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Protein Ontology Report - hMAPT

PR:P10636 - http://purl.obolibrary.org/obo/PR_P10636
This page represents a class of proteins encompassing all the protein products of the MAPT gene in Homo sapiens.
Ontology Information
PRO ID PR:P10636 Show OBO stanza / PAF / GPI
PRO name microtubule-associated protein tau (human)
Synonyms
PRO-short-label: EXACT: hMAPT
Gene-based: RELATED: MAPT | MAPTL | MTBT1 | TAU
Other: EXACT: PHF-tau (human) | neurofibrillary tangle protein (human) | paired helical filament-tau (human)
Definition A microtubule-associated protein tau that is encoded in the genome of human. [PRO:DAN]
Comment Requested by=Alzforum.
PRO Category organism-gene
Parent PR:000010173 microtubule-associated protein tau
Gene Template HGNC:6893 MAPT
Taxon NCBITaxon:9606 Homo sapiens
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Specific
Category Number of Terms
organism-gene 1
organism-sequence 86
organism-modification 33
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000037532
hMAPT/var:L284R
Leu-284, CHEBI:29952
associated_with_disease_progression DOID:680 tauopathy Alzforum:mapt-l284r
PR:000037533
hMAPT/var:N296H
Asn-296, CHEBI:29979
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:11585254, PMID:11906000, UniProtKB_VAR:VAR_019663
PR:000037530
hMAPT/var:N279K
Asn-279, CHEBI:29967
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:10412802, PMID:10489057, PMID:10802785, PMID:12473774, PMID:9789048, UniProtKB_VAR:VAR_010346
PR:000037531
hMAPT/var:K280del
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:9973279, UniProtKB_VAR:VAR_010347
PR:000037536
hMAPT/var:P301L
Pro-301, CHEBI:30006
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:10214944, PMID:9641683, PMID:9736786, PMID:9789048, PMID:9973279, UniProtKB_VAR:VAR_010348
PR:000037537
hMAPT/var:G303V
Gly-303, CHEBI:30015
associated_with_disease_progression DOID:680 tauopathy Alzforum:mapt-g303v
associated_with_disease_progression DOID:678 progressive supranuclear palsy PMID:16157753, UniProtKB_VAR:VAR_037439
PR:000037534
hMAPT/var:P301S
Pro-301, CHEBI:29999
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:10374757, PMID:10553987, PMID:11071507, PMID:16240366, UniProtKB_VAR:VAR_010349
PR:000045432
hMAPT/var:S285R
Ser-285, CHEBI:29952
associated_with_disease_progression DOID:678 progressive supranuclear palsy Alzforum:mapt-s285r
PR:000037539
hMAPT/var:S305N
Ser-305, CHEBI:50347
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:10208578, UniProtKB_VAR:VAR_010350
PR:000037525
hMAPT/var:K257T
Lys-257, CHEBI:30013
associated_with_disease_progression DOID:11870 Pick's disease PMID:11089577, PMID:11117542, UniProtKB_VAR:VAR_010344
associated_with_disease_progression DOID:680 tauopathy Alzforum:mapt-k257t
PR:000028709
hMAPT/var:R5H
Arg-5, CHEBI:29979
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:11921059, UniProtKB_VAR:VAR_019660
PR:000037551
hMAPT/var:G389R
Gly-389, CHEBI:29952
associated_with_disease_progression DOID:11870 Pick's disease PMID:10604746, PMID:11117542, UniProtKB_VAR:VAR_010352
associated_with_disease_progression DOID:680 tauopathy Alzforum:mapt-g389r-ga
PR:000036993
hMAPT/var:Q336H
Gln-336, CHEBI:29979
associated_with_disease_progression DOID:11870 Pick's disease Alzforum:mapt-q336h
PR:000037541
hMAPT/var:K317M
Lys-317, CHEBI:16044
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:15883319, UniProtKB_VAR:VAR_037440
associated_with_disease_progression DOID:680 tauopathy Alzforum:mapt-k317m
PR:000037552
hMAPT/var:R406W
Arg-406, CHEBI:29954
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:10214944, PMID:11278002, PMID:11889249, PMID:14517953, PMID:9641683, PMID:9973279, UniProtKB_VAR:VAR_010353
PR:000028710
hMAPT/var:R5L
Arg-5, CHEBI:29967
associated_with_disease_progression DOID:680 tauopathy Alzforum:mapt-r5l
associated_with_disease_progression DOID:678 progressive supranuclear palsy PMID:12325083, UniProtKB_VAR:VAR_019661
PR:000028724
hMAPT/var:N296del
associated_with_disease_progression DOID:680 tauopathy Alzforum:mapt-n296del-dn296
associated_with_disease_progression DOID:678 progressive supranuclear palsy PMID:11220749, PMID:11906000, PMID:14991828, PMID:14991829, UniProtKB_VAR:VAR_019664
PR:000037550
hMAPT/var:K369I
Lys-369, CHEBI:30009
associated_with_disease_progression DOID:11870 Pick's disease PMID:11601501, UniProtKB_VAR:VAR_019668
PR:000037548
hMAPT/var:S352L
Ser-352, CHEBI:30006
associated_with_disease_progression DOID:680 tauopathy Alzforum:mapt-s352l
PR:000037528
hMAPT/var:G272V
Gly-272, CHEBI:30015
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:9641683, PMID:9973279, UniProtKB_VAR:VAR_010345
PR:000037543
hMAPT/var:S320F
Ser-320, CHEBI:29997
associated_with_disease_progression DOID:11870 Pick's disease PMID:11891833, UniProtKB_VAR:VAR_019665
PR:000037542
hMAPT/var:S320Y
Ser-320, CHEBI:46858
associated_with_disease_progression DOID:680 tauopathy Alzforum:mapt-s320y
PR:000037527
hMAPT/var:L266V
Leu-266, CHEBI:30015
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:12509859, UniProtKB_VAR:VAR_019662
PR:000037553
hMAPT/var:N410H
Asn-410, CHEBI:29979
associated_with_disease_progression DOID:680 tauopathy Alzforum:mapt-n410h
PR:000037547
hMAPT/var:E342V
Glu-342, CHEBI:30015
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:11117541, UniProtKB_VAR:VAR_019666
PR:000037546
hMAPT/var:V337M
Val-337, CHEBI:16044
associated_with_disease_progression DOID:9255 frontotemporal dementia PMID:10214944, PMID:9629852, UniProtKB_VAR:VAR_010351

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