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

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	Protein Summary
	AS Summary
	Protein Functional Features
	Gene Isoform Structures and Expression Levels
	Protein Structures
	pLDDT Score Distribution
	Ramachandran Plot of Protein Structures
	Potential Active Site Information
	Protein Structure and Feature Comparision
	Protein-Protein Interaction
	Related Drugs
	Related Diseases
	Clinically Important Variants

Protein:MLXIPL

Protein Summary

Gene summary

Gene name: MLXIPL
ASpdb.0 ID: 51085
	Gene
Gene symbol	MLXIPL
Gene ID	51085
Gene name	MLX interacting protein like
Synonyms	CHREBP\|MIO\|MLX\|MONDOB\|WBSCR14\|WS-bHLH\|bHLHd14
Cytomap	7q11.23
Type of gene	protein-coding
Description	carbohydrate-responsive element-binding proteinMlx interactorWS basic-helix-loop-helix leucine zipper proteinWilliams Beuren syndrome chromosome region 14Williams-Beuren syndrome chromosome region 14 protein 1Williams-Beuren syndrome chromosome regio
Modification date	20240403
UniProtAcc	Q9NP71

Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Gene	MLXIPL	GO:0000785	chromatin	21084751
Gene	MLXIPL	GO:0001216	DNA-binding transcription activator activity	21084751
Gene	MLXIPL	GO:0005654	nucleoplasm	-
Gene	MLXIPL	GO:0005829	cytosol	-
Gene	MLXIPL	GO:0008610	lipid biosynthetic process	21084751
Gene	MLXIPL	GO:0042803	protein homodimerization activity	11230181
Gene	MLXIPL	GO:0140297	DNA-binding transcription factor binding	21084751

AS Summary

Information of the canonical protein with experimentally identified structure from PDB (2023).

UniProt Acc	File name	PDB ID	Method	Resolution	Chain	Start	End
Q9NP71-1	Q9NP71-1_6ygj_B.pdb	6YGJ	X-ray	2.07	B	117	136

ASpdb's canonical and alternatively spliced isoform information.

accession_id	gene_name	canonical_id	alternative_id	canonical_length	alternative_length	canonical_start	canonical_end	type	originalSEQ	variationSEQ	alternative_start	alternative_end
Q9NP71	MLXIPL	Q9NP71-1	Q9NP71-2	852	833	687	705	Deletion	none	none	686	686
Q9NP71	MLXIPL	Q9NP71-1	Q9NP71-3	852	850	647	648	Deletion	none	none	646	646
Q9NP71	MLXIPL	Q9NP71-1	Q9NP71-4	852	831	647	648	Deletion	none	none	646	646
Q9NP71	MLXIPL	Q9NP71-1	Q9NP71-4	852	831	687	705	Deletion	none	none	684	684
Q9NP71	MLXIPL	Q9NP71-1	Q9NP71-5	852	575	558	575	Substitution	QETVPEFPCTFLPPTPAP	AVNGGCQGTSAPCQALGL	558	575
Q9NP71	MLXIPL	Q9NP71-1	Q9NP71-5	852	575	576	852	Deletion	none	none	575	575
Q9NP71	MLXIPL	Q9NP71-1	Q9NP71-6	852	722	176	268	Deletion	none	none	175	175
Q9NP71	MLXIPL	Q9NP71-1	Q9NP71-6	852	722	814	815	Substitution	TV	ST	721	722
Q9NP71	MLXIPL	Q9NP71-1	Q9NP71-6	852	722	816	852	Deletion	none	none	722	722

Multiple sequence alignment of our canonical and alternatively spliced MLXIPL

Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of MLXIPL

UniProt-id	ENSG	ENST	ENSP
Q9NP71-1	ENSG00000009950.16	ENST00000313375.8	ENSP00000320886.3
Q9NP71-2	ENSG00000009950.16	ENST00000429400.6	ENSP00000406296.2
Q9NP71-3	ENSG00000009950.16	ENST00000414749.6	ENSP00000412330.2
Q9NP71-4	ENSG00000009950.16	ENST00000354613.5	ENSP00000346629.1
Q9NP71-5	ENSG00000009950.16	ENST00000345114.9	ENSP00000343767.5

