Homo sapiens (human): 256297
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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)
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Ortholog
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Gene cluster
GFIT
Motif
Pfam:
HLH
Motif
Other DBs
NCBI-GeneID:
256297
NCBI-ProteinID:
NP_835455
OMIM:
607194
HGNC:
23734
Ensembl:
ENSG00000168267
UniProt:
Q7RTS3
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All DBs
Position
10:23192312..23194245
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AA seq
328 aa
AA seq
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MDAVLLEHFPGGLDAFPSSYFDEDDFFTDQSSRDPLEDGDELLADEQAEVEFLSHQLHEY
CYRDGACLLLQPAPPAAPLALAPPSSGGLGEPDDGGGGGYCCETGAPPGGFPYSPGSPPS
CLAYPCAGAAVLSPGARLRGLSGAAAAAARRRRRVRSEAELQQLRQAANVRERRRMQSIN
DAFEGLRSHIPTLPYEKRLSKVDTLRLAIGYINFLSELVQADLPLRGGGAGGCGGPGGGG
RLGGDSPGSQAQKVIICHRGTRSPSPSDPDYGLPPLAGHSLSWTDEKQLKEQNIIRTAKV
WTPEDPRKLNSKSSFNNIENEPPFEFVS
NT seq
987 nt
NT seq
+upstream
nt +downstream
nt
atggacgcggtgttgctggagcacttccccgggggcctagacgcctttccttcttcgtac
ttcgacgaggacgacttcttcaccgaccagtcttcacgggaccccctggaggacggcgat
gagctgctggcggacgagcaggccgaggtggagttccttagccaccagctccacgagtac
tgctaccgcgacggggcgtgcctgctgctgcagcccgcgcccccggccgccccgctagcg
ctcgccccgccgtcctcggggggcctcggtgagccagacgacggcggcggcggcggctac
tgctgcgagacgggggcgcccccaggcggcttcccctactcgcccggctcgccgccctcg
tgcctggcctacccgtgcgccggggcggcagtactgtctcccggggcgcggctgcgcggc
ctgagcggagcggcggctgcggcggcgcggcgccggcggcgggtgcgctccgaggcggag
ctgcagcagctgcggcaggcggccaacgtgcgcgagcggcggcgcatgcagtccatcaac
gacgccttcgaggggctgcgctcgcacatccccacgctgccctacgagaagcgcctctcc
aaggtggacacgctgcgcctggccatcggctacatcaacttcctcagcgagctcgtgcag
gccgacctgcccttgcgcggcggtggcgcgggcggctgcggggggccgggcggcggcggg
cgcctgggcggggacagcccgggcagccaggcccagaaggtcatcatctgccatcggggc
acccggtccccctcccccagcgaccctgattatggcctccctcccctagcaggacactct
ctctcatggactgatgaaaaacaactcaaggaacaaaatattatccgaacagccaaagtc
tggaccccagaggaccccagaaaactcaacagcaaatcttccttcaacaacatagaaaac
gaaccaccatttgagtttgtgtcctga
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