl	multiple interactions	ISO	RGD:1321060	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
NHLH1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1310261	6480464	Tetrachlorodibenzodioxin results in increased expression of NHLH1 mRNA	CTD	PMID:32109520
NHLH1	Human	2,3,7,8-Tetrachlorodibenzofuran	increases expression	ISO	RGD:1310261	6480464	2,3,7,8-tetrachlorodibenzofuran results in increased expression of NHLH1 mRNA	CTD	PMID:32109520
NHLH1	Human	2,4,4'-trichlorobiphenyl	multiple interactions	ISO	RGD:1321060	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
NHLH1	Human	4,4'-diaminodiphenylmethane	increases expression	ISO	RGD:1321060	6480464	4,4'-diaminodiphenylmethane results in increased expression of NHLH1 mRNA	CTD	PMID:18648102
NHLH1	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	RGD:1321060	6480464	bisphenol S results in decreased expression of NHLH1 mRNA	CTD	PMID:30951980
NHLH1	Human	6-propyl-2-thiouracil	increases expression	ISO	RGD:1310261	6480464	Propylthiouracil results in increased expression of NHLH1 mRNA	CTD	PMID:24780913
NHLH1	Human	antimycin A	decreases expression	EXP		6480464	Antimycin A results in decreased expression of NHLH1 mRNA	CTD	PMID:33512557
NHLH1	Human	aristolochic acid A	increases expression	EXP		6480464	aristolochic acid I results in increased expression of NHLH1 mRNA	CTD	PMID:33212167
NHLH1	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of NHLH1 mRNA	CTD	PMID:22378314
NHLH1	Human	azoxystrobin	decreases expression	EXP		6480464	azoxystrobin results in decreased expression of NHLH1 mRNA	CTD	PMID:33512557
NHLH1	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of NHLH1 3' UTR	CTD	PMID:27901495
NHLH1	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of NHLH1 promoter	CTD	PMID:27901495
NHLH1	Human	bis(2-chloroethyl) sulfide	increases expression	ISO	RGD:1321060	6480464	Mustard Gas results in increased expression of NHLH1 mRNA	CTD	PMID:15674843
NHLH1	Human	bis(2-ethylhexyl) phthalate	decreases expression	EXP		6480464	Diethylhexyl Phthalate results in decreased expression of NHLH1 mRNA	CTD	PMID:31163220
NHLH1	Human	bisphenol A	decreases expression	ISO	RGD:1310261	6480464	bisphenol A results in decreased expression of NHLH1 mRNA	CTD	PMID:25181051
NHLH1	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of NHLH1 gene	CTD	PMID:31601247
NHLH1	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of NHLH1 gene	CTD	PMID:31601247
NHLH1	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of NHLH1 mRNA	CTD	PMID:33670352
NHLH1	Human	bisphenol A	increases expression	ISO	RGD:1310261	6480464	bisphenol A results in increased expression of NHLH1 mRNA	CTD	PMID:34947998
NHLH1	Human	butanal	decreases expression	EXP		6480464	butyraldehyde results in decreased expression of NHLH1 mRNA	CTD	PMID:26079696
NHLH1	Human	cadmium dichloride	decreases expression	EXP		6480464	Cadmium Chloride results in decreased expression of NHLH1 mRNA	CTD	PMID:26472689
NHLH1	Human	carbamazepine	affects expression	EXP		6480464	Carbamazepine affects the expression of NHLH1 mRNA	CTD	PMID:25979313
