Human Gene NHLH1 (ENST00000302101.6_4) from GENCODE V47lift37

JavaScript is disabled in your web browser

You must have JavaScript enabled in your web browser to use the Genome Browser

Description: nescient helix-loop-helix 1 (from RefSeq NM_005598.4)
Gencode Transcript: ENST00000302101.6_4
Gencode Gene: ENSG00000171786.6_7
Transcript (Including UTRs)
Position: hg19 chr1:160,336,861-160,342,636 Size: 5,776 Total Exon Count: 2 Strand: +
Coding Region
Position: hg19 chr1:160,340,522-160,340,923 Size: 402 Coding Exon Count: 1

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr1:160,336,861-160,342,636)			mRNA (may differ from genome)		Protein (133 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: Q5T203_HUMAN DESCRIPTION: SubName: Full=Nescient helix loop helix 1; SubName: Full=cDNA, FLJ94293, Homo sapiens nescient helix loop helix 1 (NHLH1), mRNA; SIMILARITY: Contains 1 basic helix-loop-helix (bHLH) domain.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: NHLH1 Diseases sorted by gene-association score: cleft palate, isolated (3), orofacial cleft (2), physical disorder (2), cleft lip/palate-ectodermal dysplasia syndrome (2), neuroblastoma (1), popliteal pterygium syndrome 1 (1), split-hand/foot malformation 4 (1), parkinson disease 15, autosomal recessive (1)

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene C009505 4,4'-diaminodiphenylmethane D008070 Lipopolysaccharides D009151 Mustard Gas D012999 Soman C006253 pirinixic acid

Common Gene Haplotype Alleles


	Press "+" in the title bar above to open this section.

RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 1.41 RPKM in Brain - Caudate (basal ganglia) Total median expression: 14.56 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


	Press "+" in the title bar above to open this section.

mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-177.00	442	-0.400	Picture	PostScript	Text
3' UTR	-555.70	1713	-0.324	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q5T203


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details		Gene Details
Gene Sorter	Gene Sorter		Gene Sorter
	RGD

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0005515 protein binding GO:0046983 protein dimerization activity

Descriptions from all associated GenBank mRNAs


	M96739 - Human NSCL-1 mRNA sequence. AK313700 - Homo sapiens cDNA, FLJ94293, Homo sapiens nescient helix loop helix 1 (NHLH1), mRNA. BC013789 - Homo sapiens nescient helix loop helix 1, mRNA (cDNA clone MGC:17696 IMAGE:3866861), complete cds. JD347574 - Sequence 328598 from Patent EP1572962. JD188770 - Sequence 169794 from Patent EP1572962. JD402080 - Sequence 383104 from Patent EP1572962. JD510608 - Sequence 491632 from Patent EP1572962. JD330290 - Sequence 311314 from Patent EP1572962. JD544208 - Sequence 525232 from Patent EP1572962. JD171010 - Sequence 152034 from Patent EP1572962. JD137745 - Sequence 118769 from Patent EP1572962. JD397636 - Sequence 378660 from Patent EP1572962. JD155172 - Sequence 136196 from Patent EP1572962. GQ129357 - Synthetic construct Homo sapiens clone HAIB:100068689; DKFZo004E0336 nescient helix loop helix 1 protein (NHLH1) gene, partial cds. GQ129358 - Synthetic construct Homo sapiens clone HAIB:100068592; DKFZo008E0335 nescient helix loop helix 1 protein (NHLH1) gene, complete cds. AB464629 - Synthetic construct DNA, clone: pF1KB9625, Homo sapiens NHLH1 gene for nescient helix loop helix 1, without stop codon, in Flexi system. KJ891702 - Synthetic construct Homo sapiens clone ccsbBroadEn_01096 NHLH1 gene, encodes complete protein. BT006859 - Homo sapiens nescient helix loop helix 1 mRNA, complete cds. JD420575 - Sequence 401599 from Patent EP1572962. JD174049 - Sequence 155073 from Patent EP1572962. JD044926 - Sequence 25950 from Patent EP1572962. JD521909 - Sequence 502933 from Patent EP1572962. JD373684 - Sequence 354708 from Patent EP1572962. JD240553 - Sequence 221577 from Patent EP1572962. JD419865 - Sequence 400889 from Patent EP1572962. JD171923 - Sequence 152947 from Patent EP1572962. JD411547 - Sequence 392571 from Patent EP1572962. JD131169 - Sequence 112193 from Patent EP1572962. JD371055 - Sequence 352079 from Patent EP1572962. JD414630 - Sequence 395654 from Patent EP1572962. JD102998 - Sequence 84022 from Patent EP1572962. JD342059 - Sequence 323083 from Patent EP1572962. JD551708 - Sequence 532732 from Patent EP1572962. JD251028 - Sequence 232052 from Patent EP1572962. JD066180 - Sequence 47204 from Patent EP1572962. JD475873 - Sequence 456897 from Patent EP1572962. JD192891 - Sequence 173915 from Patent EP1572962. JD496104 - Sequence 477128 from Patent EP1572962. JD214759 - Sequence 195783 from Patent EP1572962. JD451243 - Sequence 432267 from Patent EP1572962. JD294883 - Sequence 275907 from Patent EP1572962. JD358989 - Sequence 340013 from Patent EP1572962. JD493583 - Sequence 474607 from Patent EP1572962. JD183589 - Sequence 164613 from Patent EP1572962. JD052453 - Sequence 33477 from Patent EP1572962. JD273484 - Sequence 254508 from Patent EP1572962. JD253810 - Sequence 234834 from Patent EP1572962. JD415912 - Sequence 396936 from Patent EP1572962. JD290486 - Sequence 271510 from Patent EP1572962. JD124355 - Sequence 105379 from Patent EP1572962. JD219474 - Sequence 200498 from Patent EP1572962. JD305123 - Sequence 286147 from Patent EP1572962. JD087544 - Sequence 68568 from Patent EP1572962. JD467752 - Sequence 448776 from Patent EP1572962. JD556775 - Sequence 537799 from Patent EP1572962. JD333883 - Sequence 314907 from Patent EP1572962. JD130396 - Sequence 111420 from Patent EP1572962. JD376969 - Sequence 357993 from Patent EP1572962. JD261050 - Sequence 242074 from Patent EP1572962. JD254940 - Sequence 235964 from Patent EP1572962.

Other Names for This Gene


	Alternate Gene Symbols: ENST00000302101.1, ENST00000302101.2, ENST00000302101.3, ENST00000302101.4, ENST00000302101.5, hCG_20859 , NHLH1 , NM_005598, Q5T203, Q5T203_HUMAN, uc317myq.1, uc317myq.2 UCSC ID: ENST00000302101.6_4 RefSeq Accession: NM_005598.4 Protein: Q5T203

Gene Model Information


	Click here for a detailed description of the fields of the table above.

Methods, Credits, and Use Restrictions


	Click here for details on how this gene model was made and data restrictions if any.