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Protein

ALX homeobox protein 1

Gene

Alx1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 10

Organism-specific databases

MGIiMGI:104621 Alx1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

iPTMnetiQ8C8B0
PhosphoSitePlusiQ8C8B0

Expressioni

Developmental stagei

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

Gene expression databases

BgeeiENSMUSG00000036602 Expressed in 99 organ(s), highest expression level in frontonasal prominence
CleanExiMM_ALX1
ExpressionAtlasiQ8C8B0 baseline and differential
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-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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00900000140809
HOGENOMiHOG000231518
HOVERGENiHBG050798
InParanoidiQ8C8B0
KOiK09334
OMAiSSCMLPR
OrthoDBiEOG091G0B1L
PhylomeDBiQ8C8B0
TreeFamiTF350743

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR033209 ALX1
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR003654 OAR_dom
PANTHERiPTHR24329:SF359 PTHR24329:SF359, 1 hit
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF03826 OAR, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS50803 OAR, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2P8B9A0A1W2P8B9_MOUSE
ALX homeobox protein 1
Alx1
377Annotation score:
A0A1W2P7M4A0A1W2P7M4_MOUSE
ALX homeobox protein 1
Alx1
255Annotation score:

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
ENSMUST00000218282; ENSMUSP00000151776; ENSMUSG00000036602
ENSMUST00000219194; ENSMUSP00000152018; ENSMUSG00000036602
GeneIDi216285
KEGGimmu:216285
UCSCiuc007gyg.1 mouse

Similar proteinsi

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

iPTMnetiQ8C8B0
PhosphoSitePlusiQ8C8B0

Proteomic databases

MaxQBiQ8C8B0
PaxDbiQ8C8B0
PRIDEiQ8C8B0

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000040859; ENSMUSP00000042512; ENSMUSG00000036602
ENSMUST00000167156; ENSMUSP00000129230; ENSMUSG00000036602
ENSMUST00000218282; ENSMUSP00000151776; ENSMUSG00000036602
ENSMUST00000219194; ENSMUSP00000152018; ENSMUSG00000036602
GeneIDi216285
KEGGimmu:216285
UCSCiuc007gyg.1 mouse

Organism-specific databases

CTDi8092
MGIiMGI:104621 Alx1

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00900000140809
HOGENOMiHOG000231518
HOVERGENiHBG050798
InParanoidiQ8C8B0
KOiK09334
OMAiSSCMLPR
OrthoDBiEOG091G0B1L
PhylomeDBiQ8C8B0
TreeFamiTF350743

Miscellaneous databases

PROiPR:Q8C8B0
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000036602 Expressed in 99 organ(s), highest expression level in frontonasal prominence
CleanExiMM_ALX1
ExpressionAtlasiQ8C8B0 baseline and differential
GenevisibleiQ8C8B0 MM

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR033209 ALX1
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR003654 OAR_dom
PANTHERiPTHR24329:SF359 PTHR24329:SF359, 1 hit
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF03826 OAR, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS50803 OAR, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiALX1_MOUSE
AccessioniPrimary (citable) accession number: Q8C8B0
Secondary accession number(s): Q8C370
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: March 1, 2003
Last modified: November 7, 2018
This is version 130 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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