NHLH1	Human	carbon nanotube	increases expression	ISO	RGD:1321060	6480464	Nanotubes, Carbon analog results in increased expression of NHLH1 mRNA; Nanotubes, Carbon results in increased more ...	CTD	PMID:25554681
NHLH1	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in increased methylation of NHLH1 gene	CTD	PMID:31601247
NHLH1	Human	lead(0)	affects expression	EXP		6480464	Lead affects the expression of NHLH1 mRNA	CTD	PMID:28903495
NHLH1	Human	Licochalcone B	increases expression	EXP		6480464	licochalcone B results in increased expression of NHLH1 mRNA	CTD	PMID:33647349
NHLH1	Human	lipopolysaccharide	multiple interactions	ISO	RGD:1321060	6480464	NHLH1 protein promotes the reaction [Lipopolysaccharides results in increased expression of IL6 protein]; NHLH1 protein more ...	CTD	PMID:21131441
NHLH1	Human	lipopolysaccharide	increases response to substance	ISO	RGD:1321060	6480464	NHLH1 protein results in increased susceptibility to Lipopolysaccharides	CTD	PMID:21131441
NHLH1	Human	lithium chloride	decreases expression	EXP		6480464	Lithium Chloride results in decreased expression of NHLH1 mRNA	CTD	PMID:23527032
NHLH1	Human	N-methyl-4-phenylpyridinium	increases expression	EXP		6480464	1-Methyl-4-phenylpyridinium results in increased expression of NHLH1 mRNA	CTD	PMID:24810058
NHLH1	Human	PCB138	multiple interactions	ISO	RGD:1321060	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
NHLH1	Human	pirinixic acid	increases expression	ISO	RGD:1321060	6480464	pirinixic acid results in increased expression of NHLH1 mRNA	CTD	PMID:18445702
NHLH1	Human	pyrimidifen	decreases expression	EXP		6480464	pyrimidifen results in decreased expression of NHLH1 mRNA	CTD	PMID:33512557
NHLH1	Human	rotenone	increases expression	EXP		6480464	Rotenone results in increased expression of NHLH1 mRNA	CTD	PMID:29955902
NHLH1	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of NHLH1 mRNA	CTD	PMID:38568856
NHLH1	Human	Soman	decreases expression	ISO	RGD:1310261	6480464	Soman results in decreased expression of NHLH1 mRNA	CTD	PMID:19281266
NHLH1	Human	thalidomide	increases expression	ISO	RGD:1321060	6480464	Thalidomide results in increased expression of NHLH1 mRNA	CTD	PMID:26217789
NHLH1	Human	thiram	increases expression	EXP		6480464	Thiram results in increased expression of NHLH1 mRNA	CTD	PMID:38568856
NHLH1	Human	titanium dioxide	decreases methylation	ISO	RGD:1321060	6480464	titanium dioxide results in decreased methylation of NHLH1 gene	CTD	PMID:35295148
NHLH1	Human	trichloroethene	increases methylation	ISO	RGD:1310261	6480464	Trichloroethylene results in increased methylation of NHLH1 gene	CTD	PMID:27618143
NHLH1	Human	triptonide	increases expression	ISO	RGD:1321060	6480464	triptonide results in increased expression of NHLH1 mRNA	CTD	PMID:33045310
NHLH1	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of NHLH1 mRNA	CTD	PMID:23179753
NHLH1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of NHLH1 mRNA	CTD	PMID:25979313

