H-InvDB_8.3 released on March 26, 2013. Search by Keyword H-Inv ID (HIT) H-Inv cluster ID (HIX) H-Inv protein ID (HIP) H-Inv gene family/group (HIF) Accession number Chromosome number Chromosome band Definition* Data source ID --- CCDS ID dbSNP ID (rs number) EC number Ensembl ID EntrezGene ID FR ID FR Accession number GO ID GO name* HGNC gene symbol HGNC gene name* InterPro ID InterPro name* OMIM ID OMIM title* Pathway ID Pathway name* RefSeq (gene) ID RefSeq (protein) ID SCOP ID UniProt for Advanced Search

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H-Invitational ID: HIT000268707 Accession number: CR541836 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Tryptase alpha/beta-1; Tryptase-1; EC=3.4.21.59; Tryptase I; Tryptase alpha-1; Precursor;

		Select format Flat file XML file Nucleotide sequence fasta Protein sequence fasta

Transcript original information Accession number CR541836.1 CAGE tag ID NA EST ID NA Clone Number RZPDo834B0932D Experimental resources   NBRC ; HGPD ; Antibody (TPSAB1) ; Catalog (TPSAB1); Sequence data provider NA Annotation project NA Length of cDNA 825[bp] (No. of exon:5)[A:151 T:132 G:259 C:283] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type NA Develpmental stage NA

Sequence quality information CDS feature C-truncated Kozak sequence NA PolyA NA Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) NA Transcript quality feature Truncation;  Notes NA

ATGCTGAATCTGCTGCTGCTGGCGCTGCCCGTCCTGGCGAGCCGCGCCTA CGCGGCCCCTGCCCCAGGCCAGGCCCTGCAGCGAGTGGGCATCGTCGGGG GTCAGGAGGCCCCCAGGAGCAAGTGGCCCTGGCAGGTGAGCCTGAGAGTC CACGGCCCATACTGGATGCACTTCTGCGGGGGCACCCTCATCCACCCCCA GTGGGTGCTGACCGCAGCGCACTGCGTGGGACCGGACGTCAAGGATCTGG CCGCCCTCAGGGTGCAACTGCGGGAGCAGCACCTCTACTACCAGGACCAG CTGCTGCCGGTCAGCAGGACCATCGTGCACCCACAGTTCTACACCGCCCA GATCGGAGCGGACATCGCCCTGCTGGAGCTGGAGGAGCCGGTGAACGTCT CCAGCCACGTCCACACGGTCACCCTGCCCCCTGCCTCAGAGACCTTCCCC CCGGGGATGCCGTGCTGGGTCACTGGCTGGGGCGATGTGGACAATGATGA GCGCCTCCCACCGCCATTTCCTCTGAAGCAGGTGAAGGTCCCCATAATGG AAAACCACATTTGTGACGCAAAATACCACCTTGGCGCCTACACGGGAGAC GACGTCCGCATCGTCCGTGACGACATGCTGTGTGCCGGGAACACCCGGAG GGACTCATGCCAGGGCGACTCCGGAGGGCCCCTGGTGTGCAAGGTGAATG GCACCTGGCTGCAGGCGGGCGTGGTCAGCTGGGGCGAGGGCTGTGCCCAG CCCAACCGGCCTGGCATCTACACCCGTGTCACCTACTACTTGGACTGGAT CCACCACTATGTCCCCAAAAAGCCG

Gene structure information

H-Inv cluster ID		HIX0012676
Genomic location	Chromosome	16
	Location	16p13.3
	Position	1290940- 1292238
	Strand	+
Possible duplicated location(s)		NA
Gene structure		5 exon(s)
Database links	RefSeq	NM_003294;
	Ensembl	ENST00000338844;  ENST00000423126;  ENST00000430512;  ENST00000461509;
	Entrez Gene	Entrez Gene ID:7177;
	KEGG GENES	KEGG GENES(7177);
	GeneCard	TPSAB1;  *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links		H-DBAS;  G-integra;  cDNA-genome alignment;

Predicted CDS information HIP ID HIP000074371 Predicted CDS 1..825;  275[aa];  Orientation:+1;  Codon Adaptation Index (CAI). Database links RefSeq NA UniProt Q6FHB8;  CCDS NA

MLNLLLLALPVLASRAYAAPAPGQALQRVGIVGGQEAPRSKWPWQVSLRV HGPYWMHFCGGTLIHPQWVLTAAHCVGPDVKDLAALRVQLREQHLYYQDQ LLPVSRTIVHPQFYTAQIGADIALLELEEPVNVSSHVHTVTLPPASETFP PGMPCWVTGWGDVDNDERLPPPFPLKQVKVPIMENHICDAKYHLGAYTGD DVRIVRDDMLCAGNTRRDSCQGDSGGPLVCKVNGTWLQAGVVSWGEGCAQ PNRPGIYTRVTYYLDWIHHYVPKKP

