Gene: Alx4

Basic information

Tag Content
Uniprot ID O35137
Entrez ID 11695
Genbank protein ID AAC39943.1
Genbank nucleotide ID NM_007442.3
Ensembl protein ID ENSMUSP00000047962
Ensembl nucleotide ID ENSMUSG00000040310
Gene name Homeobox protein aristaless-like 4
Gene symbol Alx4
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E14.5
Data sources Manually collected
Reference 9847249; 11641221;
Functional description Transcription factor involved in skull and limb development.
Sequence
MNAETCVSYC ESPAAAMDAY YSPVSQSREG SSPFRGFPGG DKFGTTFLSA GAKGQGFGDA 60
KSRARYGAGQ QDLAAPLESS SGARGSFNKF QPQPPTPQPP PAPPAPPAHL YLQRGACKTP 120
PDGSLKLQEG SGGHNAALQV PCYAKESNLG EPELPPDSEP VGMDNSYLSV KETGAKGPQD 180
RASAEIPSPL EKTDSESNKG KKRRNRTTFT SYQLEELEKV FQKTHYPDVY AREQLAMRTD 240
LTEARVQVWF QNRRAKWRKR ERFGQMQQVR THFSTAYELP LLTRAENYAQ IQNPSWIGNN 300
GAASPVPACV VPCDPVPACM SPHAHPPGSG ASSVSDFLSV SGAGSHVGQT HMGSLFGAAG 360
ISPGLNGYEM NGEPDRKTSS IAALRMKAKE HSAAISWAT 399

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologALX4609979E2RLA0Canis lupus familiarisPredictionMore>>
1:1 orthologALX4A0A452E379Capra hircusPredictionMore>>
1:1 orthologALX460529Q9H161Homo sapiensPredictionMore>>
1:1 orthologAlx411695O35137CPOE14.5Mus musculusPublicationMore>>
1:1 orthologALX4H2Q3G4Pan troglodytesPredictionMore>>
1:1 orthologALX4A0A287A150Sus scrofaPredictionMore>>
1:1 orthologALX4100347124G1SSX0Oryctolagus cuniculusPredictionMore>>
1:1 orthologAlx4296511D3ZEM1Rattus norvegicusPredictionMore>>
1:1 orthologalx4a100006399E7FGP3Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIBA
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIDA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIBA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIBA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIDA
GO:0003700 DNA-binding transcription factor activityIDA
GO:0005515 protein bindingIPI
GO:0043565 sequence-specific DNA bindingIDA
GO:0071837 HMG box domain bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0001942 hair follicle developmentISO
GO:0006357 regulation of transcription by RNA polymerase IIIDA
GO:0007389 pattern specification processIGI
GO:0007517 muscle organ developmentIMP
GO:0009791 post-embryonic developmentIMP
GO:0009952 anterior/posterior pattern specificationIMP
GO:0009952 anterior/posterior pattern specificationIGI
GO:0035108 limb morphogenesisIMP
GO:0035108 limb morphogenesisIGI
GO:0035115 embryonic forelimb morphogenesisIGI
GO:0035116 embryonic hindlimb morphogenesisIGI
GO:0042733 embryonic digit morphogenesisIMP
GO:0042733 embryonic digit morphogenesisIGI
GO:0042981 regulation of apoptotic processIGI
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIGI
GO:0048565 digestive tract developmentIMP
GO:0048704 embryonic skeletal system morphogenesisIGI
GO:0048704 embryonic skeletal system morphogenesisIMP
GO:0048705 skeletal system morphogenesisIMP
GO:0060021 roof of mouth developmentIGI

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005634 nucleusIBA
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmISO
GO:0005667 transcription factor complexIPI
GO:0005667 transcription factor complexIDA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0010 Activator
KW-0217 Developmental protein
KW-0225 Disease mutation
KW-0238 DNA-binding
KW-0371 Homeobox
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR033203 ALX4
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR003654 OAR_dom

PROSITE

PROSITE ID PROSITE Term
PS00027 HOMEOBOX_1
PS50071 HOMEOBOX_2
PS50803 OAR

Pfam

Pfam ID Pfam Term
PF00046 Homeodomain
PF03826 OAR

Protein-protein interaction

Protein-miRNA interaction