ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures
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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:AIF1L

Protein Summary

check button Gene summary
Gene name: AIF1L
ASpdb.0 ID: 83543
Gene
Gene symbol

AIF1L

Gene ID

83543

Gene nameallograft inflammatory factor 1 like
SynonymsC9orf58|IBA2
Cytomap

9q34.12-q34.13

Type of geneprotein-coding
Descriptionallograft inflammatory factor 1-likeionized calcium binding adapter molecule 2
Modification date20240403
UniProtAcc

Q9BQI0


check button Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
GeneAIF1L

GO:0005884

actin filament

18699778

GeneAIF1L

GO:0005925

focal adhesion

-

GeneAIF1L

GO:0015629

actin cytoskeleton

-

GeneAIF1L

GO:0051015

actin filament binding

18699778



AS Summary

check button Information of the canonical protein with experimentally identified structure from PDB (2023).
UniProt AccFile namePDB IDMethodResolutionChainStartEnd
Q9BQI0-1Q9BQI0-1_2jjz_C.pdb2JJZX-ray2.15C13127

check button ASpdb's canonical and alternatively spliced isoform information.
accession_idgene_namecanonical_idalternative_idcanonical_lengthalternative_lengthcanonical_startcanonical_endtypeoriginalSEQvariationSEQalternative_startalternative_end
Q9BQI0AIF1LQ9BQI0-1Q9BQI0-21501763131SubstitutionRRYCAGREPQLQRISCSQHSCLLALLFQ3157
Q9BQI0AIF1LQ9BQI0-1Q9BQI0-31501426067Deletionnonenone5959
Q9BQI0AIF1LQ9BQI0-1Q9BQI0-415010299102SubstitutionVSDTSHDV99102
Q9BQI0AIF1LQ9BQI0-1Q9BQI0-4150102103150Deletionnonenone102102

check buttonMultiple sequence alignment of our canonical and alternatively spliced AIF1L

check button Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of AIF1L
UniProt-idENSGENSTENSP
Q9BQI0-1ENSG00000126878.13ENST00000247291.8ENSP00000247291.3
Q9BQI0-2ENSG00000126878.13ENST00000372309.7ENSP00000361383.3
Q9BQI0-3ENSG00000126878.13ENST00000372302.5ENSP00000361376.1
Q9BQI0-4ENSG00000126878.13ENST00000372300.5ENSP00000361374.1

UniProt-idNM IDNP ID
Q9BQI0-1NM_031426.3NP_113614.1
Q9BQI0-2NM_001185095.1NP_001172024.1
Q9BQI0-4NM_001185096.1NP_001172025.1

check buttonAmino acid sequences of our canonical and alternatively spliced AIF1L
accession_idProtein sequence
Q9BQI0-1MSGELSNRFQGGKAFGLLKARQERRLAEINREFLCDQKYSDEENLPEKLTAFKEKYMEFDLNNEGEIDLMSLKRMMEKLGVPKTHLEMKK
Q9BQI0-2MSGELSNRFQGGKAFGLLKARQERRLAEINRYCAGREPQLQRISCSQHSCLLALLFQEFLCDQKYSDEENLPEKLTAFKEKYMEFDLNNE
Q9BQI0-3MSGELSNRFQGGKAFGLLKARQERRLAEINREFLCDQKYSDEENLPEKLTAFKEKYMEFDLMSLKRMMEKLGVPKTHLEMKKMISEVTGG
Q9BQI0-4MSGELSNRFQGGKAFGLLKARQERRLAEINREFLCDQKYSDEENLPEKLTAFKEKYMEFDLNNEGEIDLMSLKRMMEKLGVPKTHLEMKK

Protein Functional Features

check buttonMain function of this protein. (from UniProt)
AIF1L (go to UniProt):Q9BQI0

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
Q9BQI0Domain4782Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448Type=Deletion;Start=60;End=67
Q9BQI0Domain83117Note=EF-hand 2%3B degenerate;Ontology_term=ECO:0000305;evidence=ECO:0000305Type=Substitution;Start=99;End=102
Q9BQI0Domain83117Note=EF-hand 2%3B degenerate;Ontology_term=ECO:0000305;evidence=ECO:0000305Type=Deletion;Start=103;End=150
Q9BQI0Region129150Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-liteType=Deletion;Start=103;End=150


Gene Isoform Structures and Expression Levels for AIF1L

check buttonGene structures of our canonical and alternative spliced genes of AIF1L
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
gene isoform structure of AIF1L

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 Q9BQI0-1
3D view using mol* of Q9BQI0-2
3D view using mol* of Q9BQI0-3
3D view using mol* of Q9BQI0-4


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 Q9BQI0-1
all structure
pLDDT distribution across the protein length of Q9BQI0-2
all structure
pLDDT distribution across the protein length of Q9BQI0-3
all structure
pLDDT distribution across the protein length of Q9BQI0-4
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 Q9BQI0-1
all structure
Ramachandran plot of Q9BQI0-4
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
Q9BQI0-10.628250.58199.1270.7160.620.7890.3470.7990.4340.69855,58,59,78,127,128,131,134,136
Q9BQI0-21.0621631.105375.5850.4510.7340.9621.1920.8451.410.80229,30,32,33,34,36,37,38,40,41,43,44,45,49,50,52,53
,54,56,57,60,76,79,80,83
Q9BQI0-30.796540.783174.930.740.6440.7620.3530.9030.3910.5979,50,53,54,55,57,58,59,61,62,67,70,71,119,122,123,
126,128
Q9BQI0-40.882600.931216.090.7380.6150.7251.4230.512.7932.0452,55,56,59,66,67,68,69,72,75,89,91,92,95,96,100,1
01,102

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 Q9BQI0-1_Q9BQI0-1_2jjz_C.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 Q9BQI0-1_2jjz_C_Q9BQI0-2.pdb
3D view using mol* of Q9BQI0-1_2jjz_C_Q9BQI0-3.pdb
3D view using mol* of Q9BQI0-1_2jjz_C_Q9BQI0-4.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 Q9BQI0-1_Q9BQI0-2.pdb
3D view using mol* of Q9BQI0-1_Q9BQI0-3.pdb
3D view using mol* of Q9BQI0-1_Q9BQI0-4.pdb

check button Protein Feature Comparison of the protein sequendary structures among the protiens.
./stats/secondary_structure/figure/Q9BQI0-1_vs_Q9BQI0-2.png
all structure<
./stats/secondary_structure/figure/Q9BQI0-1_vs_Q9BQI0-3.png
all structure<
./stats/secondary_structure/figure/Q9BQI0-1_vs_Q9BQI0-4.png
all structure<

check button Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.
./stats/relative_asa/Q9BQI0-1_vs_Q9BQI0-2.png
all structure<
./stats/relative_asa/Q9BQI0-1_vs_Q9BQI0-3.png
all structure<
./stats/relative_asa/Q9BQI0-1_vs_Q9BQI0-4.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 AIF1L


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

Related Diseases to AIF1L


check button Previous studies relating to the alternative splicing of AIF1L and disease information from the MeSH term (PubMed)
GenePMIDTitleAbstractMeSH IDMeSH term


Clinically important variants in AIF1L


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