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHLH1	Human	cell differentiation	involved_in	IEA	UniProtKB-KW:KW-0221	150520179		UniProt	GO_REF:0000043
NHLH1	Human	central nervous system development	involved_in	TAS		150520179	PMID:1328219	PINC	PMID:1328219
NHLH1	Human	positive regulation of transcription by RNA polymerase II	involved_in	IDA		150520179	PMID:12878195	NTNU_SB	PMID:12878195
NHLH1	Human	regulation of transcription by RNA polymerase II	involved_in	IEA	InterPro:IPR040238	150520179		InterPro	GO_REF:0000002
NHLH1	Human	regulation of transcription by RNA polymerase II	involved_in	IBA	MGI:97324\|MGI:98480\|PANTHER:PTN001015390\|UniProtKB:P17542\|UniProtKB:Q02575	150520179		GO_Central	GO_REF:0000033

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHLH1	Human	chromatin	located_in	ISA	tfclass:1.2.3	150520179		NTNU_SB	GO_REF:0000113
NHLH1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
NHLH1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHLH1	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
NHLH1	Human	DNA-binding transcription activator activity, RNA polymerase II-specific	enables	IDA		150520179	PMID:12878195	NTNU_SB	PMID:12878195
NHLH1	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	IEA	InterPro:IPR040238	150520179		InterPro	GO_REF:0000002
NHLH1	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	IBA	MGI:97324\|MGI:98480\|PANTHER:PTN001015390\|UniProtKB:Q02575	150520179		GO_Central	GO_REF:0000033
NHLH1	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	ISA	tfclass:1.2.3	150520179		NTNU_SB	GO_REF:0000113
NHLH1	Human	protein binding	enables	IPI	UniProtKB:Q6IPU0\|UniProtKB:Q99832	150520179	PMID:32296183	IntAct	PMID:32296183
NHLH1	Human	protein binding	enables	IPI	UniProtKB:P11309\|UniProtKB:Q6IPU0	150520179	PMID:25416956	IntAct	PMID:25416956
NHLH1	Human	protein dimerization activity	enables	IEA	InterPro:IPR011598\|InterPro:IPR036638	150520179		InterPro	GO_REF:0000002
NHLH1	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IBA	MGI:97324\|MGI:98480\|PANTHER:PTN001015390\|UniProtKB:P17542	150520179		GO_Central	GO_REF:0000033
NHLH1	Human	RNA polymerase II transcription regulatory region sequence-specific DNA binding	enables	IDA		150520179	PMID:12878195	NTNU_SB	PMID:12878195
NHLH1	Human	sequence-specific double-stranded DNA binding	enables	IDA		150520179	PMID:28473536	ARUK-UCL	PMID:28473536

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHLH1	Human	Gastrointestinal stroma tumor		IAGP	RGD:126734315	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
NHLH1	Human	Parathyroid carcinoma		IAGP	RGD:126734315	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532

#	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

PMID:1328219	PMID:1528853	PMID:1729708	PMID:10603358	PMID:12477932	PMID:12878195	PMID:15489334	PMID:16344560	PMID:19274049	PMID:19322201	PMID:21873635	PMID:21988832
PMID:25243493	PMID:25416956	PMID:27149122	PMID:28473536	PMID:32296183	PMID:35140242

NHLH1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	160,367,071 - 160,372,846 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	160,367,071 - 160,372,846 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	160,336,861 - 160,342,636 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	158,603,498 - 158,609,229 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	157,149,946 - 157,155,673	NCBI
Celera	1	133,405,619 - 133,411,396 (+)	NCBI		Celera
Cytogenetic Map	1	q23.2	NCBI
HuRef	1	131,693,002 - 131,698,779 (+)	NCBI		HuRef
CHM1_1	1	161,732,200 - 161,737,981 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	159,504,143 - 159,509,918 (+)	NCBI		T2T-CHM13v2.0

Nhlh1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	171,879,859 - 171,885,163 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	171,879,859 - 171,885,140 (-)	Ensembl		GRCm39 Ensembl
GRCm38	1	172,052,292 - 172,057,596 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	172,052,292 - 172,057,573 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	173,982,423 - 173,987,727 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	173,888,967 - 173,894,238 (-)	NCBI		MGSCv36	mm8
Celera	1	174,906,526 - 174,911,828 (-)	NCBI		Celera
Cytogenetic Map	1	H3	NCBI
cM Map	1	79.54	NCBI

Nhlh1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	13	87,049,733 - 87,054,934 (-)	NCBI		GRCr8
mRatBN7.2	13	84,517,347 - 84,522,548 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	13	84,517,289 - 84,525,094 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	13	87,020,685 - 87,025,886 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	13	88,420,948 - 88,426,149 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	13	85,605,569 - 85,610,770 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	13	90,437,956 - 90,443,157 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	13	90,437,956 - 90,443,157 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	13	94,960,920 - 94,966,121 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	13	88,047,392 - 88,052,593 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	13	88,237,802 - 88,241,396 (-)	NCBI
Celera	13	84,129,141 - 84,134,342 (-)	NCBI		Celera
Cytogenetic Map	13	q24	NCBI

Nhlh1
(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_004955468	12,133,717 - 12,137,700 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955468	12,133,717 - 12,137,700 (+)	NCBI	ChiLan1.0	ChiLan1.0

NHLH1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	89,477,228 - 89,484,708 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	89,217,185 - 89,224,677 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	135,721,367 - 135,727,206 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	139,642,016 - 139,647,802 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	139,645,680 - 139,646,081 (+)	Ensembl	panpan1.1		panPan2

