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Entry version 141 (22 Apr 2020)
Sequence version 2 (21 Aug 2007)
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Protein

MLX-interacting protein

Gene

MLXIP

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

Binds DNA as a heterodimer with MLX and activates transcription. Binds to the canonical E box sequence 5'-CACGTG-3'. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation.By similarity2 Publications

<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 functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

<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%5Fand%5Ftaxonomy%5Fsection">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:
MLX-interacting protein
Alternative name(s):
Class E basic helix-loop-helix protein 36
Short name:
bHLHe36
Transcriptional activator MondoA
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:MLXIPImported
Synonyms:BHLHE36, KIAA0867, MIRImported, MONDOA
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17055 MLXIP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608090 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HAP2

<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

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane, 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

Organism-specific databases

DisGeNET

More...
DisGeNETi
22877

Open Targets

More...
OpenTargetsi
ENSG00000175727

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128394590

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HAP2 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MLXIP

Domain mapping of disease mutations (DMDM)

More...
DMDMi
156632588

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002987632 – 919MLX-interacting proteinAdd BLAST918

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 residuei2N-acetylalanineCombined sources1
Modified residuei9PhosphoserineCombined sources1
Modified residuei27PhosphoserineCombined sources1
Modified residuei33PhosphoserineCombined sources1
Modified residuei39PhosphoserineBy similarity1
Modified residuei669PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9HAP2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9HAP2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9HAP2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9HAP2

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

More...
PaxDbi
Q9HAP2

PeptideAtlas

More...
PeptideAtlasi
Q9HAP2

PRoteomics IDEntifications database

More...
PRIDEi
Q9HAP2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81411 [Q9HAP2-1]
81412 [Q9HAP2-2]
81413 [Q9HAP2-3]
81414 [Q9HAP2-4]
81415 [Q9HAP2-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HAP2

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

More...
PhosphoSitePlusi
Q9HAP2

<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

Widely expressed in adult tissues. Most abundant in skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000175727 Expressed in caecum and 221 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9HAP2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9HAP2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000175727 Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a homodimer or a heterodimer with MLX.

By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116544, 6 interactors

Protein interaction database and analysis system

More...
IntActi
Q9HAP2, 10 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000312834

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9HAP2 protein

<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
Q9HAP2

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%5Fand%5Fdomains%5Fsection">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>Domaini719 – 769bHLHPROSITE-ProRule annotationAdd BLAST51

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>Regioni73 – 327Required for cytoplasmic localization1 PublicationAdd BLAST255
Regioni322 – 445Transactivation domain1 PublicationAdd BLAST124
Regioni769 – 790Leucine-zipperAdd BLAST22
Regioni832 – 881Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization1 PublicationAdd BLAST50

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3582 Eukaryota
ENOG410XTA5 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158691

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_007471_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9HAP2

KEGG Orthology (KO)

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KOi
K09113

Identification of Orthologs from Complete Genome Data

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OMAi
TILSCQQ

Database of Orthologous Groups

More...
OrthoDBi
388166at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HAP2

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
IPR032648 MLXIP

The PANTHER Classification System

More...
PANTHERi
PTHR15741:SF23 PTHR15741:SF23, 1 hit

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%5Flength">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 (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q9HAP2-1) [UniParc]FASTAAdd to basket