UniProt-id	NM ID	NP ID
Q9NP71-1	NM_032951.2	NP_116569.1
Q9NP71-2	NM_032952.2	NP_116570.1
Q9NP71-3	NM_032953.2	NP_116571.1
Q9NP71-4	NM_032954.2	NP_116572.1

Amino acid sequences of our canonical and alternatively spliced MLXIPL

accession_id	Protein sequence
Q9NP71-1	MAGALAGLAAGLQVPRVAPSPDSDSDTDSEDPSLRRSAGGLLRSQVIHSGHFMVSSPHSDSLPRRRDQEGSVGPSDFGPRSIDPTLTRLF ECLSLAYSGKLVSPKWKNFKGLKLLCRDKIRLNNAIWRAWYIQYVKRRKSPVCGFVTPLQGPEADAHRKPEAVVLEGNYWKRRIEVVMRE YHKWRIYYKKRLRKPSREDDLLAPKQAEGRWPPPEQWCKQLFSSVVPVLLGDPEEEPGGRQLLDLNCFLSDISDTLFTMTQSGPSPLQLP PEDAYVGNADMIQPDLTPLQPSLDDFMDISDFFTNSRLPQPPMPSNFPEPPSFSPVVDSLFSSGTLGPEVPPASSAMTHLSGHSRLQARN SCPGPLDSSAFLSSDFLLPEDPKPRLPPPPVPPPLLHYPPPAKVPGLEPCPPPPFPPMAPPTALLQEEPLFSPRFPFPTVPPAPGVSPLP APAAFPPTPQSVPSPAPTPFPIELLPLGYSEPAFGPCFSMPRGKPPAPSPRGQKASPPTLAPATASPPTTAGSNNPCLTQLLTAAKPEQA LEPPLVSSTLLRSPGSPQETVPEFPCTFLPPTPAPTPPRPPPGPATLAPSRPLLVPKAERLSPPAPSGSERRLSGDLSSMPGPGTLSVRV SPPQPILSRGRPDSNKTENRRITHISAEQKRRFNIKLGFDTLHGLVSTLSAQPSLKVSKATTLQKTAEYILMLQQERAGLQEEAQQLRDE IEELNAAINLCQQQLPATGVPITHQRFDQMRDMFDDYVRTRTLHNWKFWVFSILIRPLFESFNGMVSTASVHTLRQTSLAWLDQYCSLPA
Q9NP71-2	MAGALAGLAAGLQVPRVAPSPDSDSDTDSEDPSLRRSAGGLLRSQVIHSGHFMVSSPHSDSLPRRRDQEGSVGPSDFGPRSIDPTLTRLF ECLSLAYSGKLVSPKWKNFKGLKLLCRDKIRLNNAIWRAWYIQYVKRRKSPVCGFVTPLQGPEADAHRKPEAVVLEGNYWKRRIEVVMRE YHKWRIYYKKRLRKPSREDDLLAPKQAEGRWPPPEQWCKQLFSSVVPVLLGDPEEEPGGRQLLDLNCFLSDISDTLFTMTQSGPSPLQLP PEDAYVGNADMIQPDLTPLQPSLDDFMDISDFFTNSRLPQPPMPSNFPEPPSFSPVVDSLFSSGTLGPEVPPASSAMTHLSGHSRLQARN SCPGPLDSSAFLSSDFLLPEDPKPRLPPPPVPPPLLHYPPPAKVPGLEPCPPPPFPPMAPPTALLQEEPLFSPRFPFPTVPPAPGVSPLP APAAFPPTPQSVPSPAPTPFPIELLPLGYSEPAFGPCFSMPRGKPPAPSPRGQKASPPTLAPATASPPTTAGSNNPCLTQLLTAAKPEQA LEPPLVSSTLLRSPGSPQETVPEFPCTFLPPTPAPTPPRPPPGPATLAPSRPLLVPKAERLSPPAPSGSERRLSGDLSSMPGPGTLSVRV SPPQPILSRGRPDSNKTENRRITHISAEQKRRFNIKLGFDTLHGLVSTLSAQPSLKERAGLQEEAQQLRDEIEELNAAINLCQQQLPATG VPITHQRFDQMRDMFDDYVRTRTLHNWKFWVFSILIRPLFESFNGMVSTASVHTLRQTSLAWLDQYCSLPALRPTVLNSLRQLGTSTSIL
Q9NP71-3	MAGALAGLAAGLQVPRVAPSPDSDSDTDSEDPSLRRSAGGLLRSQVIHSGHFMVSSPHSDSLPRRRDQEGSVGPSDFGPRSIDPTLTRLF ECLSLAYSGKLVSPKWKNFKGLKLLCRDKIRLNNAIWRAWYIQYVKRRKSPVCGFVTPLQGPEADAHRKPEAVVLEGNYWKRRIEVVMRE YHKWRIYYKKRLRKPSREDDLLAPKQAEGRWPPPEQWCKQLFSSVVPVLLGDPEEEPGGRQLLDLNCFLSDISDTLFTMTQSGPSPLQLP PEDAYVGNADMIQPDLTPLQPSLDDFMDISDFFTNSRLPQPPMPSNFPEPPSFSPVVDSLFSSGTLGPEVPPASSAMTHLSGHSRLQARN SCPGPLDSSAFLSSDFLLPEDPKPRLPPPPVPPPLLHYPPPAKVPGLEPCPPPPFPPMAPPTALLQEEPLFSPRFPFPTVPPAPGVSPLP APAAFPPTPQSVPSPAPTPFPIELLPLGYSEPAFGPCFSMPRGKPPAPSPRGQKASPPTLAPATASPPTTAGSNNPCLTQLLTAAKPEQA LEPPLVSSTLLRSPGSPQETVPEFPCTFLPPTPAPTPPRPPPGPATLAPSRPLLVPKAERLSPPAPSGSERRLSGDLSSMPGPGTLSVRV SPPQPILSRGRPDSNKNRRITHISAEQKRRFNIKLGFDTLHGLVSTLSAQPSLKVSKATTLQKTAEYILMLQQERAGLQEEAQQLRDEIE ELNAAINLCQQQLPATGVPITHQRFDQMRDMFDDYVRTRTLHNWKFWVFSILIRPLFESFNGMVSTASVHTLRQTSLAWLDQYCSLPALR
