Pathway Human Homo sapiens

Disease

R-HSA-1643685 in Reactome release 97: a top-level pathway, with 2,550 genes placed in it by the mapping files and 12 child pathways in the hierarchy.

The same number in the other species

Reactome writes the mouse and rat events it infers from a human pathway under the human number with the species token. A door opens only where that species' own list in this release holds the id; neither of the other two lists holds it. Whether the event was inferred from this one is what the record says.

The record
The genes
Parents and children

Scripts are off

This page reads the pathway's record from its source while you read the rest; with scripts off the card stays at its loading line. Reload with scripts on to see it, or open the source's own page from the link in the card.

01The record

Reactome's own record of this pathway

What this tells you

The pathway list, the hierarchy and the genes on this page are read from the files Reactome publishes for Reactome release 97, built into this site on 2026-09-09: the pathway list, the hierarchy relationship file and the two gene mapping files. The record card is the one live read, Reactome's own record of this pathway.

Reactome's download page describes the mapping files: Mapping files link the source database identifier to the lowest level pathway diagram or subset of the pathway, all levels of the pathway hierarchy or database identifier to all reactions. [R13] The gene list here is the all-levels mapping of NCBI Gene ids, filled from the all-levels mapping of Ensembl ids where the NCBI file has no row for a gene; each row names which file it came from by the shape of its source id. Each row carries the evidence codes the file writes for it, as written and unranked, and both where the file writes both; no page of Reactome's documentation the survey read defines the codes, so this page does not expand them. A gene id the identity files do not name is kept as the source's own id with no door rather than turned into a symbol.

On citing what a search finds, Reactome says: It should be remembered that while we strive to contain the most current and accurate data, Reactome should not be used in citations where other primary sources of information are available. [R12] The record card prints the literature Reactome attaches to a curated pathway for that reason. The data are public domain: All data in the Reactome database and files derived from that data are licensed under the Creative Commons Public Domain Dedication (CC0). User may copy, modify, and distribute these data, even for commercial purposes, without asking for permission. Attribution is encouraged but not required. [R10] The pathway illustrations are licensed apart, under CC BY 4.0, and none is shown here.

A gene on this list is one Reactome places in this pathway in this release, and that is all the row says: it does not say the gene is expressed in a tissue or associated with a disease, which are the other two explorers' questions, read from other sources. Reactome's papers of record are [R01] [R02].

[R01] Ragueneau E, Gong C, Sinquin P, Sevilla C, Beavers D, Grentner A, et al. (2026). The Reactome Knowledgebase 2026. Nucleic Acids Research 54:D673-D681. PMID 41251150, doi 10.1093/nar/gkaf1223.
[R02] Milacic M, Beavers D, Conley P, Gong C, Gillespie M, Griss J, et al. (2024). The Reactome Pathway Knowledgebase 2024. Nucleic Acids Research 52:D672-D678. PMID 37941124, doi 10.1093/nar/gkad1025.
[R10] Reactome, reactome.org. License Agreement. https://reactome.org/license, read 2026-09-09.
[R12] Reactome, reactome.org. Citing us. https://reactome.org/cite, read 2026-09-09.
[R13] Reactome, reactome.org. Download. https://reactome.org/download-data, read 2026-09-09.

Stable id: R-HSA-1643685.19
Class: TopLevelPathway
Species: Homo sapiens (human)
Inferred: no: a curated human pathway
Disease pathway: yes, as Reactome flags it
Released: 2011-12-06
Last updated: 2023-06-07
Events inside: 12, counted from the record

Biological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular viewpoint, human disease pathways have three mechanistic causes: the inclusion of microbially-expressed proteins, altered functions of human proteins, or changed expression levels of otherwise functionally normal human proteins.

