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Protein

ALX homeobox protein 1

Gene

ALX1

Organism
Homo sapiens (Human)
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:9753625, PubMed:8756334). 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:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509).4 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000180318.3
HGNCiHGNC:1494 ALX1
MIMi601527 gene
neXtProtiNX_Q15699

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

Involvement in diseasei

Frontonasal dysplasia 3 (FND3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.
See also OMIM:613456

Organism-specific databases

DisGeNETi8092
MalaCardsiALX1
MIMi613456 phenotype
OpenTargetsiENSG00000180318
Orphaneti306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
PharmGKBiPA162376294

Polymorphism and mutation databases

BioMutaiALX1
DMDMi90111820

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000488551 – 326ALX homeobox protein 1Add BLAST326

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12PhosphoserineCombined sources1
Modified residuei69PhosphoserineCombined sources1
Modified residuei131N6-acetyllysine; by EP300By similarity1
Modified residuei306PhosphoserineCombined sources1

Post-translational modificationi

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

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ15699
PaxDbiQ15699
PeptideAtlasiQ15699
PRIDEiQ15699
ProteomicsDBi60707

PTM databases

iPTMnetiQ15699
PhosphoSitePlusiQ15699

Expressioni

Tissue specificityi

Cartilage and cervix tissue.1 Publication

Gene expression databases

BgeeiENSG00000180318 Expressed in 52 organ(s), highest expression level in kidney
CleanExiHS_ALX1
ExpressionAtlasiQ15699 baseline and differential
GenevisibleiQ15699 HS

Organism-specific databases

HPAiHPA001598
HPA018905

Interactioni

Subunit structurei

Binds DNA as a homodimer; required for transcriptional activation (PubMed:9753625). Interacts (via homeobox domain) with EP300; acetylates ALX1 and stimulates its transcriptional activity.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
IPO13O948292EBI-750671,EBI-747310

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113764, 2 interactors
IntActiQ15699, 13 interactors
STRINGi9606.ENSP00000315417

Structurei

3D structure databases

ProteinModelPortaliQ15699
SMRiQ15699
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
InParanoidiQ15699
KOiK09334
OMAiSSCMLPR
OrthoDBiEOG091G0B1L
PhylomeDBiQ15699
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

Sequencei

Sequence statusi: Complete.

Q15699-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEFLSEKFAL KSPPSKNSDF YMGAGGPLEH VMETLDNESF YSKASAGKCV
60 70 80 90 100
QAFGPLPRAE HHVRLERTSP CQDSSVNYGI TKVEGQPLHT ELNRAMDNCN
110 120 130 140 150
SLRMSPVKGM QEKGELDELG DKCDSNVSSS KKRRHRTTFT SLQLEELEKV
160 170 180 190 200
FQKTHYPDVY VREQLALRTE LTEARVQVWF QNRRAKWRKR ERYGQIQQAK
210 220 230 240 250
SHFAATYDIS VLPRTDSYPQ IQNNLWAGNA SGGSVVTSCM LPRDTSSCMT
260 270 280 290 300
PYSHSPRTDS SYTGFSNHQN QFSHVPLNNF FTDSLLTGAT NGHAFETKPE
310 320
FERRSSSIAV LRMKAKEHTA NISWAM
Length:326
Mass (Da):36,961
Last modified:March 7, 2006 - v2
Checksum:i9EB7374DE42E041B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti125S → T in AAB08960 (PubMed:8756334).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U31986 mRNA Translation: AAB08960.1
AJ558236, AJ558237 Genomic DNA Translation: CAD90155.1
BC010923 mRNA Translation: AAH10923.1
CCDSiCCDS9028.1
RefSeqiNP_008913.2, NM_006982.2
UniGeneiHs.41683

Genome annotation databases

EnsembliENST00000316824; ENSP00000315417; ENSG00000180318
GeneIDi8092
KEGGihsa:8092

Similar proteinsi

Cross-referencesi

Web resourcesi

Protein Spotlight

The makings of a face - Issue 173 of November 2015

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U31986 mRNA Translation: AAB08960.1
AJ558236, AJ558237 Genomic DNA Translation: CAD90155.1
BC010923 mRNA Translation: AAH10923.1
CCDSiCCDS9028.1
RefSeqiNP_008913.2, NM_006982.2
UniGeneiHs.41683

3D structure databases

ProteinModelPortaliQ15699
SMRiQ15699
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113764, 2 interactors
IntActiQ15699, 13 interactors
STRINGi9606.ENSP00000315417

PTM databases

iPTMnetiQ15699
PhosphoSitePlusiQ15699

Polymorphism and mutation databases

BioMutaiALX1
DMDMi90111820

Proteomic databases

EPDiQ15699
PaxDbiQ15699
PeptideAtlasiQ15699
PRIDEiQ15699
ProteomicsDBi60707

Protocols and materials databases

DNASUi8092
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316824; ENSP00000315417; ENSG00000180318
GeneIDi8092
KEGGihsa:8092

Organism-specific databases

CTDi8092
DisGeNETi8092
EuPathDBiHostDB:ENSG00000180318.3
GeneCardsiALX1
H-InvDBiHIX0018568
HGNCiHGNC:1494 ALX1
HPAiHPA001598
HPA018905
MalaCardsiALX1
MIMi601527 gene
613456 phenotype
neXtProtiNX_Q15699
OpenTargetsiENSG00000180318
Orphaneti306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
PharmGKBiPA162376294
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00900000140809
HOGENOMiHOG000231518
HOVERGENiHBG050798
InParanoidiQ15699
KOiK09334
OMAiSSCMLPR
OrthoDBiEOG091G0B1L
PhylomeDBiQ15699
TreeFamiTF350743

Miscellaneous databases

GeneWikiiALX1
GenomeRNAii8092
PROiPR:Q15699
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180318 Expressed in 52 organ(s), highest expression level in kidney
CleanExiHS_ALX1
ExpressionAtlasiQ15699 baseline and differential
GenevisibleiQ15699 HS

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_HUMAN
AccessioniPrimary (citable) accession number: Q15699
Secondary accession number(s): Q546C8, Q96FH4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: March 7, 2006
Last modified: November 7, 2018
This is version 164 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  4. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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