Q9NP71-4	MAGALAGLAAGLQVPRVAPSPDSDSDTDSEDPSLRRSAGGLLRSQVIHSGHFMVSSPHSDSLPRRRDQEGSVGPSDFGPRSIDPTLTRLF ECLSLAYSGKLVSPKWKNFKGLKLLCRDKIRLNNAIWRAWYIQYVKRRKSPVCGFVTPLQGPEADAHRKPEAVVLEGNYWKRRIEVVMRE YHKWRIYYKKRLRKPSREDDLLAPKQAEGRWPPPEQWCKQLFSSVVPVLLGDPEEEPGGRQLLDLNCFLSDISDTLFTMTQSGPSPLQLP PEDAYVGNADMIQPDLTPLQPSLDDFMDISDFFTNSRLPQPPMPSNFPEPPSFSPVVDSLFSSGTLGPEVPPASSAMTHLSGHSRLQARN SCPGPLDSSAFLSSDFLLPEDPKPRLPPPPVPPPLLHYPPPAKVPGLEPCPPPPFPPMAPPTALLQEEPLFSPRFPFPTVPPAPGVSPLP APAAFPPTPQSVPSPAPTPFPIELLPLGYSEPAFGPCFSMPRGKPPAPSPRGQKASPPTLAPATASPPTTAGSNNPCLTQLLTAAKPEQA LEPPLVSSTLLRSPGSPQETVPEFPCTFLPPTPAPTPPRPPPGPATLAPSRPLLVPKAERLSPPAPSGSERRLSGDLSSMPGPGTLSVRV SPPQPILSRGRPDSNKNRRITHISAEQKRRFNIKLGFDTLHGLVSTLSAQPSLKERAGLQEEAQQLRDEIEELNAAINLCQQQLPATGVP ITHQRFDQMRDMFDDYVRTRTLHNWKFWVFSILIRPLFESFNGMVSTASVHTLRQTSLAWLDQYCSLPALRPTVLNSLRQLGTSTSILTD
Q9NP71-5	MAGALAGLAAGLQVPRVAPSPDSDSDTDSEDPSLRRSAGGLLRSQVIHSGHFMVSSPHSDSLPRRRDQEGSVGPSDFGPRSIDPTLTRLF ECLSLAYSGKLVSPKWKNFKGLKLLCRDKIRLNNAIWRAWYIQYVKRRKSPVCGFVTPLQGPEADAHRKPEAVVLEGNYWKRRIEVVMRE YHKWRIYYKKRLRKPSREDDLLAPKQAEGRWPPPEQWCKQLFSSVVPVLLGDPEEEPGGRQLLDLNCFLSDISDTLFTMTQSGPSPLQLP PEDAYVGNADMIQPDLTPLQPSLDDFMDISDFFTNSRLPQPPMPSNFPEPPSFSPVVDSLFSSGTLGPEVPPASSAMTHLSGHSRLQARN SCPGPLDSSAFLSSDFLLPEDPKPRLPPPPVPPPLLHYPPPAKVPGLEPCPPPPFPPMAPPTALLQEEPLFSPRFPFPTVPPAPGVSPLP APAAFPPTPQSVPSPAPTPFPIELLPLGYSEPAFGPCFSMPRGKPPAPSPRGQKASPPTLAPATASPPTTAGSNNPCLTQLLTAAKPEQA
Q9NP71-6	MAGALAGLAAGLQVPRVAPSPDSDSDTDSEDPSLRRSAGGLLRSQVIHSGHFMVSSPHSDSLPRRRDQEGSVGPSDFGPRSIDPTLTRLF ECLSLAYSGKLVSPKWKNFKGLKLLCRDKIRLNNAIWRAWYIQYVKRRKSPVCGFVTPLQGPEADAHRKPEAVVLEGNYWKRRIELPPED AYVGNADMIQPDLTPLQPSLDDFMDISDFFTNSRLPQPPMPSNFPEPPSFSPVVDSLFSSGTLGPEVPPASSAMTHLSGHSRLQARNSCP GPLDSSAFLSSDFLLPEDPKPRLPPPPVPPPLLHYPPPAKVPGLEPCPPPPFPPMAPPTALLQEEPLFSPRFPFPTVPPAPGVSPLPAPA AFPPTPQSVPSPAPTPFPIELLPLGYSEPAFGPCFSMPRGKPPAPSPRGQKASPPTLAPATASPPTTAGSNNPCLTQLLTAAKPEQALEP PLVSSTLLRSPGSPQETVPEFPCTFLPPTPAPTPPRPPPGPATLAPSRPLLVPKAERLSPPAPSGSERRLSGDLSSMPGPGTLSVRVSPP QPILSRGRPDSNKTENRRITHISAEQKRRFNIKLGFDTLHGLVSTLSAQPSLKVSKATTLQKTAEYILMLQQERAGLQEEAQQLRDEIEE LNAAINLCQQQLPATGVPITHQRFDQMRDMFDDYVRTRTLHNWKFWVFSILIRPLFESFNGMVSTASVHTLRQTSLAWLDQYCSLPALRP

