ALX4_MOUSE
ID ALX4_MOUSE Reviewed; 399 AA.
AC O35137;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 1.
DT 03-AUG-2022, entry version 179.
DE RecName: Full=Homeobox protein aristaless-like 4;
DE AltName: Full=ALX-4;
GN Name=Alx4;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC STRAIN=C57BL/6J; TISSUE=Embryo;
RX PubMed=9426253; DOI=10.1016/s0378-1119(97)00497-6;
RA Qu S., Li L., Wisdom R.;
RT "Alx-4: cDNA cloning and characterization of a novel paired-type
RT homeodomain protein.";
RL Gene 203:217-223(1997).
RN [2]
RP VARIANT LST GLN-206.
RX PubMed=9636085; DOI=10.1242/dev.125.14.2711;
RA Qu S., Tucker S.C., Ehrlich J.S., Levorse J.M., Flaherty L.A., Wisdom R.,
RA Vogt T.F.;
RT "Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly.";
RL Development 125:2711-2721(1998).
CC -!- FUNCTION: Transcription factor involved in skull and limb development.
CC -!- SUBUNIT: Binds DNA.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Expressed in osteoblasts. Not expressed in brain,
CC heart, intestine, kidney, liver, muscle, spleen and testis.
CC -!- DEVELOPMENTAL STAGE: Expressed from 8.25 dpc and confined to
CC mesenchymal cells throughout the embryo development. Expression is seen
CC at several sites including craniofacial region, first branchial arch
CC and anterior aspect of the limb bud.
CC -!- DISEASE: Note=Defects in Alx4 are the cause of Strong luxoid (lst)
CC phenotype. At heterozygosity lst is characterized by preaxial
CC abnormalities of the hindfeet and, very rarely, of the forefeet.
CC Homozygotes show preaxial polydactyly of all four limbs, reductions and
CC duplications of the radius, absence of the tibia, craniofacial defects,
CC reduction of the pubis, and dorsal alopecia.
CC {ECO:0000269|PubMed:9636085}.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
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DR EMBL; AF001465; AAC39943.1; -; mRNA.
DR CCDS; CCDS16455.1; -.
DR PIR; JC6522; JC6522.
DR RefSeq; NP_031468.1; NM_007442.3.
DR AlphaFoldDB; O35137; -.
DR BMRB; O35137; -.
DR SMR; O35137; -.
DR BioGRID; 198081; 32.
DR IntAct; O35137; 30.
DR STRING; 10090.ENSMUSP00000047962; -.
DR iPTMnet; O35137; -.
DR PhosphoSitePlus; O35137; -.
DR MaxQB; O35137; -.
DR PaxDb; O35137; -.
DR PRIDE; O35137; -.
DR ProteomicsDB; 296398; -.
DR Antibodypedia; 13210; 309 antibodies from 21 providers.
DR DNASU; 11695; -.
DR Ensembl; ENSMUST00000042078; ENSMUSP00000047962; ENSMUSG00000040310.
DR GeneID; 11695; -.
DR KEGG; mmu:11695; -.
DR UCSC; uc012bzt.1; mouse.
DR CTD; 60529; -.
DR MGI; MGI:108359; Alx4.
DR VEuPathDB; HostDB:ENSMUSG00000040310; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000159662; -.
DR HOGENOM; CLU_047013_0_0_1; -.
DR InParanoid; O35137; -.
DR OMA; PCYGKDN; -.
DR OrthoDB; 738339at2759; -.
DR PhylomeDB; O35137; -.
DR TreeFam; TF350743; -.
DR BioGRID-ORCS; 11695; 2 hits in 71 CRISPR screens.
DR PRO; PR:O35137; -.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; O35137; protein.
DR Bgee; ENSMUSG00000040310; Expressed in mesenchyme of fronto-nasal process and 68 other tissues.
DR ExpressionAtlas; O35137; baseline and differential.
DR Genevisible; O35137; MM.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0005667; C:transcription regulator complex; IDA:MGI.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:MGI.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0071837; F:HMG box domain binding; IPI:UniProtKB.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IMP:MGI.
DR GO; GO:0048565; P:digestive tract development; IMP:MGI.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IMP:MGI.
DR GO; GO:0035115; P:embryonic forelimb morphogenesis; IGI:MGI.
DR GO; GO:0035116; P:embryonic hindlimb morphogenesis; IGI:MGI.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IMP:MGI.
DR GO; GO:0001942; P:hair follicle development; ISO:MGI.
DR GO; GO:0035108; P:limb morphogenesis; IMP:MGI.
DR GO; GO:0007517; P:muscle organ development; IMP:MGI.
DR GO; GO:0007389; P:pattern specification process; IGI:MGI.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0009791; P:post-embryonic development; IMP:MGI.
DR GO; GO:0042981; P:regulation of apoptotic process; IGI:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IDA:MGI.
DR GO; GO:0060021; P:roof of mouth development; IGI:MGI.
DR GO; GO:0048705; P:skeletal system morphogenesis; IMP:MGI.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR033203; ALX4.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR003654; OAR_dom.
DR PANTHER; PTHR24329:SF322; PTHR24329:SF322; 3.
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 1: Evidence at protein level;
KW Activator; Developmental protein; Disease variant; DNA-binding; Homeobox;
KW Nucleus; Phosphoprotein; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..399
FT /note="Homeobox protein aristaless-like 4"
FT /id="PRO_0000048815"
FT DNA_BIND 202..261
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 68..133
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 171..206
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 379..392
FT /note="OAR"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00138"
FT COMPBIAS 74..91
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 92..108
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 188
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9H161"
FT VARIANT 206
FT /note="R -> Q (in lst; abolishes DNA binding and
FT transcriptional activation)"
FT /evidence="ECO:0000269|PubMed:9636085"
SQ SEQUENCE 399 AA; 42763 MW; 2EDE19DDACA21D25 CRC64;
MNAETCVSYC ESPAAAMDAY YSPVSQSREG SSPFRGFPGG DKFGTTFLSA GAKGQGFGDA
KSRARYGAGQ QDLAAPLESS SGARGSFNKF QPQPPTPQPP PAPPAPPAHL YLQRGACKTP
PDGSLKLQEG SGGHNAALQV PCYAKESNLG EPELPPDSEP VGMDNSYLSV KETGAKGPQD
RASAEIPSPL EKTDSESNKG KKRRNRTTFT SYQLEELEKV FQKTHYPDVY AREQLAMRTD
LTEARVQVWF QNRRAKWRKR ERFGQMQQVR THFSTAYELP LLTRAENYAQ IQNPSWIGNN
GAASPVPACV VPCDPVPACM SPHAHPPGSG ASSVSDFLSV SGAGSHVGQT HMGSLFGAAG
ISPGLNGYEM NGEPDRKTSS IAALRMKAKE HSAAISWAT
