DNAH1 curation notes

Deep research: just deep-research-falcon human DNAH1 failed (Edison API "Failed to
authenticate", three attempts across the three IDA genes); no deep-research file exists.
The review is based on the cached publications and UniProt record listed below.

Identity and structure

• Q9P2D7, 4265 aa; stem 1-1542 plus AAA1-AAA6 motor with stalk (UniProt FT REGION).
  UniProt function: [file:human/DNAH1/DNAH1-uniprot.txt "Produces force towards the minus ends of"].
• Classified as an axonemal inner-arm heavy chain at cloning PMID:9373155.
• Assigned to IDA d in respiratory cilia PMID:39056782.

Localization

• Sperm flagellum, full length PMID:24360805.
• Respiratory cilia, full length PMID:39056782.

Partners and dependencies

• DNALI1 PMID:36792588; DNAH1 is lost from
  DNALI1-deficient flagella PMID:36792588.
• TTC29/ZMYND12 PMID:37934199.
• DNAH3 and DNAH12 are needed for DNAH1 in sperm [PMID:39503742; PMID:40146200]. DNAH2 loss in mice
  also removes DNAH1 from flagella PMID:33968937.

Phenotypes

• Human MMAF / SPGF18 [PMID:24360805 "Five unrelated subjects out of 18 (28%) carried a homozygous
  variant in DNAH1"; PMID:27798045; PMID:34867808]. Patients mostly lack respiratory symptoms
  PMID:24360805.
• PCD (CILD37): one family, homozygous p.Lys1154Gln PMID:25927852. Treated as limited evidence.
• Mouse Mdhc7/Dnah1 KO: infertile, ~50% lower tracheal CBF, no gross axonemal defects
  PMID:11371505. ENU ferf1 missense: abnormal motility and zona
  penetration failure PMID:30734403.

Curation decisions

• Core MF: minus-end-directed microtubule motor activity (IBA, intact motor domain). The NAS motor
  and axonemal dynein complex rows are modified to the more specific terms.
• Light intermediate chain binding is accepted for DNAH1 (DNALI1 partner). Intermediate chain
  binding is kept as non-core (seeded only by a Dictyostelium cytoplasmic dynein; no IC partner
  shown for DNAH1).
• Sperm axoneme assembly is kept as non-core: human loss disorganizes the axoneme, but mouse
  knockouts do not show that.

PANTHER / IBA check

• Human DNAH1 and mouse Dnah1 (E9Q8T7) carry the same six IBA terms in QuickGO (GO:0008569,
  GO:0030286, GO:0030317, GO:0036126, GO:0045505, GO:0051959), so there is no ortholog
  family-split problem of the kind seen for DNAH12.
• PANTHER geneinfo places the protein in family PTHR10676 (the source of the IBAs), whereas the
  UniProt/InterPro cross-reference places it in PTHR22878 (each in a subfamily correctly named
  for this gene). This is the same two-route disagreement noted for DNAH12, but here it does not
  cost the gene any IBAs.