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Q9H161

- ALX4_HUMAN

UniProt

Q9H161 - ALX4_HUMAN

Protein

Homeobox protein aristaless-like 4

Gene

ALX4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 2 (28 Jul 2009)
      Previous versions | rss
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    Functioni

    Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi214 – 27360HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. sequence-specific DNA binding Source: Ensembl
    3. sequence-specific DNA binding transcription factor activity Source: Ensembl

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. digestive tract development Source: Ensembl
    3. embryonic digit morphogenesis Source: Ensembl
    4. embryonic forelimb morphogenesis Source: Ensembl
    5. embryonic hindlimb morphogenesis Source: Ensembl
    6. embryonic skeletal system morphogenesis Source: Ensembl
    7. hair follicle development Source: UniProtKB
    8. muscle organ development Source: Ensembl
    9. palate development Source: Ensembl
    10. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    11. post-embryonic development Source: Ensembl
    12. regulation of apoptotic process Source: Ensembl
    13. skeletal system development Source: UniProtKB
    14. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein aristaless-like 4
    Gene namesi
    Name:ALX4
    Synonyms:KIAA1788
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:450. ALX4.

    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

    Parietal foramina 2 (PFM2) [MIM:609597]: Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti218 – 2181R → Q in PFM2. 1 Publication
    VAR_010785
    Natural varianti272 – 2721R → P in PFM2. 1 Publication
    VAR_010897
    Frontonasal dysplasia 2 (FND2) [MIM:613451]: 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.
    Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Craniosynostosis 5 (CRS5) [MIM:615529]: 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: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71V → F in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 Publication
    VAR_069279
    Natural varianti211 – 2111K → E in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 Publication
    VAR_069280

    Keywords - Diseasei

    Craniosynostosis, Disease mutation

    Organism-specific databases

    MIMi601224. phenotype.
    609597. phenotype.
    613451. phenotype.
    615529. phenotype.
    Orphaneti228390. Frontonasal dysplasia with alopecia and genital anomaly.
    35093. Isolated scaphocephaly.
    60015. Parietal foramina.
    52022. Potocki-Shaffer syndrome.
    PharmGKBiPA24755.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 411411Homeobox protein aristaless-like 4PRO_0000048814Add
    BLAST

    Proteomic databases

    MaxQBiQ9H161.
    PaxDbiQ9H161.
    PRIDEiQ9H161.

    PTM databases

    PhosphoSiteiQ9H161.

    Expressioni

    Tissue specificityi

    Expression is likely to be restricted to bone. Found in parietal bone.

    Gene expression databases

    BgeeiQ9H161.
    CleanExiHS_ALX4.
    GenevestigatoriQ9H161.

    Interactioni

    Subunit structurei

    Binds DNA.By similarity

    Protein-protein interaction databases

    BioGridi121938. 10 interactions.
    STRINGi9606.ENSP00000332744.

    Structurei

    Secondary structure

    1
    411
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi223 – 23513
    Helixi241 – 25111
    Helixi255 – 26915

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2M0CNMR-A209-280[»]
    ProteinModelPortaliQ9H161.
    SMRiQ9H161. Positions 209-280.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi391 – 40414OARAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi104 – 11512Poly-GlnAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG309608.
    HOGENOMiHOG000231518.
    HOVERGENiHBG004214.
    InParanoidiQ9H161.
    KOiK09451.
    OMAiVSGAGGH.
    OrthoDBiEOG7DRJ35.
    PhylomeDBiQ9H161.
    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.

    Q9H161-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNAETCVSYC ESPAAAMDAY YSPVSQSREG SSPFRAFPGG DKFGTTFLSA    50
    AAKAQGFGDA KSRARYGAGQ QDLATPLESG AGARGSFNKF QPQPSTPQPQ 100
    PPPQPQPQQQ QPQPQPPAQP HLYLQRGACK TPPDGSLKLQ EGSSGHSAAL 150
    QVPCYAKESS LGEPELPPDS DTVGMDSSYL SVKEAGVKGP QDRASSDLPS 200
    PLEKADSESN KGKKRRNRTT FTSYQLEELE KVFQKTHYPD VYAREQLAMR 250
    TDLTEARVQV WFQNRRAKWR KRERFGQMQQ VRTHFSTAYE LPLLTRAENY 300
    AQIQNPSWLG NNGAASPVPA CVVPCDPVPA CMSPHAHPPG SGASSVTDFL 350
    SVSGAGSHVG QTHMGSLFGA ASLSPGLNGY ELNGEPDRKT SSIAALRMKA 400
    KEHSAAISWA T 411
    Length:411
    Mass (Da):44,241
    Last modified:July 28, 2009 - v2
    Checksum:iD41780B230C7E55C
    GO

