DNAH7 notes
Identity and structure
- UniProt Q8WXX0, 4024 aa, full dynein heavy chain architecture (stem 1..1289, AAA1-AAA6, stalk 2572..2873) [file:human/DNAH7/DNAH7-uniprot.txt].
- Cryo-EM of human respiratory DMTs: "IDAb and IDAe are both DNAH7" PMID:37258679.
- IDAb/IDAe motor domains modelled as copies of IDAg, "the other centrin-containing IDA" PMID:37258679.
Localization
- Airway cilia, induced during ciliogenesis PMID:11877439.
- Along entire respiratory axoneme; absent in CCDC39/CCDC40 ruler mutants PMID:39056782.
- Reduced in sperm lacking radial spoke 1 (IQUB) PMID:39849482.
Disease (CILD50 / male infertility)
- PMID:34476482
- PMID:35543642; mitochondrial sheath defects.
- PMID:40810911; ODA proteins unaffected.
- The 2002 PCD case (PMID:11877439) lacked IDAs but DNAH7 was synthesised; the primary lesion was not shown to be in DNAH7.
Curation decisions
- Core MF: minus-end-directed microtubule motor activity (IBA; full motor domain). Core CC: inner dynein arm. Core BP: cilium movement; IDA assembly (structural subunit).
- Calcium ion binding (InterPro EF-hand hit, no UniProt EF-hand): MARK_AS_OVER_ANNOTATED.
- Dynein intermediate chain binding: UNDECIDED; PAINT IBD at PTN000743491 seeded only by dictyBase:DDB_G0276355 (cytoplasmic dynein) (interpro/panther/PTHR10676/PTHR10676-paint.tsv).
- HPA sperm annulus: UNDECIDED (annulus is not axonemal).
PANTHER / IBA check
- Human DNAH7 (Q8WXX0) and mouse Dnah7a (E9Q0T8) / Dnah7c (A0A087WR13) receive the same 8 IBAs in QuickGO (incl. GO:0036156, GO:0036159, GO:0120316); no human/mouse family split as seen for DNAH12. DNAH7 itself seeds the PTN008503981 inner dynein arm IBD and PTN008951089 IDA assembly IBD.
Deep research
- Falcon deep research failed (Edison API authentication 503 errors on repeated attempts); review based on direct reading of cached literature.