DRC1 (dynein regulatory complex subunit 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 92749
Gene name Dynein regulatory complex subunit 1
Gene symbol DRC1
Synonyms (NCBI Gene)
C2orf39CCDC164CILD21SPGF80
Chromosome 2
Chromosome location 2p23.3
Summary This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]
SNPs SNP information provided by dbSNP.
5
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs142371860 C>A,T Pathogenic, uncertain-significance, likely-pathogenic 5 prime UTR variant, coding sequence variant, missense variant, stop gained
rs146412095 G>A,T Likely-pathogenic Splice donor variant
rs587776997 A>T Pathogenic Stop gained, coding sequence variant
rs745800344 G>T Likely-pathogenic Splice acceptor variant
rs750136163 ->C Pathogenic Frameshift variant, coding sequence variant, 5 prime UTR variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0003352 Process Regulation of cilium movement IBA
GO:0005515 Function Protein binding IPI 34169321
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615288 24245 ENSG00000157856
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96MC2
Protein name Dynein regulatory complex protein 1 (Coiled-coil domain-containing protein 164)
Protein function Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14772 NYD-SP28 100 → 200 Sperm tail Family
PF14775 NYD-SP28_assoc 660 → 719 Sperm tail C-terminal domain Domain
Sequence 
MNPPGSLEALDPNVDEHLSTQILAPSVHSDNSQERIQARRLRIAARLEARRREALGEYLD
GKKESEEDQSKSYKQKEESRLKLAKLLLCGTELVTNIQVAIDIREIHRRVEEEEIKRQRI
EKLENEVKTSQDKFDEITSKWEEGKQKRIPQELWEMLNTQQLHCAGLLEDKNKLISELQQ
ELKTKDDQYVKDLKKQSDDICLLLERMEEQVKNVMKTFREELYNIEKAFEVERQELLASN
KKKWEQALQAHNAKELEYLNNRMKKVEDYEKQLNRQRIWDCEEYNMIKIKLEQDVQILEQ
QLQQRKAIYQLNQEKLEYNLQVLKKRDEESTVIKSQQKRKINRLHDILNNLRSKYAKQIK
QFQEENQSLTSDYKRLVMQFKELQKAMRHFALIDDEKFWEIWLMNEEEAKDLIARAFDVD
RIIHTHHLGLPWAAPDFWFLNNVGPISQQPQKSATQIVEEMLMRSEEEEAEEAAAEPESY
LDLPKQISEKTTKRILMLLCDESGFLIESKLLSLLLPLEQNECYLLRLDAIFSALGIESE
DDLYKLVNFFLKYRAHRLSSSLQIKPCSQASMEKASMEETSTRSELELAEQTEMEGEKEE
SLVEGEKEEEEETPPSPWVIHPNDVLKILEAFVMGLKKPRDSRAPLRVQKNVRDNSKDSE
YWQALTTVIPSSKQNLWDALYTALEKYHLVLTQRAKLLLENSSLEQQNTELQALLQQYLN
SKINSELQVPPTQVLRVPTK
Sequence length 740
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
413
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DRC1-related disorder Pathogenic; Likely pathogenic rs747358703, rs142371860 RCV003418256
RCV004752736
Primary ciliary dyskinesia Likely pathogenic; Pathogenic rs1435637520, rs772974990, rs1663226917, rs2148003690, rs747358703, rs371220148, rs2465381819, rs2465381898, rs748345425, rs1663691728, rs745800344, rs146412095, rs750136163, rs142371860, rs1663812465
View all (1 more)		 RCV003534995
RCV005094442
RCV001388503
RCV001384506
RCV001953717
RCV002007472
RCV002595100
RCV003121730
RCV002846869
RCV003651636
RCV000551561
RCV000629480
RCV000821948
RCV000549203
RCV001038488
RCV001229716
Primary ciliary dyskinesia 21 Likely pathogenic; Pathogenic rs1435637520, rs772974990, rs146412095, rs750136163, rs587776997, rs142371860 RCV003232034
RCV001336981
RCV002483770
RCV001784453
RCV000049260
RCV000049261
Spermatogenic failure 80 Pathogenic; Likely pathogenic rs375961396, rs927408361, rs2465399337, rs2465419984 RCV003152648
RCV003152434
RCV003990374
RCV003990706
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs115850291 RCV005916196
Cervical cancer Likely benign rs115850291 RCV005916197
Lung cancer Likely benign rs115850291 RCV005916200
Ovarian serous cystadenocarcinoma Likely benign rs115850291 RCV005916199
Show/Hide Text Mining Associations (12)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 35637434
Cerebral Palsy Associate 36856967
Ciliary Motility Disorders Associate 23354437, 25186273, 29467202, 31270959, 31701675, 31960620, 35637434, 36856967, 38154480
COVID 19 Associate 35955824
Diffuse panbronchiolitis Associate 31270959
Ependymoma Associate 33247464
Infertility Associate 36856967
Infertility Female Associate 36856967
Infertility Male Associate 34089056
Lung Diseases Associate 35955824