KEGG   Homo sapiens (human): 4760Help
Entry
4760              CDS       T01001                                 

Gene name
NEUROD1, BETA2, BHF-1, MODY6, NEUROD, bHLHa3
Definition
(RefSeq) neuronal differentiation 1
  KO
K08033  neurogenic differentiation factor 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04950  Maturity onset diabetes of the young
Disease
H00410  Maturity onset diabetes of the young (MODY)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Endocrine and metabolic diseases
   04950 Maturity onset diabetes of the young
    4760 (NEUROD1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    4760 (NEUROD1)
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Basic helix-loop-helix (bHLH)
   Tal/Twist/Atonal/Hen, Atonal
    4760 (NEUROD1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Neuro_bHLH HLH YL1 Nop14 CDC45 Nop53 DUF1510
Motif
Other DBs
NCBI-GeneID: 4760
NCBI-ProteinID: NP_002491
OMIM: 601724
HGNC: 7762
Ensembl: ENSG00000162992
Vega: OTTHUMG00000132583
Pharos: Q13562(Tbio)
UniProt: Q13562
Position
2q31.3
AA seq 356 aa AA seqDB search
MTKSYSESGLMGEPQPQGPPSWTDECLSSQDEEHEADKKEDDLEAMNAEEDSLRNGGEEE
DEDEDLEEEEEEEEEDDDQKPKRRGPKKKKMTKARLERFKLRRMKANARERNRMHGLNAA
LDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSGKSPDLVSFVQTLCKGLSQPT
TNLVAGCLQLNPRTFLPEQNQDMPPHLPTASASFPVHPYSYQSPGLPSPPYGTMDSSHVF
HVKPPPHAYSAALEPFFESPLTDCTSPSFDGPLSPPLSINGNFSFKHEPSAEFEKNYAFT
MHYPAATLAGAQSHGSIFSGTAAPRCEIPIDNIMSFDSHSHHERVMSAQLNAIFHD
NT seq 1071 nt NT seq  +upstreamnt  +downstreamnt
atgaccaaatcgtacagcgagagtgggctgatgggcgagcctcagccccaaggtcctcca
agctggacagacgagtgtctcagttctcaggacgaggagcacgaggcagacaagaaggag
gacgacctcgaagccatgaacgcagaggaggactcactgaggaacgggggagaggaggag
gacgaagatgaggacctggaagaggaggaagaagaggaagaggaggatgacgatcaaaag
cccaagagacgcggccccaaaaagaagaagatgactaaggctcgcctggagcgttttaaa
ttgagacgcatgaaggctaacgcccgggagcggaaccgcatgcacggactgaacgcggcg
ctagacaacctgcgcaaggtggtgccttgctattctaagacgcagaagctgtccaaaatc
gagactctgcgcttggccaagaactacatctgggctctgtcggagatcctgcgctcaggc
aaaagcccagacctggtctccttcgttcagacgctttgcaagggcttatcccaacccacc
accaacctggttgcgggctgcctgcaactcaatcctcggacttttctgcctgagcagaac
caggacatgcccccccacctgccgacggccagcgcttccttccctgtacacccctactcc
taccagtcgcctgggctgcccagtccgccttacggtaccatggacagctcccatgtcttc
cacgttaagcctccgccgcacgcctacagcgcagcgctggagcccttctttgaaagccct
ctgactgattgcaccagcccttcctttgatggacccctcagcccgccgctcagcatcaat
ggcaacttctctttcaaacacgaaccgtccgccgagtttgagaaaaattatgcctttacc
atgcactatcctgcagcgacactggcaggggcccaaagccacggatcaatcttctcaggc
accgctgcccctcgctgcgagatccccatagacaatattatgtccttcgatagccattca
catcatgagcgagtcatgagtgcccagctcaatgccatatttcatgattag

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