KEGG   Homo sapiens (human): 429
Entry
429               CDS       T01001                                 
Symbol
ASCL1, ASH1, HASH1, MASH1, bHLHa46
Name
(RefSeq) achaete-scute family bHLH transcription factor 1
  KO
K09067  achaete-scute complex protein
Organism
hsa  Homo sapiens (human)
Disease
H00916  Congenital central hypoventilation syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    429 (ASCL1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix (bHLH)
   Achaete-Scute
    429 (ASCL1)
SSDB
Motif
Pfam: HLH DUF6491 Cas9-BH TFIIA
Other DBs
NCBI-GeneID: 429
NCBI-ProteinID: NP_004307
OMIM: 100790
HGNC: 738
Ensembl: ENSG00000139352
UniProt: P50553
Position
12:102957674..102960513
AA seq 236 aa
MESSAKMESGGAGQQPQPQPQQPFLPPAACFFATAAAAAAAAAAAAAQSAQQQQQQQQQQ
QQAPQLRPAADGQPSGGGHKSAPKQVKRQRSSSPELMRCKRRLNFSGFGYSLPQQQPAAV
ARRNERERNRVKLVNLGFATLREHVPNGAANKKMSKVETLRSAVEYIRALQQLLDEHDAV
SAAFQAGVLSPTISPNYSNDLNSMAGSPVSSYSSDEGSYDPLSPEEQELLDFTNWF
NT seq 711 nt   +upstreamnt  +downstreamnt
atggaaagctctgccaagatggagagcggcggcgccggccagcagccccagccgcagccc
cagcagcccttcctgccgcccgcagcctgtttctttgccacggccgcagccgcggcggcc
gcagccgccgcagcggcagcgcagagcgcgcagcagcagcagcagcagcagcagcagcag
cagcaggcgccgcagctgagaccggcggccgacggccagccctcagggggcggtcacaag
tcagcgcccaagcaagtcaagcgacagcgctcgtcttcgcccgaactgatgcgctgcaaa
cgccggctcaacttcagcggctttggctacagcctgccgcagcagcagccggccgccgtg
gcgcgccgcaacgagcgcgagcgcaaccgcgtcaagttggtcaacctgggctttgccacc
cttcgggagcacgtccccaacggcgcggccaacaagaagatgagtaaggtggagacactg
cgctcggcggtcgagtacatccgcgcgctgcagcagctgctggacgagcatgacgcggtg
agcgccgccttccaggcaggcgtcctgtcgcccaccatctcccccaactactccaacgac
ttgaactccatggccggctcgccggtctcatcctactcgtcggacgagggctcttacgac
ccgctcagccccgaggagcaggagcttctcgacttcaccaactggttctga

  All links  
Disease (1)   
   OMIM (1)   
Gene (12)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (23)   
   RefSeq(nuc) (1)   
   GenBank (11)   
   EMBL (11)   
Protein domain (4)   
   Pfam (4)   
All databases (43)   

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