DYTN
Dystrotelin
Also known as: DYTN_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A2CJ06
- Gene
- DYTN
- Ensembl
- ENSG00000232125
- Chromosome
- 2
- Canonical length
- 578 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to nonsense-mediated transcript decay (NMD). On the other hand, transcripts skipping the two coding exons are expressed at very low levels. While this gene maintains an intact CDS, it may be an evolving pseudogene. However, after a discussion about this gene within the RefSeq group, as well as in the consensus coding sequence (CCDS) collaboration, it was decided to keep it as a protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS sets. [provided by RefSeq, Jul 2019]
Canonical amino-acid sequenceUniProt
578 residues, UniProt reviewed canonical sequence.
>A2CJ06|DYTN
1 MDPDKQDALN SIENSIYRTA FKLQSVQTLC QLDLIDSSLI QQVLLRPSFW EARKHSLSVQ
61 QLSQALQELF QKAREENPGQ VHPRAPELTL SLLTTMYNSK GTGFLQLMPA AAALITLSGD
121 SPLSKYRALF QLYAENSRGG YDSGPRMTRR VLRKLLTDLQ QIPTFVGESR ALCPVESATR
181 SCFQGVLSPA IKEEKFLSWV QSEPPILLWL PTCHRLSAAE RVTHPARCTL CRTFPITGLR
241 YRCLKCLNFD ICQMCFLSGL HSKSHQKSHP VIEHCIQMSA MQNTKLLFRT LRNNLLQGRC
301 RKKEAARRQQ LLDQVNPKGV PHHAQARLLK KQLNQYKDKL QAIYTSQEER ICRFETRIHK
361 LKTNQDSLWT KLQQIRRDLQ ARLQPPGPSS SSFQNVGNKV DHSSTEKVPK GGDYLQIKNA
421 TEDASTGEPL PKLDEVDRSH RSHTNAEHAL RNPESPETTL HSTRAQSQTQ KMPQKVISAL
481 PSYQEGLKQD IPKMVPAEMS SPALAAVEKK EAGNIKERKD ELEEEELQEL LSKLMDAFNL
541 ETPSGPESSV NMDLYSGAQR VCRAFSALVD QIALPNLKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DYTN 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)
- 0.43
- Highest tissue expression
- 0.1 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 0.1 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
- appendix: 0 nTPM
- basal ganglia: 0 nTPM
Single-cell type
- hematopoietic stem cells: 202 nCPM
- platelets: 45 nCPM
- megakaryocyte-erythroid progenitors: 39 nCPM
- neutrophils: 15 nCPM
- thymocytes: 15 nCPM
- megakaryocyte progenitors: 15 nCPM
Immune cell
- total PBMC: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- medulla oblongata: 0.1 nTPM
- pons: 0.1 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
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)
- 1.29
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.39
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
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
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DYTN as an antibody target. Whether an autoantibody or antibody against DYTN could matter depends on whether native DYTN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DYTN is annotated at the cell surface, where native DYTN 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 DYTN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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