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UniProtKB - P61244 (MAX_HUMAN)

Entry version 182 (16 Oct 2019)
Sequence version 1 (10 May 2004)
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Protein

Protein max

Gene

MAX

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

Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MYC or MAD which recognizes the core sequence 5'-CAC[GA]TG-3'. The MYC:MAX complex is a transcriptional activator, whereas the MAD:MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 'Lys-9' histone methyltransferase activity. Represses MYC transcriptional activity from E-box elements.1 Publication

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1362277 Transcription of E2F targets under negative control by DREAM complex
R-HSA-69202 Cyclin E associated events during G1/S transition
R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entry
R-HSA-8953750 Transcriptional Regulation by E2F6

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P61244

SIGNOR Signaling Network Open Resource

More...SIGNORi		P61244

<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:
Protein maxCurated
Alternative name(s):
Class D basic helix-loop-helix protein 4
Short name:
bHLHd4
Myc-associated factor XImported
<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:MAXImported
Synonyms:BHLHD4
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6913 MAX

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		154950 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P61244

<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

Cell projection, 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

Pheochromocytoma (PCC)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.
Related information in OMIM
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_0793479V → L in PCC; does not repress MYC transcriptional activity. 2 PublicationsCorresponds to variant dbSNP:rs201743423EnsemblClinVar.1
Natural variantiVAR_07934823D → N in PCC; unknown pathological significance; does not affect MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07934925R → W in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935033 – 160Missing in PCC; does not repress MYC transcriptional activity. 3 PublicationsAdd BLAST128
Natural variantiVAR_07935135R → C in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935247 – 52Missing in PCC; unknown pathological significance; somatic mutation. 1 Publication6
Natural variantiVAR_07935360R → W in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935471I → S in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935574M → V in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935675 – 160Missing in PCC; unknown pathological significance. 2 PublicationsAdd BLAST86
Natural variantiVAR_07935782 – 160Missing in PCC; unknown pathological significance. 1 PublicationAdd BLAST79
Natural variantiVAR_07935890R → P in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935994L → P in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_079360102L → P in PCC; does not repress MYC transcriptional activity. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi66K → Q: Kept nuclear localization. Loss of nuclear localization; when associated with Q-153 and Q-154. 1 Publication1
Mutagenesisi66K → R: Loss of acetylation, kept nuclear localization; when associated with R-153 and R-154. 1 Publication1
Mutagenesisi153K → Q: Loss of nuclear localization; when associated with Q-66 and Q-154. Kept nuclear localization; when associated with Q-154. 1 Publication1
Mutagenesisi153K → R: Loss of acetylation, kept nuclear localization; when associated with R-66 and R-154. 1 Publication1
Mutagenesisi154K → Q: Loss of nuclear localization; when associated with Q-66 and Q-153. Kept nuclear localization; when associated with Q-153. 1 Publication1
Mutagenesisi154K → R: Loss of acetylation, kept nuclear localization; when associated with R-66 and R-153. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		4149

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		MAX

MalaCards human disease database

More...MalaCardsi		MAX
MIMi171300 phenotype

Open Targets

More...OpenTargetsi		ENSG00000125952

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		29072 Hereditary pheochromocytoma-paraganglioma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30656

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P61244

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1250363

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MAX

Domain mapping of disease mutations (DMDM)

More...DMDMi		47117704

<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_processing_section">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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001272692 – 160Protein maxAdd BLAST159
Isoform 2 (identifier: P61244-2)
Initiator methionineiRemovedCombined sources

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-acetylserineCombined sources1
Modified residuei2PhosphoserineCombined sources1
Modified residuei11PhosphoserineCombined sources1
Modified residuei66N6-acetyllysine1 Publication1
Modified residuei107PhosphoserineCombined sources1
Modified residuei153N6-acetyllysine1 Publication1
Modified residuei154N6-acetyllysine1 Publication1
Isoform 2 (identifier: P61244-2)
Modified residuei2PhosphoserineCombined sources1
Modified residuei2N-acetylserineCombined sources1
Modified residuei11PhosphoserineCombined 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