The first group encompasses the infectious diseases such as influenza, tuberculosis and HIV infection. The second group involves human proteins modified either by a mutation or by an abnormal post-translational event that produces an aberrant protein with a novel function. Examples include somatic mutations of EGFR and FGFR (epidermal and fibroblast growth factor receptor) genes, which encode constitutively active receptors that signal even in the absence of their ligands, or the somatic mutation of IDH1 (isocitrate dehydrogenase 1) that leads to an enzyme active on 2-oxoglutarate rather than isocitrate, or the abnormal protein aggregations of amyloidosis which lead to diseases such as Alzheimer's.

Infectious diseases are represented in Reactome as microbial-human protein interactions and the consequent events. The existence of variant proteins and their association with disease-specific biological processes is represented by inclusion of the modified protein in a new or variant reaction, an extension to the 'normal' pathway. Diseases which result from proteins performing their normal functions but at abnormal rates can also be captured, though less directly. Many mutant alleles encode proteins that retain their normal functions but have abnormal stabilities or catalytic efficiencies, leading to normal reactions that proceed to abnormal extents. The phenotypes of such diseases can be revealed when pathway annotations are combined with expression or rate data from other sources.

Depending on the biological pathway/process immediately affected by disease-causing gene variants, non-infectious diseases in Reactome are organized into diseases of signal transduction by growth factore receptors and second messengers, diseases of mitotic cell cycle, diseases of cellular response to stress, diseases of programmed cell death, diseases of DNA repair, disorders of transmembrane transporters, diseases of metabolism, diseases of immune system, diseases of neuronal system, disorders of developmental biology, disorders of extracellular matrix organization, and diseases of hemostatis.

Literature Reactome attaches

Reactome's record attaches no literature to this pathway.

Reactome ContentService, this pathway's record · Reactome v97 · read 2026-10-06 ET · Reactome pathway browser"Disease". Reactome, release 97, https://reactome.org/PathwayBrowser/#/R-HSA-1643685 with StableID: R-HSA-1643685.19 (accessed 2026-10-06 ET). Reactome version 97 (CC0).

Reading this pathway's record from Reactome (the pathway record).Still reading. A first read of a pathway can take a while; this page waits up to 35 seconds for it, and its scripts then bring in the panel, or a line saying what did not arrive.

02The genes

Genes Reactome places in this human pathway

The mapping files place 2,550 genes in this human pathway; showing 1,401 to 1,500, in pages of 100, sorted by symbol for reading. The order carries no ranking.

