DIXDC1
Dixin
Also known as: DIXC1_HUMAN, Dixin, KIAA1735
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q155Q3
- Gene
- DIXDC1
- Ensembl
- ENSG00000150764
- Chromosome
- 11
- Canonical length
- 683 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
Canonical amino-acid sequenceUniProt
683 residues, UniProt reviewed canonical sequence.
>Q155Q3|DIXDC1
1 MLACLTRGNL LDVLQEGFNE QQLQAYVAWV NAQLKKRPAV KPVQDLRQDL RDGVILAYLI
61 EIVAGEKLSG VQLSPGNQQE MKNNVEKVLQ FVASKKIRMH QTSAKDIVDG NLKSIMRLVL
121 ALAAHFKPGS SRTVNQGRDS RAPLQSHRPH CATAVAQGAA AALADVCHDM SRSGRDVFRY
181 RQRNSSMDEE IENPYWSVRA LVQQYEGQQR SPSESSCSSL TSPSPIHSAK SESIITQSEE
241 KADFVIIPAE GIENRTEGTD SPLSRDWRPG SPGTYLETSW EEQLLEQQEY LEKEMEEAKK
301 MISGLQALLL NGSLPEDEQE RPLALCEPGV NPEEQLIIIQ SRLDQSMEEN QDLKKELLKC
361 KQEARNLQGI KDALQQRLTQ QDTSVLQLKQ ELLRANMDKD ELHNQNVDLQ RKLDERNRLL
421 GEYKKELGQK DRLLQQHQAK LEEALRKLSD VSYHQVDLER ELEHKDVLLA HCMKREADEA
481 TNYNSHNSQS NGFLLPTAGK GATSVSNRGT SDLQLVRDAL RSLRNSFSGH DPQHHTIDSL
541 EQGISSLMER LHVMETQKKQ ERKVRVKSPR TQVGSEYRES WPPNSKLPHS QSSPTVSSTC
601 TKVLYFTDRS LTPFMVNIPK RLEEVTLKDF KAAIDREGNH RYHFKALDPE FGTVKEEIFH
661 DDDAIPGWEG KIVAWVEEDH GENLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DIXDC1 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 42 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 42 nTPM
- seminal vesicle: 34 nTPM
- blood vessel: 30 nTPM
- colon: 28 nTPM
- spinal cord: 25 nTPM
- urinary bladder: 25 nTPM
Single-cell type
- respiratory ciliated cells: 296 nCPM
- rod photoreceptor cells: 253 nCPM
- cone photoreceptor cells: 253 nCPM
- ependymal cells: 245 nCPM
- proximal tubule cells: 236 nCPM
- choroid plexus epithelial cells: 223 nCPM
Immune cell
- eosinophil: 5.2 nTPM
- naive CD4 T-cell: 0.4 nTPM
- naive CD8 T-cell: 0.4 nTPM
- neutrophil: 0.4 nTPM
- gdT-cell: 0.3 nTPM
- memory CD4 T-cell: 0.3 nTPM
Brain region
- cerebellum: 86 nTPM
- white matter: 78 nTPM
- choroid plexus: 58 nTPM
- basal ganglia: 57 nTPM
- midbrain: 55 nTPM
- cerebral cortex: 54 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DIXDC1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 53 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 0.75
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.41
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- canonical Wnt signaling pathway
- cerebral cortex radially oriented cell migration
- forebrain ventricular zone progenitor cell division
- modification of postsynaptic actin cytoskeleton
- negative regulation of neuron differentiation
- positive regulation of Wnt signaling pathway
- regulation of actin cytoskeleton organization
- regulation of microtubule cytoskeleton organization
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DIXDC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DIXDC1 as an antibody target. Whether an autoantibody or antibody against DIXDC1 could matter depends on whether native DIXDC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DIXDC1 is annotated at the cell surface, where native DIXDC1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DIXDC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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