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Q15672

- TWST1_HUMAN

UniProt

Q15672 - TWST1_HUMAN

Protein

Twist-related protein 1

Gene

TWIST1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 155 (01 Oct 2014)
      Sequence version 1 (01 Nov 1997)
      Previous versions | rss
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    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 similarity

    GO - Molecular functioni

    1. bHLH transcription factor binding Source: BHF-UCL
    2. E-box binding Source: BHF-UCL
    3. protein binding Source: IntAct
    4. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: BHF-UCL
    5. transcription factor binding Source: UniProtKB

    GO - Biological processi

    1. aortic valve morphogenesis Source: BHF-UCL
    2. cardiac neural crest cell migration involved in outflow tract morphogenesis Source: Ensembl
    3. cell proliferation involved in heart valve development Source: BHF-UCL
    4. cellular response to growth factor stimulus Source: Ensembl
    5. cellular response to hypoxia Source: BHF-UCL
    6. cranial suture morphogenesis Source: BHF-UCL
    7. embryonic camera-type eye formation Source: BHF-UCL
    8. embryonic cranial skeleton morphogenesis Source: BHF-UCL
    9. embryonic digit morphogenesis Source: BHF-UCL
    10. embryonic forelimb morphogenesis Source: Ensembl
    11. embryonic hindlimb morphogenesis Source: Ensembl
    12. endocardial cushion morphogenesis Source: Ensembl
    13. eyelid development in camera-type eye Source: BHF-UCL
    14. in utero embryonic development Source: Ensembl
    15. mitral valve morphogenesis Source: Ensembl
    16. muscle organ development Source: UniProtKB-KW
    17. negative regulation of apoptotic process Source: Ensembl
    18. negative regulation of cellular senescence Source: BHF-UCL
    19. negative regulation of DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
    20. negative regulation of double-strand break repair Source: BHF-UCL
    21. negative regulation of histone acetylation Source: Ensembl
    22. negative regulation of histone phosphorylation Source: BHF-UCL
    23. negative regulation of osteoblast differentiation Source: BHF-UCL
    24. negative regulation of oxidative phosphorylation uncoupler activity Source: Ensembl
    25. negative regulation of peroxisome proliferator activated receptor signaling pathway Source: Ensembl
    26. negative regulation of phosphatidylinositol 3-kinase signaling Source: BHF-UCL
    27. negative regulation of sequence-specific DNA binding transcription factor activity Source: Ensembl
    28. negative regulation of skeletal muscle tissue development Source: Ensembl
    29. negative regulation of transcription, DNA-templated Source: UniProtKB
    30. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    31. negative regulation of tumor necrosis factor production Source: Ensembl
    32. neural tube closure Source: Ensembl
    33. neuron migration Source: Ensembl
    34. odontogenesis Source: Ensembl
    35. ossification Source: BHF-UCL
    36. osteoblast differentiation Source: Ensembl
    37. outer ear morphogenesis Source: BHF-UCL
    38. palate development Source: Ensembl
    39. positive regulation of angiogenesis Source: BHF-UCL
    40. positive regulation of cell motility Source: BHF-UCL
    41. positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation Source: Ensembl
    42. positive regulation of epithelial cell proliferation Source: Ensembl
    43. positive regulation of epithelial to mesenchymal transition Source: BHF-UCL
    44. positive regulation of fatty acid beta-oxidation Source: BHF-UCL
    45. positive regulation of gene expression Source: BHF-UCL
    46. positive regulation of interleukin-6 secretion Source: BHF-UCL
    47. positive regulation of monocyte chemotactic protein-1 production Source: BHF-UCL
    48. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    49. positive regulation of transcription regulatory region DNA binding Source: BHF-UCL
    50. positive regulation of tumor necrosis factor production Source: BHF-UCL
    51. regulation of bone mineralization Source: BHF-UCL
    52. rhythmic process Source: UniProtKB-KW
    53. transcription from RNA polymerase II promoter Source: GOC