Protein Functional Features

Main function of this protein. (from UniProt)

MLXIPL (go to UniProt):Q9NP71

Retention 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_id	Subsection	Start	End	Funcitonal feature	Splicing information
Q9NP71	Domain	649	703	Note=BHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00981	Type=Deletion;Start=687;End=705
Q9NP71	Domain	649	703	Note=BHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00981	Type=Deletion;Start=687;End=705
Q9NP71	Domain	649	703	Note=BHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00981	Type=Deletion;Start=576;End=852
Q9NP71	Region	548	648	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=647;End=648
Q9NP71	Region	548	648	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=647;End=648
Q9NP71	Region	548	648	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Substitution;Start=558;End=575
Q9NP71	Region	548	648	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=576;End=852
Q9NP71	Region	703	724	Note=Leucine-zipper	Type=Deletion;Start=687;End=705
Q9NP71	Region	703	724	Note=Leucine-zipper	Type=Deletion;Start=687;End=705
Q9NP71	Region	703	724	Note=Leucine-zipper	Type=Deletion;Start=576;End=852
Q9NP71	Compositional bias	564	589	Note=Pro residues;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Substitution;Start=558;End=575
Q9NP71	Compositional bias	564	589	Note=Pro residues;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=576;End=852

Gene Isoform Structures and Expression Levels for MLXIPL

Gene structures of our canonical and alternative spliced genes of MLXIPL
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Expression levels of gene isoforms across GTEx.