NHLH1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	38	21,867,603 - 21,868,942 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	38	21,941,576 - 21,942,304 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	38	21,984,336 - 21,985,064 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	38	21,984,366 - 21,984,761 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	38	21,889,193 - 21,889,921 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	38	22,285,703 - 22,286,431 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	38	22,695,487 - 22,696,215 (-)	NCBI		UU_Cfam_GSD_1.0

Nhlh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	6,475,928 - 6,481,294 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936740	274,395 - 278,419 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936740	273,294 - 278,419 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NHLH1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	90,109,057 - 90,109,458 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	90,107,243 - 90,116,068 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	97,999,109 - 98,011,523 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NHLH1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	3,576,519 - 3,582,427 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	3,578,227 - 3,578,628 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	2,634,274 - 2,637,372 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nhlh1
(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_004624794	896,557 - 896,958 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624794	896,416 - 900,669 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in NHLH1
8 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	copy number loss	See cases [RCV000051172]	Chr1:159479887..166895086 [GRCh38] Chr1:159449677..166864323 [GRCh37] Chr1:157716301..165130947 [NCBI36] Chr1:1q23.2-24.1	pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	copy number gain	See cases [RCV000051854]	Chr1:157747246..176021247 [GRCh38] Chr1:157717036..175990383 [GRCh37] Chr1:155983660..174257006 [NCBI36] Chr1:1q23.1-25.1	pathogenic
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]\|See cases [RCV000051851]	Chr1:156664483..160727411 [GRCh38] Chr1:156634275..160697201 [GRCh37] Chr1:154900899..158963825 [NCBI36] Chr1:1q23.1-23.3	pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	copy number gain	See cases [RCV000143515]	Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2	pathogenic
NM_001098398.1(COPA):c.470A>C (p.Gln157Pro)	single nucleotide variant	Malignant melanoma [RCV000059957]	Chr1:160332474 [GRCh38] Chr1:160302264 [GRCh37] Chr1:158568888 [NCBI36] Chr1:1q23.2	not provided
NM_001098398.1(COPA):c.318C>T (p.Pro106=)	single nucleotide variant	Malignant melanoma [RCV000064254]	Chr1:160333671 [GRCh38] Chr1:160303461 [GRCh37] Chr1:158570085 [NCBI36] Chr1:1q23.2	not provided
NM_015331.2(NCSTN):c.1166C>T (p.Ser389Phe)	single nucleotide variant	Malignant melanoma [RCV000064255]	Chr1:160353224 [GRCh38] Chr1:160323014 [GRCh37] Chr1:158589638 [NCBI36] Chr1:1q23.2	not provided
NM_001098398.1(COPA):c.497-2810C>T	single nucleotide variant	Lung cancer [RCV000089834]	Chr1:160328462 [GRCh38] Chr1:160298252 [GRCh37] Chr1:1q23.2	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1	copy number loss	not provided [RCV000736717]	Chr1:159815642..177026983 [GRCh37] Chr1:1q23.2-25.2	pathogenic
GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	copy number gain	not provided [RCV000846649]	Chr1:159808188..161011163 [GRCh37] Chr1:1q23.2-23.3	uncertain significance
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	copy number loss	not provided [RCV000848773]	Chr1:157321299..167391423 [GRCh37] Chr1:1q23.1-24.2	pathogenic
NM_005598.4(NHLH1):c.106G>A (p.Gly36Arg)	single nucleotide variant	not provided [RCV004598934]	Chr1:160370837 [GRCh38] Chr1:160340627 [GRCh37] Chr1:1q23.2	uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup	duplication	Gastrointestinal stromal tumor [RCV001300221]\|Parathyroid carcinoma [RCV001341077]	Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44	uncertain significance
NC_000001.10:g.(?_158581054)_(162750036_?)dup	duplication	Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]\|not provided [RCV001918953]	Chr1:158581054..162750036 [GRCh37] Chr1:1q23.1-23.3	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	copy number gain	not provided [RCV002474924]	Chr1:159778364..160770515 [GRCh37] Chr1:1q23.2-23.3	uncertain significance
NM_005598.4(NHLH1):c.206G>C (p.Arg69Pro)	single nucleotide variant	not specified [RCV004239906]	Chr1:160370937 [GRCh38] Chr1:160340727 [GRCh37] Chr1:1q23.2	uncertain significance
NM_005598.4(NHLH1):c.388G>A (p.Val130Met)	single nucleotide variant	not specified [RCV004157532]	Chr1:160371119 [GRCh38] Chr1:160340909 [GRCh37] Chr1:1q23.2	uncertain significance
NM_005598.4(NHLH1):c.152G>C (p.Gly51Ala)	single nucleotide variant	not specified [RCV004184159]	Chr1:160370883 [GRCh38] Chr1:160340673 [GRCh37] Chr1:1q23.2	uncertain significance
NM_005598.4(NHLH1):c.124G>A (p.Gly42Arg)	single nucleotide variant	not specified [RCV004099480]	Chr1:160370855 [GRCh38] Chr1:160340645 [GRCh37] Chr1:1q23.2	uncertain significance
NM_005598.4(NHLH1):c.221C>G (p.Ala74Gly)	single nucleotide variant	not specified [RCV004268875]	Chr1:160370952 [GRCh38] Chr1:160340742 [GRCh37] Chr1:1q23.2	uncertain significance
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	copy number loss	not provided [RCV003483944]	Chr1:158001058..162858285 [GRCh37] Chr1:1q23.1-23.3	likely pathogenic
NM_005598.4(NHLH1):c.85G>A (p.Gly29Arg)	single nucleotide variant	not specified [RCV004490546]	Chr1:160370816 [GRCh38] Chr1:160340606 [GRCh37] Chr1:1q23.2	uncertain significance
NM_005598.4(NHLH1):c.301C>A (p.Leu101Met)	single nucleotide variant	not specified [RCV004643652]	Chr1:160371032 [GRCh38] Chr1:160340822 [GRCh37] Chr1:1q23.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	1051
Count of miRNA genes:	641
Interacting mature miRNAs:	696
Transcripts:	ENST00000302101
Prediction methods:	Miranda, Rnahybrid
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1357381	BW57_H	Body weight QTL 57 (human)	1	0.0001	Body weight	fat free mass after exercise training	1	140630236	166630236	Human
597273313	GWAS1369387_H	schizophrenia QTL GWAS1369387 (human)		0.000006	schizophrenia		1	160372086	160372087	Human