Reversible lysine acetylation might regulate the nuclear-cytoplasmic shuttling of specific Max complexes.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P61244

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P61244

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P61244

MaxQB - The MaxQuant DataBase

More...MaxQBi		P61244

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

More...PaxDbi		P61244

PeptideAtlas

More...PeptideAtlasi		P61244

PRoteomics IDEntifications database

More...PRIDEi		P61244

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		1183
57281
57282 [P61244-2]
57283 [P61244-3]
57284 [P61244-4]
57285 [P61244-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P61244

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

More...PhosphoSitePlusi		P61244

Miscellaneous databases

CutDB - Proteolytic event database

More...PMAP-CutDBi		P61244

<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

High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000125952 Expressed in 240 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P61244 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P61244 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB000328
HPA003474

<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

Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MYC or MAD. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2.

Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10.

Interacts with SPAG9. The heterodimer MYC:MAX interacts with ABI1; the interaction may enhance MYC:MAX transcriptional activity.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		110319, 177 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-104 Transcriptional repressor Mad-Max complex
CPX-91 Transcriptional activator Myc-Max complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P61244

Database of interacting proteins

More...DIPi		DIP-28145N

Protein interaction database and analysis system

More...IntActi		P61244, 104 interactors

Molecular INTeraction database

More...MINTi		P61244

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000351490

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P61244

<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

Secondary structure

1160
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P61244

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P61244

<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>Domaini23 – 74bHLHPROSITE-ProRule annotationAdd BLAST52

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>Regioni81 – 102Leucine-zipperAdd BLAST22

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi152 – 156Nuclear localization signal5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the MAX family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2483 Eukaryota
ENOG4111V1C LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00530000064011

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000293257

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P61244

KEGG Orthology (KO)

More...KOi		K04453

Identification of Orthologs from Complete Genome Data

More...OMAi		XRALEKA

Database of Orthologous Groups

More...OrthoDBi		507784at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P61244

TreeFam database of animal gene trees

More...TreeFami		TF318841

Family and domain databases

Conserved Domains Database

More...CDDi		cd00083 HLH, 1 hit

Database of protein disorder

More...DisProti		DP00084

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
IPR037933 MAX

The PANTHER Classification System

More...PANTHERi		PTHR10328 PTHR10328, 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_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.

<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 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 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
Note: Additional isoforms seem to exist.

This entry has 6 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P61244-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MSDNDDIEVE SDEEQPRFQS AADKRAHHNA LERKRRDHIK DSFHSLRDSV 
        60         70         80         90        100
PSLQGEKASR AQILDKATEY IQYMRRKNHT HQQDIDDLKR QNALLEQQVR 
       110        120        130        140        150
ALEKARSSAQ LQTNYPSSDN SLYTNAKGST ISAFDGGSDS SSESEPEEPQ 
       160
SRKKLRMEAS
Length:160
Mass (Da):18,275
Last modified:May 10, 2004 - 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:iEB10F3137727A56F
GO
Isoform 2 (identifier: P61244-2) [UniParc] [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     13-21: Missing.

Show »
Length:151
Mass (Da):17,202
Checksum:iCB69F6F5F39793FA
GO
Isoform 3 (identifier: P61244-3) [UniParc] [UniParc]FASTAAdd to basket
Also known as: Delta-Max

The sequence of this isoform differs from the canonical sequence as follows:
     99-160: VRALEKARSSAQLQTNYPSSDNSLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS → GESES

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:103
Mass (Da):12,099
Checksum:i49DC1A0441FFA301
GO
Isoform 4 (identifier: P61244-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-160: VRALEKARSS...SRKKLRMEAS → GEHPSSWGSW...VRASHGVCAQ

