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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TWIST1 Gene

protein-coding GIFtS: 62
GCID: GC07M019121

twist basic helix-loop-helix transcription factor 1

(Previous names: blepharophimosis, epicanthus inversus and ptosis 3, acrocephalosyndactyly...)
(Previous symbols: ACS3, BPES3, TWIST)

Explore 81 diseases affiliated with
TWIST1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Twist Basic Helix-Loop-Helix Transcription Factor 1¹ ²		CRS1² ⁵
H-Twist¹		Acrocephalosyndactyly 3¹
TWIST¹ ² ³		Blepharophimosis, Epicanthus Inversus And Ptosis 3¹
BHLHa38¹		Twist Homolog 1 (Drosophila)¹
ACS3¹ ² ⁵		B-HLH DNA Binding Protein²
SCS¹ ² ⁵		Twist Homolog 1²
BPES2¹ ²		TWIST Homolog Of Drosophila²
BPES3¹ ²		Twist-Related Protein 1²
Class A Basic Helix-Loop-Helix Protein 38² ³		BHLHA38³

External Ids:	HGNC: 12428¹	Entrez Gene: 7291²	Ensembl: ENSG00000122691⁷	OMIM: 601622⁵	UniProtKB: Q15672³

Export aliases for TWIST1 gene to outside databases

Previous GC identifers: GC07M018800 GC07M018900 GC07M018901 GC07M018930

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TWIST1:

Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and

differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another

bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults,

mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with

Saethre-Chotzen syndrome. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TWST1_HUMAN, Q15672

Function: 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

Gene Wiki entry for TWIST1 (Twist transcription factor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007819.17 NT_079592.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TWIST1 gene promoter:
AREB6 Pax-3 p53 AP-1 ATF-2 MyoD STAT3 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TWIST1 promoter sequence

Search SABiosciences Chromatin IP Primers for TWIST1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TWIST1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p21.2 Ensembl cytogenetic band: 7p21.1 HGNC cytogenetic band: 7p21

TWIST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TWIST1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M019121: view genomic region (about GC identifiers)

Start:	19,060,614 bp from pter	End:	19,157,295 bp from pter
Size:	96,682 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 19,206,542-19,208,746

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TWST1_HUMAN, Q15672 (See protein sequence)

Recommended Name: Twist-related protein 1

Size: 202 amino acids; 20954 Da

Subunit: 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)

Subcellular location: Nucleus

Secondary accessions: A4D128 Q92487 Q99804

Explore the universe of human proteins at neXtProt for TWIST1: NX_Q15672

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q15672

TWIST1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000465.1

ENSEMBL proteins:

ENSP00000416986 ENSP00000346582 ENSP00000242261

Human Recombinant Protein Products for TWIST1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: TWIST1 OriGene Protein Over-expression Lysate: TWIST1 OriGene Custom Protein Services for TWIST1
	GenScript Custom Purified and Recombinant Proteins Services for TWIST1
	Novus Biologicals TWIST1 Proteins Novus Biologicals TWIST1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TWIST1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	10749989

TWIST1 for ontologies About GeneDecksing

TWIST1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TWIST1
	R&D Systems Antibodies for TWIST1 (Twist-1)
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	GenScript Custom Superior Antibodies Services for TWIST1
	Novus Biologicals TWIST1 Antibodies
	Abcam antibodies for TWIST1
	Uscn Antibodies for TWIST1
	Search ThermoFisher Antibodies for TWIST1

Assay Products for TWIST1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TWIST1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TWIST1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TWIST1 for domains About GeneDecksing

2 InterPro domains/families:

IPR015789 Twist

IPR011598 HLH_dom

Graphical View of Domain Structure for InterPro Entry Q15672

ProtoNet protein and cluster: Q15672

1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH

UniProtKB/Swiss-Prot: TWST1_HUMAN, Q15672

Similarity: Contains 1 bHLH (basic helix-loop-helix) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: TWST1_HUMAN, Q15672

Function: 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

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity	IDA	17332325
GO:0003700	sequence-specific DNA binding transcription factor activity	--	--
GO:0005515	protein binding	IPI	--
GO:0008134	transcription factor binding	IPI	15545268
GO:0019904	protein domain specific binding	IEA	--

TWIST1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for TWIST1:

Synthetic lethal with Ras

12 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Twist1):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	growth/size	limbs/digits/tail	mortality/aging	muscle
nervous system	skeleton

TWIST1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for TWIST1: Twist1^tm2.1Bhr Twist1^tm1Bhr

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TWIST1

miRNA Products:		OriGene 3'-UTR Clone: TWIST1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TWIST1
		8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate TWIST1 (see all 32):
		hsa-miR-3678-3p hsa-miR-300 hsa-miR-25 hsa-miR-4315 hsa-miR-138-2* hsa-miR-3916 hsa-miR-4267 hsa-miR-298