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
MAADVFMCSP RRPRSRGRQV LLKPQVSEDD DDSDTDEPSP PPASGAATPA
60 70 80 90 100
RAHASAAPPP PRAGPGREEP PRRQQIIHSG HFMVSSPHRE HPPKKGYDFD
110 120 130 140 150
TVNKQTCQTY SFGKTSSCHL SIDASLTKLF ECMTLAYSGK LVSPKWKNFK
160 170 180 190 200
GLKLQWRDKI RLNNAIWRAW YMQYLEKRKN PVCHFVTPLD GSVDVDEHRR
210 220 230 240 250
PEAITTEGKY WKSRIEIVIR EYHKWRTYFK KRLQQHKDED LSSLVQDDDM
260 270 280 290 300
LYWHKHGDGW KTPVPMEEDP LLDTDMLMSE FSDTLFSTLS SHQPVAWPNP
310 320 330 340 350
REIAHLGNAD MIQPGLIPLQ PNLDFMDTFE PFQDLFSSSR SIFGSMLPAS
360 370 380 390 400
ASAPVPDPNN PPAQESILPT TALPTVSLPD SLIAPPTAPS LAHMDEQGCE
410 420 430 440 450
HTSRTEDPFI QPTDFGPSEP PLSVPQPFLP VFTMPLLSPS PAPPPISPVL
460 470 480 490 500
PLVPPPATAL NPPAPPTFHQ PQKFAGVNKA PSVITHTASA TLTHDAPATT
510 520 530 540 550
FSQSQGLVIT THHPAPSAAP CGLALSPVTR PPQPRLTFVH PKPVSLTGGR
560 570 580 590 600
PKQPHKIVPA PKPEPVSLVL KNARIAPAAF SGQPQAVIMT SGPLKREGML
610 620 630 640 650
ASTVSQSNVV IAPAAIARAP GVPEFHSSIL VTDLGHGTSS PPAPVSRLFP
660 670 680 690 700
STAQDPLGKG EQVPLHGGSP QVTVTGPSRD CPNSGQASPC ASEQSPSPQS
710 720 730 740 750
PQNNCSGKSD PKNVAALKNR QMKHISAEQK RRFNIKMCFD MLNSLISNNS
760 770 780 790 800
KLTSHAITLQ KTVEYITKLQ QERGQMQEEA RRLREEIEEL NATIISCQQL
810 820 830 840 850
LPATGVPVTR RQFDHMKDMF DEYVKTRTLQ NWKFWIFSII IKPLFESFKG
860 870 880 890 900
MVSTSSLEEL HRTALSWLDQ HCSLPILRPM VLSTLRQLST STSILTDPAQ
910
LPEQASKAVT RIGKRLGES
Length:919
Mass (Da):101,185
Last modified:August 21, 2007 - v2
<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:i47375FCC4333E0C2
GO
Isoform 21 Publication (identifier: Q9HAP2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-393: Missing.

Show »
Length:526
Mass (Da):56,822
Checksum:i0C3ADBD852823E60
GO
Isoform 31 Publication (identifier: Q9HAP2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     578-628: AAFSGQPQAV...APGVPEFHSS → GEPGGETQCG...HIHLNETKVS
     629-919: Missing.

Show »
Length:628
Mass (Da):69,091
Checksum:i30A3DE477411D863
GO
Isoform 41 Publication (identifier: Q9HAP2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-393: Missing.
     770-772: QQE → LLS
     773-919: Missing.

Show »
Length:379
Mass (Da):39,808
Checksum:i6EC02D23459161A5
GO
Isoform 51 Publication (identifier: Q9HAP2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-393: Missing.
     426-443: Missing.
     578-628: AAFSGQPQAV...APGVPEFHSS → GEPGGETQCG...HIHLNETKVS
     629-919: Missing.

Show »
Length:217
Mass (Da):22,806
Checksum:iCD8533894CB00AB3
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
F5H0V4F5H0V4_HUMAN
MLX-interacting protein
MLXIP
308Annotation 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>
H0YGR9H0YGR9_HUMAN
MLX-interacting protein
MLXIP
171Annotation 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>
F5H321F5H321_HUMAN
MLX-interacting protein
MLXIP
73Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA74890 differs from that shown. Reason: Erroneous initiation.Curated

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_059344396E → G2 PublicationsCorresponds to variant dbSNP:rs7978353Ensembl.1
Natural variantiVAR_059345539V → L. Corresponds to variant dbSNP:rs34702867Ensembl.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_0524991 – 393Missing in isoform 2, isoform 4 and isoform 5. 3 PublicationsAdd BLAST393
Alternative sequenceiVSP_052500426 – 443Missing in isoform 5. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_052501578 – 628AAFSG…EFHSS → GEPGGETQCGAPPDPEGCFP IPKAFKLVTTTTTLVCTCMR THIHLNETKVS in isoform 3 and isoform 5. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_052502629 – 919Missing in isoform 3 and isoform 5. 1 PublicationAdd BLAST291
Alternative sequenceiVSP_052503770 – 772QQE → LLS in isoform 4. 1 Publication3
Alternative sequenceiVSP_052504773 – 919Missing in isoform 4. 1 PublicationAdd BLAST147

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF312918 mRNA Translation: AAG34121.1
AF245480 mRNA Translation: AAL55689.1
AF245481 mRNA Translation: AAL55690.1
AB020674 mRNA Translation: BAA74890.2 Different initiation.
BC017656 mRNA Translation: AAH17656.1
BC028309 mRNA Translation: AAH28309.1
BC039704 mRNA Translation: AAH39704.1
BC151841 mRNA Translation: AAI51842.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS73540.1 [Q9HAP2-1]

