NEUROG1 (neurogenin 1) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NEUROG1 (neurogenin 1) Homo sapiens
Analyze
Symbol: NEUROG1
Name: neurogenin 1
RGD ID: 1352814
HGNC Page HGNC
Description: Exhibits E-box binding activity and protein homodimerization activity. Involved in several processes, including animal organ morphogenesis; cranial nerve development; and hard palate morphogenesis. Predicted to localize to chromatin; neuronal cell body; and nucleus; INTERACTS WITH 1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane; all-trans-retinoic acid; arsane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AKA; bHLHa6; class A basic helix-loop-helix protein 6; Math4C; NEUROD3; neurogenic basic-helix-loop-helix protein; neurogenic differentiation 3; neurogenic differentiation factor 3; neurogenin-1; NGN-1; ngn1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5135,534,282 - 135,535,964 (-)EnsemblGRCh38hg38GRCh38
GRCh385135,534,282 - 135,535,964 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375134,869,972 - 134,871,654 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365134,897,871 - 134,899,538 (-)NCBINCBI36hg18NCBI36
Build 345134,897,872 - 134,899,538NCBI
Celera5130,993,709 - 130,995,376 (-)NCBI
Cytogenetic Map5q31.1NCBI
HuRef5130,057,578 - 130,059,245 (-)NCBIHuRef
CHM1_15134,302,579 - 134,304,246 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8816493   PMID:9119405   PMID:11239394   PMID:11732772   PMID:12477932   PMID:12526089   PMID:15489334   PMID:17044100   PMID:18053270   PMID:18799289   PMID:19086053   PMID:19274049  
PMID:19813087   PMID:20102160   PMID:20211142   PMID:21326223   PMID:21697133   PMID:21873635   PMID:23034738   PMID:23419067   PMID:25403753   PMID:25416956   PMID:26634621   PMID:27423984  
PMID:28473536   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
NEUROG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5135,534,282 - 135,535,964 (-)EnsemblGRCh38hg38GRCh38
GRCh385135,534,282 - 135,535,964 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375134,869,972 - 134,871,654 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365134,897,871 - 134,899,538 (-)NCBINCBI36hg18NCBI36
Build 345134,897,872 - 134,899,538NCBI
Celera5130,993,709 - 130,995,376 (-)NCBI
Cytogenetic Map5q31.1NCBI
HuRef5130,057,578 - 130,059,245 (-)NCBIHuRef
CHM1_15134,302,579 - 134,304,246 (-)NCBICHM1_1
Neurog1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391356,398,291 - 56,399,993 (-)NCBIGRCm39mm39
GRCm39 Ensembl1356,398,291 - 56,399,976 (-)Ensembl
GRCm381356,250,478 - 56,252,180 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1356,250,478 - 56,252,163 (-)EnsemblGRCm38mm10GRCm38
MGSCv371356,351,853 - 56,353,524 (-)NCBIGRCm37mm9NCBIm37
MGSCv361356,260,114 - 56,261,785 (-)NCBImm8
Celera1357,309,341 - 57,311,011 (-)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1330.06NCBI
Neurog1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2178,362,878 - 8,364,397 (+)NCBI
Rnor_6.0 Ensembl179,154,656 - 9,156,175 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0179,154,656 - 9,156,175 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01711,315,715 - 11,317,234 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41714,332,636 - 14,334,155 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11714,332,635 - 14,334,155 (+)NCBI
Celera178,450,050 - 8,451,569 (+)NCBICelera
Cytogenetic Map17p14NCBI
Neurog1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540830,694,496 - 30,695,221 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540830,693,893 - 30,695,453 (-)NCBIChiLan1.0ChiLan1.0
NEUROG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15137,063,644 - 137,065,317 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5137,064,339 - 137,065,052 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05130,922,727 - 130,924,403 (-)NCBIMhudiblu_PPA_v0panPan3
NEUROG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11123,563,128 - 23,564,819 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1123,563,803 - 23,564,543 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1122,312,360 - 22,313,631 (-)NCBI
ROS_Cfam_1.01124,380,274 - 24,381,545 (-)NCBI
UMICH_Zoey_3.11123,068,344 - 23,069,618 (-)NCBI
UNSW_CanFamBas_1.01122,934,051 - 22,935,328 (-)NCBI
UU_Cfam_GSD_1.01123,584,107 - 23,585,387 (-)NCBI
Neurog1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_024407213123,683,081 - 123,684,853 (-)NCBI
SpeTri2.0NW_0049365972,708,001 - 2,709,702 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEUROG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2137,765,942 - 137,766,682 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12137,763,091 - 137,766,787 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22143,226,166 - 143,226,906 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NEUROG1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12338,318,432 - 38,320,099 (-)NCBI
ChlSab1.1 Ensembl2338,319,121 - 38,319,834 (-)Ensembl
Neurog1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473311,497,872 - 11,499,957 (+)NCBI

