Homo sapiens (human): 126695
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Entry
126695 CDS
T01001
Symbol
KDF1, C1orf172, ECTD12
Name
(RefSeq) keratinocyte differentiation factor 1
KO
K23346
keratinocyte differentiation factor 1
Organism
hsa
Homo sapiens (human)
Disease
H00651
Hypohidrotic ectodermal dysplasia
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09190 Not Included in Pathway or Brite
09193 Unclassified: signaling and cellular processes
99995 Signaling proteins
126695 (KDF1)
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Gene cluster
GFIT
Motif
Pfam:
DUF4656
Motif
Other DBs
NCBI-GeneID:
126695
NCBI-ProteinID:
NP_689578
OMIM:
616758
HGNC:
26624
Ensembl:
ENSG00000175707
UniProt:
Q8NAX2
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Position
1:complement(26949562..26960468)
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AA seq
398 aa
AA seq
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MPRPGHPRPASGPPRLGPWERPTELCLETYDKPPQPPPSRRTRRPDPKDPGHHGPESITF
ISGSAEPALESPTCCLLWRPWVWEWCRAAFCFRRCRDCLQRCGACVRGCSPCLSTEDSTE
GTAEANWAKEHNGVPPSPDRAPPSRRDGQRLKSTMGSSFSYPDVKLKGIPVYPYPRATSP
APDADSCCKEPLADPPPMRHSLPSTFASSPRGSEEYYSFHESDLDLPEMGSGSMSSREID
VLIFKKLTELFSVHQIDELAKCTSDTVFLEKTSKISDLISSITQDYHLDEQDAEGRLVRG
IIRISTRKSRARPQTSEGRSTRAAAPTAAAPDSGHETMVGSGLSQDELTVQISQETTADA
IARKLRPYGAPGYPASHDSSFQGTDTDSSGAPLLQVYC
NT seq
1197 nt
NT seq
+upstream
nt +downstream
nt
atgccccgccctggacacccccgcccagcatctgggcctccacgcttgggaccgtgggag
cggccaacagagctatgtctggagacatatgataaaccacctcagcccccaccaagccgc
cgcacccgtagaccagaccccaaggaccctggccaccatgggccagagagcattaccttc
atctctggctctgctgagccggcccttgagtcccccacctgctgcctgctctggcgaccc
tgggtgtgggagtggtgccgggctgccttctgcttccgccgctgccgggattgcctccag
cgctgtggagcctgtgtgcggggatgcagcccctgcctgtctactgaggactccactgag
gggactgctgaagccaactgggccaaggagcacaatggagtgccccccagccctgatcgt
gcaccccccagccggcgggatggccagcggctcaagtcaaccatgggcagcagcttcagc
taccccgatgttaagctcaaaggcatccctgtgtatccctacccgagggccacctcccca
gcccctgatgcggactcctgctgcaaggagccactggccgatcccccacccatgcgacac
agcctgcccagcacctttgccagtagtcctcgtggctccgaggagtactattctttccat
gagtcggacctggacctgccggagatgggcagtggctccatgtcgagccgagaaattgat
gtgctcatcttcaagaagctgacagagctgttcagcgtacaccagatcgatgagctggcc
aagtgcacatcagacactgtgttcctggagaagaccagtaagatctcggaccttatcagc
agcatcacgcaggactaccacctggatgagcaggatgctgagggccgcctggtacgcggc
atcattcgcattagtacccgaaagagccgtgctcgcccacagacctcggagggtcgttca
actcgggctgctgccccaaccgctgctgcccctgacagtggccatgagaccatggtgggc
tcaggtctcagccaggatgagctgacagtgcagatctcccaggagacgactgcagatgcc
atcgcccggaagctgaggccttatggagctccagggtacccagcaagccatgactcatcc
ttccagggcaccgacacagactcgtcgggggcacccttgctccaggtgtactgctaa
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