Variant lysozyme C [extracellular region]

Stable Identifier
R-HSA-976944
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
LYZ I56T, LYZ, LYSC_HUMAN
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
8464497 Human lysozyme gene mutations cause hereditary systemic amyloidosis

Terry, CJ, Nguyen, O, Tennent, GA, Pepys, MB, Hawkins, PN, Blake, CC, Totty, N, Vigushin, DM, Booth, DR, Soutar, AK

Nature 1993
External Reference Information
External Reference
UniProt:P61626 LYZ
Gene Names
LYZ, LZM
Chain
signal peptide:1-18, chain:19-148
Reference Genes
BioGPS Gene:4069 LYZ
COSMIC (genes):LYZ LYZ
CTD Gene:4069 LYZ
dbSNP Gene:4069 LYZ
ENSEMBL:ENSG00000090382 LYZ
ENSEMBL_homo_sapiens_GENE:ENSG00000090382.7 LYZ
HGNC:6740 LYZ
KEGG Gene (Homo sapiens):4069 LYZ
Monarch:4069 LYZ
NCBI Gene:4069 LYZ
OMIM:153450 LYZ
UCSC:P61626 LYZ
Reference Transcript
Other Identifiers
11715461_at
11715462_x_at
1555745_PM_a_at
1555745_a_at
16753914
213975_PM_s_at
213975_s_at
3421512
3421513
3421515
3421516
3421519
3421520
3421521
3421522
35926_s_at
4069
7957023
A_24_P42264
GE79416
GO:0002376
GO:0003796
GO:0003824
GO:0005576
GO:0005615
GO:0005764
GO:0005773
GO:0006954
GO:0008152
GO:0016787
GO:0016798
GO:0019730
GO:0031410
GO:0031640
GO:0035578
GO:0035580
GO:0042742
GO:0042802
GO:0043226
GO:0050829
GO:0050830
GO:0070062
GO:0098542
GO:1904724
HMNXSV003049817
Hs.277431.0.S1_3p_s_at
Hs2.234734.3.S1_3p_s_at
ILMN_1815205
ILMN_2162972
J03801_f_at
M19045_f_at
M21119_s_at
PH_hs_0028009
TC12000611.hg
X14008_rna1_f_at
Participates
as a member of
as a repeated unit of
Other forms of this molecule
LYZ [specific granule lumen]
LYZ [tertiary granule lumen]
LYZ [azurophil granule lumen]
LYZ [extracellular region]
Modified Residues
Name
L-isoleucine 56 replaced with L-threonine
Coordinate
56
PsiMod
L-isoleucine removal [MOD:01640]
A protein modification that effectively removes or replaces an L-isoleucine.
L-threonine residue [MOD:00026]
A protein modification that effectively converts a source amino acid residue to L-threonine.
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
1C7P, 1WQR, 1IP6, 1RE2, 2MEC, 1UBZ, 1W08, 1B7P, 1GFH, 1B5X, 1BB3, 1IX0, 1LZ5, 2MEH, 1IP1, 2HEF, 1LOZ, 1B5Y, 1D6P, 1OUE, 2HEC, 7XF7, 1CKC, 5LVK, 207L, 2ZIK, 1YAP, 2BQI, 2BQD, 1IWZ, 1OUJ, 1GB0, 1YAO, 1CKD, 2MEI, 1GBZ, 1GB3, 1GE4, 1IWV, 1WQM, 133L, 1IOC, 1JKC, 1OUD, 1IWT, 1B7O, 1IWU, 1GE3, 1OUB, 1CJ7, 1TAY, 3LHM, 1EQ5, 1B7Q, 1LHM, 1GDW, 1GEV, 134L, 1LHL, 2MEB, 1BB4, 1GB8, 1GF6, 2ZIL, 1GF7, 1B7R, 1BB5, 1LZ1, 1LHI, 1WQN, 1GB6, 2BQM, 2BQG, 2HEE, 1D6Q, 2LHM, 4ML7, 1GFT, 1GEZ, 2MEE, 1IY3, 4R0P, 1JSF, 1OP9, 1WQQ, 7XF8, 1CKF, 1GFG, 1GFJ, 1GB9, 3EBA, 1LZ6, 1CKG, 2NWD, 1OUH, 1IP2, 1REM, 1GB7, 1IP7, 1HNL, 1GB5, 2BQK, 1LHH, 2BQA, 2BQE, 1YAQ, 2MED, 1GF8, 2HEB, 1C45, 1GF9, 2ZWB, 1B5U, 1CJ9, 1LAA, 1B7S, 1REZ, 5LSH, 1CJ8, 1YAN, 1REX, 1OUF, 1LHJ, 2MEG, 1GBX, 1EQE, 2BQL, 3FE0, 1GF0, 1C43, 1GF3, 1GAY, 2BQJ, 6LFH, 1CJ6, 1OUC, 1EQ4, 1GDX, 208L, 1IP3, 1TBY, 1OUI, 1B5Z, 1CKH, 1GBW, 1LMT, 1IY4, 1B7L, 1I20, 1LZ4, 1YAM, 2BQF, 1I1Z, 2BQB, 1GBO, 1DI3, 1GFU, 1B5V, 1JKA, 1C46, 1IP5, 1OUA, 4I0C, 1JKB, 7AP7, 2HEA, 1GFR, 1DI5, 1I22, 1LHK, 1WQP, 2MEA, 1TDY, 1WQO, 1B5W, 1IWW, 1LYY, 2BQN, 1LZS, 1GF4, 1IWX, 1GFE, 1GB2, 1GF5, 1JWR, 2MEF, 3LN2, 1GE1, 2HED, 1TCY, 1JKD, 1GFA, 1GFK, 2ZIJ, 1GE0, 1REY, 1GBY, 1IP4, 1GAZ, 1INU, 2BQH, 2BQC, 2BQO, 1GFV, 1OUG, 1B7M, 1IWY, 7XF6, 1DI4, 1GE2, 1QSW, 1LZR, 1B7N
Interactors (3)
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