Position Markers
RH80843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375134,870,428 - 134,870,629UniSTSGRCh37
Build 365134,898,327 - 134,898,528RGDNCBI36
Celera5130,994,165 - 130,994,366RGD
Cytogenetic Map5q23-q31UniSTS
HuRef5130,058,034 - 130,058,235UniSTS
GeneMap99-GB4 RH Map5512.48UniSTS
RH65308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375134,870,102 - 134,870,224UniSTSGRCh37
Build 365134,898,001 - 134,898,123RGDNCBI36
Celera5130,993,839 - 130,993,961RGD
Cytogenetic Map5q23-q31UniSTS
HuRef5130,057,708 - 130,057,830UniSTS
GeneMap99-GB4 RH Map5511.43UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:439
Count of miRNA genes:343
Interacting mature miRNAs:379
Transcripts:ENST00000314744
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage
High
Medium 1 13 3
Low 1 1 2 1 1 1 6 27 51 20 1 1 1 1
Below cutoff 911 1122 589 177 365 114 1882 1065 1845 55 638 491 63 494 1273

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000314744   ⟹   ENSP00000317580
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5135,534,282 - 135,535,964 (-)Ensembl
RefSeq Acc Id: NM_006161   ⟹   NP_006152
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385135,534,282 - 135,535,964 (-)NCBI
GRCh375134,869,972 - 134,871,639 (-)ENTREZGENE
Build 365134,897,871 - 134,899,538 (-)NCBI Archive
HuRef5130,057,578 - 130,059,245 (-)ENTREZGENE
CHM1_15134,302,579 - 134,304,246 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006152   ⟸   NM_006161
- UniProtKB: Q92886 (UniProtKB/Swiss-Prot),   F1T0H3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000317580   ⟸   ENST00000314744
Protein Domains
bHLH


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1 copy number loss See cases [RCV000052114] Chr5:133401565..138437038 [GRCh38]
Chr5:132737257..137772727 [GRCh37]
Chr5:132765156..137800626 [NCBI36]
Chr5:5q31.1-31.2
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 copy number gain See cases [RCV000133750] Chr5:135297294..140106003 [GRCh38]
Chr5:134632984..139485588 [GRCh37]
Chr5:134660883..139465772 [NCBI36]
Chr5:5q31.1-31.3
pathogenic
GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1 copy number loss See cases [RCV000135442] Chr5:131626503..135815054 [GRCh38]
Chr5:130962196..135150743 [GRCh37]
Chr5:130990095..135178642 [NCBI36]
Chr5:5q31.1
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1 copy number loss not provided [RCV000762739] Chr5:126377719..136270989 [GRCh37]
Chr5:5q23.2-31.2
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_006161.3(NEUROG1):c.101G>A (p.Arg34Lys) single nucleotide variant not provided [RCV000884415] Chr5:135535590 [GRCh38]
Chr5:134871280 [GRCh37]
Chr5:5q31.1
benign
NM_006161.3(NEUROG1):c.548C>A (p.Ala183Glu) single nucleotide variant not provided [RCV000894756] Chr5:135535143 [GRCh38]
Chr5:134870833 [GRCh37]
Chr5:5q31.1
benign
NM_006161.3(NEUROG1):c.141G>A (p.Pro47=) single nucleotide variant not provided [RCV000914512] Chr5:135535550 [GRCh38]
Chr5:134871240 [GRCh37]
Chr5:5q31.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7764 AgrOrtholog
COSMIC NEUROG1 COSMIC
Ensembl Genes ENSG00000181965 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000317580 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000314744 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000181965 GTEx
HGNC ID HGNC:7764 ENTREZGENE
Human Proteome Map NEUROG1 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ngn1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4762 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4762 ENTREZGENE
OMIM 601726 OMIM
PANTHER PTHR19290:SF130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31569 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F1T0H3 ENTREZGENE, UniProtKB/TrEMBL
  NGN1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5U0Q9 UniProtKB/Swiss-Prot
  Q96HE1 UniProtKB/Swiss-Prot