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 Publications

Regions

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
Inferred from direct assayⁱ
- 9753625
DNA-binding transcription factor activity
Source: ProtInc
Traceable author statementⁱ
- 8756334
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
protein heterodimerization activity Source: Ensembl
protein homodimerization activity Source: Ensembl
RNA polymerase II regulatory region sequence-specific DNA binding
Source: NTNU_SB
Inferred from direct assayⁱ
- 9753625
transcription corepressor activity
Source: ProtInc
Traceable author statementⁱ
- 8756334

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

anterior/posterior pattern specification Source: Ensembl
cartilage condensation
Source: ProtInc
Traceable author statementⁱ
- 8756334
embryonic limb morphogenesis Source: Ensembl
embryonic skeletal system morphogenesis Source: Ensembl
multicellular organism development
Source: ProtInc
Traceable author statementⁱ
- 8756334
negative regulation of transcription by RNA polymerase II
Source: MGI
Inferred from direct assayⁱ
- 8756334
neural crest cell migration Source: InterPro
neural tube closure Source: Ensembl
positive regulation of epithelial to mesenchymal transition
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 23288509
positive regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from direct assayⁱ
- 9753625
positive regulation of transcription by RNA polymerase II
Source: NTNU_SB
Inferred from direct assayⁱ
- 9753625
roof of mouth development Source: Ensembl
transcription by RNA polymerase II
Source: ProtInc
Traceable author statementⁱ
- 8756334

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, Developmental protein, DNA-binding, Repressor
Biological process	Transcription, 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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 12

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000180318.3
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:1494 ALX1
MIMⁱ	601527 gene
neXtProtⁱ	NX_Q15699

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.

Organism-specific databases

DisGeNET More...DisGeNETⁱ	8092
MalaCards human disease database More...MalaCardsⁱ	ALX1
MIMⁱ	613456 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000180318
Orphanetⁱ	306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
PharmGKBⁱ	PA162376294

Polymorphism and mutation 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	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

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

Keywords - PTMⁱ

Acetylation, Phosphoprotein

Proteomic databases

EPDⁱ	Q15699
PaxDbⁱ	Q15699
PeptideAtlas More...PeptideAtlasⁱ	Q15699
PRIDEⁱ	Q15699
ProteomicsDBⁱ	60707

PTM databases

iPTMnetⁱ	Q15699
PhosphoSitePlusⁱ	Q15699

Expressionⁱ

Tissue specificityⁱ

Cartilage and cervix tissue.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000180318 Expressed in 52 organ(s), highest expression level in kidney
CleanExⁱ	HS_ALX1
ExpressionAtlasⁱ	Q15699 baseline and differential
Genevisibleⁱ	Q15699 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA001598 HPA018905

HPAⁱ

HPA001598
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

With	Entry	#Exp.	IntAct	Notes
IPO13	O94829	2	EBI-750671,EBI-747310

With

Entry

#Exp.

IntAct

Notes

IPO13

O94829

2

EBI-750671,EBI-747310

GO - Molecular functionⁱ

protein heterodimerization activity Source: Ensembl
protein homodimerization activity Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	113764, 2 interactors
IntActⁱ	Q15699, 13 interactors
STRINGⁱ	9606.ENSP00000315417

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q15699
SMRⁱ	Q15699
ModBaseⁱ	Search...
MobiDBⁱ	Search...

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

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

eggNOGⁱ	KOG0490 Eukaryota ENOG410YIJ3 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00900000140809
HOGENOMⁱ	HOG000231518
HOVERGENⁱ	HBG050798
InParanoidⁱ	Q15699
KEGG Orthology (KO) More...KOⁱ	K09334
OMAⁱ	SSCMLPR
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0B1L
PhylomeDBⁱ	Q15699
TreeFamⁱ	TF350743

Family and domain databases

Conserved Domains Database More...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
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00046 Homeobox, 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

Sequenceⁱ

Sequence statusⁱ: Complete.

Q15699-1 [UniParc]FASTA Add 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 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS9028.1
NCBI Reference Sequences More...RefSeqⁱ	NP_008913.2, NM_006982.2
UniGeneⁱ	Hs.41683

Genome annotation databases

Ensemblⁱ	ENST00000316824; ENSP00000315417; ENSG00000180318
GeneIDⁱ	8092
KEGGⁱ	hsa:8092

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q15699	Cartilage paired-class homeoprotein 1		HUMAN		326	UniRef100_Q15699
ALX homeobox 1		PANTR		326
Uncharacterized protein		PANPA		326
ALX homeobox 1		GORGO		326

Protein	Similar proteins		Species	Score	Length	Source
Q15699	ALX homeobox protein 1		GEOFO		328	UniRef90_Q15699
ALX homeobox protein 1		MOUSE		326
ALX homeobox protein 1		RAT		326
Cartilage paired-class homeoprotein 1		HUMAN		326
ALX homeobox 1		PANTR		326
+170

Protein	Similar proteins		Species	Score	Length	Source
Q15699	ALX homeobox protein 1		GEOFO		328	UniRef50_Q15699
ALX homeobox protein 1		MOUSE		326
ALX homeobox protein 1		RAT		326
ALX homeobox protein 1		DANRE		320
ALX homeobox protein 1		XENLA		335
+312

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
UniGeneⁱ	Hs.41683

3D structure databases

ProteinModelPortalⁱ	Q15699
SMRⁱ	Q15699
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	113764, 2 interactors
IntActⁱ	Q15699, 13 interactors
STRINGⁱ	9606.ENSP00000315417

PTM databases

iPTMnetⁱ	Q15699
PhosphoSitePlusⁱ	Q15699

Polymorphism and mutation databases

BioMutaⁱ	ALX1
DMDMⁱ	90111820

Proteomic databases

EPDⁱ	Q15699
PaxDbⁱ	Q15699
PeptideAtlasⁱ	Q15699
PRIDEⁱ	Q15699
ProteomicsDBⁱ	60707

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	8092
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000316824; ENSP00000315417; ENSG00000180318
GeneIDⁱ	8092
KEGGⁱ	hsa:8092

Organism-specific databases

CTDⁱ	8092
DisGeNETⁱ	8092
EuPathDBⁱ	HostDB:ENSG00000180318.3
GeneCardsⁱ	ALX1
H-InvDBⁱ	HIX0018568
HGNCⁱ	HGNC:1494 ALX1
HPAⁱ	HPA001598 HPA018905
MalaCardsⁱ	ALX1
MIMⁱ	601527 gene 613456 phenotype
neXtProtⁱ	NX_Q15699
OpenTargetsⁱ	ENSG00000180318
Orphanetⁱ	306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
PharmGKBⁱ	PA162376294
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0490 Eukaryota ENOG410YIJ3 LUCA
GeneTreeⁱ	ENSGT00900000140809
HOGENOMⁱ	HOG000231518
HOVERGENⁱ	HBG050798
InParanoidⁱ	Q15699
KOⁱ	K09334
OMAⁱ	SSCMLPR
OrthoDBⁱ	EOG091G0B1L
PhylomeDBⁱ	Q15699
TreeFamⁱ	TF350743

Miscellaneous databases

GeneWikiⁱ	ALX1
GenomeRNAiⁱ	8092
Protein Ontology More...PROⁱ	PR:Q15699
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000180318 Expressed in 52 organ(s), highest expression level in kidney
CleanExⁱ	HS_ALX1
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 Homeobox, 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
ProtoNetⁱ	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:	November 7, 2018
	This is version 164 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM
Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q15699 (ALX1_HUMAN)

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ALX homeobox protein 1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Golgi apparatus

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Motif

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