KEGG   Homo sapiens (human): 429Help
Entry
429               CDS       T01001                                 

Gene name
ASCL1, ASH1, HASH1, MASH1, bHLHa46
Definition
(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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: HLH TFIIA
Motif
Other DBs
NCBI-GeneID: 429
NCBI-ProteinID: NP_004307
OMIM: 100790
HGNC: 738
Ensembl: ENSG00000139352
Vega: OTTHUMG00000169967
Pharos: P50553(Tbio)
UniProt: P50553
Position
12q23.2
AA seq 236 aa AA seqDB search
MESSAKMESGGAGQQPQPQPQQPFLPPAACFFATAAAAAAAAAAAAAQSAQQQQQQQQQQ
QQAPQLRPAADGQPSGGGHKSAPKQVKRQRSSSPELMRCKRRLNFSGFGYSLPQQQPAAV
ARRNERERNRVKLVNLGFATLREHVPNGAANKKMSKVETLRSAVEYIRALQQLLDEHDAV
SAAFQAGVLSPTISPNYSNDLNSMAGSPVSSYSSDEGSYDPLSPEEQELLDFTNWF
NT seq 711 nt NT seq  +upstreamnt  +downstreamnt
atggaaagctctgccaagatggagagcggcggcgccggccagcagccccagccgcagccc
cagcagcccttcctgccgcccgcagcctgtttctttgccacggccgcagccgcggcggcc
gcagccgccgcagcggcagcgcagagcgcgcagcagcagcagcagcagcagcagcagcag
cagcaggcgccgcagctgagaccggcggccgacggccagccctcagggggcggtcacaag
tcagcgcccaagcaagtcaagcgacagcgctcgtcttcgcccgaactgatgcgctgcaaa
cgccggctcaacttcagcggctttggctacagcctgccgcagcagcagccggccgccgtg
gcgcgccgcaacgagcgcgagcgcaaccgcgtcaagttggtcaacctgggctttgccacc
cttcgggagcacgtccccaacggcgcggccaacaagaagatgagtaaggtggagacactg
cgctcggcggtcgagtacatccgcgcgctgcagcagctgctggacgagcatgacgcggtg
agcgccgccttccaggcaggcgtcctgtcgcccaccatctcccccaactactccaacgac
ttgaactccatggccggctcgccggtctcatcctactcgtcggacgagggctcttacgac
ccgctcagccccgaggagcaggagcttctcgacttcaccaactggttctga

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