    Sequence cautioni

    The sequence AAG23961.1 differs from that shown. Reason: Frameshift at positions 314, 323 and 340.
    The sequence BAB47417.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti134 – 1341D → N in AAG23961. (PubMed:11017806)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71V → F in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 Publication
    VAR_069279
    Natural varianti35 – 351R → T.2 Publications
    Corresponds to variant rs3824915 [ dbSNP | Ensembl ].
    VAR_010783
    Natural varianti102 – 1021P → S.1 Publication
    Corresponds to variant rs12421995 [ dbSNP | Ensembl ].
    VAR_010784
    Natural varianti211 – 2111K → E in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 Publication
    VAR_069280
    Natural varianti218 – 2181R → Q in PFM2. 1 Publication
    VAR_010785
    Natural varianti257 – 2571R → T.
    Corresponds to variant rs3824915 [ dbSNP | Ensembl ].
    VAR_058413
    Natural varianti272 – 2721R → P in PFM2. 1 Publication
    VAR_010897
    Natural varianti306 – 3061P → L.1 Publication
    VAR_069281

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF294629 mRNA. Translation: AAG23961.1. Frameshift.
    AF308822
    , AF308823, AF308824, AF308825 Genomic DNA. Translation: AAK38835.1.
    AJ404888 mRNA. Translation: CAC15060.1.
    AJ279074
    , AJ279075, AJ279076, AJ279077 Genomic DNA. Translation: CAC15120.1.
    AB058691 mRNA. Translation: BAB47417.1. Different initiation.
    CCDSiCCDS31468.1.
    RefSeqiNP_068745.2. NM_021926.3.
    UniGeneiHs.436055.

    Genome annotation databases

    EnsembliENST00000329255; ENSP00000332744; ENSG00000052850.
    GeneIDi60529.
    KEGGihsa:60529.
    UCSCiuc001myb.3. human.

    Polymorphism databases

    DMDMi254763249.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF294629 mRNA. Translation: AAG23961.1 . Frameshift.
    AF308822
    , AF308823 , AF308824 , AF308825 Genomic DNA. Translation: AAK38835.1 .
    AJ404888 mRNA. Translation: CAC15060.1 .
    AJ279074
    , AJ279075 , AJ279076 , AJ279077 Genomic DNA. Translation: CAC15120.1 .
    AB058691 mRNA. Translation: BAB47417.1 . Different initiation.
    CCDSi CCDS31468.1.
    RefSeqi NP_068745.2. NM_021926.3.
    UniGenei Hs.436055.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2M0C NMR - A 209-280 [» ]
    ProteinModelPortali Q9H161.
    SMRi Q9H161. Positions 209-280.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121938. 10 interactions.
    STRINGi 9606.ENSP00000332744.

    PTM databases

    PhosphoSitei Q9H161.

    Polymorphism databases

    DMDMi 254763249.

    Proteomic databases

    MaxQBi Q9H161.
    PaxDbi Q9H161.
    PRIDEi Q9H161.

    Protocols and materials databases

    DNASUi 60529.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329255 ; ENSP00000332744 ; ENSG00000052850 .
    GeneIDi 60529.
    KEGGi hsa:60529.
    UCSCi uc001myb.3. human.

    Organism-specific databases

    CTDi 60529.
    GeneCardsi GC11M044238.
    GeneReviewsi ALX4.
    HGNCi HGNC:450. ALX4.
    MIMi 601224. phenotype.
    605420. gene.
    609597. phenotype.
    613451. phenotype.
    615529. phenotype.
    neXtProti NX_Q9H161.
    Orphaneti 228390. Frontonasal dysplasia with alopecia and genital anomaly.
    35093. Isolated scaphocephaly.
    60015. Parietal foramina.
    52022. Potocki-Shaffer syndrome.
    PharmGKBi PA24755.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG309608.
    HOGENOMi HOG000231518.
    HOVERGENi HBG004214.
    InParanoidi Q9H161.
    KOi K09451.
    OMAi VSGAGGH.
    OrthoDBi EOG7DRJ35.
    PhylomeDBi Q9H161.
    TreeFami TF350743.

    Miscellaneous databases

    GeneWikii ALX4.
    GenomeRNAii 60529.
    NextBioi 65433.
    PROi Q9H161.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9H161.
    CleanExi HS_ALX4.
    Genevestigatori Q9H161.

    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. "Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome."
      Wu Y.-Q., Badano J.L., McCaskill C., Vogel H., Potocki L., Shaffer L.G.
      Am. J. Hum. Genet. 67:1327-1332(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)."
      Wuyts W., Cleiren E., Homfray T., Rasore-Quartino A., Vanhoenacker F., Van Hul W.
      J. Med. Genet. 37:916-920(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-35, VARIANT PFM2 PRO-272.
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS THR-35 AND SER-102, VARIANT PFM2 GLN-218.
    4. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
      DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    5. Cited for: INVOLVEMENT IN FND2, FUNCTION, SUBCELLULAR LOCATION.
    6. Cited for: VARIANTS CRS5 PHE-7 AND GLU-211, VARIANT LEU-306, CHARACTERIZATION OF VARIANTS CRS5 PHE-7 AND GLU-211, CHARACTERIZATION OF VARIANT LEU-306.

    Entry informationi

    Entry nameiALX4_HUMAN
    AccessioniPrimary (citable) accession number: Q9H161
    Secondary accession number(s): Q96JN7, Q9H198, Q9HAY9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: July 28, 2009
    Last modified: October 1, 2014
    This is version 134 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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