Motif information

	a.a. length	InterPro	Name
	238	IPR001254	Peptidase S1/S6, chymotrypsin/Hap [Domain]
	245	IPR009003	Peptidase cysteine/serine, trypsin-like [Domain]
	237	IPR001254	Peptidase S1/S6, chymotrypsin/Hap [Domain]
	242	IPR001254	Peptidase S1/S6, chymotrypsin/Hap [Domain]
	16	IPR001314	Peptidase S1A, chymotrypsin-type [Family]
	6	IPR018114	Peptidase S1/S6, chymotrypsin/Hap, active site [Active_site]
	15	IPR001314	Peptidase S1A, chymotrypsin-type [Family]
	13	IPR001314	Peptidase S1A, chymotrypsin-type [Family]
	12	IPR018114	Peptidase S1/S6, chymotrypsin/Hap, active site [Active_site]

Gene function information

H-Inv ID		HIT000268707
H-Inv cluster ID		HIX0012676
Accession number		CR541836.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;
Coding potential		Protein coding;
Definition		Tryptase alpha/beta-1; Tryptase-1; EC=3.4.21.59; Tryptase I; Tryptase alpha-1; Precursor;
Similarity category		Category: Identical to known human protein(Category I).
		Identical to known human protein (Q15661)  [Identity/coverage = 99.273%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence		Protein evidence
PubMed ID		2187193;  2677049;  3543004;  9920877;  10898108;  12162961;  14670919;  15489334;  15616553;  18039527;  19159218;  19748655;  ALL;
Gene family/group	H-Inv gene family/group ID	NA
	Gene family/group name	NA
	Evidence motif (InterPro) ID	NA
Gene symbol/name	HGNC symbol	TPSAB1
	HGNC aliases	"tryptase beta 1"
	HGNC name	tryptase alpha/beta 1
	DDBJ	TPSB2
	UniProt	TPSAB1
EC number		NA
GGDB (GlycoGene Database)	Gene symbol	NA
	Familly	NA
	Designation	NA
	Expression	NA
KEGG metabolic pathway		NA
Protein-protein interaction (PPI)	H-Inv protein ID	HIP000074371
	No. of interaction	46
	Interaction partner(s)	HIP000025714;  HIP000026195;  HIP000029340;  HIP000029497;  HIP000030905;  HIP000031927;  HIP000035736;  HIP000035736;  HIP000036861;  HIP000041686;  HIP000041686;  HIP000044161;  HIP000054354;  HIP000058385;  HIP000065350;  HIP000065563;  HIP000065702;  HIP000065702;  HIP000066454;  HIP000066501;  HIP000068366;  HIP000071861;  HIP000071861;  HIP000076079;  HIP000077194;  HIP000083491;  HIP000084360;  HIP000086068;  HIP000088104;  HIP000089312;  HIP000089312;  HIP000091500;  HIP000094939;  HIP000098105;  HIP000099885;  HIP000103618;  HIP000103900;  HIP000105729;  HIP000105729;  HIP000107647;  HIP000112222;  HIP000113911;  HIP000113911;  HIP000142143;  HIP000170047;  HIP000210236;
	BIND	130761;
	DIP	112421E;  113736E;  114192E;  114290E;  115553E;  115964E;  116928E;  117365E;  117481E;  177429E;  84416E;
	MINT	MINT-17240;  MINT-17241;  MINT-17242;  MINT-62622;  MINT-62720;  MINT-62796;  MINT-6489355;  MINT-8201907;
	HPRD	00728;  01548;  01605;  01610;  02256;  02394;  03028;  03409;  04267;  04300;  04534;  04632;  04700;  09145;  10091;  10536;  11840;  12341;  12457;  13549;  15985;  16034;
	IntAct	EBI-1075830;  EBI-1074429;  EBI-1060469;  EBI-1063090;  EBI-1071295;  EBI-1068302;  EBI-1063890;  EBI-1076295;  EBI-3248480;  EBI-3044058;  EBI-1080538;  EBI-1077961;  EBI-2626054;  EBI-1237540;  EBI-2372444;  EBI-394875;  EBI-348838;  EBI-443675;  EBI-443659;  EBI-443665;
Database links	RefSeq	NM_003294;
	Ensembl	ENST00000338844;  ENST00000423126;  ENST00000430512;  ENST00000461509;
	Entrez Gene	Entrez Gene ID:7177;
	KEGG GENES	KEGG GENES(7177);
	GeneCard	TPSAB1;  *GeneCards is provided free to academic non-profit institutions.
	etc	Human-Gene diversity Of Life-style related Diseases;
Curation status		Auto-annotated
Notes		NA
Related H-InvDB links		Gene family;  Similarity Search Tool;  TACT;

fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome.

