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Q15699

- ALX1_HUMAN

UniProt

Q15699 - ALX1_HUMAN

Protein

ALX homeobox protein 1

Gene

ALX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 2 (07 Mar 2006)
      Previous versions | rss
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    Functioni

    Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in chondrocyte differentiation and may also influence cervix development.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi132 – 19160HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
    3. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB
    4. sequence-specific DNA binding transcription factor activity Source: ProtInc
    5. transcription corepressor activity Source: ProtInc

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. brain development Source: ProtInc
    3. cartilage condensation Source: ProtInc
    4. embryonic limb morphogenesis Source: Ensembl
    5. embryonic skeletal system morphogenesis Source: Ensembl
    6. mesenchymal cell development Source: Ensembl
    7. multicellular organismal development Source: ProtInc
    8. negative regulation of transcription from RNA polymerase II promoter Source: MGI
    9. neural tube closure Source: Ensembl
    10. palate development Source: Ensembl
    11. positive regulation of transcription, DNA-templated Source: UniProtKB
    12. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
    13. transcription from RNA polymerase II promoter Source: ProtInc

    Keywords - Molecular functioni

    Activator, Developmental protein, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ALX homeobox protein 1
    Alternative name(s):
    Cartilage homeoprotein 1
    Short name:
    CART-1
    Gene namesi
    Name:ALX1
    Synonyms:CART1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:1494. ALX1.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB
    2. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Frontonasal dysplasia 3 (FND3) [MIM:613456]: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi613456. phenotype.
    Orphaneti306542. Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome.
    PharmGKBiPA162376294.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 326326ALX homeobox protein 1PRO_0000048855Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei131 – 1311N6-acetyllysineBy similarity

    Post-translational modificationi

    Acetylated at Lys-131 by EP300, leading to increased interaction with EP300 and enhances transcriptional activation activity.By similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ15699.
    PaxDbiQ15699.
    PRIDEiQ15699.

    PTM databases

    PhosphoSiteiQ15699.

    Expressioni

    Tissue specificityi

    Cartilage and cervix tissue.

    Gene expression databases

    BgeeiQ15699.
    CleanExiHS_ALX1.
    GenevestigatoriQ15699.

    Organism-specific databases

    HPAiHPA001598.
    HPA018905.

    Interactioni

    Subunit structurei

    Interacts (via homeobox domain) with EP300.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    IPO13O948292EBI-750671,EBI-747310

    Protein-protein interaction databases

    BioGridi113764. 2 interactions.
    IntActiQ15699. 1 interaction.
    MINTiMINT-1465062.
    STRINGi9606.ENSP00000315417.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15699.
    SMRiQ15699. Positions 128-198.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi306 – 31914OARAdd
    BLAST

    Sequence similaritiesi

    Belongs to the paired homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG304827.
    HOGENOMiHOG000231518.
    HOVERGENiHBG050798.
    InParanoidiQ15699.
    KOiK09334.
    OMAiQLAMRTE.
    OrthoDBiEOG7C2R1F.
    PhylomeDBiQ15699.
    TreeFamiTF350743.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR003654. OAR_dom.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q15699-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEFLSEKFAL KSPPSKNSDF YMGAGGPLEH VMETLDNESF YSKASAGKCV    50
    QAFGPLPRAE HHVRLERTSP CQDSSVNYGI TKVEGQPLHT ELNRAMDNCN 100
    SLRMSPVKGM QEKGELDELG DKCDSNVSSS KKRRHRTTFT SLQLEELEKV 150
    FQKTHYPDVY VREQLALRTE LTEARVQVWF QNRRAKWRKR ERYGQIQQAK 200
    SHFAATYDIS VLPRTDSYPQ IQNNLWAGNA SGGSVVTSCM LPRDTSSCMT 250
    PYSHSPRTDS SYTGFSNHQN QFSHVPLNNF FTDSLLTGAT NGHAFETKPE 300
    FERRSSSIAV LRMKAKEHTA NISWAM 326
    Length:326
    Mass (Da):36,961
    Last modified:March 7, 2006 - v2
    Checksum:i9EB7374DE42E041B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti125 – 1251S → T in AAB08960. (PubMed:8756334)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U31986 mRNA. Translation: AAB08960.1.
    AJ558236, AJ558237 Genomic DNA. Translation: CAD90155.1.
    BC010923 mRNA. Translation: AAH10923.1.
    CCDSiCCDS9028.1.
    RefSeqiNP_008913.2. NM_006982.2.
    XP_005269222.1. XM_005269165.2.
    UniGeneiHs.41683.