RH93953

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	160,342,428 - 160,342,556	UniSTS	GRCh37
Build 36	1	158,609,052 - 158,609,180	RGD	NCBI36
Celera	1	133,411,186 - 133,411,314	RGD
Cytogenetic Map	1	q22	UniSTS
HuRef	1	131,698,569 - 131,698,697	UniSTS
GeneMap99-GB4 RH Map	1	584.71	UniSTS

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	renal system	reproductive system	respiratory system	sensory system	visual system
1195	2375	2760	2136	4947	1642	2230	4	563	1907	405	2261	6945	6264	52	3716	760	1695	1568	171	1


RefSeq Transcripts	NM_005598	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK313700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL445230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL513282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT006859	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA612092	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M96739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M97507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000302101 ⟹ ENSP00000302189

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	160,367,071 - 160,372,846 (+)	Ensembl

RefSeq Acc Id:

NM_005598 ⟹ NP_005589

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	160,367,071 - 160,372,846 (+)	NCBI
GRCh37	1	160,336,861 - 160,342,638 (+)	RGD
Build 36	1	158,603,498 - 158,609,229 (+)	NCBI Archive
Celera	1	133,405,619 - 133,411,396 (+)	RGD
HuRef	1	131,693,002 - 131,698,779 (+)	ENTREZGENE
CHM1_1	1	161,732,200 - 161,737,981 (+)	NCBI
T2T-CHM13v2.0	1	159,504,143 - 159,509,918 (+)	NCBI