    Keywords - Molecular functioni

    Activator, Developmental protein, Repressor

    Keywords - Biological processi

    Biological rhythms, Differentiation, Myogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiQ15672.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Twist-related protein 1
    Alternative name(s):
    Class A basic helix-loop-helix protein 38
    Short name:
    bHLHa38
    H-twist
    Gene namesi
    Name:TWIST1
    Synonyms:BHLHA38, TWIST
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:12428. TWIST1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Saethre-Chotzen syndrome (SCS) [MIM:101400]: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti119 – 1191Q → P in SCS. 1 Publication
    VAR_004495
    Natural varianti131 – 1311L → P in SCS. 1 Publication
    VAR_004496
    Natural varianti135 – 1351I → IAALRKII in SCS.
    VAR_004497
    Natural varianti139 – 1391P → PKIIPTLP in SCS.
    VAR_004498
    Natural varianti156 – 1561I → V in SCS; variant form with features overlapping Baller-Gerold syndrome. 1 Publication
    VAR_015219
    Robinow-Sorauf syndrome (RSS) [MIM:180750]: An 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.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Craniosynostosis 1 (CRS1) [MIM:123100]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti186 – 1861A → T in CRS1. 1 Publication
    VAR_034985
    Natural varianti188 – 1881S → L in CRS1. 1 Publication
    VAR_034986

    Keywords - Diseasei

    Craniosynostosis, Disease mutation

    Organism-specific databases

    MIMi101400. phenotype.
    123100. phenotype.
    180750. phenotype.
    Orphaneti35099. Isolated brachycephaly.
    35093. Isolated scaphocephaly.
    794. Saethre-Chotzen syndrome.
    PharmGKBiPA37088.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 202202Twist-related protein 1PRO_0000127483Add
    BLAST

    Proteomic databases

    PaxDbiQ15672.
    PRIDEiQ15672.

    PTM databases

    PhosphoSiteiQ15672.

    Expressioni

    Tissue specificityi

    Subset of mesodermal cells.

    Gene expression databases

    BgeeiQ15672.
    CleanExiHS_TWIST1.
    GenevestigatoriQ15672.

    Interactioni

    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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ETS2P150362EBI-1797287,EBI-1646991
    KAT2BQ928312EBI-1797287,EBI-477430
    SETD8Q9NQR15EBI-1797287,EBI-1268946
    TP53P046379EBI-1797287,EBI-366083

    Protein-protein interaction databases

    BioGridi113142. 21 interactions.
    IntActiQ15672. 12 interactions.
    MINTiMINT-8309513.
    STRINGi9606.ENSP00000242261.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2MJVNMR-A68-79[»]
    ProteinModelPortaliQ15672.
    SMRiQ15672. Positions 109-167.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini108 – 15952bHLHPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni161 – 19131Sufficient for transactivation activityBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi80 – 9819Gly-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG258515.
    HOGENOMiHOG000261629.
    InParanoidiQ15672.
    KOiK09069.
    OMAiDRQPKRC.
    PhylomeDBiQ15672.
    TreeFamiTF315153.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q15672-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMQDVSSSPV SPADDSLSNS EEEPDRQQPP SGKRGGRKRR SSRRSAGGGA    50
    GPGGAAGGGV GGGDEPGSPA QGKRGKKSAG CGGGGGAGGG GGSSSGGGSP 100
    QSYEELQTQR VMANVRERQR TQSLNEAFAA LRKIIPTLPS DKLSKIQTLK 150
    LAARYIDFLY QVLQSDELDS KMASCSYVAH ERLSYAFSVW RMEGAWSMSA 200
    SH 202
    Length:202
    Mass (Da):20,954
    Last modified:November 1, 1997 - v1
    Checksum:i9394E4351BA1D081
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti32 – 321G → A in CAA67664. (PubMed:8995765)Curated
    Sequence conflicti36 – 361G → A in CAA67664. (PubMed:8995765)Curated
    Sequence conflicti41 – 411S → T in CAA62850. (PubMed:9073070)Curated
    Sequence conflicti41 – 411S → T in CAA71821. (PubMed:9215678)Curated
    Sequence conflicti45 – 451S → T in CAA62850. (PubMed:9073070)Curated
    Sequence conflicti45 – 451S → T in CAA71821. (PubMed:9215678)Curated
    Sequence conflicti56 – 561Missing in CAA62850. (PubMed:9073070)Curated
    Sequence conflicti56 – 561Missing in CAA71821. (PubMed:9215678)Curated
    Sequence conflicti59 – 591G → A in CAA67664. (PubMed:8995765)Curated
    Sequence conflicti92 – 921G → GGGGG in CAA67664. (PubMed:8995765)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311S → G.
    Corresponds to variant rs1800126 [ dbSNP | Ensembl ].
    VAR_014821
    Natural varianti84 – 841G → S.
    Corresponds to variant rs2234705 [ dbSNP | Ensembl ].
    VAR_014822
    Natural varianti119 – 1191Q → P in SCS. 1 Publication
    VAR_004495
    Natural varianti131 – 1311L → P in SCS. 1 Publication
    VAR_004496
    Natural varianti135 – 1351I → IAALRKII in SCS.
    VAR_004497
    Natural varianti139 – 1391P → PKIIPTLP in SCS.
    VAR_004498
    Natural varianti156 – 1561I → V in SCS; variant form with features overlapping Baller-Gerold syndrome. 1 Publication
    VAR_015219
    Natural varianti186 – 1861A → T in CRS1. 1 Publication
    VAR_034985
    Natural varianti188 – 1881S → L in CRS1. 1 Publication
    VAR_034986

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006715832.1. XM_006715769.1.
    UniGeneiHs.644998.
    Hs.66744.

