KEGG   Homo sapiens (human): 5551Help
Entry
5551              CDS       T01001                                 

Gene name
PRF1, FLH2, HPLH2, P1, PFN1, PFP
Definition
perforin 1 (pore forming protein)
Orthology
K07818  
perforin 1
Organism
hsa  Homo sapiens (human)
Pathway
Natural killer cell mediated cytotoxicity
Type I diabetes mellitus
Autoimmune thyroid disease
Allograft rejection
Graft-versus-host disease
Viral myocarditis
Disease
H00109  
Familial hemophagocytic lymphohistiocytosis (FHPL)
Class
Organismal Systems; Immune system; Natural killer cell mediated cytotoxicity [PATH:hsa04650]
Human Diseases; Immune diseases; Autoimmune thyroid disease [PATH:hsa05320]
Human Diseases; Immune diseases; Allograft rejection [PATH:hsa05330]
Human Diseases; Immune diseases; Graft-versus-host disease [PATH:hsa05332]
Human Diseases; Cardiovascular diseases; Viral myocarditis [PATH:hsa05416]
Human Diseases; Endocrine and metabolic diseases; Type I diabetes mellitus [PATH:hsa04940]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
10q22
AA seq 555 aa AA seqDB search
MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFP
VDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARD
AARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYS
FHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALR
TCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERH
SEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREAL
RRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVT
FIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRL
QVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQ
MLLGEPPGNRSGAVW
NT seq 1668 nt NT seq  +upstreamnt  +downstreamnt
atggcagcccgtctgctcctcctgggcatccttctcctgctgctgcccctgcccgtccct
gccccgtgccacacagccgcacgctcagagtgcaagcgcagccacaagttcgtgcctggt
gcatggctggccggggagggtgtggacgtgaccagcctccgccgctcgggctccttccca
gtggacacacaaaggttcctgcggcccgacggcacctgcaccctctgtgaaaatgcccta
caggagggcaccctccagcgcctgcctctggcgctcaccaactggcgggcccagggctct
ggctgccagcgccatgtaaccagggccaaagtcagctccactgaagctgtggcccgggat
gcggctcgtagcatccgcaacgactggaaggtcgggctggacgtgactcctaagcccacc
agcaatgtgcatgtgtctgtggccggctcacactcacaggcagccaactttgcagcccag
aagacccaccaggaccagtacagcttcagcactgacacggtggagtgccgcttctacagt
ttccatgtggtacacactcccccgctgcaccctgacttcaagagggccctcggggacctg
ccccaccacttcaacgcctccacccagcccgcctacctcaggcttatctccaactacggc
acccacttcatccgggctgtggagctgggtggccgcatatcggccctcactgccctgcgc
acctgcgagctggccctggaagggctcacggacaacgaggtggaggactgcctgactgtc
gaggcccaggtcaacataggcatccacggcagcatctctgccgaagccaaggcctgtgag
gagaagaagaagaagcacaagatgacggcctccttccaccaaacctaccgggagcgccac
tcggaagtggttggcggccatcacacctccattaacgacctgctgttcgggatccaggcc
gggcccgagcagtactcagcctgggtaaactcgctgcccggcagccctggcctggtggac
tacaccctggaacccctgcacgtgctgctggacagccaggacccgcggcgggaggcactg
aggagggccctgagtcagtacctgacggacagggctcgctggagggactgcagccggccg
tgcccaccagggcggcagaagagcccccgagacccatgccagtgtgtgtgccatggctca
gcggtcaccacccaggactgctgccctcggcagaggggcctggcccagctggaggtgacc
ttcatccaagcatggggcctgtggggggactggttcactgccacggatgcctatgtgaag
ctcttctttggtggccaggagctgaggacgagcaccgtgtgggacaataacaaccccatc
tggtcagtgcggctggattttggggatgtgctcctggccacaggggggcccctgaggttg
caggtctgggatcaggactctggcagggacgatgacctccttggcacctgtgatcaggct
cccaagtctggttcccatgaggtgagatgcaacctgaatcatggccacctaaaattccgc
tatcatgccaggtgcttgccccacctgggaggaggcacctgcctggactatgtcccccaa
atgcttctgggggagcctccaggaaaccggagtggggccgtgtggtga

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