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Entry version 170 (13 Nov 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Carbohydrate-responsive element-binding protein

Gene

MLXIPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By similarity).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-163358 PKA-mediated phosphorylation of key metabolic factors
R-HSA-163680 AMPK inhibits chREBP transcriptional activation activity
R-HSA-163765 ChREBP activates metabolic gene expression
R-HSA-163767 PP2A-mediated dephosphorylation of key metabolic factors

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9NP71

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Carbohydrate-responsive element-binding protein
Short name:
ChREBP
Alternative name(s):
Class D basic helix-loop-helix protein 14
Short name:
bHLHd14
MLX interactor
MLX-interacting protein-like
WS basic-helix-loop-helix leucine zipper protein
Short name:
WS-bHLH
Williams-Beuren syndrome chromosomal region 14 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MLXIPL
Synonyms:BHLHD14, MIO, WBSCR14
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:12744 MLXIPL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605678 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NP71

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

WBSCR14 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.1 Publication

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
51085

MalaCards human disease database

More...
MalaCardsi
MLXIPL

Open Targets

More...
OpenTargetsi
ENSG00000009950

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37353

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NP71

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MLXIPL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20140871

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001275041 – 852Carbohydrate-responsive element-binding proteinAdd BLAST852

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei20PhosphoserineCombined sources1
Modified residuei23PhosphoserineCombined sources1
Modified residuei25PhosphoserineCombined sources1
Modified residuei27PhosphothreonineCombined sources1
Modified residuei29PhosphoserineCombined sources1
Modified residuei196PhosphoserineCombined sources1
Modified residuei556Phosphoserine; by AMPKBy similarity1
Modified residuei602PhosphoserineCombined sources1
Modified residuei614PhosphoserineCombined sources1
Modified residuei631PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NP71

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NP71

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NP71

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NP71

PeptideAtlas

More...
PeptideAtlasi
Q9NP71

PRoteomics IDEntifications database

More...
PRIDEi
Q9NP71

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81900 [Q9NP71-1]
81901 [Q9NP71-2]
81902 [Q9NP71-3]
81903 [Q9NP71-4]
81904 [Q9NP71-5]
81905 [Q9NP71-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NP71

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NP71

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in liver, heart, kidney, cerebellum and intestinal tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000009950 Expressed in 159 organ(s), highest expression level in right lobe of liver

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NP71 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NP71 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA064640

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds DNA as a heterodimer with TCFL4/MLX.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119275, 7 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NP71, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000320886

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NP71

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini649 – 703bHLHPROSITE-ProRule annotationAdd BLAST55

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni703 – 724Leucine-zipperAdd BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi387 – 394Poly-Pro8
Compositional biasi409 – 417Poly-Pro9

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3582 Eukaryota
ENOG410XTA5 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159210

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NP71

KEGG Orthology (KO)

More...
KOi
K09113

Identification of Orthologs from Complete Genome Data

More...
OMAi
CRGRPDN

Database of Orthologous Groups

More...
OrthoDBi
388166at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NP71

TreeFam database of animal gene trees

More...
TreeFami
TF324749

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00010 HLH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50888 BHLH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NP71-1) [UniParc]FASTAAdd to basket
Also known as: Alpha

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAGALAGLAA GLQVPRVAPS PDSDSDTDSE DPSLRRSAGG LLRSQVIHSG
60 70 80 90 100
HFMVSSPHSD SLPRRRDQEG SVGPSDFGPR SIDPTLTRLF ECLSLAYSGK
110 120 130 140 150
LVSPKWKNFK GLKLLCRDKI RLNNAIWRAW YIQYVKRRKS PVCGFVTPLQ
160 170 180 190 200
GPEADAHRKP EAVVLEGNYW KRRIEVVMRE YHKWRIYYKK RLRKPSREDD
210 220 230 240 250
LLAPKQAEGR WPPPEQWCKQ LFSSVVPVLL GDPEEEPGGR QLLDLNCFLS
260 270 280 290 300
DISDTLFTMT QSGPSPLQLP PEDAYVGNAD MIQPDLTPLQ PSLDDFMDIS
310 320 330 340 350
DFFTNSRLPQ PPMPSNFPEP PSFSPVVDSL FSSGTLGPEV PPASSAMTHL
360 370 380 390 400
SGHSRLQARN SCPGPLDSSA FLSSDFLLPE DPKPRLPPPP VPPPLLHYPP
410 420 430 440 450
PAKVPGLEPC PPPPFPPMAP PTALLQEEPL FSPRFPFPTV PPAPGVSPLP
460 470 480 490 500
APAAFPPTPQ SVPSPAPTPF PIELLPLGYS EPAFGPCFSM PRGKPPAPSP
510 520 530 540 550
RGQKASPPTL APATASPPTT AGSNNPCLTQ LLTAAKPEQA LEPPLVSSTL
560 570 580 590 600
LRSPGSPQET VPEFPCTFLP PTPAPTPPRP PPGPATLAPS RPLLVPKAER
610 620 630 640 650
LSPPAPSGSE RRLSGDLSSM PGPGTLSVRV SPPQPILSRG RPDSNKTENR
660 670 680 690 700
RITHISAEQK RRFNIKLGFD TLHGLVSTLS AQPSLKVSKA TTLQKTAEYI
710 720 730 740 750
LMLQQERAGL QEEAQQLRDE IEELNAAINL CQQQLPATGV PITHQRFDQM
760 770 780 790 800
RDMFDDYVRT RTLHNWKFWV FSILIRPLFE SFNGMVSTAS VHTLRQTSLA
810 820 830 840 850
WLDQYCSLPA LRPTVLNSLR QLGTSTSILT DPGRIPEQAT RAVTEGTLGK

