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Protein

ALX homeobox protein 1

Gene

ALX1

Organism
Homo sapiens (Human)
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: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

  • RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding Source: NTNU_SB
  • transcription corepressor activity Source: ProtInc
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

  • anterior/posterior pattern specification Source: Ensembl
  • cartilage condensation Source: ProtInc
  • embryonic limb morphogenesis Source: Ensembl
  • embryonic skeletal system morphogenesis Source: Ensembl
  • multicellular organism development Source: ProtInc
  • negative regulation of transcription from RNA polymerase II promoter Source: MGI
  • neural crest cell migration Source: InterPro
  • neural tube closure Source: Ensembl
  • palate development Source: Ensembl
  • 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: NTNU_SB
  • transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000180318-MONOMER.

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

HGNCiHGNC:1494. ALX1.

Subcellular locationi

GO - Cellular componenti

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

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

PaxDbiQ15699.
PeptideAtlasiQ15699.
PRIDEiQ15699.

PTM databases

iPTMnetiQ15699.
PhosphoSitePlusiQ15699.

Expressioni

Tissue specificityi

Cartilage and cervix tissue.1 Publication

Gene expression databases

BgeeiENSG00000180318.
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

Protein-protein interaction databases

BioGridi113764. 2 interactors.
IntActiQ15699. 1 interactor.
MINTiMINT-1465062.
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
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG050798.
InParanoidiQ15699.
KOiK09334.
OMAiHVSLNNF.
OrthoDBiEOG091G0B1L.
PhylomeDBiQ15699.
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.

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.

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. 1 interactor.
MINTiMINT-1465062.
STRINGi9606.ENSP00000315417.

PTM databases

iPTMnetiQ15699.
PhosphoSitePlusiQ15699.

Polymorphism and mutation databases

BioMutaiALX1.
DMDMi90111820.

Proteomic databases

PaxDbiQ15699.
PeptideAtlasiQ15699.
PRIDEiQ15699.

Protocols and materials databases

DNASUi8092.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316824; ENSP00000315417; ENSG00000180318.
GeneIDi8092.
KEGGihsa:8092.

Organism-specific databases

CTDi8092.
DisGeNETi8092.
GeneCardsiALX1.
H-InvDBHIX0018568.
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.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG050798.
InParanoidiQ15699.
KOiK09334.
OMAiHVSLNNF.
OrthoDBiEOG091G0B1L.
PhylomeDBiQ15699.
TreeFamiTF350743.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000180318-MONOMER.

Miscellaneous databases

GeneWikiiALX1.
GenomeRNAii8092.
PROiQ15699.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180318.
CleanExiHS_ALX1.
ExpressionAtlasiQ15699. baseline and differential.
GenevisibleiQ15699. HS.

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_HUMAN
AccessioniPrimary (citable) accession number: Q15699
Secondary accession number(s): Q546C8, Q96FH4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: March 7, 2006
Last modified: November 2, 2016
This is version 151 of the entry and version 2 of the sequence. [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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  4. 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.