ALX1_GEOFO
ID ALX1_GEOFO Reviewed; 328 AA.
AC P0DMV5;
DT 27-MAY-2015, integrated into UniProtKB/Swiss-Prot.
DT 27-MAY-2015, sequence version 1.
DT 25-MAY-2022, entry version 27.
DE RecName: Full=ALX homeobox protein 1 {ECO:0000305};
DE AltName: Full=Cartilage homeoprotein 1 {ECO:0000250|UniProtKB:Q63087};
DE Short=CART-1 {ECO:0000250|UniProtKB:Q63087};
GN Name=ALX1 {ECO:0000250|UniProtKB:Q15699};
GN Synonyms=CART1 {ECO:0000250|UniProtKB:Q8C8B0};
OS Geospiza fortis (Medium ground-finch).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda;
OC Coelurosauria; Aves; Neognathae; Passeriformes; Thraupidae; Geospiza.
OX NCBI_TaxID=48883;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Zhang G.;
RT "The genomic sequence of Geospiza fortis.";
RL Submitted (JUL-2012) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP FUNCTION, AND VARIANTS LEU-112 AND ILE-211.
RX PubMed=25686609; DOI=10.1038/nature14181;
RA Lamichhaney S., Berglund J., Almen M.S., Maqbool K., Grabherr M.,
RA Martinez-Barrio A., Promerova M., Rubin C.J., Wang C., Zamani N.,
RA Grant B.R., Grant P.R., Webster M.T., Andersson L.;
RT "Evolution of Darwin's finches and their beaks revealed by genome
RT sequencing.";
RL Nature 518:371-375(2015).
CC -!- FUNCTION: Sequence-specific DNA-binding transcription factor that binds
CC palindromic sequences within promoters and may activate or repress the
CC transcription of a subset of genes. Most probably regulates the
CC expression of genes involved in the development of mesenchyme-derived
CC craniofacial structures (By similarity). May therefore play a role in
CC beak development and regulate beak shape (PubMed:25686609).
CC {ECO:0000250|UniProtKB:Q15699, ECO:0000269|PubMed:25686609}.
CC -!- SUBUNIT: Binds DNA as a homodimer; required for transcriptional
CC activation. {ECO:0000250|UniProtKB:Q63087}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q15699}.
CC -!- DOMAIN: The OAR motif may negatively regulate DNA-binding and therefore
CC transcriptional activity. It is found in the C-terminal transactivation
CC domain that stimulates transcription. {ECO:0000250|UniProtKB:Q63087}.
CC -!- POLYMORPHISM: Variations in ALX1 may play a key role in beak
CC morphology. Two haplotypes for this gene are observed within the
CC different species of finches. The B haplotype is almost exclusively
CC found in individuals with a blunt beak while the P haplotype is neatly
CC associated with individuals having a peaked beak. There are 335 fixed
CC differences aggregated in the vicinity of the gene between B and P
CC haplotypes including 2 missense mutations at positions 112 and 211. In
CC the medium ground finch, Geospiza fortis which exhibits high
CC intraspecies variation in beak shape, both haplotypes have been
CC reported but a significant association with beak shape has also been
CC observed. Finch beak morphology observed on the Galapagos Islands was
CC used by Charles Darwin to formulate his theory of evolution.
CC {ECO:0000269|PubMed:25686609}.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=The makings of a face
CC - Issue 173 of November 2015;
CC URL="https://web.expasy.org/spotlight/back_issues/173/";
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AKZB01051996; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AKZB01051997; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; XP_005421635.1; XM_005421578.1.
DR AlphaFoldDB; P0DMV5; -.
DR SMR; P0DMV5; -.
DR Ensembl; ENSGFOT00000000665; ENSGFOP00000000650; ENSGFOG00000000493.
DR GeneID; 102033603; -.
DR KEGG; gfr:102033603; -.
DR CTD; 8092; -.
DR OrthoDB; 738339at2759; -.
DR Proteomes; UP000504602; Unplaced.
DR GO; GO:0005794; C:Golgi apparatus; IEA:Ensembl.
DR GO; GO:0016604; C:nuclear body; IEA:Ensembl.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0001755; P:neural crest cell migration; IEA:InterPro.
DR GO; GO:0010718; P:positive regulation of epithelial to mesenchymal transition; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR033209; ALX1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR003654; OAR_dom.
DR PANTHER; PTHR24329:SF359; PTHR24329:SF359; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF03826; OAR; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS50803; OAR; 1.
PE 3: Inferred from homology;
KW Activator; Developmental protein; DNA-binding; Homeobox; Nucleus;
KW Reference proteome; Repressor; Transcription; Transcription regulation.
FT CHAIN 1..328
FT /note="ALX homeobox protein 1"
FT /id="PRO_0000433022"
FT DNA_BIND 134..193
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 194..328
FT /note="Transactivation domain"
FT /evidence="ECO:0000250|UniProtKB:Q63087"
FT MOTIF 308..321
FT /note="OAR"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00138"
FT VARIANT 112
FT /note="P -> L (associated with P haplotype)"
FT /evidence="ECO:0000269|PubMed:25686609"
FT VARIANT 211
FT /note="V -> I (associated with P haplotype)"
FT /evidence="ECO:0000269|PubMed:25686609"
SQ SEQUENCE 328 AA; 37324 MW; CE46C3E7B14DD687 CRC64;
MIMDFLSEKF ALKSQPSKNS DFYMGAGGSL EHVMETLDNE SFYSKTSGSK CVQAFNPLQR
AEHHVRLERT SPCQDTNVNY GITKVEGQPL HTELSRPMDN CNNLRMSPVK GPQEKGDLDE
LGDKCDSNVS SSKKRRHRTT FTSLQLEELE KVFQKTHYPD VYVREQLALR TELTEARVQV
WFQNRRAKWR KRERYGQIQQ AKSHFAATYD VSVLPRTDSY PQIQNNLWAG NAASGSVVTS
CMLPRDTSSC MTPYSHSPRT DSGYTGFSNH QNQFSHMPLN NFFTDSLLSG ATNGHAFETK
PEFERRSSSI AVLRMKAKEH AANISWAM