PL
Length:852
Mass (Da):93,073
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD49E5C3D7C0A72EC
GO
Isoform 2 (identifier: Q9NP71-2) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     687-705: Missing.

Show »
Length:833
Mass (Da):90,924
Checksum:i1A521C119FEFB2A4
GO
Isoform 3 (identifier: Q9NP71-3) [UniParc]FASTAAdd to basket
Also known as: Gamma

The sequence of this isoform differs from the canonical sequence as follows:
     647-648: Missing.

Show »
Length:850
Mass (Da):92,842
Checksum:i5E09A4F5461A569A
GO
Isoform 4 (identifier: Q9NP71-4) [UniParc]FASTAAdd to basket
Also known as: Delta

The sequence of this isoform differs from the canonical sequence as follows:
     647-648: Missing.
     687-705: Missing.

Show »
Length:831
Mass (Da):90,694
Checksum:i5D385F9A8B65646B
GO
Isoform 5 (identifier: Q9NP71-5) [UniParc]FASTAAdd to basket
Also known as: Epsilon

The sequence of this isoform differs from the canonical sequence as follows:
     558-575: QETVPEFPCTFLPPTPAP → AVNGGCQGTSAPCQALGL
     576-852: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:575
Mass (Da):62,026
Checksum:i246DF8F3B31D36B6
GO
Isoform 6 (identifier: Q9NP71-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     176-268: Missing.
     814-815: TV → ST
     816-852: Missing.

Show »
Length:722
Mass (Da):78,360
Checksum:iC78F185EFC7CE8F6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DG26A0A0C4DG26_HUMAN
Carbohydrate-responsive element-bin...
MLXIPL hCG_18989
721Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JDF5C9JDF5_HUMAN
Carbohydrate-responsive element-bin...
MLXIPL
213Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1V3H7C1V3_HUMAN
Carbohydrate-responsive element-bin...
MLXIPL
235Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti558Missing in AAH12925 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_049556241Q → H. Corresponds to variant dbSNP:rs3812316Ensembl.1
Natural variantiVAR_049557244D → E. Corresponds to variant dbSNP:rs34922362Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_002167176 – 268Missing in isoform 6. 1 PublicationAdd BLAST93
Alternative sequenceiVSP_002168558 – 575QETVP…PTPAP → AVNGGCQGTSAPCQALGL in isoform 5. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_002169576 – 852Missing in isoform 5. 1 PublicationAdd BLAST277
Alternative sequenceiVSP_002170647 – 648Missing in isoform 3 and isoform 4. 2 Publications2
Alternative sequenceiVSP_002171687 – 705Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_002172814 – 815TV → ST in isoform 6. 1 Publication2
Alternative sequenceiVSP_002173816 – 852Missing in isoform 6. 1 PublicationAdd BLAST37

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF156673 Genomic DNA Translation: AAF68176.1
AF156603 mRNA Translation: AAF68174.1
AF245470 mRNA Translation: AAK20935.1
AF245471 mRNA Translation: AAK20936.1
AF245472 mRNA Translation: AAK20937.1
AF245473 mRNA Translation: AAK20938.1
AF245474 mRNA Translation: AAK20939.1
FJ515858 Genomic DNA Translation: ACS13745.1
FJ515858 Genomic DNA Translation: ACS13746.1
FJ515858 Genomic DNA Translation: ACS13748.1
AF056184 mRNA Translation: AAD28084.1
CH471200 Genomic DNA Translation: EAW69660.1
CH471200 Genomic DNA Translation: EAW69661.1
CH471200 Genomic DNA Translation: EAW69662.1
BC012925 mRNA Translation: AAH12925.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS47605.1 [Q9NP71-2]
CCDS47606.1 [Q9NP71-3]
CCDS5553.1 [Q9NP71-1]
CCDS5554.1 [Q9NP71-4]

