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Protein

ALX homeobox protein 1

Gene

Alx1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes (PubMed:12929931). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:8673125). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (By similarity).By similarity2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi132 – 191HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

  • anterior/posterior pattern specification Source: MGI
  • embryonic limb morphogenesis Source: MGI
  • embryonic skeletal system morphogenesis Source: MGI
  • mesenchymal cell development Source: MGI
  • negative regulation of transcription from RNA polymerase II promoter Source: MGI
  • neural crest cell migration Source: InterPro
  • neural tube closure Source: MGI
  • palate development Source: MGI
  • positive regulation of epithelial to mesenchymal transition Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
ALX homeobox protein 1Curated
Alternative name(s):
Cartilage homeoprotein 1By similarity
Short name:
CART-1By similarity
Gene namesi
Name:Alx1Imported
Synonyms:Cart11 Publication
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 10

Organism-specific databases

MGIiMGI:104621. Alx1.

Subcellular locationi

GO - Cellular componenti

  • Golgi apparatus Source: MGI
  • nucleoplasm Source: MGI
  • nucleus Source: UniProtKB
  • transcription factor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Disruption phenotypei

Mice lacking Alx1 die within 24 hours of birth. The overt phenotype is acrania and degeneration of unprotected brain tissues. This is most probably the cause of the death since no other abnormality in limbs and visceral tissues is observed. The defect in cranial bone formation may be a consequence of extensive loss of forebrain head mesenchyme due to cell death and neural tube closure defects earlier during development. The penetrance of the acrania/meroanencephaly phenotype is variable between mice strains. Heterozygous mice appear normal and fertile.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi131K → R: Loss of acetylation. Decreased binding affinity to EP300. Loss of EP300-mediated transcriptional coactivation. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000488561 – 326ALX homeobox protein 1Add BLAST326

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12PhosphoserineBy similarity1
Modified residuei69PhosphoserineBy similarity1
Modified residuei131N6-acetyllysine; by EP3001 Publication1
Modified residuei306PhosphoserineBy similarity1

Post-translational modificationi

Acetylated at Lys-131 by EP300; increases interaction with EP300 and stimulates ALX1 transcriptional activity.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ8C8B0.
PaxDbiQ8C8B0.
PRIDEiQ8C8B0.

PTM databases

PhosphoSitePlusiQ8C8B0.

Expressioni

Developmental stagei

At E8.5 and E9.5 expression is restricted to forebrain mesenchymal cells.1 Publication

Gene expression databases

BgeeiENSMUSG00000036602.
CleanExiMM_ALX1.
GenevisibleiQ8C8B0. MM.

Interactioni

Subunit structurei

Binds DNA as a homodimer; required for transcriptional activation (By similarity). Interacts (via homeobox domain) with EP300; acetylates ALX1 and stimulates its transcriptional activity (PubMed:12929931).By similarity1 Publication

GO - Molecular functioni

  • protein heterodimerization activity Source: MGI

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000042512.

Structurei

3D structure databases

ProteinModelPortaliQ8C8B0.
SMRiQ8C8B0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni192 – 326Transactivation domainBy similarityAdd BLAST135

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi306 – 319OARPROSITE-ProRule annotationAdd BLAST14

Domaini

The OAR motif may negatively regulate DNA-binding and therefore transcriptional activity. It is found in the C-terminal transactivation domain that stimulates transcription.By similarity

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG050798.
InParanoidiQ8C8B0.
KOiK09334.
OMAiHVSLNNF.
OrthoDBiEOG091G0B1L.
PhylomeDBiQ8C8B0.
TreeFamiTF350743.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR033209. ALX1.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PANTHERiPTHR24329:SF359. PTHR24329:SF359. 2 hits.
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.

Q8C8B0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEFLSEKFAL KSPPSKNSDF YMGTGGALEH VMETLDNESF YGKATAGKCV
60 70 80 90 100
QAFGPLPRAE HHVRLDRTSP CQDSSVNYGI TKVEGQPLHT ELNRAMDNCN
110 120 130 140 150
NLRMSPVKGM PEKSELDELG DKCDSNVSSS KKRRHRTTFT SLQLEELEKV
160 170 180 190 200
FQKTHYPDVY VREQLALRTE LTEARVQVWF QNRRAKWRKR ERYGQIQQAK
210 220 230 240 250
SHFAATYDIS VLPRTDSYPQ IQNNLWAGNA SGGSVVTSCM LPRDASSCMT
260 270 280 290 300
PYSHSPRTDS SYTGFSNHQN QFSHVPLNNF FTDSLLTGAT NGHAFETKPE
310 320
FERRSSSIAV LRMKAKEHTA NISWAM
Length:326
Mass (Da):36,931
Last modified:March 1, 2003 - v1
Checksum:i71FF257E137EF4BF
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK047846 mRNA. Translation: BAC33173.1.
AK086731 mRNA. Translation: BAC39730.1.
BC052200 mRNA. Translation: AAH52200.1.
CCDSiCCDS24155.1.
RefSeqiNP_766141.1. NM_172553.4.
XP_006513592.1. XM_006513529.2.
UniGeneiMm.19287.

Genome annotation databases

EnsembliENSMUST00000040859; ENSMUSP00000042512; ENSMUSG00000036602.
ENSMUST00000167156; ENSMUSP00000129230; ENSMUSG00000036602.
GeneIDi216285.
KEGGimmu:216285.
UCSCiuc007gyg.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK047846 mRNA. Translation: BAC33173.1.
AK086731 mRNA. Translation: BAC39730.1.
BC052200 mRNA. Translation: AAH52200.1.
CCDSiCCDS24155.1.
RefSeqiNP_766141.1. NM_172553.4.
XP_006513592.1. XM_006513529.2.
UniGeneiMm.19287.

3D structure databases

ProteinModelPortaliQ8C8B0.
SMRiQ8C8B0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000042512.

PTM databases

PhosphoSitePlusiQ8C8B0.

Proteomic databases

MaxQBiQ8C8B0.
PaxDbiQ8C8B0.
PRIDEiQ8C8B0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000040859; ENSMUSP00000042512; ENSMUSG00000036602.
ENSMUST00000167156; ENSMUSP00000129230; ENSMUSG00000036602.
GeneIDi216285.
KEGGimmu:216285.
UCSCiuc007gyg.1. mouse.

Organism-specific databases

CTDi8092.
MGIiMGI:104621. Alx1.

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG050798.
InParanoidiQ8C8B0.
KOiK09334.
OMAiHVSLNNF.
OrthoDBiEOG091G0B1L.
PhylomeDBiQ8C8B0.
TreeFamiTF350743.

Miscellaneous databases

PROiQ8C8B0.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000036602.
CleanExiMM_ALX1.
GenevisibleiQ8C8B0. MM.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR033209. ALX1.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PANTHERiPTHR24329:SF359. PTHR24329:SF359. 2 hits.
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]
ProtoNetiSearch...

Entry informationi

Entry nameiALX1_MOUSE
AccessioniPrimary (citable) accession number: Q8C8B0
Secondary accession number(s): Q8C370
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: March 1, 2003
Last modified: November 2, 2016
This is version 116 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.