Genes Reactome places in this human pathway, page 15 of 26
Gene	Authority id	Mapping file id	Evidence codes
GenePIK3CB	AuthorityHGNC:8976	Mapping file id5291 NCBI file	EvidenceTAS
GenePIK3CD	AuthorityHGNC:8977	Mapping file id5293 NCBI file	EvidenceTAS
GenePIK3CG	AuthorityHGNC:8978	Mapping file id5294 NCBI file	EvidenceTAS
GenePIK3R1	AuthorityHGNC:8979	Mapping file id5295 NCBI file	EvidenceIEA, TAS
GenePIK3R2	AuthorityHGNC:8980	Mapping file id5296 NCBI file	EvidenceTAS
GenePIK3R3	AuthorityHGNC:8981	Mapping file id8503 NCBI file	EvidenceTAS
GenePIK3R4	AuthorityHGNC:8982	Mapping file id30849 NCBI file	EvidenceIEA, TAS
GenePIK3R5	AuthorityHGNC:30035	Mapping file id23533 NCBI file	EvidenceTAS
GenePIK3R6	AuthorityHGNC:27101	Mapping file id146850 NCBI file	EvidenceTAS
GenePIM1	AuthorityHGNC:8986	Mapping file id5292 NCBI file	EvidenceTAS
GenePKLR	AuthorityHGNC:9020	Mapping file id5313 NCBI file	EvidenceTAS
GenePLCG1	AuthorityHGNC:9065	Mapping file id5335 NCBI file	EvidenceTAS
GenePLCG2	AuthorityHGNC:9066	Mapping file id5336 NCBI file	EvidenceTAS
GenePLK2	AuthorityHGNC:19699	Mapping file id10769 NCBI file	EvidenceTAS
GenePLRG1	AuthorityHGNC:9089	Mapping file id5356 NCBI file	EvidenceTAS
GenePML	AuthorityHGNC:9113	Mapping file id5371 NCBI file	EvidenceTAS
GenePMM2	AuthorityHGNC:9115	Mapping file id5373 NCBI file	EvidenceTAS
GenePMS2	AuthorityHGNC:9122	Mapping file id5395 NCBI file	EvidenceTAS
GenePNP	AuthorityHGNC:7892	Mapping file id4860 NCBI file	EvidenceTAS
GenePOLA1	AuthorityHGNC:9173	Mapping file id5422 NCBI file	EvidenceTAS
GenePOLA2	AuthorityHGNC:30073	Mapping file id23649 NCBI file	EvidenceTAS
GenePOLR2A	AuthorityHGNC:9187	Mapping file id5430 NCBI file	EvidenceIEA, TAS
GenePOLR2B	AuthorityHGNC:9188	Mapping file id5431 NCBI file	EvidenceIEA, TAS
GenePOLR2C	AuthorityHGNC:9189	Mapping file id5432 NCBI file	EvidenceIEA, TAS
GenePOLR2D	AuthorityHGNC:9191	Mapping file id5433 NCBI file	EvidenceIEA, TAS
GenePOLR2E	AuthorityHGNC:9192	Mapping file id5434 NCBI file	EvidenceIEA, TAS
GenePOLR2F	AuthorityHGNC:9193	Mapping file id5435 NCBI file	EvidenceIEA, TAS
GenePOLR2G	AuthorityHGNC:9194	Mapping file id5436 NCBI file	EvidenceIEA, TAS
GenePOLR2H	AuthorityHGNC:9195	Mapping file id5437 NCBI file	EvidenceIEA, TAS
GenePOLR2I	AuthorityHGNC:9196	Mapping file id5438 NCBI file	EvidenceIEA, TAS
GenePOLR2J	AuthorityHGNC:9197	Mapping file id5439 NCBI file	EvidenceIEA, TAS
GenePOLR2K	AuthorityHGNC:9198	Mapping file id5440 NCBI file	EvidenceIEA, TAS
GenePOLR2L	AuthorityHGNC:9199	Mapping file id5441 NCBI file	EvidenceIEA, TAS
GenePOM121	AuthorityHGNC:19702	Mapping file id9883 NCBI file	EvidenceIEA, TAS
GenePOM121C	AuthorityHGNC:34005	Mapping file idENSG00000272391 Ensembl file	EvidenceIEA, TAS
GenePOMC	AuthorityHGNC:9201	Mapping file id5443 NCBI file	EvidenceTAS
GenePOMGNT1	AuthorityHGNC:19139	Mapping file id55624 NCBI file	EvidenceTAS
GenePOMT1	AuthorityHGNC:9202	Mapping file id10585 NCBI file	EvidenceTAS
GenePOMT2	AuthorityHGNC:19743	Mapping file id29954 NCBI file	EvidenceTAS
GenePORCN	AuthorityHGNC:17652	Mapping file id64840 NCBI file	EvidenceTAS
GenePPFIBP1	AuthorityHGNC:9249	Mapping file id8496 NCBI file	EvidenceTAS
GenePPIA	AuthorityHGNC:9253	Mapping file id5478 NCBI file	EvidenceTAS
GenePPIB	AuthorityHGNC:9255	Mapping file id5479 NCBI file	EvidenceTAS
GenePPIE	AuthorityHGNC:9258	Mapping file id10450 NCBI file	EvidenceTAS
GenePPIG	AuthorityHGNC:14650	Mapping file id9360 NCBI file	EvidenceTAS
GenePPIH	AuthorityHGNC:14651	Mapping file id10465 NCBI file	EvidenceTAS
GenePPIL1	AuthorityHGNC:9260	Mapping file id51645 NCBI file	EvidenceTAS
GenePPIL3	AuthorityHGNC:9262	Mapping file id53938 NCBI file	EvidenceTAS
GenePPIL4	AuthorityHGNC:15702	Mapping file id85313 NCBI file	EvidenceTAS
