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Center for Computational Systems Medicine
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Protein Summary

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AS Summary

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Protein Functional Features

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Gene Isoform Structures and Expression Levels

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Protein Structures

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pLDDT Score Distribution

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Ramachandran Plot of Protein Structures

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Potential Active Site Information

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Protein Structure and Feature Comparision

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Protein-Protein Interaction

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Related Drugs

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Related Diseases

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Clinically Important Variants

Protein:MYO3A

Protein Summary

check button Gene summary
Gene name: MYO3A
ASpdb.0 ID: 53904
Gene
Gene symbol

MYO3A

Gene ID

53904

Gene namemyosin IIIA
SynonymsDFNA90|DFNB30
Cytomap

10p12.1

Type of geneprotein-coding
Descriptionmyosin-IIIaepididymis secretory sperm binding protein
Modification date20240403
UniProtAcc

Q8NEV4


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneMYO3A

GO:0000146

microfilament motor activity

1262820|12672820

GeneMYO3A

GO:0004672

protein kinase activity

12672820

GeneMYO3A

GO:0005516

calmodulin binding

12672820

GeneMYO3A

GO:0005737

cytoplasm

25822849

GeneMYO3A

GO:0030175

filopodium

17021180

GeneMYO3A

GO:0031941

filamentous actin

12672820

GeneMYO3A

GO:0032433

filopodium tip

25822849

GeneMYO3A

GO:0043531

ADP binding

12672820

GeneMYO3A

GO:0046777

protein autophosphorylation

12672820

GeneMYO3A

GO:0060002

plus-end directed microfilament motor activity

12672820



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
Q8NEV4-1Q8NEV4-1_6jle_E.pdb6JLEX-ray1.55E14101457

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
Q8NEV4MYO3AQ8NEV4-1Q8NEV4-21616247245247SubstitutionNPPSDD245247
Q8NEV4MYO3AQ8NEV4-1Q8NEV4-216162472481616Deletionnonenone247247

check buttonMultiple sequence alignment of our canonical and alternatively spliced MYO3A

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of MYO3A
UniProt-idENSGENSTENSP
Q8NEV4-1ENSG00000095777.17ENST00000642920.2ENSP00000495965.1
Q8NEV4-2ENSG00000095777.17ENST00000376302.5ENSP00000365479.1

UniProt-idNM IDNP ID
Q8NEV4-1NM_017433.4NP_059129.3
Q8NEV4-1XM_011519498.2XP_011517800.1
Q8NEV4-1XM_011519499.1XP_011517801.1
Q8NEV4-1XM_011519500.2XP_011517802.1

check buttonAmino acid sequences of our canonical and alternatively spliced MYO3A
accession_idProtein sequence
Q8NEV4-1MFPLIGKTIIFDNFPDPSDTWEITETIGKGTYGKVFKVLNKKNGQKAAVKILDPIHDIDEEIEAEYNILKALSDHPNVVRFYGIYFKKDK
VNGDKLWLVLELCSGGSVTDLVKGFLKRGERMSEPLIAYILHEALMGLQHLHNNKTIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRH
RRNTSVGTPFWMAPEVIACEQQLDTTYDARCDTWSLGITAIELGDGDPPLADLHPMRALFKIPRNPPPKLRQPELWSAEFNDFISKCLTK
DYEKRPTVSELLQHKFITQIEGKDVMLQKQLTEFIGIHQCMGGTEKARRERIHTKKGNFNRPLISNLKDVDDLATLEILDENTVSEQLEK
CYSRDQIYVYVGDILIALNPFQSLGLYSTKHSKLYIGSKRTASPPHIFAMADLGYQSMITYNSDQCIVISGESGAGKTENAHLLVQQLTV
LGKANNRTLQEKILQVNNLVEAFGNACTIINDNSSRFGKYLEMKFTSSGAVVGAQISEYLLEKSRVIHQAIGEKNFHIFYYIYAGLAEKK
KLAHYKLPENKPPRYLQNDHLRTVQDIMNNSFYKSQYELIEQCFKVIGFTMEQLGSIYSILAAILNVGNIEFSSVATEHQIDKSHISNHT
ALENCASLLCIRADELQEALTSHCVVTRGETIIRPNTVEKATDVRDAMAKTLYGRLFSWIVNCINSLLKHDSSPSGNGDELSIGILDIFG
FENFKKNSFEQLCINIANEQIQYYYNQHVFAWEQNEYLNEDVDARVIEYEDNWPLLDMFLQKPMGLLSLLDEESRFPKATDQTLVEKFEG
NLKSQYFWRPKRMELSFGIHHYAGKVLYNASGFLAKNRDTLPTDIVLLLRSSDNSVIRQLVNHPLTKTGNLPHSKTKNVINYQMRTSEKL
INLAKGDTGEATRHARETTNMKTQTVASYFRYSLMDLLSKMVVGQPHFVRCIKPNSERQARKYDKEKVLLQLRYTGILETARIRRLGFSH
RILFANFIKRYYLLCYKSSEEPRMSPDTCATILEKAGLDNWALGKTKVFLKYYHVEQLNLMRKEAIDKLILIQACVRAFLCSRRYQKIQE
KRKESAIIIQSAARGHLVRKQRKEIVDMKNTAVTTIQTSDQEFDYKKNFENTRESFVKKQAENAISANERFISAPNNKGSVSVVKTSTFK
PEEETTNAVESNNRVYQTPKKMNNVYEEEVKQEFYLVGPEVSPKQKSVKDLEENSNLRKVEKEEAMIQSYYQRYTEERNCEESKAAYLER
KAISERPSYPVPWLAENETSFKKTLEPTLSQRSIYQNANSMEKEKKTSVVTQRAPICSQEEGRGRLRHETVKERQVEPVTQAQEEEDKAA
VFIQSKYRGYKRRQQLRKDKMSSFKHQRIVTTPTEVARNTHNLYSYPTKHEEINNIKKKDNKDSKATSEREACGLAIFSKQISKLSEEYF
ILQKKLNEMILSQQLKSLYLGVSHHKPINRRVSSQQCLSGVCKGEEPKILRPPRRPRKPKTLNNPEDSTYYYLLHKSIQEEKRRPRKDSQ
Q8NEV4-2MFPLIGKTIIFDNFPDPSDTWEITETIGKGTYGKVFKVLNKKNGQKAAVKILDPIHDIDEEIEAEYNILKALSDHPNVVRFYGIYFKKDK
VNGDKLWLVLELCSGGSVTDLVKGFLKRGERMSEPLIAYILHEALMGLQHLHNNKTIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRH

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
MYO3A (go to UniProt):Q8NEV4

check buttonRetention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
Q8NEV4Domain21287Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159Type=Substitution;Start=245;End=247
Q8NEV4Domain21287Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159Type=Deletion;Start=248;End=1616
Q8NEV4Domain3381053Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782Type=Deletion;Start=248;End=1616
Q8NEV4Domain10551084Note=IQ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116Type=Deletion;Start=248;End=1616
Q8NEV4Domain10821111Note=IQ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116Type=Deletion;Start=248;End=1616
Q8NEV4Domain13461375Note=IQ 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116Type=Deletion;Start=248;End=1616
Q8NEV4Region934956Note=Actin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782Type=Deletion;Start=248;End=1616
Q8NEV4Region14011479Note=Interaction with MORN4;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25822849;Dbxref=PMID:25822849Type=Deletion;Start=248;End=1616
Q8NEV4Region15451567Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=248;End=1616
Q8NEV4Region15811616Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=248;End=1616
Q8NEV4Compositional bias15451561Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=248;End=1616
Q8NEV4Compositional bias15811598Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=248;End=1616


Gene Isoform Structures and Expression Levels for MYO3A

check buttonGene structures of our canonical and alternative spliced genes of MYO3A
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of MYO3A

check button Expression levels of gene isoforms across GTEx.
gtex expression

check button Expression levels of gene isoforms across TCGA.
tcga expression


Protein Structures

check button PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
3D view using mol* of Q8NEV4-1
3D view using mol* of Q8NEV4-2


pLDDT Score Distribution

check button pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
pLDDT distribution across the protein length of Q8NEV4-1
all structure
pLDDT distribution across the protein length of Q8NEV4-2
all structure


Ramachandran Plot of Protein Structures


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.
Ramachandran plot of Q8NEV4-1
all structure

Potential Active Site Information


check button The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.
UniProt-idSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
Q8NEV4-11.1232721.107575.8970.3430.8811.1431.0961.110.9870.67486,508,509,510,511,512,513,514,517,654,680,681,68
4,685,687,688,719,729,730,733,734,846,849,850,851,
852,853,856,860,871,873,874,875,878,879,880,881,91
8,921,922,924,926,929,930,933
Q8NEV4-21.0571481.081452.0740.50.7640.9981.1320.9741.1621.06527,28,30,31,32,33,35,48,50,52,58,61,62,65,69,79,10
0,101,102,103,104,106,148,150,152,154,155,157,167,
168,169,170,171,172,184,185,187

Protein Structure and Feature Comparision


check button Protein Structure Comparision Using Template Modeling Scores (TM-score).
all structure

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)
3D view using mol* of Q8NEV4-1_Q8NEV4-1_6jle_E.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of Q8NEV4-1_6jle_E_Q8NEV4-2.pdb

check button Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)
3D view using mol* of Q8NEV4-1_Q8NEV4-2.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/Q8NEV4-1_vs_Q8NEV4-2.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/Q8NEV4-1_vs_Q8NEV4-2.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information
Q8NEV4Region14011479Note=Interaction with MORN4;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25822849;Dbxref=PMID:25822849Type=Deletion;Start=248;End=1616


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to MYO3A


check button Drugs targeting this gene/protein.
(DrugBank)
UniProt accessionGene nameDrugBank IDDrug nameDrug groupActions
Q8NEV4MYO3ADB12010Fostamatinibapproved, investigationalinhibitor

Related Diseases to MYO3A


check button Previous studies relating to the alternative splicing of MYO3A and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in MYO3A


check button (ClinVar, 04/20/2024)
accession_iduniprot_idgene_nameTypeVariantClinical_significance