		SwitchGear 3'UTR luciferase reporter plasmid: TWIST1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TWIST1 (see all 7) OriGene shRNA RFP: TWIST1 OriGene siRNA: TWIST1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TWIST1
		Sirion Biotech Custom design and validation of potent shRNA sequences against TWIST1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for TWIST1
			Sirion Biotech Customized adenovirus for overexpression of TWIST1 Sirion Biotech Customized adenovirus for potent knockdown of TWIST1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TWIST1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TWIST1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TWIST1 (NM_000474)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TWIST1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TWIST1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TWIST1
		LifeMap BioReagents: cell lines associated with TWIST1: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor, PureStem MEL2, NCr-fac Progenitor, PureStem SK11, NCr-fac & Meso-prx Progenitor
		Sirion Biotech Customized stable knockdown cell line services for TWIST1 Sirion Biotech Customized inducible knockdown cell line services for TWIST1 Sirion Biotech Customized stable overexpressing cell line services for TWIST1 Sirion Biotech Customized inducible overexpressing cell line services for TWIST1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TWIST1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Neural Crest Differentiation

Neural Crest Differentiation

1.00

Adipogenesis

Adipogenesis

1.00

Notch-mediated HES/HEY network

Notch-mediated HES/HEY network

1.00

HIF-2-alpha transcription factor network

HIF-2-alpha transcription factor network

1.00

4 BioSystems Pathways for TWIST1

	Adipogenesis
	Neural Crest Differentiation
	HIF-2-alpha transcription factor network
	Notch-mediated HES/HEY network

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TWIST1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/46 Interacting proteins for TWIST1 (Q15672^{1, 2, 3} ENSP00000242261⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ETS2	P15036¹^,³, ENSP00000353344⁴	EBI-1797287,EBI-1646991 I2D: score=1 STRING: ENSP00000353344
SETD8	Q9NQR1², ENSP00000332995⁴	MINT-8313326 MINT-8313292 MINT-8309424 MINT-8313257 MINT-8313339 MINT-8313305 STRING: ENSP00000332995
KAT2B	Q92831¹^,³, ENSP00000263754⁴	EBI-1797287,EBI-477430 I2D: score=2 STRING: ENSP00000263754
RELA	Q04206²^,³, ENSP00000384273⁴	MINT-8313257 I2D: score=2 STRING: ENSP00000384273
HDAC1	Q13547², ENSP00000362649⁴	MINT-8313182 MINT-8309424 STRING: ENSP00000362649

About this table

Gene Ontology (GO): 5/55 biological process terms (GO ID links to tree view) (see all 55): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	17690110
GO:0001503	ossification	TAS	11001584
GO:0001649	osteoblast differentiation	IEA	--
GO:0001701	in utero embryonic development	IEA	--
GO:0001764	neuron migration	IEA	--

TWIST1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TWIST1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TWIST1
3 Novoseek chemical compound relationships for TWIST1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
paclitaxel	15.3	21	20017221 (5), 14724576 (4), 17230521 (3), 20079104 (3)
tyrosine	0	1	16831897 (1)
estrogen	0	2	15041725 (1), 19540555 (1)

Search CenterWatch for drugs/clinical trials and news about TWIST1 / TWST1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TWIST1 gene:

NM_000474.3

Unigene Clusters for TWIST1:

Twist basic helix-loop-helix transcription factor 1

Hs.66744 [show with all ESTs], Hs.644998 [show with all ESTs]

Unigene Representative Sequences: NM_000474, Y11177

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000443687 ENST00000354571 ENST00000242261(uc003sum.3)

miRNA Products:		OriGene 3'-UTR Clone: TWIST1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TWIST1
		8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate TWIST1 (see all 32):
		hsa-miR-3678-3p hsa-miR-300 hsa-miR-25 hsa-miR-4315 hsa-miR-138-2* hsa-miR-3916 hsa-miR-4267 hsa-miR-298

		SwitchGear 3'UTR luciferase reporter plasmid: TWIST1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TWIST1 (see all 7) OriGene shRNA RFP: TWIST1 OriGene siRNA: TWIST1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TWIST1
		Sirion Biotech Custom design and validation of potent shRNA sequences against TWIST1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TWIST1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TWIST1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TWIST1 (NM_000474)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TWIST1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TWIST1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TWIST1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TWIST1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TWIST1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TWIST1

Additional cDNA sequence:

Y11177.1 Y11179.1

5 DOTS entries:

DT.100695317 DT.100675319 DT.100766060 DT.100836033 DT.121052207

24/52 AceView cDNA sequences (see all 52):

