Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	4807
Gene name	Nescient helix-loop-helix 1
Gene symbol	NHLH1
Synonyms (NCBI Gene)	HEN1NSCLNSCL1bHLHa35
Chromosome	1
Chromosome location	1q23.2
Summary	The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly i

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miRTarBase ID	miRNA	Experiments
MIRT1184263	hsa-miR-124	CLIP-seq
MIRT1184264	hsa-miR-1538	CLIP-seq
MIRT1184265	hsa-miR-185	CLIP-seq
MIRT1184266	hsa-miR-297	CLIP-seq
MIRT1184267	hsa-miR-3127-5p	CLIP-seq
MIRT1184268	hsa-miR-3150a-3p	CLIP-seq
MIRT1184269	hsa-miR-3156-5p	CLIP-seq
MIRT1184270	hsa-miR-3175	CLIP-seq
MIRT1184271	hsa-miR-3200-5p	CLIP-seq
MIRT1184272	hsa-miR-3680	CLIP-seq
MIRT1184273	hsa-miR-3689d	CLIP-seq
MIRT1184274	hsa-miR-3918	CLIP-seq
MIRT1184275	hsa-miR-3919	CLIP-seq
MIRT1184276	hsa-miR-3929	CLIP-seq
MIRT1184277	hsa-miR-4306	CLIP-seq
MIRT1184278	hsa-miR-432	CLIP-seq
MIRT1184279	hsa-miR-4419b	CLIP-seq
MIRT1184280	hsa-miR-4433	CLIP-seq
MIRT1184281	hsa-miR-4436b-3p	CLIP-seq
MIRT1184282	hsa-miR-4438	CLIP-seq
MIRT1184283	hsa-miR-4478	CLIP-seq
MIRT1184284	hsa-miR-4499	CLIP-seq
MIRT1184285	hsa-miR-4505	CLIP-seq
MIRT1184286	hsa-miR-4644	CLIP-seq
MIRT1184287	hsa-miR-4649-3p	CLIP-seq
MIRT1184288	hsa-miR-4667-5p	CLIP-seq
MIRT1184289	hsa-miR-4700-5p	CLIP-seq
MIRT1184290	hsa-miR-4708-3p	CLIP-seq
MIRT1184291	hsa-miR-4731-5p	CLIP-seq
MIRT1184292	hsa-miR-4742-3p	CLIP-seq
MIRT1184293	hsa-miR-4745-3p	CLIP-seq
MIRT1184294	hsa-miR-4756-3p	CLIP-seq
MIRT1184295	hsa-miR-506	CLIP-seq
MIRT1184296	hsa-miR-513a-5p	CLIP-seq
MIRT1184297	hsa-miR-567	CLIP-seq
MIRT1184298	hsa-miR-583	CLIP-seq
MIRT1184299	hsa-miR-661	CLIP-seq
MIRT1184300	hsa-miR-939	CLIP-seq
MIRT1921785	hsa-miR-1251	CLIP-seq
MIRT1921786	hsa-miR-4464	CLIP-seq
MIRT1921787	hsa-miR-4684-5p	CLIP-seq
MIRT1921788	hsa-miR-4748	CLIP-seq
MIRT1921789	hsa-miR-4768-5p	CLIP-seq
MIRT1921785	hsa-miR-1251	CLIP-seq
MIRT1921787	hsa-miR-4684-5p	CLIP-seq
MIRT1921789	hsa-miR-4768-5p	CLIP-seq
MIRT1184268	hsa-miR-3150a-3p	CLIP-seq
MIRT1184270	hsa-miR-3175	CLIP-seq
MIRT1184281	hsa-miR-4436b-3p	CLIP-seq
MIRT1184285	hsa-miR-4505	CLIP-seq
MIRT1184288	hsa-miR-4667-5p	CLIP-seq
MIRT1184289	hsa-miR-4700-5p	CLIP-seq
MIRT1184291	hsa-miR-4731-5p	CLIP-seq
MIRT1184296	hsa-miR-513a-5p	CLIP-seq
MIRT1184300	hsa-miR-939	CLIP-seq
MIRT2282662	hsa-miR-3928	CLIP-seq
MIRT1921786	hsa-miR-4464	CLIP-seq
MIRT1921788	hsa-miR-4748	CLIP-seq
MIRT2455141	hsa-miR-1915	CLIP-seq
MIRT2455142	hsa-miR-2355-5p	CLIP-seq
MIRT1184274	hsa-miR-3918	CLIP-seq
MIRT2455143	hsa-miR-4512	CLIP-seq
MIRT2455144	hsa-miR-4685-5p	CLIP-seq
MIRT2455141	hsa-miR-1915	CLIP-seq
MIRT2455142	hsa-miR-2355-5p	CLIP-seq
MIRT1184274	hsa-miR-3918	CLIP-seq
MIRT2455143	hsa-miR-4512	CLIP-seq
MIRT2455144	hsa-miR-4685-5p	CLIP-seq
MIRT2580654	hsa-miR-4727-5p	CLIP-seq
MIRT2580655	hsa-miR-4769-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	12878195
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	12878195
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	TAS	1328219
GO:0030154	Process	Cell differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12878195
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
162360	7817	ENSG00000171786

Q02575

Protein name

Helix-loop-helix protein 1 (HEN-1) (Class A basic helix-loop-helix protein 35) (bHLHa35) (Nescient helix loop helix 1) (NSCL-1)

Protein function

May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	76 → 128	Helix-loop-helix DNA-binding domain	Domain

Sequence

MMLNSDTMELDLPPTHSETESGFSDCGGGAGPDGAGPGGPGGGQARGPEPGEPGRKDLQH
LSREERRRRRRATAKYRTAHATRERIRVEAFNLAFAELRKLLPTLPPDKKLSKIEILRLA
ICYISYLNHVLDV

Sequence length

133

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	10549031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	18231642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29688589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	18231642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	23385809, 25953455, 26198054, 26795696, 31132300, 31337262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental reading disorder	Developmental dyslexia	BEFREE	27734840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	22978696, 23008150, 23385809, 23679094, 25163644, 25220223, 25953455, 26198054, 26505415, 27154735, 28019042, 28096450, 28133786, 28402597, 28817352 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	18209213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29688589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23776525, 24838934, 26795696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	18231642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	1528853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	1690210, 31295576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	BEFREE	23394314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	1528853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	25243493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	36935366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	19938073, 20526256, 21981552, 27328068, 30355643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21483740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	11746036, 23394314		★★★★★ ★☆☆☆☆ Found in Text Mining only

NHLH1 (nescient helix-loop-helix 1)