KEGG   Homo sapiens (human): 256297
Entry
256297            CDS       T01001                                 
Symbol
PTF1A, PACA, PAGEN2, PTF1-p48, bHLHa29, p48
Name
(RefSeq) pancreas associated transcription factor 1a
  KO
K09073  pancreas-specific transcription factor 1a
Organism
hsa  Homo sapiens (human)
Disease
H00512  Permanent neonatal diabetes mellitus
H00861  Pancreatic agenesis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    256297 (PTF1A)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix (bHLH)
   Tal/Twist/Atonal/Hen, Mesodermal Twist-like factors
    256297 (PTF1A)
SSDB
Motif
Pfam: HLH
Other DBs
NCBI-GeneID: 256297
NCBI-ProteinID: NP_835455
OMIM: 607194
HGNC: 23734
Ensembl: ENSG00000168267
UniProt: Q7RTS3
Position
10:23192312..23194245
AA seq 328 aa
MDAVLLEHFPGGLDAFPSSYFDEDDFFTDQSSRDPLEDGDELLADEQAEVEFLSHQLHEY
CYRDGACLLLQPAPPAAPLALAPPSSGGLGEPDDGGGGGYCCETGAPPGGFPYSPGSPPS
CLAYPCAGAAVLSPGARLRGLSGAAAAAARRRRRVRSEAELQQLRQAANVRERRRMQSIN
DAFEGLRSHIPTLPYEKRLSKVDTLRLAIGYINFLSELVQADLPLRGGGAGGCGGPGGGG
RLGGDSPGSQAQKVIICHRGTRSPSPSDPDYGLPPLAGHSLSWTDEKQLKEQNIIRTAKV
WTPEDPRKLNSKSSFNNIENEPPFEFVS
NT seq 987 nt   +upstreamnt  +downstreamnt
atggacgcggtgttgctggagcacttccccgggggcctagacgcctttccttcttcgtac
ttcgacgaggacgacttcttcaccgaccagtcttcacgggaccccctggaggacggcgat
gagctgctggcggacgagcaggccgaggtggagttccttagccaccagctccacgagtac
tgctaccgcgacggggcgtgcctgctgctgcagcccgcgcccccggccgccccgctagcg
ctcgccccgccgtcctcggggggcctcggtgagccagacgacggcggcggcggcggctac
tgctgcgagacgggggcgcccccaggcggcttcccctactcgcccggctcgccgccctcg
tgcctggcctacccgtgcgccggggcggcagtactgtctcccggggcgcggctgcgcggc
ctgagcggagcggcggctgcggcggcgcggcgccggcggcgggtgcgctccgaggcggag
ctgcagcagctgcggcaggcggccaacgtgcgcgagcggcggcgcatgcagtccatcaac
gacgccttcgaggggctgcgctcgcacatccccacgctgccctacgagaagcgcctctcc
aaggtggacacgctgcgcctggccatcggctacatcaacttcctcagcgagctcgtgcag
gccgacctgcccttgcgcggcggtggcgcgggcggctgcggggggccgggcggcggcggg
cgcctgggcggggacagcccgggcagccaggcccagaaggtcatcatctgccatcggggc
acccggtccccctcccccagcgaccctgattatggcctccctcccctagcaggacactct
ctctcatggactgatgaaaaacaactcaaggaacaaaatattatccgaacagccaaagtc
tggaccccagaggaccccagaaaactcaacagcaaatcttccttcaacaacatagaaaac
gaaccaccatttgagtttgtgtcctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (7)   
   RefSeq(nuc) (1)   
   GenBank (3)   
   EMBL (3)   
Protein domain (1)   
   Pfam (1)   
All databases (31)   

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