NM_000474 BX117494 BC036704 AI927089 CR595340 BQ959402 CR619156 AI220198

AI559894 BU624480 BX459175 AI561183 Y11178 CA436759 AI678806 AI953466

BU619355 AW274606 BU632186 BX403883 BX336087 BX383388 BI492257 Y11177

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TWIST1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTAAAATGCA

About this image

TWIST1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/35 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 35)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lateral Plate Mesoderm

Cardiogenic Mesoderm

Pre-endocardial Cells

Endocardium

Bone

Autopod Periosteum

Immature Endochondral Osteoblasts

Bone

Caudal Endochondral Bones

Endochondral Preosteoblasts

Bone

Cervical Vertebrae

Immature Endochondral Osteoblasts

Bone

Cervical Vertebrae

Osteochondro Mesenchymal Cells

Bone, Cartilage

Bone

Endochondral Facial Bones

Endochondral Preosteoblasts

Bone

Facial Sutures

Facial Presumptive Suture Cells

Bone

Lumbar Vertebrae

Immature Endochondral Osteoblasts

Bone

Lumbar Vertebrae

Osteochondro Mesenchymal Cells

Bone, Cartilage

Bone

Membranous Facial Bones

Intramembranous Preosteoblasts

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Mesenchymal Precursor Cells (STRO-3 selected) (Adult Stem / Progenitor Cell)

Bone

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

See TWIST1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TWIST1

SOURCE GeneReport for Unigene clusters: Hs.66744 Hs.644998

UniProtKB/Swiss-Prot: TWST1_HUMAN, Q15672

Tissue specificity: Subset of mesodermal cells

SABiosciences Expression via Pathway-Focused PCR Arrays including TWIST1 (see all 6):

Osteogenesis in human mouse rat

WNT Signaling Targets in human mouse rat

Breast Cancer in human mouse rat

Cellular Senescence in human mouse rat

Epithelial to Mesenchymal Transition (EMT) in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TWIST1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TWIST1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TWIST1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TWIST1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TWIST1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TWIST1 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TWIST1¹	twist homolog 1 (Drosophila)	89.42(n) 93.65(a)		395491 NM_204739.1 NP_990070.1
African clawed frog (Xenopus laevis)	Amphibia	twist1-A²	twist homolog 1	84.95(n)		M27730.1
zebrafish (Danio rerio)	Actinopterygii	twist1²	twist1	78.71(n)		30175 AF205259.1
fruit fly (Drosophila melanogaster)	Insecta	twi¹	twist	61.94(n) 57.5(a)		37655 NM_001038878.1 NP_001033967.1
worm (Caenorhabditis elegans)	Secernentea	hlh-8⁶	Twist-related protein	21(a)	1 → many	X(8116587-8120057)

ENSEMBL Gene Tree for TWIST1 (if available)
TreeFam Gene Tree for TWIST1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TWIST1 gene

TCF24² NHLH1² TAL1² TWIST2² HAND2² TCF23² LYL1² NHLH2²

TAL2² TCF15² SCXB² TCF21² HAND1² MSC² SCXA²

5 SIMAP similar genes for TWIST1 using alignment to 3 protein entries: TWST1_HUMAN (see all proteins):

TWIST2 TAL2 NHLH2 TCF24 BHLHE22

TWIST1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894055^1,2	C	pathogenic	19208312(-)	`GGCAGC/TAGCCG`	2	Q *	stg¹		0	--	--	--	--
rs138498449^1,2		--	19154618(+)	`TTCTAG/TGCATT`	1	--	ds500¹		0	--	--	--	--
rs141943844^1,2		--	19154640(+)	`CTATAA/TGTGTA`	1	--	ds500¹		0	--	--	--	--
rs150673618^1,2		--	19154705(+)	`GGAATC/TTTCAC`	1	--	ds500¹		0	--	--	--	--
rs192688918^1,2		--	19154821(+)	`AGGAGA/GTGAAT`	1	--	ds500¹		0	--	--	--	--
rs139083921^1,2		--	19155074(+)	`AAATAC/TAGACC`	1	--	ds500¹		0	--	--	--	--
rs147172672^1,2		--	19156014(+)	`CCTTAC/TCCGTG`	1	--	int¹		0	--	--	--	--
rs183006608^1,2		--	19156140(+)	`GGGGAA/CGCTGG`	1	--	int¹		0	--	--	--	--
rs188412313^1,2		--	19156192(+)	`CGGAGA/TGTGGG`	1	--	int¹		0	--	--	--	--
rs200489094^1,2	F	--	19156408(+)	`TCGTGA/GGCCAC`	2	A	syn¹		1		EU	223

HapMap Linkage Disequilibrium report for TWIST1 (19060614 - 19157295 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TWIST1
1 CNV: 0100
Human Gene Mutation Database (HGMD): TWIST1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TWIST1 for disorders           About GeneDecksing