NCBI Reference Sequences

More...
RefSeqi
NP_055753.3, NM_014938.5 [Q9HAP2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000319080; ENSP00000312834; ENSG00000175727 [Q9HAP2-1]
ENST00000377037; ENSP00000366236; ENSG00000175727 [Q9HAP2-5]
ENST00000538698; ENSP00000440769; ENSG00000175727 [Q9HAP2-2]
ENST00000625732; ENSP00000486569; ENSG00000281178 [Q9HAP2-1]
ENST00000629738; ENSP00000487003; ENSG00000281178 [Q9HAP2-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
22877

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:22877

UCSC genome browser

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UCSCi
uc001ubq.4 human [Q9HAP2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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
AF312918 mRNA Translation: AAG34121.1
AF245480 mRNA Translation: AAL55689.1
AF245481 mRNA Translation: AAL55690.1
AB020674 mRNA Translation: BAA74890.2 Different initiation.
BC017656 mRNA Translation: AAH17656.1
BC028309 mRNA Translation: AAH28309.1
BC039704 mRNA Translation: AAH39704.1
BC151841 mRNA Translation: AAI51842.1
CCDSiCCDS73540.1 [Q9HAP2-1]
RefSeqiNP_055753.3, NM_014938.5 [Q9HAP2-1]

3D structure databases

SMRiQ9HAP2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116544, 6 interactors
IntActiQ9HAP2, 10 interactors
STRINGi9606.ENSP00000312834

PTM databases

iPTMnetiQ9HAP2
PhosphoSitePlusiQ9HAP2

Polymorphism and mutation databases

BioMutaiMLXIP
DMDMi156632588

Proteomic databases

EPDiQ9HAP2
jPOSTiQ9HAP2
MassIVEiQ9HAP2
MaxQBiQ9HAP2
PaxDbiQ9HAP2
PeptideAtlasiQ9HAP2
PRIDEiQ9HAP2
ProteomicsDBi81411 [Q9HAP2-1]
81412 [Q9HAP2-2]
81413 [Q9HAP2-3]
81414 [Q9HAP2-4]
81415 [Q9HAP2-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
9815 141 antibodies

The DNASU plasmid repository

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DNASUi
22877

Genome annotation databases

EnsembliENST00000319080; ENSP00000312834; ENSG00000175727 [Q9HAP2-1]
ENST00000377037; ENSP00000366236; ENSG00000175727 [Q9HAP2-5]
ENST00000538698; ENSP00000440769; ENSG00000175727 [Q9HAP2-2]
ENST00000625732; ENSP00000486569; ENSG00000281178 [Q9HAP2-1]
ENST00000629738; ENSP00000487003; ENSG00000281178 [Q9HAP2-1]
GeneIDi22877
KEGGihsa:22877
UCSCiuc001ubq.4 human [Q9HAP2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
22877
DisGeNETi22877

GeneCards: human genes, protein and diseases

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GeneCardsi
MLXIP
HGNCiHGNC:17055 MLXIP
HPAiENSG00000175727 Low tissue specificity
MIMi608090 gene
neXtProtiNX_Q9HAP2
OpenTargetsiENSG00000175727
PharmGKBiPA128394590

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3582 Eukaryota
ENOG410XTA5 LUCA
GeneTreeiENSGT00940000158691
HOGENOMiCLU_007471_1_0_1
InParanoidiQ9HAP2
KOiK09113
OMAiTILSCQQ
OrthoDBi388166at2759
PhylomeDBiQ9HAP2
TreeFamiTF324749

Miscellaneous databases

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

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ChiTaRSi
MLXIP human

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

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GenomeRNAii
22877
PharosiQ9HAP2 Tbio

Protein Ontology

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PROi
PR:Q9HAP2
RNActiQ9HAP2 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000175727 Expressed in caecum and 221 other tissues
ExpressionAtlasiQ9HAP2 baseline and differential
GenevisibleiQ9HAP2 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
IPR032648 MLXIP
PANTHERiPTHR15741:SF23 PTHR15741:SF23, 1 hit
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
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiMLXIP_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: Q9HAP2
Secondary accession number(s): A7MBN0
, O94945, Q7LC47, Q8IXP1, Q8TAH9, Q8WVQ0, Q8WYA5
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 21, 2007
Last modified: April 22, 2020
This is version 141 of the entry and version 2 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

Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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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