KEGG   Homo sapiens (human): 1991
Entry
1991              CDS       T01001                                 

Gene name
ELANE, ELA2, GE, HLE, HNE, NE, PMN-E, SCN1
Definition
(RefSeq) elastase, neutrophil expressed
  KO
K01327  leukocyte elastase [EC:3.4.21.37]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04613  Neutrophil extracellular trap formation
hsa05202  Transcriptional misregulation in cancer
hsa05322  Systemic lupus erythematosus
Network
nt06240  Transcription
  Element
N00118  TEL-AML1 fusion to transcriptional repression
Disease
H00100  Neutropenic disorders
Drug target
Depelestat: D03686
Sivelestat (DG01401): D01918<JP> D03788
Ulinastatin: D05183<JP>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04613 Neutrophil extracellular trap formation
    1991 (ELANE)
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    1991 (ELANE)
  09163 Immune disease
   05322 Systemic lupus erythematosus
    1991 (ELANE)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    1991 (ELANE)
  09182 Protein families: genetic information processing
   03110 Chaperones and folding catalysts [BR:hsa03110]
    1991 (ELANE)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1991 (ELANE)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1991 (ELANE)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.21  Serine endopeptidases
    3.4.21.37  leukocyte elastase
     1991 (ELANE)
Peptidases and inhibitors [BR:hsa01002]
 Serine peptidases
  Family S1: chymotrypsin family
   1991 (ELANE)
Chaperones and folding catalysts [BR:hsa03110]
 Intramolecular chaperones
  Other peptidases
   1991 (ELANE)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   1991 (ELANE)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Enzymes
   1991 (ELANE)
SSDB
Motif
Pfam: Trypsin DUF1986 Trypsin_2
Other DBs
NCBI-GeneID: 1991
NCBI-ProteinID: NP_001963
OMIM: 130130
HGNC: 3309
Ensembl: ENSG00000197561
Vega: OTTHUMG00000181839
Pharos: P08246(Tchem)
UniProt: P08246
Structure
PDB: 

Position
19p13.3
AA seq 267 aa
MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLI
APNFVMSAAHCVANVNVRAVRVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVI
LQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLGRNRGIASVLQELNVTVVTSL
CRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVN
WIDSIIQRSEDNPCPHPRDPDPASRTH
NT seq 804 nt   +upstreamnt  +downstreamnt
atgaccctcggccgccgactcgcgtgtcttttcctcgcctgtgtcctgccggccttgctg
ctggggggcaccgcgctggcctcggagattgtggggggccggcgagcgcggccccacgcg
tggcccttcatggtgtccctgcagctgcgcggaggccacttctgcggcgccaccctgatt
gcgcccaacttcgtcatgtcggccgcgcactgcgtggcgaatgtaaacgtccgcgcggtg
cgggtggtcctgggagcccataacctctcgcggcgggagcccacccggcaggtgttcgcc
gtgcagcgcatcttcgaaaacggctacgaccccgtaaacttgctcaacgacatcgtgatt
ctccagctcaacgggtcggccaccatcaacgccaacgtgcaggtggcccagctgccggct
cagggacgccgcctgggcaacggggtgcagtgcctggccatgggctggggccttctgggc
aggaaccgtgggatcgccagcgtcctgcaggagctcaacgtgacggtggtgacgtccctc
tgccgtcgcagcaacgtctgcactctcgtgaggggccggcaggccggcgtctgtttcggg
gactccggcagccccttggtctgcaacgggctaatccacggaattgcctccttcgtccgg
ggaggctgcgcctcagggctctaccccgatgcctttgccccggtggcacagtttgtaaac
tggatcgactctatcatccaacgctccgaggacaacccctgtccccacccccgggacccg
gacccggccagcaggacccactga

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Ontology (6)   
   KEGG BRITE (6)   
Pathway (2)   
   KEGG PATHWAY (2)   
Network (1)   
   KEGG NETWORK (1)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Drug (4)   
   KEGG DRUG (4)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (21)   
   RefSeq(nuc) (3)   
   GenBank (9)   
   EMBL (9)   
Protein domain (3)   
   Pfam (3)   
All databases (58)   

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