Show »
Length:134
Mass (Da):15,395
Checksum:iA2FFD0B98CF93275
GO
Isoform 5 (identifier: P61244-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-160: ASRAQILDKA...SRKKLRMEAS → LYFLFWKLCT...QVHKKKECKI

Note: No experimental confirmation available.
Show »
Length:96
Mass (Da):11,455
Checksum:iD380F721DCF2D6C8
GO
Isoform 6 (identifier: P61244-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-160: ASRAQILDKA...SRKKLRMEAS → GTKMKLTLPPVFPYEHLPFPTVFCHG

Note: No experimental confirmation available.
Show »
Length:83
Mass (Da):9,599
Checksum:iFE0E966237003D47
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V2R5G3V2R5_HUMAN
Protein max
MAX
125Annotation 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>
G3V563G3V563_HUMAN
Protein max
MAX
121Annotation 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>
Q6V3B1Q6V3B1_HUMAN
MAX protein
MAX
94Annotation 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>
G3V5L1G3V5L1_HUMAN
Protein max
MAX
124Annotation 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>
A0A494C130A0A494C130_HUMAN
Protein max
MAX
48Annotation 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>
G3V302G3V302_HUMAN
Protein max
MAX
97Annotation 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>
G3V570G3V570_HUMAN
Protein max
MAX
43Annotation 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>
G3V2N4G3V2N4_HUMAN
Protein max
MAX
82Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0793479V → L in PCC; does not repress MYC transcriptional activity. 2 PublicationsCorresponds to variant dbSNP:rs201743423EnsemblClinVar.1
Natural variantiVAR_07934823D → N in PCC; unknown pathological significance; does not affect MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07934925R → W in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935033 – 160Missing in PCC; does not repress MYC transcriptional activity. 3 PublicationsAdd BLAST128
Natural variantiVAR_07935135R → C in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935247 – 52Missing in PCC; unknown pathological significance; somatic mutation. 1 Publication6
Natural variantiVAR_07935360R → W in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935471I → S in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935574M → V in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935675 – 160Missing in PCC; unknown pathological significance. 2 PublicationsAdd BLAST86
Natural variantiVAR_07935782 – 160Missing in PCC; unknown pathological significance. 1 PublicationAdd BLAST79
Natural variantiVAR_07935890R → P in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_07935994L → P in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_079360102L → P in PCC; does not repress MYC transcriptional activity. 2 Publications1
Natural variantiVAR_079361114N → T Polymorphism; does not affect MYC transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs772912674EnsemblClinVar.1
Natural variantiVAR_079362142S → L Polymorphism; does not affect MYC transcriptional activity. 2 PublicationsCorresponds to variant dbSNP:rs760147253EnsemblClinVar.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_00211713 – 21Missing in isoform 2. 3 Publications9
Alternative sequenceiVSP_04343058 – 160ASRAQ…RMEAS → LYFLFWKLCTPVLHRQSLMQ KCHTFISSYQVHKKKECKI in isoform 5. 1 PublicationAdd BLAST103
Alternative sequenceiVSP_04766158 – 160ASRAQ…RMEAS → GTKMKLTLPPVFPYEHLPFP TVFCHG in isoform 6. CuratedAdd BLAST103
Alternative sequenceiVSP_00211899 – 160VRALE…RMEAS → GESES in isoform 3. 2 PublicationsAdd BLAST62
Alternative sequenceiVSP_04318399 – 160VRALE…RMEAS → GEHPSSWGSWPCCAPARSGF GTWACRVRASHGVCAQ in isoform 4. 1 PublicationAdd BLAST62