OMIM gene information: 601622
OMIM disorders: 101400  123100
UniProtKB/Swiss-Prot: TWST1_HUMAN, Q15672

Defects in TWIST1 are a cause of Saethre-Chotzen syndrome (SCS) [MIM:101400]; also known as

acrocephalosyndactyly type 3 (ACS3). SCS is a craniosynostosis syndrome characterized by coronal synostosis,

brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly

Defects in TWIST1 are the cause of Robinow-Sorauf syndrome (RSS) [MIM:180750]; also known as

craniosynostosis-bifid hallux syndrome. RSS is an autosomal dominant defect characterized by minor skull and limb

anomalies which is very similar to Saethre-Chotzen syndrome

Defects in TWIST1 are the cause of craniosynostosis type 1 (CRS1) [MIM:123100]. Craniosynostosis consists of

premature fusion of one or more cranial sutures, resulting in an abnormal head shape

20/81 diseases for TWIST1 (see all 81): About MalaCards

saethre-chotzen syndrome baller-gerold syndrome saethre-chotzen syndrome with eyelid anomalies progesterone-receptor negative breast cancer

blepharophimosis robinow sorauf syndrome spermatic cord torsion ptosis

hyper-ige syndrome craniofacial anomalies cleft lip/palate radioulnar synostosis

muenke syndrome non-small cell lung carcinoma sensorineural hearing loss intestinal volvulus

pfeiffer syndrome synostosis cleft lip craniosynostosis

2 diseases from the University of Copenhagen DISEASES database for TWIST1:

Acrocephalosyndactylia Craniosynostosis

10/33 Novoseek disease relationships for TWIST1 gene (see all 33) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
saethre-chotzen syndrome	97.9	75	10094188 (5), 10649491 (3), 9585583 (3), 14513358 (3) (see all 36)
craniosynostosis	91.3	53	11748846 (3), 15099347 (3), 17414280 (3), 12407713 (2) (see all 34)
synostosis	77.6	6	15253176 (1), 17552943 (1), 9585583 (1), 19483581 (1)
muenke syndrome	74.3	1	17070479 (1)
pfeiffer syndrome	73	1	11173845 (1)
baller-gerold syndrome	68.6	3	11754069 (2), 9934984 (1)
brachycephaly	67.1	1	9585583 (1)
metastasis	60.8	88	17987801 (4), 16822877 (4), 18297062 (3), 18635960 (3) (see all 32)
clinodactyly	57.5	1	9585583 (1)
breast cancer	50	26	15864483 (3), 17437280 (2), 18062917 (2), 16322226 (2) (see all 17)

GeneTests: TWIST1

Saethre-Chotzen Syndrome

Genetic Association Database (GAD): TWIST1
Human Genome Epidemiology (HuGE) Navigator: TWIST1 (10 documents)

Export disorders for TWIST1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TWIST1 gene, integrated from 9 sources (see all 352):
(articles sorted by number of sources associating them with TWIST1)

Utopia: connect your pdf to the dynamic
world of online information

The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart. (PubMed id 8995765)^{1, 2, 3} Bourgeois P....Perrin-Schmitt F. (1996)
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. (PubMed id 8988167)^{1, 2, 9} el Ghouzzi V....Bonaventure J. (1997)
Another TWIST on Baller-Gerold syndrome. (PubMed id 11754069)^{1, 2, 9} Seto M.L.... Cunningham M.L. (2001)
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. (PubMed id 8988166)^{1, 2, 9} Howard T.D....Jabs E.W. (1997)
Translocation breakpoint maps 5 kb 3-prime from TWIST in a patient affected with Saethre-Chotzen syndrome. (PubMed id 9215678)^{1, 2, 9} Krebs I.... Kunz J. (1997)
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. (PubMed id 17343269)^{1, 2, 9} Seto M.L.... Cunningham M.L. (2007)
Genetic and environmental risk factors for sagittal craniosynostosis. (PubMed id 12218784)^{1, 4, 9} Zeiger J.S....VanderKolk C. (2002)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{1, 2} Scherer S.W.... Tsui L.-C. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7291	HGNC: 12428	AceView: TWIST1	Ensembl:ENSG00000122691	euGenes: HUgn7291
ECgene: TWIST1	H-InvDB: TWIST1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TWIST1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TWIST1

Intellectual Property for TWIST1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TWIST1 gene:
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GeneCards and IP:
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TWIST1 Gene

twist basic helix-loop-helix transcription factor 1

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Saethre-Chotzen Syndrome
Gastric Cancer
BRACHYCEPHALY
GASTRIC CARCINOMA
BREAST CARCINOMA
Synostosis
Pfeiffer Syndrome
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benign prostatic hyperplasia
craniofacial anomaly
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TWIST1 Gene

twist basic helix-loop-helix transcription factor 1

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