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

Gene name
PRF1, HPLH2, P1, PFP
Definition
(RefSeq) perforin 1
  KO
K07818  perforin 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04210  Apoptosis
hsa04650  Natural killer cell mediated cytotoxicity
hsa04940  Type I diabetes mellitus
hsa05320  Autoimmune thyroid disease
hsa05330  Allograft rejection
hsa05332  Graft-versus-host disease
hsa05416  Viral myocarditis
Disease
H00109  Familial hemophagocytic lymphohistiocytosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04210 Apoptosis
    5551 (PRF1)
 09150 Organismal Systems
  09151 Immune system
   04650 Natural killer cell mediated cytotoxicity
    5551 (PRF1)
 09160 Human Diseases
  09163 Immune disease
   05320 Autoimmune thyroid disease
    5551 (PRF1)
   05330 Allograft rejection
    5551 (PRF1)
   05332 Graft-versus-host disease
    5551 (PRF1)
  09166 Cardiovascular disease
   05416 Viral myocarditis
    5551 (PRF1)
  09167 Endocrine and metabolic disease
   04940 Type I diabetes mellitus
    5551 (PRF1)
SSDB
Motif
Pfam: MACPF C2
Other DBs
NCBI-GeneID: 5551
NCBI-ProteinID: NP_001076585
OMIM: 170280
HGNC: 9360
Ensembl: ENSG00000180644
Vega: OTTHUMG00000018412
Pharos: P14222(Tchem)
UniProt: P14222
Position
10q22.1
AA seq 555 aa
MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFP
VDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARD
AARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYS
FHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALR
TCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERH
SEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREAL
RRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVT
FIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRL
QVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQ
MLLGEPPGNRSGAVW
NT seq 1668 nt   +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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Ontology (1)   
   KEGG BRITE (1)   
Pathway (7)   
   KEGG PATHWAY (7)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (36)   
   KEGG ORTHOLOGY (1)   
   RefGene (23)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (28)   
   RefSeq(nuc) (2)   
   GenBank (13)   
   EMBL (13)   
Protein domain (2)   
   Pfam (2)   
All databases (83)   

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