NCBI Reference Sequences

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RefSeqi
NP_116569.1, NM_032951.2 [Q9NP71-1]
NP_116570.1, NM_032952.2 [Q9NP71-2]
NP_116571.1, NM_032953.2 [Q9NP71-3]
NP_116572.1, NM_032954.2 [Q9NP71-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000313375; ENSP00000320886; ENSG00000009950 [Q9NP71-1]
ENST00000345114; ENSP00000343767; ENSG00000009950 [Q9NP71-5]
ENST00000354613; ENSP00000346629; ENSG00000009950 [Q9NP71-4]
ENST00000414749; ENSP00000412330; ENSG00000009950 [Q9NP71-3]
ENST00000429400; ENSP00000406296; ENSG00000009950 [Q9NP71-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51085

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51085

UCSC genome browser

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UCSCi
uc003tyk.1 human [Q9NP71-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF156673 Genomic DNA Translation: AAF68176.1
AF156603 mRNA Translation: AAF68174.1
AF245470 mRNA Translation: AAK20935.1
AF245471 mRNA Translation: AAK20936.1
AF245472 mRNA Translation: AAK20937.1
AF245473 mRNA Translation: AAK20938.1
AF245474 mRNA Translation: AAK20939.1
FJ515858 Genomic DNA Translation: ACS13745.1
FJ515858 Genomic DNA Translation: ACS13746.1
FJ515858 Genomic DNA Translation: ACS13748.1
AF056184 mRNA Translation: AAD28084.1
CH471200 Genomic DNA Translation: EAW69660.1
CH471200 Genomic DNA Translation: EAW69661.1
CH471200 Genomic DNA Translation: EAW69662.1
BC012925 mRNA Translation: AAH12925.1
CCDSiCCDS47605.1 [Q9NP71-2]
CCDS47606.1 [Q9NP71-3]
CCDS5553.1 [Q9NP71-1]
CCDS5554.1 [Q9NP71-4]
RefSeqiNP_116569.1, NM_032951.2 [Q9NP71-1]
NP_116570.1, NM_032952.2 [Q9NP71-2]
NP_116571.1, NM_032953.2 [Q9NP71-3]
NP_116572.1, NM_032954.2 [Q9NP71-4]

3D structure databases

SMRiQ9NP71
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119275, 7 interactors
IntActiQ9NP71, 4 interactors
STRINGi9606.ENSP00000320886

PTM databases

iPTMnetiQ9NP71
PhosphoSitePlusiQ9NP71

Polymorphism and mutation databases

BioMutaiMLXIPL
DMDMi20140871

Proteomic databases

jPOSTiQ9NP71
MassIVEiQ9NP71
MaxQBiQ9NP71
PaxDbiQ9NP71
PeptideAtlasiQ9NP71
PRIDEiQ9NP71
ProteomicsDBi81900 [Q9NP71-1]
81901 [Q9NP71-2]
81902 [Q9NP71-3]
81903 [Q9NP71-4]
81904 [Q9NP71-5]
81905 [Q9NP71-6]

Genome annotation databases

EnsembliENST00000313375; ENSP00000320886; ENSG00000009950 [Q9NP71-1]
ENST00000345114; ENSP00000343767; ENSG00000009950 [Q9NP71-5]
ENST00000354613; ENSP00000346629; ENSG00000009950 [Q9NP71-4]
ENST00000414749; ENSP00000412330; ENSG00000009950 [Q9NP71-3]
ENST00000429400; ENSP00000406296; ENSG00000009950 [Q9NP71-2]
GeneIDi51085
KEGGihsa:51085
UCSCiuc003tyk.1 human [Q9NP71-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51085
DisGeNETi51085

GeneCards: human genes, protein and diseases

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GeneCardsi
MLXIPL
HGNCiHGNC:12744 MLXIPL
HPAiHPA064640
MalaCardsiMLXIPL
MIMi605678 gene
neXtProtiNX_Q9NP71
OpenTargetsiENSG00000009950
PharmGKBiPA37353

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3582 Eukaryota
ENOG410XTA5 LUCA
GeneTreeiENSGT00940000159210
InParanoidiQ9NP71
KOiK09113
OMAiCRGRPDN
OrthoDBi388166at2759
PhylomeDBiQ9NP71
TreeFamiTF324749

Enzyme and pathway databases

ReactomeiR-HSA-163358 PKA-mediated phosphorylation of key metabolic factors
R-HSA-163680 AMPK inhibits chREBP transcriptional activation activity
R-HSA-163765 ChREBP activates metabolic gene expression
R-HSA-163767 PP2A-mediated dephosphorylation of key metabolic factors
SIGNORiQ9NP71

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MLXIPL human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MLXIPL

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
51085
PharosiQ9NP71

Protein Ontology

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PROi
PR:Q9NP71

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000009950 Expressed in 159 organ(s), highest expression level in right lobe of liver
ExpressionAtlasiQ9NP71 baseline and differential
GenevisibleiQ9NP71 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMLXPL_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NP71
Secondary accession number(s): C5HU02
, C5HU03, C5HU04, Q96E48, Q9BY03, Q9BY04, Q9BY05, Q9BY06, Q9Y2P3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: October 1, 2000
Last modified: November 13, 2019
This is version 170 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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