NA

Gene ontology information

Molecular function	catalytic activity (GO:0003824);  serine-type endopeptidase activity (GO:0004252);
Biological process	proteolysis (GO:0006508);

Subcellular localization information

Last modified:20-Apr-2012

WoLF PSORT	extracellular;  lysosome;
Target P	signal peptide
SOSUI	soluble protein
TMHMM	soluble protein
PTS1
Related H-InvDB links	LIFEdb;  JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Disease/pathology information

Last modified:20-Apr-2012

Disease relation		Disease name:NA
Related information in OMIM		OMIM ID:NA Title:NA
Co-localized orphan diseases		OMIM ID:  156850;  605013;  605021;  606668;  607339;  608558;  608903;  610260;
Disease related mutation		NA
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	Entrez Gene ID:(7177)
	Disease	Entrez Gene ID:(7177)
	Substance	Entrez Gene ID:(7177)
Related H-InvDB links		DiseaseInfo Viewer;  LEGENDA;

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 44 .. 44 G/C rs61729112 + CDS Nonsynonymous[Arg15Pro] 53 .. 53 C/T rs61739899 + CDS Nonsynonymous[Ala18Val] 68 .. 68 G/T rs1141965 + CDS Nonsynonymous[Gly23Val] 76 .. 76 C/G rs1960188 - CDS Nonsynonymous[Leu26Val] 83 .. 83 G/A rs1064770 + CDS Nonsynonymous[Arg28Gln] 86 .. 86 T/C rs112944038 + CDS Nonsynonymous[Val29Ala] 86 .. 86 T/C rs1064771 + CDS Nonsynonymous[Val29Ala] 90 .. 90 C/T rs112531166 + CDS Synonymous[Gly30Gly] 93 .. 93 C/T rs1800987 + CDS Synonymous[Ile31Ile] 96 .. 96 C/T rs17434400 + CDS Synonymous[Val32Val] 96 .. 96 C/T rs62012906 + CDS Synonymous[Val32Val] 129 .. 129 C/G rs1960187 - CDS Synonymous[Pro43Pro] 152 .. 152 A/G rs61753435 + CDS Nonsynonymous[His51Arg] 152 .. 152 A/G rs1060281 - CDS Nonsynonymous[His51Arg] 153 .. 153 C/T rs1800989 + CDS Synonymous[His51His] 155 .. 155 G/A rs17841227 + CDS Nonsynonymous[Gly52Asp] 158 .. 158 C/G rs17841226 + CDS Nonsynonymous[Pro53Arg] 171 .. 171 C/T rs1960186 - CDS Synonymous[His57His] 171 .. 171 C/T rs55701457 - CDS Synonymous[His57His] 174 .. 174 C/T rs2982423 - CDS Synonymous[Phe58Phe] 177 .. 177 C/T rs2230084 + CDS Synonymous[Cys59Cys] 309 .. 309 G/A rs1064773 + CDS Synonymous[Pro103Pro] 333 .. 333 A/C rs2234903 + CDS Synonymous[Pro111Pro] 344 .. 344 C/T rs1064774 + CDS Nonsynonymous[Thr115Ile] 346 .. 346 G/A rs1064775 + CDS Nonsynonymous[Ala116Thr] 347 .. 347 C/T rs1064776 + CDS Nonsynonymous[Ala116Val] 353 .. 354 TC/CT rs71376589 - CDS 363 .. 363 C/T rs1064777 + CDS Synonymous[Asp121Asp] 390 .. 390 G/C rs1064778 + CDS Synonymous[Pro130Pro] 396 .. 396 C/G rs1800991 + CDS Nonsynonymous[Asn132Lys] 397 .. 397 G/A rs1064779 + CDS Nonsynonymous[Val133Ile] 407 .. 407 A/G rs1064780 + CDS Nonsynonymous[His136Arg] 421 .. 421 A/G rs1800992 + CDS Nonsynonymous[Thr141Ala] 422 .. 422 C/T rs1064781 + CDS Nonsynonymous[Thr141Ile] 423 .. 423 C/G rs1064782 + CDS Synonymous[Thr141Thr] 438 .. 438 A/G rs1064783 + CDS Synonymous[Ser146Ser] 451 ^ 452 -/C rs2234647 + CDS 484 .. 484 G/A rs2234641 + CDS Nonsynonymous[Asp162Asn] 503 .. 503 G/C rs1141969 + CDS Nonsynonymous[Arg168Pro] 508 .. 508 C/T rs2234904 + CDS Nonsynonymous[Pro170Ser] 522 .. 522 T/C rs1141970 + CDS Synonymous[Pro174Pro] 613 .. 613 G/A rs1060284 + CDS Nonsynonymous[Val205Ile] 644 .. 644 C/G rs2234905 + CDS Nonsynonymous[Thr215Ser] 647 .. 647 G/A rs2234906 + CDS Nonsynonymous[Arg216Gln] 657 .. 657 A/C rs2234907 + CDS Synonymous[Ser219Ser] 661 .. 661 C/A rs17841224 + CDS Nonsynonymous[Gln221Lys] 672 .. 672 C/T rs1137383 + CDS Synonymous[Ser224Ser] 711 .. 711 G/A rs1060290 + CDS Synonymous[Leu237Leu] 734 .. 734 G/A rs1060292 + CDS Nonsynonymous[Gly245Asp]  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;