KEGG   Homo sapiens (human): 9421
Entry
9421              CDS       T01001                                 
Symbol
HAND1, Hxt, Thing1, bHLHa27, eHand
Name
(RefSeq) heart and neural crest derivatives expressed 1
  KO
K09071  heart-and neural crest derivatives-expressed protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
Disease
H01272  Hypoplastic left heart syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    9421 (HAND1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    9421 (HAND1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix (bHLH)
   Tal/Twist/Atonal/Hen, Mesodermal Twist-like factors
    9421 (HAND1)
SSDB
Motif
Pfam: HLH HTH_51
Other DBs
NCBI-GeneID: 9421
NCBI-ProteinID: NP_004812
OMIM: 602406
HGNC: 4807
Ensembl: ENSG00000113196
UniProt: O96004
Position
5:complement(154474972..154478227)
AA seq 215 aa
MNLVGSYAHHHHHHHPHPAHPMLHEPFLFGPASRCHQERPYFQSWLLSPADAAPDFPAGG
PPPAAAAAATAYGPDARPGQSPGRLEALGGRLGRRKGSGPKKERRRTESINSAFAELREC
IPNVPADTKLSKIKTLRLATSYIAYLMDVLAKDAQSGDPEAFKAELKKADGGRESKRKRE
LQQHEGFPPALGPVEKRIKGRTGWPQQVWALELNQ
NT seq 648 nt   +upstreamnt  +downstreamnt
atgaacctcgtgggcagctacgcacaccatcaccaccatcaccacccgcaccctgcgcac
cccatgctccacgaacccttcctcttcggtccggcctcgcgctgtcatcaggaaaggccc
tacttccagagctggctgctgagcccggctgacgctgccccggacttccctgcgggcggg
ccgccgcccgcggccgctgcagccgccaccgcctatggtcctgacgccaggcctgggcag
agccccgggcggctggaggcgcttggcggccgtcttggccggcggaaaggctcaggaccc
aagaaggagcggagacgcactgagagcattaacagcgcattcgcggagttgcgcgagtgc
atccccaacgtgccggccgacaccaagctctccaagatcaagactctgcgcctagccacc
agctacatcgcctacctgatggacgtgctggccaaggatgcacagtctggcgatcccgag
gccttcaaggctgaactcaagaaggcggatggcggccgtgagagcaagcggaaaagggag
ctgcagcagcacgaaggttttcctcctgccctgggcccagtcgagaagaggattaaagga
cgcaccggctggccgcagcaagtctgggcgctggagttaaaccagtga

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