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M64240 mRNA Translation: AAA36200.1
M64240 mRNA Translation: AAA36201.1
X66867 Genomic DNA Translation: CAA47337.1
X66867 Genomic DNA Translation: CAA47338.1
X66867 Genomic DNA Translation: CAA47339.1
X60287 mRNA Translation: CAA42827.1
AK290130 mRNA Translation: BAF82819.1
AK290929 mRNA Translation: BAF83618.1
AK292189 mRNA Translation: BAF84878.1
AK292630 mRNA Translation: BAF85319.1
AL139022 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW80899.1
CH471061 Genomic DNA Translation: EAW80901.1
CH471061 Genomic DNA Translation: EAW80903.1
CH471061 Genomic DNA Translation: EAW80904.1
BC003525 mRNA Translation: AAH03525.1
BC004516 mRNA Translation: AAH04516.1
BC013669 mRNA Translation: AAH13669.1
BC027924 mRNA Translation: AAH27924.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41965.1 [P61244-3]
CCDS9770.1 [P61244-6]
CCDS9771.1
CCDS9772.1 [P61244-2]
CCDS9774.1 [P61244-5]

Protein sequence database of the Protein Information Resource

More...PIRi		A38431
A42611
B38431
S33118

NCBI Reference Sequences

More...RefSeqi		NP_001257997.1, NM_001271068.1
NP_002373.3, NM_002382.4 [P61244-1]
NP_660087.1, NM_145112.2 [P61244-2]
NP_660088.1, NM_145113.2 [P61244-3]
NP_660089.1, NM_145114.2 [P61244-5]
NP_932061.1, NM_197957.3 [P61244-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000246163; ENSP00000246163; ENSG00000125952 [P61244-5]
ENST00000284165; ENSP00000284165; ENSG00000125952 [P61244-4]
ENST00000341653; ENSP00000342482; ENSG00000125952 [P61244-6]
ENST00000358402; ENSP00000351175; ENSG00000125952 [P61244-2]
ENST00000358664; ENSP00000351490; ENSG00000125952 [P61244-1]
ENST00000394606; ENSP00000378104; ENSG00000125952 [P61244-3]
ENST00000553928; ENSP00000451907; ENSG00000125952 [P61244-3]
ENST00000556979; ENSP00000452378; ENSG00000125952 [P61244-3]
ENST00000618858; ENSP00000480127; ENSG00000125952 [P61244-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4149

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4149

UCSC genome browser

More...UCSCi		uc001xic.3 human

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
M64240 mRNA Translation: AAA36200.1
M64240 mRNA Translation: AAA36201.1
X66867 Genomic DNA Translation: CAA47337.1
X66867 Genomic DNA Translation: CAA47338.1
X66867 Genomic DNA Translation: CAA47339.1
X60287 mRNA Translation: CAA42827.1
AK290130 mRNA Translation: BAF82819.1
AK290929 mRNA Translation: BAF83618.1
AK292189 mRNA Translation: BAF84878.1
AK292630 mRNA Translation: BAF85319.1
AL139022 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW80899.1
CH471061 Genomic DNA Translation: EAW80901.1
CH471061 Genomic DNA Translation: EAW80903.1
CH471061 Genomic DNA Translation: EAW80904.1
BC003525 mRNA Translation: AAH03525.1
BC004516 mRNA Translation: AAH04516.1
BC013669 mRNA Translation: AAH13669.1
BC027924 mRNA Translation: AAH27924.1
CCDSiCCDS41965.1 [P61244-3]
CCDS9770.1 [P61244-6]
CCDS9771.1
CCDS9772.1 [P61244-2]
CCDS9774.1 [P61244-5]
PIRiA38431
A42611
B38431
S33118
RefSeqiNP_001257997.1, NM_001271068.1
NP_002373.3, NM_002382.4 [P61244-1]
NP_660087.1, NM_145112.2 [P61244-2]
NP_660088.1, NM_145113.2 [P61244-3]
NP_660089.1, NM_145114.2 [P61244-5]
NP_932061.1, NM_197957.3 [P61244-6]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1AN2X-ray2.90A22-107[»]
1HLOX-ray2.80A/B4-92[»]
1NKPX-ray1.80B/E23-102[»]
1NLWX-ray2.00B/E24-99[»]
1R05NMR-A/B22-103[»]
5EYOX-ray2.39A/C22-107[»]
6G6JX-ray2.25B/D22-103[»]
6G6KX-ray1.35B/D22-103[»]
6G6LX-ray2.20B/D/F/H22-103[»]
SMRiP61244
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi110319, 177 interactors
ComplexPortaliCPX-104 Transcriptional repressor Mad-Max complex
CPX-91 Transcriptional activator Myc-Max complex
CORUMiP61244
DIPiDIP-28145N
IntActiP61244, 104 interactors
MINTiP61244
STRINGi9606.ENSP00000351490

Chemistry databases

BindingDBiP61244
ChEMBLiCHEMBL1250363

PTM databases

iPTMnetiP61244
PhosphoSitePlusiP61244

Polymorphism and mutation databases

BioMutaiMAX
DMDMi47117704

Proteomic databases

EPDiP61244
jPOSTiP61244
MassIVEiP61244
MaxQBiP61244
PaxDbiP61244
PeptideAtlasiP61244
PRIDEiP61244
ProteomicsDBi1183
57281
57282 [P61244-2]
57283 [P61244-3]
57284 [P61244-4]
57285 [P61244-5]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		4149

Genome annotation databases

EnsembliENST00000246163; ENSP00000246163; ENSG00000125952 [P61244-5]
ENST00000284165; ENSP00000284165; ENSG00000125952 [P61244-4]
ENST00000341653; ENSP00000342482; ENSG00000125952 [P61244-6]
ENST00000358402; ENSP00000351175; ENSG00000125952 [P61244-2]
ENST00000358664; ENSP00000351490; ENSG00000125952 [P61244-1]
ENST00000394606; ENSP00000378104; ENSG00000125952 [P61244-3]
ENST00000553928; ENSP00000451907; ENSG00000125952 [P61244-3]
ENST00000556979; ENSP00000452378; ENSG00000125952 [P61244-3]
ENST00000618858; ENSP00000480127; ENSG00000125952 [P61244-3]
GeneIDi4149
KEGGihsa:4149
UCSCiuc001xic.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4149
DisGeNETi4149

GeneCards: human genes, protein and diseases

More...GeneCardsi		MAX
GeneReviewsiMAX
HGNCiHGNC:6913 MAX
HPAiCAB000328
HPA003474
MalaCardsiMAX
MIMi154950 gene
171300 phenotype
neXtProtiNX_P61244
OpenTargetsiENSG00000125952
Orphaneti29072 Hereditary pheochromocytoma-paraganglioma
PharmGKBiPA30656

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2483 Eukaryota
ENOG4111V1C LUCA
GeneTreeiENSGT00530000064011
HOGENOMiHOG000293257
InParanoidiP61244
KOiK04453
OMAiXRALEKA
OrthoDBi507784at2759
PhylomeDBiP61244
TreeFamiTF318841

Enzyme and pathway databases

ReactomeiR-HSA-1362277 Transcription of E2F targets under negative control by DREAM complex
R-HSA-69202 Cyclin E associated events during G1/S transition
R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entry
R-HSA-8953750 Transcriptional Regulation by E2F6
SignaLinkiP61244
SIGNORiP61244

Miscellaneous databases

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

More...ChiTaRSi		MAX human
EvolutionaryTraceiP61244

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MAX_(gene)

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

More...GenomeRNAii		4149
PharosiP61244
PMAP-CutDBiP61244

Protein Ontology

More...PROi		PR:P61244

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000125952 Expressed in 240 organ(s), highest expression level in blood
ExpressionAtlasiP61244 baseline and differential
GenevisibleiP61244 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
DisProtiDP00084
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR037933 MAX
PANTHERiPTHR10328 PTHR10328, 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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiMAX_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: P61244
Secondary accession number(s): A6NH73
, A8K265, A8K4G4, A8K824, P25912, P52163, Q14803, Q96CY8
<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: May 10, 2004
Last sequence update: May 10, 2004
Last modified: October 16, 2019
This is version 182 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  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
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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