Seroatlas · Human Serome Atlas

DNM1L

Dynamin-1-like protein

Also known as: DNM1L_HUMAN, DRP1, DVLP, DYMPLE, HDYNIV, VPS1

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

Protein identityUniProt · HPA

UniProt accession
O00429
Gene
DNM1L
Ensembl
ENSG00000087470
Chromosome
12
Canonical length
736 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Vesicles,Cytosol
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

Canonical amino-acid sequenceUniProt

736 residues, UniProt reviewed canonical sequence.

>O00429|DNM1L
     1  MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
    61  RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
   121  NNKGVSPEPI HLKIFSPNVV NLTLVDLPGM TKVPVGDQPK DIELQIRELI LRFISNPNSI
   181  ILAVTAANTD MATSEALKIS REVDPDGRRT LAVITKLDLM DAGTDAMDVL MGRVIPVKLG
   241  IIGVVNRSQL DINNKKSVTD SIRDEYAFLQ KKYPSLANRN GTKYLARTLN RLLMHHIRDC
   301  LPELKTRINV LAAQYQSLLN SYGEPVDDKS ATLLQLITKF ATEYCNTIEG TAKYIETSEL
   361  CGGARICYIF HETFGRTLES VDPLGGLNTI DILTAIRNAT GPRPALFVPE VSFELLVKRQ
   421  IKRLEEPSLR CVELVHEEMQ RIIQHCSNYS TQELLRFPKL HDAIVEVVTC LLRKRLPVTN
   481  EMVHNLVAIE LAYINTKHPD FADACGLMNN NIEEQRRNRL ARELPSAVSR DKSSKVPSAL
   541  APASQEPSPA ASAEADGKLI QDSRRETKNV ASGGGGVGDG VQEPTTGNWR GMLKTSKAEE
   601  LLAEEKSKPI PIMPASPQKG HAVNLLDVPV PVARKLSARE QRDCEVIERL IKSYFLIVRK
   661  NIQDSVPKAV MHFLVNHVKD TLQSELVGQL YKSSLLDDLL TESEDMAQRR KEAADMLKAL
   721  QGASQIIAEI RETHLW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNM1L 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
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.35
Highest tissue expression
52 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 52 nTPM
  • cerebellum: 39 nTPM
  • skeletal muscle: 38 nTPM
  • cerebral cortex: 37 nTPM
  • parathyroid gland: 36 nTPM
  • heart muscle: 34 nTPM

Single-cell type

  • urothelial cells: 310 nCPM
  • megakaryocytes: 291 nCPM
  • retinal ganglion cells: 240 nCPM
  • myonuclei: 220 nCPM
  • megakaryocyte progenitors: 215 nCPM
  • rod photoreceptor cells: 213 nCPM

Immune cell

  • non-classical monocyte: 20 nTPM
  • myeloid DC: 19 nTPM
  • intermediate monocyte: 17 nTPM
  • classical monocyte: 15 nTPM
  • plasmacytoid DC: 14 nTPM
  • memory B-cell: 14 nTPM

Brain region

  • cerebral cortex: 38 nTPM
  • basal ganglia: 36 nTPM
  • white matter: 34 nTPM
  • hippocampal formation: 33 nTPM
  • pons: 33 nTPM
  • hypothalamus: 33 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNM1L.

Disease | AllUniProt

Conditions DNM1L is implicated in, by any mechanism.

Disease | GeneticClinVar

65 pathogenic / likely-pathogenic of 863 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)
0.51
gnomAD pLI
0
gnomAD missense Z
3.83
DepMap mean gene effect
-0.62
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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

InteractionsUniProt · HPA

Protein binding partners of DNM1L 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 DNM1L as an antibody target. Whether an autoantibody or antibody against DNM1L could matter depends on whether native DNM1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNM1L 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 DNM1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DNM1L. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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