    Genome annotation databases

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

    Polymorphism databases

    DMDMi2498009.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS5367.1.
    PIRi G01204.
    RefSeqi NP_000465.1. NM_000474.3.
    XP_006715832.1. XM_006715769.1.
    UniGenei Hs.644998.
    Hs.66744.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2MJV NMR - A 68-79 [» ]
    ProteinModelPortali Q15672.
    SMRi Q15672. Positions 109-167.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113142. 21 interactions.
    IntActi Q15672. 12 interactions.
    MINTi MINT-8309513.
    STRINGi 9606.ENSP00000242261.

    PTM databases

    PhosphoSitei Q15672.

    Polymorphism databases

    DMDMi 2498009.

    Proteomic databases

    PaxDbi Q15672.
    PRIDEi Q15672.

    Protocols and materials databases

    DNASUi 7291.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000242261 ; ENSP00000242261 ; ENSG00000122691 .
    GeneIDi 7291.
    KEGGi hsa:7291.
    UCSCi uc003sum.3. human.

    Organism-specific databases

    CTDi 7291.
    GeneCardsi GC07M019121.
    GeneReviewsi TWIST1.
    HGNCi HGNC:12428. TWIST1.
    MIMi 101400. phenotype.
    123100. phenotype.
    180750. phenotype.
    601622. gene.
    neXtProti NX_Q15672.
    Orphaneti 35099. Isolated brachycephaly.
    35093. Isolated scaphocephaly.
    794. Saethre-Chotzen syndrome.
    PharmGKBi PA37088.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG258515.
    HOGENOMi HOG000261629.
    InParanoidi Q15672.
    KOi K09069.
    OMAi DRQPKRC.
    PhylomeDBi Q15672.
    TreeFami TF315153.

    Enzyme and pathway databases

    SignaLinki Q15672.

    Miscellaneous databases

    ChiTaRSi TWIST1. human.
    GeneWikii Twist_transcription_factor.
    GenomeRNAii 7291.
    NextBioi 28507.
    PROi Q15672.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q15672.
    CleanExi HS_TWIST1.
    Genevestigatori Q15672.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues."
      Wang S.M., Coljee V.W., Pignolo R.J., Rotenberg M.O., Cristofalo V.J., Sierra F.
      Gene 187:83-92(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Lung.
    2. "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."
      Bourgeois P., Stoetzel C., Bolcato-Bellemin A.-L., Mattei M.-G., Perrin-Schmitt F.
      Mamm. Genome 7:915-917(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Placenta.
    3. "Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome."
      Howard T.D., Paznekas W.A., Green E.D., Chiang L.C., Ma N., Ortiz de Luna R.I., Delgado C.G., Gonzalez-Ramos M., Kline A.D., Jabs E.W.
      Nat. Genet. 15:36-41(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SCS PRO-119; ALA-ALA-LEU-ARG-LYS-ILE-ILE-135 INS AND LYS-ILE-ILE-PRO-THR-LEU-PRO-139 INS.
    4. "Translocation breakpoint maps 5 kb 3-prime from TWIST in a patient affected with Saethre-Chotzen syndrome."
      Krebs I., Weis I., Hudler M., Rommens J.M., Roth H., Scherer S.W., Tsui L.-C., Fuchtbauer E.-M., Grzeschik K.-H., Tsuji K., Kunz J.
      Hum. Mol. Genet. 6:1079-1086(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    8. "Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity."
      Sosic D., Richardson J.A., Yu K., Ornitz D.M., Olson E.N.
      Cell 112:169-180(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    9. Cited for: VARIANTS SCS PRO-131 AND LYS-ILE-ILE-PRO-THR-LEU-PRO-139 INS.
    10. Cited for: VARIANT SCS VAL-156.
    11. Cited for: VARIANTS CRS1 THR-186 AND LEU-188.

    Entry informationi

    Entry nameiTWST1_HUMAN
    AccessioniPrimary (citable) accession number: Q15672
    Secondary accession number(s): A4D128, Q92487, Q99804
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 155 of the entry and version 1 of the sequence. [Complete history]
    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.

    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 entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3