Sequence:

show sequence

GTGTGTGTCTGAGGGTGTGTGTGTGAGTGTGGCTGGCCCCAGTACCTGGCCAAGCCCACCACTTCCACCTGGGCCCTACACCCCCACAATGTGTACCCCTCTTATCTGCCCTGGAGCCTGTACAGCCA
TGCCACGCTACCCCTGAGAGTCTAGAAAGCTGGTCACTAACTTTGCAGACGGATGAGCCTTGAGCACCCAGAGGAGACTGGGGCTGTCAACGCTGCCCCTTGTCCTGCCGGCTTGGATCCCCTGACAG
GGTCCTTCTAGGCTTCAGACTGGCACCCTGACCATGGAACCCTGAAGTGGCAGTGACTTCTAGAGCTCAGTGGCAGACCCCACGACCCTTCCTCCCCCTTCCTCCCCCTCCCACCACCAGCTTTCAAG
CTCCCAGAGGGAGGGGTGGGGAGGGGATCCTGATCTCACAGGGCAGGGGGCTTCCATCATGATGCTCAACTCAGACACCATGGAGCTGGACCTGCCGCCCACCCACTCAGAGACTGAGTCGGGCTTCA
GTGACTGTGGGGGCGGGGCGGGCCCTGATGGTGCCGGGCCTGGGGGTCCGGGAGGGGGCCAGGCCCGAGGCCCAGAGCCGGGAGAGCCTGGCCGGAAAGACCTGCAGCATCTGAGCCGCGAGGAGCGC
CGGCGCCGGCGCCGCGCCACAGCCAAGTACCGCACGGCCCACGCCACGCGAGAACGCATCCGCGTGGAAGCCTTCAACCTGGCCTTCGCCGAGCTGCGCAAGCTGCTGCCTACGCTGCCCCCCGACAA
GAAGCTCTCCAAGATTGAGATTCTGCGCCTGGCCATCTGCTATATCTCCTACCTGAACCACGTGCTGGACGTCTGAACTCAGCCTGTCTCCCACCTCCCGGGCCTCTCTGGGGCCCCTTTCCACCGCT
CACTGCTTAGAAAGGCCGCATCCTCCCCGAGCCCTTATACCTTGGCATGGAGTCCCAAAGGCCCTGGGCACAGGCAGAGAGCCCACCGGCTGGTCATGAGGGCCTCTTCCTTTCTCTGACCCAGGCAC
CTCGAGGGCTATTCTCCTGGGTTCCTTCCGGGGTTTATTGCTGAGGCCCAGCTGTGCAGAATTGTTTGCTAGTGTGGTTGGTATGGAATCCTTGCTGGCTTTACTAAGCCAGCCACACTTGGAGTCTG
CCCCCAAGCTCTCTCACTGAATGCTGCCTCTTCTACCCCTATGTCCAAATTTTCAGCCACCACAGACCTCAGCTGTGTATCCTATCTGTTCTAGCTTCTCCTGCCCCTGGTGGGGATGGGCTGTCAGA
ATTGCAAGGGAGGAAGGCTGGGGTTAGAGTGGGGAGTGGGCTTCTTCCTCCAAGATCTCAGTCTCTCAGTGCTTGGCAGAGGGGTGAGGCCCTGGGGAGGCAGGGGTTGGTGCCCTGACTCCTGTGAG
GGGAATCTCAGTAGCTGGGAATTATGGAAAAACTCTTCCTGTTTCTGTCCATCTTGTTCCTGTGGCTTAGCACATACAGACCTCAGATCTTACTTGGTAGTGAGTGCCTTGCCCTCTTTGAGCTATTT
GGCTACTTCCCTGTCCCTCTGACTCCTACTGTCCCAATTTTCTCCCTCCCTGTGTGTCACTAGAGAAAAAAAAAAACAAAAACCTAGATTCCGGATTAGGGGATGACATCCCAAACAGCCCGGAGTAT
TTGCAGAAGGCTCAGGCAACGAGTGGGCCACATCTCACTTCTGCTTCCTCATCTCAGCCCACTCTGAAAATGTGCAGCACCCTCACTGGTTCCTCCCCCCAACGCAAGGAGGATGCCCAATTGTTGCC
CTCTGAAAATGCACAGTTCTCCTGGCCCTAGGACTTACTTATTACATTTTTTTCTCTTTCCTTGAGCTGCCTTTGGCAAGGGAAGAGACCCCCAACTCTGCGCCCCTACTCCATGCTGCTGATCCCCA
CCTGCGCACTATAGCTCAGGGTCAGCAGTGGAATGAAGGGCCTTAGAACCTGCATAGAAGAAATGAACTCACTGCATTTCTGTGCTCCCTCCTCCCTCGCACCAAACTCCTAGCTCTACAAGTATATT
TATTTATTTATTTATTTATTCATCTATTTATTTACTTATTTATTTATTTATAAATATTGCTATTTATTGCCGAGTTGTGCACTTTGGGGTAGAGTGAGGGGCTCCCAGCAGCTCTAGCTGGGTCTCTC
TTGCTTCCTCCCTGCTTACGCCTTTCCTTTTCTTGCTCCTTCTTCAACTCCTGGTGTGTGTGAGCATGCCCTTTGCTTGCCACACCATATCCTTTCCCCAGATCCACCTGTCCTGACACTCTAGTCCT
CCAGGATAGTGCTCCTCCCCCAGCTCCAGGGCTCCTGGATGTCCTTCCTCAACTCCCTCCACCCCTAGACAATCCTACCTGGTCCCATCTGCCTCTTTTCTCTCCCCAGCCTGCCCTGTGACCCTTGC
CTCTTCCTGATACTCCCAAGAGCAGGCCCCAGGGGTCTGTGTCACATATCTCTGTGTGATTCCTTCTGGTTGCATCCCCAATTTCATACAAAAAGAAAAATAAAAGTGACCTCGTTCTAGCACCA

