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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:DLX5

Protein Summary

check button Gene summary
Gene name: DLX5
ASpdb.0 ID: 1749
Gene
Gene symbol

DLX5

Gene ID

1749

Gene namedistal-less homeobox 5
SynonymsSHFM1|SHFM1D
Cytomap

7q21.3

Type of geneprotein-coding
Descriptionhomeobox protein DLX-5distal-less homeo box 5split hand/foot malformation type 1 with sensorineural hearing loss
Modification date20240305
UniProtAcc

P56178


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneDLX5

GO:0000976

transcription cis-regulatory region binding

19497851

GeneDLX5

GO:0008283

cell population proliferation

19497851

GeneDLX5

GO:0045893

positive regulation of DNA-templated transcription

19497851

GeneDLX5

GO:1990837

sequence-specific double-stranded DNA binding

28473536



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
P56178-1P56178-1_4rdu_D.pdb4RDUX-ray1.85D137198

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
P56178DLX5P56178-1P56178-2289191182289SubstitutionKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWEPQGSSRSLSHHPHAHPPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHPLALASGTLYNTALPCTRPA182191

check buttonMultiple sequence alignment of our canonical and alternatively spliced DLX5

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of DLX5
UniProt-idENSGENSTENSP
P56178-1ENSG00000105880.7ENST00000648378.1ENSP00000498116.1
P56178-2ENSG00000105880.7ENST00000486603.2ENSP00000475008.1

UniProt-idNM IDNP ID
P56178-1NM_005221.5NP_005212.1

check buttonAmino acid sequences of our canonical and alternatively spliced DLX5
accession_idProtein sequence
P56178-1MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCSPTSASYGKALNPYQYQYHGVNGSAGSYPAK
AYADYSYASSYHQYGGAYNRVPSATNQPEKEVTEPEVRMVNGKPKKVRKPRTIYSSFQLAALQRRFQKTQYLALPERAELAASLGLTQTQ
VKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWEPQGSSRSLSHHPHAHPPTSNQSPASSYLENSASWYTSAASSINSH
P56178-2MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCSPTSASYGKALNPYQYQYHGVNGSAGSYPAK
AYADYSYASSYHQYGGAYNRVPSATNQPEKEVTEPEVRMVNGKPKKVRKPRTIYSSFQLAALQRRFQKTQYLALPERAELAASLGLTQTQ

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
DLX5 (go to UniProt):P56178

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
P56178DNA binding137196Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108Type=Substitution;Start=182;End=289
P56178Region198251Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=182;End=289
P56178Region270289Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=182;End=289
P56178Compositional bias203251Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Substitution;Start=182;End=289


Gene Isoform Structures and Expression Levels for DLX5

check buttonGene structures of our canonical and alternative spliced genes of DLX5
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of DLX5

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 P56178-1
3D view using mol* of P56178-2


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 P56178-1
all structure
pLDDT distribution across the protein length of P56178-2
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 P56178-1
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
P56178-10.809440.805159.1520.7140.6840.8290.9250.7021.3190.651144,149,153,183,184,187,188,259,260,261,262
P56178-20.922820.977140.9730.5840.5840.8660.7420.691.0761.178123,124,125,126,127,128,129,130,132,133,134,135,13
7,138,139,140

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 P56178-1_P56178-1_4rdu_D.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 P56178-1_4rdu_D_P56178-2.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 P56178-1_P56178-2.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/P56178-1_vs_P56178-2.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/P56178-1_vs_P56178-2.png
all structure<


Protein-Protein Interaction


check button Interactors from UniProt.
Accession_idSubsectionStartEndFuncitonal featureSplicing information


check button Interactors from STRING.
Gene nameInteractors


Related Drugs to DLX5


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

Related Diseases to DLX5


check button Previous studies relating to the alternative splicing of DLX5 and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in DLX5


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