DRC3 (dynein regulatory complex subunit 3)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83450
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein regulatory complex subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DRC3
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP134, LRRC48
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p11.2|17p11.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IDA
GO:0005930 Component Axoneme IDA 26387594
GO:0031514 Component Motile cilium IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618758 25384 ENSG00000171962
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9H069
Protein name Dynein regulatory complex subunit 3 (Leucine-rich repeat-containing protein 48)
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. {ECO:0000250|UniProtKB
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 65 → 121 Leucine rich repeat Repeat
Sequence 
MNQPCNSMEPRVMDDDMLKLAVGDQGPQEEAGQLAKQEGILFKDVLSLQLDFRNILRIDN
LWQFENLRKLQLDNNIIEKIEGLENLAHLVWLDLSFNNIETIEGLDTLVNLEDLSLFNNR
ISKIDSLDALVKLQVLSLGNNRIDNMMNIIYLRRFKCLRTLSLSRNPISEAEDYKMFICA
YLPDLMYLDYRRIDDHTKKLAEAKHQYSIDELKHQENLMQAQLEDEQAQREELEKHKTAF
VEHLNGSFLFDSMYAEDSEGNNLSYLPGVGELLETYKDKFVIICVNIFEYGLKQQEKRKT
ELDTFSECVREAIQENQEQGKRKIAKFEEKHLSSLSAIREELELPNIEKMILECSADISE
LFDALMTLEMQLVEQLEETINMFERNIVDMVGLFIENVQSLMAQCRDLENHHHEKLLEIS
ISTLEKIVEGDLDEDLPNDLRALFVDKDTIVNAVGASHDIHLLKIDNREDELVTRINSWC
TRLIDRIHKDEIMRNRKRVKEINQYIDHMQSELDNLECGDILD
Sequence length 523
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 23202125
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 31952466
Breast Neoplasms Associate 35528180
Pulmonary Disease Chronic Obstructive Associate 31952466