hide sequence


Protein RefSeqs	NP_005589	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA58634	(Get FASTA)	NCBI Sequence Viewer
	AAH13789	(Get FASTA)	NCBI Sequence Viewer
	AAP35505	(Get FASTA)	NCBI Sequence Viewer
	BAG36446	(Get FASTA)	NCBI Sequence Viewer
	EAW52719	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000302189
	ENSP00000302189.5
GenBank Protein	Q02575	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_005589 ⟸ NM_005598
- UniProtKB:	Q02575 (UniProtKB/Swiss-Prot), Q5T203 (UniProtKB/TrEMBL)
- Sequence:	show sequence MMLNSDTMELDLPPTHSETESGFSDCGGGAGPDGAGPGGPGGGQARGPEPGEPGRKDLQHLSREERRRRRRATAKYRTAHATRERIRVEAFNLAFAELRKLLPTLPPDKKLSKIEILRLAICYISYLN HVLDV hide sequence

Ensembl Acc Id:

ENSP00000302189 ⟸ ENST00000302101

Protein Domains

bHLH

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q02575-F1-model_v2	AlphaFold	Q02575	1-133	view protein structure

RGD ID:

6786131

Promoter ID:

HG_KWN:5769

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

OTTHUMT00000080676

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	158,603,256 - 158,603,756 (+)	MPROMDB

RGD ID:

6857796

Promoter ID:

EPDNEW_H2063

Type:

multiple initiation site

Name:

NHLH1_1

Description:

nescient helix-loop-helix 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	1	160,367,071 - 160,367,131	EPDNEW

Database	Acc Id	Source(s)
COSMIC	NHLH1	COSMIC
Ensembl Genes	ENSG00000171786	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000302101	ENTREZGENE
	ENST00000302101.6	UniProtKB/Swiss-Prot
Gene3D-CATH	4.10.280.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000171786	GTEx
HGNC ID	HGNC:7817	ENTREZGENE
Human Proteome Map	NHLH1	Human Proteome Map
InterPro	bHLH_dom	UniProtKB/Swiss-Prot
	HLH_DNA-bd_sf	UniProtKB/Swiss-Prot
	TAL-like	UniProtKB/Swiss-Prot
KEGG Report	hsa:4807	UniProtKB/Swiss-Prot
NCBI Gene	4807	ENTREZGENE
OMIM	162360	OMIM
PANTHER	HELIX-LOOP-HELIX PROTEIN 1	UniProtKB/Swiss-Prot
	PTHR13864	UniProtKB/Swiss-Prot
Pfam	HLH	UniProtKB/Swiss-Prot
PharmGKB	PA31619	PharmGKB
PROSITE	BHLH	UniProtKB/Swiss-Prot
SMART	HLH	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47459	UniProtKB/Swiss-Prot
UniProt	HEN1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q5T203	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-17	NHLH1	nescient helix-loop-helix 1	NHLH1	nescient helix loop helix 1	Symbol and/or name change	5135510	APPROVED

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


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


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

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

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar