Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7177
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Tryptase alpha/beta 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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TPSAB1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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TPS1, TPS2, TPSB1, TPSB2, Tryptase-2 |
Chromosome
Chromosome number
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16 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16p13.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes ar |
UniProt ID |
Q15661
|
Protein name |
Tryptase alpha/beta-1 (Tryptase-1) (EC 3.4.21.59) (Tryptase I) (Tryptase alpha-1) |
Protein function |
Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity. Isoform 2 cleaves large substrates, such as fibronectin, more |
PDB |
1LTO
,
2F9N
,
2F9O
,
2F9P
,
2ZEB
,
2ZEC
,
4A6L
,
4MPU
,
4MPV
,
4MPW
,
4MPX
,
4MQA
,
5F03
,
5WI6
,
6O1F
,
6P0P
,
6VVU
,
8VGH
,
8VGI
,
8VGJ
,
8VGK
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00089
|
Trypsin |
31 → 267 |
Trypsin |
Domain |
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Tissue specificity |
TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in lung, stomach, spleen, heart and skin; in these tissues, isoform 1 is predominant. Isoform 2 is expressed in aorta, spleen, and breast tumor, with highest levels in the endothelial cells of some |
Sequence |
|
Sequence length |
275 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Connective tissue disease |
Connective Tissue Diseases |
rs5742905, rs80338688, rs80356506, rs104894800, rs104894948, rs28931614, rs121913482, rs28933068, rs121913483, rs137854464, rs121912870, rs387906980, rs587777352, rs527236145, rs189754995, rs730880214, rs794728188, rs863223852, rs745672741, rs763514968, rs1064793914, rs1085307608, rs1131691804, rs1555399144, rs1554787779, rs1555167139, rs1939205327 View all (12 more) |
27749843 |
Dermatitis |
Contact Dermatitis |
rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 |
25724174 |
Dysautonomia |
Dysautonomia |
rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995 View all (27 more) |
27749843 |
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