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Details on Person UniProt:Q96M63 ODAD1

Class:Id	ReferenceGeneProduct:221767
_chainChangeLog	chain:1-670 added on Fri February 6 2015
_displayName	UniProt:Q96M63 ODAD1
_timestamp	2024-11-03 19:37:54
chain	chain:1-670
checksum	A2CC0E7F18AB7ACF
comment	FUNCTION Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (By similarity).SUBUNIT Component of the outer dynein arm-docking complex along with ODAD2, ODAD3, ODAD4 and CLXN (PubMed:25192045, PubMed:27486780). Interacts with ODAD3 (PubMed:25192045). Interacts with ODAD4; this interaction may facilitate the recruitment and/or attachment of outer dynein arm docking complex proteins, including ODAD1, ODAD3, and ODAD4 to ciliary axonemes (PubMed:27486780). Interacts with DNAH9 (PubMed:25192045, PubMed:27486780, PubMed:30471718). Interacts with MNS1 (PubMed:30148830). Interacts with PIERCE1 and PIERCE2; the interactions link the outer dynein arms docking complex (ODA-DC) to the internal microtubule inner proteins (MIP) in cilium axoneme (By similarity).INTERACTION Expressed in nasal epithelial cells (PubMed:23261302, PubMed:23261303). Highly expressed in testis and also detected in lung, brain and kidney (PubMed:23261302).DISEASE The disease is caused by variants affecting the gene represented in this entry. The genetic variation producing the missense variant p.A248T, associated with CILD20, has been shown to predominantly affect splicing, yielding aberrant transcripts carrying premature translation termination signals. Only very low expression levels of the transcript carrying the missense could be detected in patients' nasal epithelial cells.SIMILARITY Belongs to the ODA1/DCC2 family.SEQUENCE CAUTION Unlikely isoform. Aberrant splice sites.SEQUENCE CAUTION Unlikely isoform. Aberrant splice sites.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
description	recommendedName: Outer dynein arm-docking complex subunit 1 alternativeName: Coiled-coil domain-containing protein 114
geneName	ODAD1 CCDC114
identifier	Q96M63
isSequenceChanged	FALSE
keyword	3D-structure Alternative splicing Cell projection Ciliopathy Cilium Coiled coil Cytoplasm Cytoskeleton Disease variant Kartagener syndrome Phosphoprotein Primary ciliary dyskinesia Proteomics identification Reference proteome
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
name	ODAD1
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8990000] ENSEMBL:ENSG00000105479 ODAD1 [Homo sapiens]
secondaryIdentifier	ODAD1_HUMAN Q6ZRL4 Q96M06 Q9UFG8
sequenceLength	670
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:221770] UniProt:Q96M63-4 ODAD1 [Homo sapiens] [ReferenceIsoform:221771] UniProt:Q96M63-5 ODAD1 [Homo sapiens] [ReferenceIsoform:412927] UniProt:Q96M63-1 ODAD1 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:9962993] ODAD1 [cilium] [Homo sapiens] [EntityWithAccessionedSequence:9969584] ODAD1 [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q96M63 ODAD1 (221767)