Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O95076

- ALX3_HUMAN

UniProt

O95076 - ALX3_HUMAN

Protein

Homeobox protein aristaless-like 3

Gene

ALX3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Transcriptional regulator with a possible role in patterning of mesoderm during development.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi153 – 21260HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. embryonic forelimb morphogenesis Source: Ensembl
    2. embryonic hindlimb morphogenesis Source: Ensembl
    3. embryonic skeletal system morphogenesis Source: Ensembl
    4. pattern specification process Source: Ensembl
    5. regulation of apoptotic process Source: Ensembl
    6. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein aristaless-like 3
    Alternative name(s):
    Proline-rich transcription factor ALX3
    Gene namesi
    Name:ALX3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:449. ALX3.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Frontonasal dysplasia 1 (FND1) [MIM:136760]: 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.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti168 – 1681L → V in FND1. 1 Publication
    VAR_063226
    Natural varianti183 – 1831R → W in FND1. 1 Publication
    VAR_063227
    Natural varianti196 – 1961R → W in FND1. 1 Publication
    Corresponds to variant rs121908170 [ dbSNP | Ensembl ].
    VAR_063228
    Natural varianti203 – 2031N → S in FND1. 1 Publication
    VAR_063229

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi136760. phenotype.
    Orphaneti391474. Frontorhiny.
    PharmGKBiPA24754.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 343343Homeobox protein aristaless-like 3PRO_0000048812Add
    BLAST

    Proteomic databases

    PaxDbiO95076.
    PRIDEiO95076.

    PTM databases

    PhosphoSiteiO95076.

    Expressioni

    Gene expression databases

    BgeeiO95076.
    CleanExiHS_ALX3.
    GenevestigatoriO95076.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000358807.

    Structurei

    3D structure databases

    ProteinModelPortaliO95076.
    SMRiO95076. Positions 149-219.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG292934.
    HOGENOMiHOG000231518.
    HOVERGENiHBG004213.
    InParanoidiO95076.
    KOiK09323.
    OMAiPYSHPHG.
    OrthoDBiEOG7DRJ35.
    PhylomeDBiO95076.
    TreeFamiTF350743.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

    O95076-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDPEHCAPFR VGPAPGPYVA SGDEPPGPQG TPAAAPHLHP APPRGPRLTR    50
    FPACGPLEPY LPEPAKPPAK YLQDLGPGPA LNGGHFYEGP AEAEEKTSKA 100
    ASFPQLPLDC RGGPRDGPSN LQGSPGPCLA SLHLPLSPGL PDSMELAKNK 150
    SKKRRNRTTF STFQLEELEK VFQKTHYPDV YAREQLALRT DLTEARVQVW 200
    FQNRRAKWRK RERYGKIQEG RNPFTAAYDI SVLPRTDSHP QLQNSLWASP 250
    GSGSPGGPCL VSPEGIPSPC MSPYSHPHGS VAGFMGVPAP SAAHPGIYSI 300
    HGFPPTLGGH SFEPSSDGDY KSPSLVSLRV KPKEPPGLLN WTT 343
    Length:343
    Mass (Da):36,935
    Last modified:November 25, 2008 - v2
    Checksum:i0BB20630D5CB817B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti72 – 721L → M in AAD01417. (PubMed:11807986)Curated
    Sequence conflicti86 – 861F → L in AAD01417. (PubMed:11807986)Curated
    Sequence conflicti249 – 2491S → G in AAD01418. (PubMed:11807986)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti168 – 1681L → V in FND1. 1 Publication
    VAR_063226
    Natural varianti183 – 1831R → W in FND1. 1 Publication
    VAR_063227
    Natural varianti196 – 1961R → W in FND1. 1 Publication
    Corresponds to variant rs121908170 [ dbSNP | Ensembl ].
    VAR_063228
    Natural varianti203 – 2031N → S in FND1. 1 Publication
    VAR_063229
    Natural varianti234 – 2341P → A.
    Corresponds to variant rs12749726 [ dbSNP | Ensembl ].
    VAR_047475

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF008202 Genomic DNA. Translation: AAD01417.2.
    AF008203 mRNA. Translation: AAD01418.1.
    AL160006 Genomic DNA. Translation: CAI22714.1.
    CH471122 Genomic DNA. Translation: EAW56430.1.
    BC112007 mRNA. Translation: AAI12008.1.
    BC113428 mRNA. Translation: AAI13429.1.
    CCDSiCCDS819.1.
    RefSeqiNP_006483.2. NM_006492.2.
    UniGeneiHs.669953.

    Genome annotation databases

    EnsembliENST00000369792; ENSP00000358807; ENSG00000156150.
    GeneIDi257.
    KEGGihsa:257.
    UCSCiuc001dzb.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF008202 Genomic DNA. Translation: AAD01417.2 .
    AF008203 mRNA. Translation: AAD01418.1 .
    AL160006 Genomic DNA. Translation: CAI22714.1 .
    CH471122 Genomic DNA. Translation: EAW56430.1 .
    BC112007 mRNA. Translation: AAI12008.1 .
    BC113428 mRNA. Translation: AAI13429.1 .
    CCDSi CCDS819.1.
    RefSeqi NP_006483.2. NM_006492.2.
    UniGenei Hs.669953.

    3D structure databases

    ProteinModelPortali O95076.
    SMRi O95076. Positions 149-219.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000358807.

    PTM databases

    PhosphoSitei O95076.

    Proteomic databases

    PaxDbi O95076.
    PRIDEi O95076.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000369792 ; ENSP00000358807 ; ENSG00000156150 .
    GeneIDi 257.
    KEGGi hsa:257.
    UCSCi uc001dzb.3. human.

    Organism-specific databases

    CTDi 257.
    GeneCardsi GC01M110602.
    H-InvDB HIX0023725.
    HIX0159682.
    HGNCi HGNC:449. ALX3.
    MIMi 136760. phenotype.
    606014. gene.
    neXtProti NX_O95076.
    Orphaneti 391474. Frontorhiny.
    PharmGKBi PA24754.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG292934.
    HOGENOMi HOG000231518.
    HOVERGENi HBG004213.
    InParanoidi O95076.
    KOi K09323.
    OMAi PYSHPHG.
    OrthoDBi EOG7DRJ35.
    PhylomeDBi O95076.
    TreeFami TF350743.

    Miscellaneous databases

    GenomeRNAii 257.
    NextBioi 1013.
    PROi O95076.
    SOURCEi Search...

    Gene expression databases

    Bgeei O95076.
    CleanExi HS_ALX3.
    Genevestigatori O95076.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 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.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Combined restriction landmark genomic scanning and virtual genome scans identify a novel human homeobox gene, ALX3, that is hypermethylated in neuroblastoma."
      Wimmer K., Zhu X.-X., Rouillard J.-M., Ambros P.F., Lamb B.J., Kuick R., Eckart M., Weinhausl A., Fonatsch C., Hanash S.M.
      Genes Chromosomes Cancer 33:285-294(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-92.
      Tissue: Neuroblastoma.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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.
    5. Cited for: VARIANTS FND1 VAL-168; TRP-183; TRP-196 AND SER-203.

    Entry informationi

    Entry nameiALX3_HUMAN
    AccessioniPrimary (citable) accession number: O95076
    Secondary accession number(s): O95075, Q5T8M4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 120 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 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3