GenePPIL6	AuthorityHGNC:21557	Mapping file id285755 NCBI file	EvidenceTAS
GenePPM1B	AuthorityHGNC:9276	Mapping file id5495 NCBI file	EvidenceTAS
GenePPM1K	AuthorityHGNC:25415	Mapping file id152926 NCBI file	EvidenceTAS
GenePPP1CA	AuthorityHGNC:9281	Mapping file id5499 NCBI file	EvidenceTAS
GenePPP1CB	AuthorityHGNC:9282	Mapping file id5500 NCBI file	EvidenceTAS
GenePPP1CC	AuthorityHGNC:9283	Mapping file id5501 NCBI file	EvidenceTAS
GenePPP1R3C	AuthorityHGNC:9293	Mapping file id5507 NCBI file	EvidenceTAS
GenePPP2CA	AuthorityHGNC:9299	Mapping file id5515 NCBI file	EvidenceTAS
GenePPP2CB	AuthorityHGNC:9300	Mapping file id5516 NCBI file	EvidenceTAS
GenePPP2R1A	AuthorityHGNC:9302	Mapping file id5518 NCBI file	EvidenceTAS
GenePPP2R1B	AuthorityHGNC:9303	Mapping file id5519 NCBI file	EvidenceTAS
GenePPP2R5A	AuthorityHGNC:9309	Mapping file id5525 NCBI file	EvidenceTAS
GenePPP2R5B	AuthorityHGNC:9310	Mapping file id5526 NCBI file	EvidenceTAS
GenePPP2R5C	AuthorityHGNC:9311	Mapping file id5527 NCBI file	EvidenceTAS
GenePPP2R5D	AuthorityHGNC:9312	Mapping file id5528 NCBI file	EvidenceTAS
GenePPP2R5E	AuthorityHGNC:9313	Mapping file id5529 NCBI file	EvidenceTAS
GenePQBP1	AuthorityHGNC:9330	Mapping file id10084 NCBI file	EvidenceTAS
GenePRCC	AuthorityHGNC:9343	Mapping file id5546 NCBI file	EvidenceTAS
GenePRDX1	AuthorityHGNC:9352	Mapping file id5052 NCBI file	EvidenceIEA
GenePRDX2	AuthorityHGNC:9353	Mapping file id7001 NCBI file	EvidenceIEA
GenePRELP	AuthorityHGNC:9357	Mapping file id5549 NCBI file	EvidenceTAS
GenePRF1	AuthorityHGNC:9360	Mapping file id5551 NCBI file	EvidenceTAS
GenePRIM1	AuthorityHGNC:9369	Mapping file id5557 NCBI file	EvidenceTAS
GenePRIM2	AuthorityHGNC:9370	Mapping file id5558 NCBI file	EvidenceTAS
GenePRKACA	AuthorityHGNC:9380	Mapping file id5566 NCBI file	EvidenceIEA, TAS
GenePRKACB	AuthorityHGNC:9381	Mapping file id5567 NCBI file	EvidenceIEA, TAS
GenePRKACG	AuthorityHGNC:9382	Mapping file id5568 NCBI file	EvidenceIEA, TAS
GenePRKAR1A	AuthorityHGNC:9388	Mapping file id5573 NCBI file	EvidenceTAS
GenePRKAR1B	AuthorityHGNC:9390	Mapping file id5575 NCBI file	EvidenceTAS
GenePRKAR2A	AuthorityHGNC:9391	Mapping file id5576 NCBI file	EvidenceTAS
GenePRKAR2B	AuthorityHGNC:9392	Mapping file id5577 NCBI file	EvidenceTAS
GenePRKCSH	AuthorityHGNC:9411	Mapping file id5589 NCBI file	EvidenceTAS
GenePRKG1	AuthorityHGNC:9414	Mapping file id5592 NCBI file	EvidenceIEA
GenePRKG2	AuthorityHGNC:9416	Mapping file id5593 NCBI file	EvidenceIEA
GenePRKX	AuthorityHGNC:9441	Mapping file id5613 NCBI file	EvidenceIEA
GenePRMT1	AuthorityHGNC:5187	Mapping file id3276 NCBI file	EvidenceTAS
GenePROC	AuthorityHGNC:9451	Mapping file id5624 NCBI file	EvidenceTAS
GenePROS1	AuthorityHGNC:9456	Mapping file id5627 NCBI file	EvidenceTAS
GenePRPF19	AuthorityHGNC:17896	Mapping file id27339 NCBI file	EvidenceTAS
GenePRPF6	AuthorityHGNC:15860	Mapping file id24148 NCBI file	EvidenceTAS
GenePRPF8	AuthorityHGNC:17340	Mapping file id10594 NCBI file	EvidenceTAS
GenePRR5	AuthorityHGNC:31682	Mapping file id55615 NCBI file	EvidenceTAS
GenePSEN1	AuthorityHGNC:9508	Mapping file id5663 NCBI file	EvidenceTAS
GenePSEN2	AuthorityHGNC:9509	Mapping file id5664 NCBI file	EvidenceTAS
GenePSENEN	AuthorityHGNC:30100	Mapping file id55851 NCBI file	EvidenceTAS
GenePSIP1	AuthorityHGNC:9527	Mapping file id11168 NCBI file	EvidenceTAS
GenePSMA1	AuthorityHGNC:9530	Mapping file id5682 NCBI file	EvidenceTAS
GenePSMA2	AuthorityHGNC:9531	Mapping file id5683 NCBI file	EvidenceTAS
GenePSMA3	AuthorityHGNC:9532	Mapping file id5684 NCBI file	EvidenceTAS
GenePSMA4	AuthorityHGNC:9533	Mapping file id5685 NCBI file	EvidenceTAS
GenePSMA5	AuthorityHGNC:9534	Mapping file id5686 NCBI file	EvidenceTAS

