Seroatlas · Human Serome Atlas

DRC1

Dynein regulatory complex protein 1

Also known as: C2orf39, CCDC164, CILD21, DRC1_HUMAN, FLJ32660, MGC16372

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96MC2
Gene: DRC1
Ensembl: ENSG00000157856
Chromosome: 2
Canonical length: 740 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Primary cilium transition zone

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

740 residues, UniProt reviewed canonical sequence.

>Q96MC2|DRC1
     1  MNPPGSLEAL DPNVDEHLST QILAPSVHSD NSQERIQARR LRIAARLEAR RREALGEYLD
    61  GKKESEEDQS KSYKQKEESR LKLAKLLLCG TELVTNIQVA IDIREIHRRV EEEEIKRQRI
   121  EKLENEVKTS QDKFDEITSK WEEGKQKRIP QELWEMLNTQ QLHCAGLLED KNKLISELQQ
   181  ELKTKDDQYV KDLKKQSDDI CLLLERMEEQ VKNVMKTFRE ELYNIEKAFE VERQELLASN
   241  KKKWEQALQA HNAKELEYLN NRMKKVEDYE KQLNRQRIWD CEEYNMIKIK LEQDVQILEQ
   301  QLQQRKAIYQ LNQEKLEYNL QVLKKRDEES TVIKSQQKRK INRLHDILNN LRSKYAKQIK
   361  QFQEENQSLT SDYKRLVMQF KELQKAMRHF ALIDDEKFWE IWLMNEEEAK DLIARAFDVD
   421  RIIHTHHLGL PWAAPDFWFL NNVGPISQQP QKSATQIVEE MLMRSEEEEA EEAAAEPESY
   481  LDLPKQISEK TTKRILMLLC DESGFLIESK LLSLLLPLEQ NECYLLRLDA IFSALGIESE
   541  DDLYKLVNFF LKYRAHRLSS SLQIKPCSQA SMEKASMEET STRSELELAE QTEMEGEKEE
   601  SLVEGEKEEE EETPPSPWVI HPNDVLKILE AFVMGLKKPR DSRAPLRVQK NVRDNSKDSE
   661  YWQALTTVIP SSKQNLWDAL YTALEKYHLV LTQRAKLLLE NSSLEQQNTE LQALLQQYLN
   721  SKINSELQVP PTQVLRVPTK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DRC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.45
Highest tissue expression: 37 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 37 nTPM
choroid plexus: 23 nTPM
testis: 20 nTPM
hypothalamus: 4.1 nTPM
hippocampal formation: 3.3 nTPM
basal ganglia: 2.9 nTPM

Single-cell type

late spermatids: 499 nCPM
respiratory ciliated cells: 384 nCPM
ependymal cells: 306 nCPM
fallopian tube ciliated cells: 294 nCPM
endometrial ciliated cells: 219 nCPM
choroid plexus epithelial cells: 204 nCPM

Immune cell

neutrophil: 8.9 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

choroid plexus: 21 nTPM
midbrain: 15 nTPM
medulla oblongata: 12 nTPM
spinal cord: 9.6 nTPM
white matter: 9.1 nTPM
hypothalamus: 5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DRC1.

Disease | AllUniProt

Conditions DRC1 is implicated in, by any mechanism.

Ciliary dyskinesia, primary, 21 (CILD21) MIM:615294
Spermatogenic failure 80 (SPGF80) MIM:620222

Disease | GeneticClinVar

35 pathogenic / likely-pathogenic of 593 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary ciliary dyskinesia
Primary ciliary dyskinesia 21
Spermatogenic failure 80
DRC1-related disorder
Kartagener syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.04
gnomAD pLI: 0
gnomAD missense Z: -0.05
DepMap mean gene effect: -0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Dynein regulatory complex protein 1/2, N-terminal
Dynein regulatory complex protein
Sperm tail
Dynein regulatory complex protein 1, C-terminal
Sperm tail C-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DRC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

DRC2
DRC3
DRC4
DRC5

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DRC1 as an antibody target. Whether an autoantibody or antibody against DRC1 could matter depends on whether native DRC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DRC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DRC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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