UniProtKB - Q15699 (ALX1_HUMAN)
ALX homeobox protein 1
ALX1
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 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 132 – 191 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- embryonic skeletal system morphogenesis Source: GO_Central
- negative regulation of transcription, DNA-templated Source: GO_Central
- negative regulation of transcription by RNA polymerase II Source: MGI
- neural crest cell migration Source: InterPro
- positive regulation of epithelial to mesenchymal transition Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: NTNU_SB
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q15699 |
SignaLinki | Q15699 |
Names & Taxonomyi
Protein namesi | Recommended name: ALX homeobox protein 1CuratedAlternative name(s): Cartilage homeoprotein 1By similarity Short name: CART-1By similarity |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1494, ALX1 |
MIMi | 601527, gene |
neXtProti | NX_Q15699 |
VEuPathDBi | HostDB:ENSG00000180318 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Golgi apparatus
- Golgi apparatus Source: HPA
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- chromatin Source: NTNU_SB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Frontonasal dysplasia 3 (FND3)1 Publication
Organism-specific databases
DisGeNETi | 8092 |
MalaCardsi | ALX1 |
MIMi | 613456, phenotype |
OpenTargetsi | ENSG00000180318 |
Orphaneti | 306542, Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome |
PharmGKBi | PA162376294 |
Miscellaneous databases
Pharosi | Q15699, Tbio |
Genetic variation databases
BioMutai | ALX1 |
DMDMi | 90111820 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048855 | 1 – 326 | ALX homeobox protein 1Add BLAST | 326 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 12 | PhosphoserineCombined sources | 1 | |
Modified residuei | 69 | PhosphoserineCombined sources | 1 | |
Modified residuei | 131 | N6-acetyllysine; by EP300By similarity | 1 | |
Modified residuei | 306 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
jPOSTi | Q15699 |
MassIVEi | Q15699 |
PaxDbi | Q15699 |
PeptideAtlasi | Q15699 |
PRIDEi | Q15699 |
ProteomicsDBi | 60707 |
PTM databases
iPTMneti | Q15699 |
PhosphoSitePlusi | Q15699 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000180318, Expressed in kidney and 64 other tissues |
ExpressionAtlasi | Q15699, baseline and differential |
Genevisiblei | Q15699, HS |
Organism-specific databases
HPAi | ENSG00000180318, Tissue enhanced (epididymis, kidney) |
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 PublicationBinary interactionsi
Q15699
Protein-protein interaction databases
BioGRIDi | 113764, 17 interactors |
IntActi | Q15699, 16 interactors |
STRINGi | 9606.ENSP00000315417 |
Miscellaneous databases
RNActi | Q15699, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 192 – 326 | Transactivation domainBy similarityAdd BLAST | 135 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 306 – 319 | OARPROSITE-ProRule annotationAdd BLAST | 14 |
Domaini
Sequence similaritiesi
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0490, Eukaryota |
GeneTreei | ENSGT00940000158251 |
HOGENOMi | CLU_047013_0_1_1 |
InParanoidi | Q15699 |
OMAi | SSPCGDQ |
OrthoDBi | 738339at2759 |
PhylomeDBi | Q15699 |
TreeFami | TF350743 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR033209, ALX1 IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR003654, OAR_dom |
PANTHERi | PTHR24329:SF359, PTHR24329:SF359, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF03826, OAR, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS50803, OAR, 1 hit |
i Sequence
Sequence statusi: Complete.
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 125 | S → T in AAB08960 (PubMed:8756334).Curated | 1 |
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 |
CCDSi | CCDS9028.1 |
RefSeqi | NP_008913.2, NM_006982.2 |
Genome annotation databases
Ensembli | ENST00000316824.4; ENSP00000315417.3; ENSG00000180318.4 |
GeneIDi | 8092 |
KEGGi | hsa:8092 |
MANE-Selecti | ENST00000316824.4; ENSP00000315417.3; NM_006982.3; NP_008913.2 |
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 |
CCDSi | CCDS9028.1 |
RefSeqi | NP_008913.2, NM_006982.2 |
3D structure databases
AlphaFoldDBi | Q15699 |
SMRi | Q15699 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 113764, 17 interactors |
IntActi | Q15699, 16 interactors |
STRINGi | 9606.ENSP00000315417 |
PTM databases
iPTMneti | Q15699 |
PhosphoSitePlusi | Q15699 |
Genetic variation databases
BioMutai | ALX1 |
DMDMi | 90111820 |
Proteomic databases
jPOSTi | Q15699 |
MassIVEi | Q15699 |
PaxDbi | Q15699 |
PeptideAtlasi | Q15699 |
PRIDEi | Q15699 |
ProteomicsDBi | 60707 |
Protocols and materials databases
Antibodypediai | 891, 177 antibodies from 25 providers |
DNASUi | 8092 |
Genome annotation databases
Ensembli | ENST00000316824.4; ENSP00000315417.3; ENSG00000180318.4 |
GeneIDi | 8092 |
KEGGi | hsa:8092 |
MANE-Selecti | ENST00000316824.4; ENSP00000315417.3; NM_006982.3; NP_008913.2 |
Organism-specific databases
CTDi | 8092 |
DisGeNETi | 8092 |
GeneCardsi | ALX1 |
HGNCi | HGNC:1494, ALX1 |
HPAi | ENSG00000180318, Tissue enhanced (epididymis, kidney) |
MalaCardsi | ALX1 |
MIMi | 601527, gene 613456, phenotype |
neXtProti | NX_Q15699 |
OpenTargetsi | ENSG00000180318 |
Orphaneti | 306542, Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome |
PharmGKBi | PA162376294 |
VEuPathDBi | HostDB:ENSG00000180318 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0490, Eukaryota |
GeneTreei | ENSGT00940000158251 |
HOGENOMi | CLU_047013_0_1_1 |
InParanoidi | Q15699 |
OMAi | SSPCGDQ |
OrthoDBi | 738339at2759 |
PhylomeDBi | Q15699 |
TreeFami | TF350743 |
Enzyme and pathway databases
PathwayCommonsi | Q15699 |
SignaLinki | Q15699 |
Miscellaneous databases
BioGRID-ORCSi | 8092, 12 hits in 1092 CRISPR screens |
ChiTaRSi | ALX1, human |
GeneWikii | ALX1 |
GenomeRNAii | 8092 |
Pharosi | Q15699, Tbio |
PROi | PR:Q15699 |
RNActi | Q15699, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000180318, Expressed in kidney and 64 other tissues |
ExpressionAtlasi | Q15699, baseline and differential |
Genevisiblei | Q15699, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR033209, ALX1 IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR003654, OAR_dom |
PANTHERi | PTHR24329:SF359, PTHR24329:SF359, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF03826, OAR, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS50803, OAR, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ALX1_HUMAN | |
Accessioni | Q15699Primary (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: | May 25, 2022 | |
This is version 185 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries