DPYSL5
Dihydropyrimidinase-related protein 5
Also known as: CRAM, CRMP-5, CRMP5, CV2, DPYL5_HUMAN, Ulip6
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BPU6
- Gene
- DPYSL5
- Ensembl
- ENSG00000157851
- Chromosome
- 2
- Canonical length
- 564 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
Canonical amino-acid sequenceUniProt
564 residues, UniProt reviewed canonical sequence.
>Q9BPU6|DPYSL5
1 MLANSASVRI LIKGGKVVND DCTHEADVYI ENGIIQQVGR ELMIPGGAKV IDATGKLVIP
61 GGIDTSTHFH QTFMNATCVD DFYHGTKAAL VGGTTMIIGH VLPDKETSLV DAYEKCRGLA
121 DPKVCCDYAL HVGITWWAPK VKAEMETLVR EKGVNSFQMF MTYKDLYMLR DSELYQVLHA
181 CKDIGAIARV HAENGELVAE GAKEALDLGI TGPEGIEISR PEELEAEATH RVITIANRTH
241 CPIYLVNVSS ISAGDVIAAA KMQGKVVLAE TTTAHATLTG LHYYHQDWSH AAAYVTVPPL
301 RLDTNTSTYL MSLLANDTLN IVASDHRPFT TKQKAMGKED FTKIPHGVSG VQDRMSVIWE
361 RGVVGGKMDE NRFVAVTSSN AAKLLNLYPR KGRIIPGADA DVVVWDPEAT KTISASTQVQ
421 GGDFNLYENM RCHGVPLVTI SRGRVVYENG VFMCAEGTGK FCPLRSFPDT VYKKLVQREK
481 TLKVRGVDRT PYLGDVAVVV HPGKKEMGTP LADTPTRPVT RHGGMRDLHE SSFSLSGSQI
541 DDHVPKRASA RILAPPGGRS SGIWLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DPYSL5 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)
- 0.27
- Highest tissue expression
- 129 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 129 nTPM
- midbrain: 45 nTPM
- basal ganglia: 44 nTPM
- hypothalamus: 29 nTPM
- hippocampal formation: 25 nTPM
- cerebellum: 20 nTPM
Single-cell type
- cone photoreceptor cells: 364 nCPM
- oligodendrocytes: 328 nCPM
- late spermatids: 254 nCPM
- bergmann glia: 140 nCPM
- retinal ganglion cells: 128 nCPM
- brain inhibitory neurons: 125 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 228 nTPM
- medulla oblongata: 166 nTPM
- pons: 137 nTPM
- thalamus: 125 nTPM
- cerebellum: 124 nTPM
- spinal cord: 113 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DPYSL5.
Disease | AllUniProt
Conditions DPYSL5 is implicated in, by any mechanism.
- Ritscher-Schinzel syndrome 4 (RTSC4) MIM:619435
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 132 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Ritscher-Schinzel syndrome 4
- DPYSL5-related disorder
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)
- 0.11
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.08
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axon guidance
- negative regulation of dendrite morphogenesis
- nervous system development
- signal transduction
Molecular functions
- in cyclic amides
- hydrolase activity
- acting on carbon-nitrogen (but not peptide) bonds
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DPYSL5 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 DPYSL5 as an antibody target. Whether an autoantibody or antibody against DPYSL5 could matter depends on whether native DPYSL5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DPYSL5 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.
Source-annotated serology context
The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.
- Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome.
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