Seroatlas · Human Serome Atlas

DNMBP

Dynamin-binding protein

Also known as: ARHGEF36, DNMBP_HUMAN, KIAA1010, Tuba

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

Protein identityUniProt · HPA

UniProt accession: Q6XZF7
Gene: DNMBP
Ensembl: ENSG00000107554
Chromosome: 10
Canonical length: 1577 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli,Nuclear bodies,Golgi apparatus,Cytosol

OverviewNCBI Gene

This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

1577 residues, UniProt reviewed canonical sequence.

>Q6XZF7|DNMBP
     1  MEAGSVVRAI FDFCPSVSEE LPLFVGDIIE VLAVVDEFWL LGKKEDVTGQ FPSSFVEIVT
    61  IPSLKEGERL FVCICEFTSQ ELDNLPLHRG DLVILDGIPT AGWLQGRSCW GARGFFPSSC
   121  VRELCLSSQS RQWHSQSALF QIPEYSMGQA RALMGLSAQL DEELDFREGD VITIIGVPEP
   181  GWFEGELEGR RGIFPEGFVE LLGPLRTVDE SVSSGNQDDC IVNGEVDTPV GEEEIGPDED
   241  EEEPGTYGVA LYRFQALEPN ELDFEVGDKI RILATLEDGW LEGSLKGRTG IFPYRFVKLC
   301  PDTRVEETMA LPQEGSLARI PETSLDCLEN TLGVEEQRHE TSDHEAEEPD CIISEAPTSP
   361  LGHLTSEYDT DRNSYQDEDT AGGPPRSPGV EWEMPLATDS PTSDPTEVVN GISSQPQVPF
   421  HPNLQKSQYY STVGGSHPHS EQYPDLLPLE ARTRDYASLP PKRMYSQLKT LQKPVLPLYR
   481  GSSVSASRVV KPRQSSPQLH NLASYTKKHH TSSVYSISER LEMKPGPQAQ GLVMEAATHS
   541  QGDGSTDLDS KLTQQLIEFE KSLAGPGTEP DKILRHFSIM DFNSEKDIVR GSSKLITEQE
   601  LPERRKALRP PPPRPCTPVS TSPHLLVDQN LKPAPPLVVR PSRPAPLPPS AQQRTNAVSP
   661  KLLSRHRPTC ETLEKEGPGH MGRSLDQTSP CPLVLVRIEE MERDLDMYSR AQEELNLMLE
   721  EKQDESSRAE TLEDLKFCES NIESLNMELQ QLREMTLLSS QSSSLVAPSG SVSAENPEQR
   781  MLEKRAKVIE ELLQTERDYI RDLEMCIERI MVPMQQAQVP NIDFEGLFGN MQMVIKVSKQ
   841  LLAALEISDA VGPVFLGHRD ELEGTYKIYC QNHDEAIALL EIYEKDEKIQ KHLQDSLADL
   901  KSLYNEWGCT NYINLGSFLI KPVQRVMRYP LLLMELLNST PESHPDKVPL TNAVLAVKEI
   961  NVNINEYKRR KDLVLKYRKG DEDSLMEKIS KLNIHSIIKK SNRVSSHLKH LTGFAPQIKD
  1021  EVFEETEKNF RMQERLIKSF IRDLSLYLQH IRESACVKVV AAVSMWDVCM ERGHRDLEQF
  1081  ERVHRYISDQ LFTNFKERTE RLVISPLNQL LSMFTGPHKL VQKRFDKLLD FYNCTERAEK
  1141  LKDKKTLEEL QSARNNYEAL NAQLLDELPK FHQYAQGLFT NCVHGYAEAH CDFVHQALEQ
  1201  LKPLLSLLKV AGREGNLIAI FHEEHSRVLQ QLQVFTFFPE SLPATKKPFE RKTIDRQSAR
  1261  KPLLGLPSYM LQSEELRASL LARYPPEKLF QAERNFNAAQ DLDVSLLEGD LVGVIKKKDP
  1321  MGSQNRWLID NGVTKGFVYS SFLKPYNPRR SHSDASVGSH SSTESEHGSS SPRFPRQNSG
  1381  STLTFNPSSM AVSFTSGSCQ KQPQDASPPP KECDQGTLSA SLNPSNSESS PSRCPSDPDS
  1441  TSQPRSGDSA DVARDVKQPT ATPRSYRNFR HPEIVGYSVP GRNGQSQDLV KGCARTAQAP
  1501  EDRSTEPDGS EAEGNQVYFA VYTFKARNPN ELSVSANQKL KILEFKDVTG NTEWWLAEVN
  1561  GKKGYVPSNY IRKTEYT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNMBP 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): 0.48
Highest tissue expression: 30 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 30 nTPM
skin: 26 nTPM
small intestine: 26 nTPM
stomach: 23 nTPM
duodenum: 21 nTPM
rectum: 19 nTPM

Single-cell type

urothelial cells: 494 nCPM
ocular epithelial cells: 417 nCPM
neutrophils: 278 nCPM
monocytes: 201 nCPM
cone photoreceptor cells: 182 nCPM
endometrial glandular cells: 150 nCPM

Immune cell

NK-cell: 2.2 nTPM
naive B-cell: 1.9 nTPM
intermediate monocyte: 1.2 nTPM
memory B-cell: 1.2 nTPM
non-classical monocyte: 1.2 nTPM
classical monocyte: 0.8 nTPM

Brain region

choroid plexus: 18 nTPM
cerebellum: 13 nTPM
thalamus: 12 nTPM
hippocampal formation: 10 nTPM
hypothalamus: 9.1 nTPM
cerebral cortex: 9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNMBP.

Disease | AllUniProt

Conditions DNMBP is implicated in, by any mechanism.

Cataract 48 (CTRCT48) MIM:618415

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 309 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cataract 48
Hydrocephalus, nonsyndromic, autosomal recessive 1

Disease | ImmuneIEDB

Conditions an epitope on DNMBP was assayed in.

chronic lymphocytic leukemia T cell

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): 0.72
gnomAD pLI: 0
gnomAD missense Z: 0.65
DepMap mean gene effect: 0.07
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

guanyl-nucleotide exchange factor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Dbl homology domain
Guanine-nucleotide dissociation stimulator, CDC24, conserved site
SH3 domain
BAR domain
AH/BAR domain superfamily
Dbl homology (DH) domain superfamily
SH3-like domain superfamily
Dynamin-binding and Rho GEF
SH3 domain
RhoGEF domain
BAR domain
Variant SH3 domain
Variant SH3 domain
Dynamin-binding protein, first N-terminal SH3 domain
Dynamin-binding protein, second N-terminal SH3 domain
Dynamin-binding protein, third N-terminal SH3 domain
Dynamin-binding protein, first C-terminal SH3 domain

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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