    Genome annotation databases

    EnsembliENST00000316824; ENSP00000315417; ENSG00000180318.
    GeneIDi8092.
    KEGGihsa:8092.
    UCSCiuc001tae.4. human.

    Polymorphism databases

    DMDMi90111820.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U31986 mRNA. Translation: AAB08960.1 .
    AJ558236 , AJ558237 Genomic DNA. Translation: CAD90155.1 .
    BC010923 mRNA. Translation: AAH10923.1 .
    CCDSi CCDS9028.1.
    RefSeqi NP_008913.2. NM_006982.2.
    XP_005269222.1. XM_005269165.2.
    UniGenei Hs.41683.

    3D structure databases

    ProteinModelPortali Q15699.
    SMRi Q15699. Positions 128-198.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113764. 2 interactions.
    IntActi Q15699. 1 interaction.
    MINTi MINT-1465062.
    STRINGi 9606.ENSP00000315417.

    PTM databases

    PhosphoSitei Q15699.

    Polymorphism databases

    DMDMi 90111820.

    Proteomic databases

    MaxQBi Q15699.
    PaxDbi Q15699.
    PRIDEi Q15699.

    Protocols and materials databases

    DNASUi 8092.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316824 ; ENSP00000315417 ; ENSG00000180318 .
    GeneIDi 8092.
    KEGGi hsa:8092.
    UCSCi uc001tae.4. human.

    Organism-specific databases

    CTDi 8092.
    GeneCardsi GC12P085674.
    H-InvDB HIX0018568.
    HGNCi HGNC:1494. ALX1.
    HPAi HPA001598.
    HPA018905.
    MIMi 601527. gene.
    613456. phenotype.
    neXtProti NX_Q15699.
    Orphaneti 306542. Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome.
    PharmGKBi PA162376294.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG304827.
    HOGENOMi HOG000231518.
    HOVERGENi HBG050798.
    InParanoidi Q15699.
    KOi K09334.
    OMAi QLAMRTE.
    OrthoDBi EOG7C2R1F.
    PhylomeDBi Q15699.
    TreeFami TF350743.

    Miscellaneous databases

    GeneWikii ALX1.
    GenomeRNAii 8092.
    NextBioi 30733.
    PROi Q15699.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q15699.
    CleanExi HS_ALX1.
    Genevestigatori Q15699.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR003654. OAR_dom.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human Cart-1: structural organization, chromosomal localization, and functional analysis of a cartilage-specific homeodomain cDNA."
      Gordon D.F., Wagner J., Atkinson B.L., Chiono M., Berry R., Sikela J., Gutierrez-Hartmann A.
      DNA Cell Biol. 15:531-541(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "SNPs of transcription factor CART1 in cases with neural tube defects."
      Felder B., Stegmann K., Ermert A., Koch M.C.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "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.
    4. "Human CART1, a paired-class homeodomain protein, activates transcription through palindromic binding sites."
      Cai R.L.
      Biochem. Biophys. Res. Commun. 250:305-311(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    5. "Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia."
      Uz E., Alanay Y., Aktas D., Vargel I., Gucer S., Tuncbilek G., von Eggeling F., Yilmaz E., Deren O., Posorski N., Ozdag H., Liehr T., Balci S., Alikasifoglu M., Wollnik B., Akarsu N.A.
      Am. J. Hum. Genet. 86:789-796(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN FND3.

    Entry informationi

    Entry nameiALX1_HUMAN
    AccessioniPrimary (citable) accession number: Q15699
    Secondary accession number(s): Q546C8, Q96FH4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: March 7, 2006
    Last modified: October 1, 2014
    This is version 132 of the entry and version 2 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3