THSD1
entrez
55901
canonical
uniprot
Q9NS62
canonical
ensembl
ENSG00000136114
resolver
ensp
ENSP00000258613
resolver
ensp
ENSP00000340650
resolver
genesymbol
THSD1
resolver
genesymbol_syn
TMTSP
resolver
hgnc
HGNC:17754
resolver
uniprot
A2A3J3
resolver
uniprot
B2RCF5
resolver
uniprot
B3KTY7
resolver
uniprot
Q6P3U1
resolver
uniprot
Q6UXZ2
resolver
uniprot_entry
B3KTY7_HUMAN
resolver
uniprot_entry
THSD1_HUMAN
resolver
uniprot_sec
A2A3J3
resolver
uniprot_sec
B2RCF5
resolver
uniprot_sec
Q6P3U1
resolver
uniprot_sec
Q6UXZ2
resolver
amino_acid_sequence
MKPMLKDFSNLLLVVLCDYVLGEAEYLLLREPGHVALSNDTVYVDFQYFDGANGTLRNVSVLLLEANTNQTVTTKYLLTNQSQGTLKFECFYFKEAGDYWFTMTPEATDNSTPFPWWEKSAFLKVEWPVFHVDLNRSAKAAEGTFQVGLFTSQPLCPFPVDKPNIVVDVIFTNSLPEARRNSRQPLEIRTSKRTELAQGQWVEFGCAPLGPEAYVTVVLKLLGRDSVITSTGPIDLAQKFGYKLVMVPELTCESGVEVTVLPPPCTFVQGVVTVFKEAPRYPGKRTIHLAENSLPLGERRTIFNCTLFDMGKNKYCFDFGISSRSHFSAKEECMLIQRNTETWGLWQPWSQCSATCGDGVRERRRVCLTSFPSSPVCPGMSLEASLCSLEECAAFQPSSPSPLQPQGPVKSNNIVTVTGISLCLFIIIATVLITLWRRFGRPAKCSTPARHNSIHSPSFRKNSDEENICELSEQRGSFSDGGDGPTGSPGDTGIPLTYRRSGPVPPEDDASGSESFQSNAQKIIPPLFSYRLAQQQLKEMKKKGLTETTKVYHVSQSPLTDTAIDAAPSAPLDLESPEEAAANKFRIKSPFPEQPAVSAGERPPSRLDLNVTQASCAISPSQTLIRKSQARHVGSRGGPSERSHARNAHFRRTASFHEARQARPFRERSMSTLTPRQAPAYSSRTRTCEQAEDRFRPQSRGAHLFPEKLEHFQEASGTRGPLNPLPKSYTLGQPLRKPDLGDHQAGLVAGIERTEPHRARRGPSPSHKSVSRKQSSPISPKDNYQRVSSLSPSQCRKDKCQSFPTHPEFAFYDNTSFGLTEAEQRMLDLPGYFGSNEEDETTSTLSVEKLVI
uniprot
proteins
disease_involvement
DISEASE: Lymphatic malformation 13 (LMPHM13) [MIM:620244]: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM13 is an autosomal recessive form characterized by fetal onset of pleural and peritoneal effusions and the presence of moderate to severe non-immune hydrops fetalis that often resolves with age. Affected individuals show relatively normal growth and development, apart from mild ascites and hemangiomas. Most patients have congenital cardiac defects. {ECO:0000269|PubMed:26036949, ECO:0000269|PubMed:33569873}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Aneurysm, intracranial berry, 12 (ANIB12) [MIM:618734]: A form of cerebral aneurysm, a focal abnormal dilatation of a blood vessel in the brain. Berry intracranial aneurysms, also known as saccular aneurysms, have a characteristic rounded shape and account for the vast majority of intracranial aneurysms. They are the most common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage. {ECO:0000269|PubMed:27895300, ECO:0000269|PubMed:29069646}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix. {ECO:0000269|PubMed:27895300, ECO:0000269|PubMed:29069646}.
uniprot
proteins
mass_dalton
94584
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
26036949
uniprot
proteins
pubmed
27895300
uniprot
proteins
pubmed
29069646
uniprot
proteins
pubmed
33569873
uniprot
proteins
sequence_length
852
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Endosome membrane {ECO:0000269|PubMed:29069646}; Single-pass type I membrane protein {ECO:0000305}. Cell junction, focal adhesion {ECO:0000269|PubMed:29069646}. Note=Localizes to nascent focal adhesions. {ECO:0000269|PubMed:29069646}.; SUBCELLULAR LOCATION: [Isoform 2]: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 3]: Secreted.
uniprot
proteins
transmembrane_region
TRANSMEM 414..434; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins