Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 196 (13 Feb 2019)
Sequence version 1 (01 Nov 1997)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Twist-related protein 1

Gene

TWIST1

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

Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-ARNTL/BMAL1 heterodimer (By similarity).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, Developmental protein, DNA-binding, Repressor
Biological processBiological rhythms, Differentiation, Myogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-8939902 Regulation of RUNX2 expression and activity

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

More...
SignaLinki
Q15672

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q15672

<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:
Twist-related protein 1
Alternative name(s):
Class A basic helix-loop-helix protein 38
Short name:
bHLHa38
H-twist
<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:TWIST1
Synonyms:BHLHA38, TWIST
<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

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000122691.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:12428 TWIST1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601622 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15672

<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

Saethre-Chotzen syndrome (SCS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
See also OMIM:101400
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_004495119Q → P in SCS. 1 PublicationCorresponds to variant dbSNP:rs104894057EnsemblClinVar.1
Natural variantiVAR_004496131L → P in SCS. 1 PublicationCorresponds to variant dbSNP:rs121909189EnsemblClinVar.1
Natural variantiVAR_004497135I → IAALRKII in SCS. 1
Natural variantiVAR_004498139P → PKIIPTLP in SCS. 1
Natural variantiVAR_015219156I → V in SCS; variant form with features overlapping Baller-Gerold syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894059EnsemblClinVar.1
Robinow-Sorauf syndrome (RSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux.
See also OMIM:180750
Craniosynostosis 1 (CRS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
See also OMIM:123100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034985186A → T in CRS1. 1 PublicationCorresponds to variant dbSNP:rs121909190EnsemblClinVar.1
Natural variantiVAR_034986188S → L in CRS1. 1 PublicationCorresponds to variant dbSNP:rs121909191EnsemblClinVar.1
Sweeney-Cox syndrome (SWCOS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears.
See also OMIM:617746
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080515117E → G in SWCOS. 1 Publication1
Natural variantiVAR_080516117E → V in SWCOS. 1 Publication1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
7291

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

More...
GeneReviewsi
TWIST1

MalaCards human disease database

More...
MalaCardsi
TWIST1
MIMi101400 phenotype
123100 phenotype
180750 phenotype
617746 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000122691

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

More...
Orphaneti
35099 Isolated brachycephaly
35098 Isolated plagiocephaly
35093 Isolated scaphocephaly
794 Saethre-Chotzen syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37088

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TWIST1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2498009

<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_00001274831 – 202Twist-related protein 1Add BLAST202

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q15672

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

More...
PaxDbi
Q15672

PeptideAtlas

More...
PeptideAtlasi
Q15672

PRoteomics IDEntifications database

More...
PRIDEi
Q15672

ProteomicsDB human proteome resource

More...
ProteomicsDBi
60700

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q15672

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

More...
PhosphoSitePlusi
Q15672

<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

Subset of mesodermal cells.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000122691 Expressed in 200 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q15672 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q15672 HS

<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. Homodimer or heterodimer with E proteins such as TCF3. ID1 binds preferentially to TCF3 but does not interact efficiently with TWIST1 so ID1 levels control the amount of TCF3 available to dimerize with TWIST1 and thus determine the type of dimer formed (By similarity).By similarity

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
113142, 44 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q15672

Database of interacting proteins

More...
DIPi
DIP-45974N

Protein interaction database and analysis system

More...
IntActi
Q15672, 26 interactors

Molecular INTeraction database

More...
MINTi
Q15672

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000242261

<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

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
2MJVNMR-A68-79[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q15672

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

More...
SMRi
Q15672

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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>Domaini108 – 159bHLHPROSITE-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>Regioni161 – 191Sufficient for transactivation activityBy similarityAdd BLAST31

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 biasi80 – 98Gly-richAdd BLAST19

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4447 Eukaryota
ENOG4111QFU LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162831

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000261629

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q15672

KEGG Orthology (KO)

More...
KOi
K09069

Identification of Orthologs from Complete Genome Data

More...
OMAi
RPSRKNG

Database of Orthologous Groups

More...
OrthoDBi
1595261at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q15672

TreeFam database of animal gene trees

More...
TreeFami
TF315153

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
IPR015789 Twist-related

The PANTHER Classification System

More...
PANTHERi
PTHR23349:SF64 PTHR23349:SF64, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q15672-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMQDVSSSPV SPADDSLSNS EEEPDRQQPP SGKRGGRKRR SSRRSAGGGA
60 70 80 90 100
GPGGAAGGGV GGGDEPGSPA QGKRGKKSAG CGGGGGAGGG GGSSSGGGSP
110 120 130 140 150
QSYEELQTQR VMANVRERQR TQSLNEAFAA LRKIIPTLPS DKLSKIQTLK
160 170 180 190 200
LAARYIDFLY QVLQSDELDS KMASCSYVAH ERLSYAFSVW RMEGAWSMSA

SH
Length:202
Mass (Da):20,954
Last modified:November 1, 1997 - 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:i9394E4351BA1D081
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BY00H7BY00_HUMAN
Twist-related protein 1
TWIST1
135Annotation 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>
H7C4D7H7C4D7_HUMAN
Twist-related protein 1
TWIST1
70Annotation 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 conflicti32G → A in CAA67664 (PubMed:8995765).Curated1
Sequence conflicti36G → A in CAA67664 (PubMed:8995765).Curated1
Sequence conflicti41S → T in CAA62850 (PubMed:9073070).Curated1
Sequence conflicti41S → T in CAA71821 (PubMed:9215678).Curated1
Sequence conflicti45S → T in CAA62850 (PubMed:9073070).Curated1
Sequence conflicti45S → T in CAA71821 (PubMed:9215678).Curated1
Sequence conflicti56Missing in CAA62850 (PubMed:9073070).Curated1
Sequence conflicti56Missing in CAA71821 (PubMed:9215678).Curated1
Sequence conflicti59G → A in CAA67664 (PubMed:8995765).Curated1
Sequence conflicti92G → GGGGG in CAA67664 (PubMed:8995765).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07747083G → S Found in a patient with non-syndromic ventricular septal defect; unknown pathological significance; loss of function in negative regulation of transcription from E-cadherin promoter. 1 PublicationCorresponds to variant dbSNP:rs545987863Ensembl.1
Natural variantiVAR_07747195S → G Rare polymorphism; no effect on negative regulation of transcription from E-cadherin promoter. 1 PublicationCorresponds to variant dbSNP:rs575299986Ensembl.1
Natural variantiVAR_080515117E → G in SWCOS. 1 Publication1
Natural variantiVAR_080516117E → V in SWCOS. 1 Publication1
Natural variantiVAR_004495119Q → P in SCS. 1 PublicationCorresponds to variant dbSNP:rs104894057EnsemblClinVar.1
Natural variantiVAR_004496131L → P in SCS. 1 PublicationCorresponds to variant dbSNP:rs121909189EnsemblClinVar.1
Natural variantiVAR_004497135I → IAALRKII in SCS. 1
Natural variantiVAR_004498139P → PKIIPTLP in SCS. 1
Natural variantiVAR_015219156I → V in SCS; variant form with features overlapping Baller-Gerold syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894059EnsemblClinVar.1
Natural variantiVAR_034985186A → T in CRS1. 1 PublicationCorresponds to variant dbSNP:rs121909190EnsemblClinVar.1
Natural variantiVAR_034986188S → L in CRS1. 1 PublicationCorresponds to variant dbSNP:rs121909191EnsemblClinVar.1

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
X91662 Genomic DNA Translation: CAA62850.1
X99268 mRNA Translation: CAA67664.1
U80998 Genomic DNA Translation: AAC50930.1
Y10871 Genomic DNA Translation: CAA71821.1
AC003986 Genomic DNA Translation: AAC60381.2
CH236948 Genomic DNA Translation: EAL24279.1
BC036704 mRNA Translation: AAH36704.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5367.1

Protein sequence database of the Protein Information Resource

More...
PIRi
G01204

NCBI Reference Sequences

More...
RefSeqi
NP_000465.1, NM_000474.3
XP_011513798.1, XM_011515496.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.644998
Hs.66744

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000242261; ENSP00000242261; ENSG00000122691

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
7291

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:7291

UCSC genome browser

More...
UCSCi
uc003sum.3 human

Keywords - Coding sequence diversityi

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X91662 Genomic DNA Translation: CAA62850.1
X99268 mRNA Translation: CAA67664.1
U80998 Genomic DNA Translation: AAC50930.1
Y10871 Genomic DNA Translation: CAA71821.1
AC003986 Genomic DNA Translation: AAC60381.2
CH236948 Genomic DNA Translation: EAL24279.1
BC036704 mRNA Translation: AAH36704.1
CCDSiCCDS5367.1
PIRiG01204
RefSeqiNP_000465.1, NM_000474.3
XP_011513798.1, XM_011515496.1
UniGeneiHs.644998
Hs.66744

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MJVNMR-A68-79[»]
ProteinModelPortaliQ15672
SMRiQ15672
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113142, 44 interactors
CORUMiQ15672
DIPiDIP-45974N
IntActiQ15672, 26 interactors
MINTiQ15672
STRINGi9606.ENSP00000242261

PTM databases

iPTMnetiQ15672
PhosphoSitePlusiQ15672

Polymorphism and mutation databases

BioMutaiTWIST1
DMDMi2498009

Proteomic databases

jPOSTiQ15672
PaxDbiQ15672
PeptideAtlasiQ15672
PRIDEiQ15672
ProteomicsDBi60700

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
7291
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000242261; ENSP00000242261; ENSG00000122691
GeneIDi7291
KEGGihsa:7291
UCSCiuc003sum.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7291
DisGeNETi7291
EuPathDBiHostDB:ENSG00000122691.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TWIST1
GeneReviewsiTWIST1
HGNCiHGNC:12428 TWIST1
MalaCardsiTWIST1
MIMi101400 phenotype
123100 phenotype
180750 phenotype
601622 gene
617746 phenotype
neXtProtiNX_Q15672
OpenTargetsiENSG00000122691
Orphaneti35099 Isolated brachycephaly
35098 Isolated plagiocephaly
35093 Isolated scaphocephaly
794 Saethre-Chotzen syndrome
PharmGKBiPA37088

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4447 Eukaryota
ENOG4111QFU LUCA
GeneTreeiENSGT00940000162831
HOGENOMiHOG000261629
InParanoidiQ15672
KOiK09069
OMAiRPSRKNG
OrthoDBi1595261at2759
PhylomeDBiQ15672
TreeFamiTF315153

Enzyme and pathway databases

ReactomeiR-HSA-6785807 Interleukin-4 and Interleukin-13 signaling
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-8939902 Regulation of RUNX2 expression and activity
SignaLinkiQ15672
SIGNORiQ15672

Miscellaneous databases

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

More...
ChiTaRSi
TWIST1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Twist_transcription_factor

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

More...
GenomeRNAii
7291

Protein Ontology

More...
PROi
PR:Q15672

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000122691 Expressed in 200 organ(s), highest expression level in testis
ExpressionAtlasiQ15672 baseline and differential
GenevisibleiQ15672 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
IPR015789 Twist-related
PANTHERiPTHR23349:SF64 PTHR23349:SF64, 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...

<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 nameiTWST1_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: Q15672
Secondary accession number(s): A4D128, Q92487, Q99804
<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: November 1, 1997
Last sequence update: November 1, 1997
Last modified: February 13, 2019
This is version 196 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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again