TMPRSS9 (transmembrane serine protease 9)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
360200
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane serine protease 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMPRSS9
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytical
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005887 Component Integral component of plasma membrane IEA
GO:0006508 Process Proteolysis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610477 30079 ENSG00000178297
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q7Z410
Protein name Transmembrane protease serine 9 (EC 3.4.21.-) (Polyserase-I) (Polyserine protease 1) (Polyserase-1) [Cleaved into: Serase-1; Serase-2; Serase-3]
Protein function Serase-1 and serase-2 are serine proteases that hydrolyze the peptides N-t-Boc-Gln-Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC. In contrast, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Ala-Pro-Ala-AMC are not significantly hydrolyzed.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 152 → 189 Low-density lipoprotein receptor domain class A Repeat
PF00089 Trypsin 203 → 431 Trypsin Domain
PF00089 Trypsin 504 → 731 Trypsin Domain
PF00089 Trypsin 827 → 1053 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal human tissues, such as kidney, liver, lung and brain, and in a variety of tumor cell lines. Weakly expressed in adult tissues including skeletal muscle, liver, placenta and heart. {ECO:0000269|PubMed:12886014}.
Sequence 
MEPTVADVHLVPRTTKEVPALDAACCRAASIGVVATSLVVLTLGVLLAFLSTQGFHVDHT
AELRGIRWTSSLRRETSDYHRTLTPTLEALLHFLLRPLQTLSLGLEEELLQRGIRARLRE
HGISLAAYGTIVSAELTGRHKGPLAERDFKSGRCPGNSFSCGNSQCVTKVNPECDDQEDC
SDGSDEAHCECGLQPAWRMAGRIVGGMEASPGEFPWQASLRENKEHFCGAAIINARWLVS
AAHCFNEFQDPTKWVAYVGATYLSGSEASTVRAQVVQIVKHPLYNADTADFDVAVLELTS
PLPFGRHIQPVCLPAATHIFPPSKKCLISGWGYLKEDFLVKPEVLQKATVELLDQALCAS
LYGHSLTDRMVCAGYLDGKVDSCQGDSGGPLVCEEPSGRFFLAGIVSWGIGCAEARRPGV
YARVTRLRDWILEATTKASMPLAPTMAPAPAAPSTAWPTSPESPVVSTPTKSMQALSTVP
LDWVTVPKLQECGARPAMEKPTRVVGGFGAASGEVPWQVSLKEGSRHFCGATVVGDRWLL
SAAHCFNHTKVEQVRAHLGTASLLGLGGSPVKIGLRRVVLHPLYNPGILDFDLAVLELAS
PLAFNKYIQPVCLPLAIQKFPVGRKCMISGWGNTQEGNATKPELLQKASVGIIDQKTCSV
LYNFSLTDRMICAGFLEGKVDSCQGDSGGPLACEEAPGVFYLAGIVSWGIGCAQVKKPGV
YTRITRLKGWILEIMSSQPLPMSPPSTTRMLATTSPRTTAGLTVPGATPSRPTPGAASRV
TGQPANSTLSAVSTTARGQTPFPDAPEATTHTQLPDCGLAPAALTRIVGGSAAGRGEWPW
QVSLWLRRREHRCGAVLVAERWLLSAAHCFDVYGDPKQWAAFLGTPFLSGAEGQLERVAR
IYKHPFYNLYTLDYDVALLELAGPVRRSRLVRPICLPEPAPRPPDGTRCVITGWGSVREG
GSMARQLQKAAVRLLSEQTCRRFYPVQISSRMLCAGFPQGGVDSCSGDAGGPLACREPSG
RWVLTGVTSWGYGCGRPHFPGVYTRVAAVRGWIGQHIQE
Sequence length 1059
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Parkinson disease Parkinson Disease rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)		 25064009, 28892059
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Parkinson Disease Parkinson Disease GWAS
Neuroticism Neuroticism GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining
Disease Name Relationship Type References
Signs and Symptoms Respiratory Associate 30449631