Seroatlas · Human Serome Atlas

DNM1

Dynamin-1

Also known as: DNM, DYN1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q05193
Gene: DNM1
Ensembl: ENSG00000106976
Chromosome: 9
Canonical length: 864 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

864 residues, UniProt reviewed canonical sequence.

>Q05193|DNM1
     1  MGNRGMEDLI PLVNRLQDAF SAIGQNADLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
    61  SGIVTRRPLV LQLVNATTEY AEFLHCKGKK FTDFEEVRLE IEAETDRVTG TNKGISPVPI
   121  NLRVYSPHVL NLTLVDLPGM TKVPVGDQPP DIEFQIRDML MQFVTKENCL ILAVSPANSD
   181  LANSDALKVA KEVDPQGQRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
   241  DIDGKKDITA ALAAERKFFL SHPSYRHLAD RMGTPYLQKV LNQQLTNHIR DTLPGLRNKL
   301  QSQLLSIEKE VEEYKNFRPD DPARKTKALL QMVQQFAVDF EKRIEGSGDQ IDTYELSGGA
   361  RINRIFHERF PFELVKMEFD EKELRREISY AIKNIHGIRT GLFTPDMAFE TIVKKQVKKI
   421  REPCLKCVDM VISELISTVR QCTKKLQQYP RLREEMERIV TTHIREREGR TKEQVMLLID
   481  IELAYMNTNH EDFIGFANAQ QRSNQMNKKK TSGNQDEILV IRKGWLTINN IGIMKGGSKE
   541  YWFVLTAENL SWYKDDEEKE KKYMLSVDNL KLRDVEKGFM SSKHIFALFN TEQRNVYKDY
   601  RQLELACETQ EEVDSWKASF LRAGVYPERV GDKEKASETE ENGSDSFMHS MDPQLERQVE
   661  TIRNLVDSYM AIVNKTVRDL MPKTIMHLMI NNTKEFIFSE LLANLYSCGD QNTLMEESAE
   721  QAQRRDEMLR MYHALKEALS IIGDINTTTV STPMPPPVDD SWLQVQSVPA GRRSPTSSPT
   781  PQRRAPAVPP ARPGSRGPAP GPPPAGSALG GAPPVPSRPG ASPDPFGPPP QVPSRPNRAP
   841  PGVPSRSGQA SPSRPESPRP PFDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNM1 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): 0.34
Highest tissue expression: 353 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 353 nTPM
cerebellum: 283 nTPM
hippocampal formation: 152 nTPM
amygdala: 144 nTPM
hypothalamus: 113 nTPM
basal ganglia: 112 nTPM

Single-cell type

retinal ganglion cells: 394 nCPM
brain excitatory neurons: 310 nCPM
retinal amacrine cells: 240 nCPM
brain inhibitory neurons: 221 nCPM
cone photoreceptor cells: 211 nCPM
retinal bipolar cells: 200 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

cerebral cortex: 996 nTPM
white matter: 589 nTPM
basal ganglia: 506 nTPM
hippocampal formation: 442 nTPM
pons: 417 nTPM
amygdala: 388 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNM1.

Disease | AllUniProt

Conditions DNM1 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 31A (DEE31A) MIM:616346
Developmental and epileptic encephalopathy 31B (DEE31B) MIM:620352

Disease | GeneticClinVar

68 pathogenic / likely-pathogenic of 1,044 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy, 31A
Inborn genetic diseases
Developmental and epileptic encephalopathy, 31B
Developmental and epileptic encephalopathy
6 conditions

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): 0.25
gnomAD pLI: 1
gnomAD missense Z: 5.18
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

endocytosis
endosome organization
protein homooligomerization
protein homotetramerization
receptor-mediated endocytosis
regulation of vesicle size
synaptic vesicle budding from presynaptic endocytic zone membrane
vesicle scission
clathrin coat assembly involved in endocytosis

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DNM1 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 DNM1 as an antibody target. Whether an autoantibody or antibody against DNM1 could matter depends on whether native DNM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNM1 is annotated at the cell surface, where native DNM1 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 DNM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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