Expression levels of gene isoforms across TCGA.

Protein Structures

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 Q9NP71-1

3D view using mol* of Q9NP71-2

3D view using mol* of Q9NP71-3

3D view using mol* of Q9NP71-4

3D view using mol* of Q9NP71-5

3D view using mol* of Q9NP71-6

pLDDT Score Distribution

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 Q9NP71-1

pLDDT distribution across the protein length of Q9NP71-2

pLDDT distribution across the protein length of Q9NP71-3

pLDDT distribution across the protein length of Q9NP71-4

pLDDT distribution across the protein length of Q9NP71-5

pLDDT distribution across the protein length of Q9NP71-6

Ramachandran Plot of Protein Structures

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.

Ramachandran plot of Q9NP71-1

Ramachandran plot of Q9NP71-2

Ramachandran plot of Q9NP71-3

Potential Active Site Information

The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.

UniProt-id	Site score	Size	D score	Volume	Exposure	Enclosure	Contact	Phobic	Philic	Balance	Don/Acc	Residues
Q9NP71-1	1.031	114	1.043	317.275	0.517	0.745	0.986	0.706	1.056	0.669	0.901	751,754,755,758,759,769,772,773,776,777,780,814,81 7,818,821,825,826,838,841,842,843,846,847,850,851, 852
Q9NP71-2	1.113	278	1.209	1105.832	0.614	0.702	0.872	1.868	0.466	4.01	1.019	215,218,219,221,222,225,228,229,242,243,244,245,24 6,248,249,252,253,256,257,724,727,728,731,734,735, 738,739,742,745,746,747,748,749,751,752,753,755,75 6,759,760,763,764,767,768,769,772,775,776,779,780, 782,783,792,796,800
Q9NP71-3	1.031	125	1.101	306.985	0.606	0.642	0.839	1.332	0.687	1.937	1.371	76,77,78,79,80,81,82,83,88,89,92,93,96,97,108,109, 112,113,114,115,118,122
Q9NP71-4	0.885	72	0.897	137.886	0.544	0.648	0.859	0.432	0.887	0.486	1.718	722,725,726,728,729,761,762,763,765,766,767,768
Q9NP71-5	0.619	22	0.586	134.456	0.836	0.602	0.689	0.26	0.663	0.393	1.245	133,134,137,139,145,146,147,150,151
Q9NP71-6	1.093	97	1.192	351.918	0.604	0.679	0.867	2.019	0.433	4.663	1.008	89,92,93,96,97,101,103,104,105,108,109,112,114,118 ,121,122,124,125,126,128,129,132,140,141,142,143,1 45

Protein Structure and Feature Comparision

Protein Structure Comparision Using Template Modeling Scores (TM-score).

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)

3D view using mol* of Q9NP71-1_Q9NP71-1_6ygj_B.pdb

Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q9NP71-1_6ygj_B_Q9NP71-2.pdb

3D view using mol* of Q9NP71-1_6ygj_B_Q9NP71-3.pdb

3D view using mol* of Q9NP71-1_6ygj_B_Q9NP71-4.pdb

3D view using mol* of Q9NP71-1_6ygj_B_Q9NP71-5.pdb

3D view using mol* of Q9NP71-1_6ygj_B_Q9NP71-6.pdb

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q9NP71-1_Q9NP71-2.pdb

3D view using mol* of Q9NP71-1_Q9NP71-3.pdb

3D view using mol* of Q9NP71-1_Q9NP71-4.pdb

3D view using mol* of Q9NP71-1_Q9NP71-5.pdb

3D view using mol* of Q9NP71-1_Q9NP71-6.pdb

Protein Feature Comparison of the protein sequendary structures among the protiens.

./stats/secondary_structure/figure/Q9NP71-1_vs_Q9NP71-2.png