Evidence codes on this page: IEA, TAS, as the mapping file writes them; a row carrying two was written twice by the file, once under each. The mapping file id says which file placed the gene: an NCBI Gene id from NCBI2Reactome_All_Levels.txt, an Ensembl gene id from Ensembl2Reactome_All_Levels.txt. The two files can disagree about a code, so a row's codes are the one file's view. Measured by this site's build over this release on 2026-09-09: of the 138,908 human pathway-gene pairs both files place, 207 (0.149 per cent, over 47 genes) carry TAS in the Ensembl file where the NCBI rows carry IEA alone.

Reactome mapping files, the human rows for this pathway · Reactome release 97 · read 2026-09-09 · Reactome downloads"NCBI2Reactome_All_Levels.txt" and "Ensembl2Reactome_All_Levels.txt", Reactome, release 97, https://reactome.org/download-data/ (date of access 2026-09-09). Data CC0; attribution encouraged.

03The hierarchy

Parents and children in this release's hierarchy

Parents

None: this is a top-level pathway of the release.

Children

Reactome's hierarchy is a graph rather than a tree: a pathway can sit under more than one parent, and the gene counts are each pathway's own placements at every level under it, so a parent's count is not the sum of its children's.

Reactome, the human pathway list and hierarchy relationship file · Reactome release 97 · read 2026-09-09 · Reactome downloads"ReactomePathways.txt" and "ReactomePathwaysRelation.txt", Reactome, release 97, https://reactome.org/download-data/ (date of access 2026-09-09). Data CC0; attribution encouraged.