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Q15699 (ALX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ALX homeobox protein 1
Alternative name(s):
Cartilage homeoprotein 1
Short name=CART-1
Gene names
Name:ALX1
Synonyms:CART1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length326 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in chondrocyte differentiation and may also influence cervix development. Ref.4

Subunit structure

Interacts (via homeobox domain) with EP300 By similarity.

Subcellular location

Nucleus Ref.4.

Tissue specificity

Cartilage and cervix tissue.

Post-translational modification

Acetylated at Lys-131 by EP300, leading to increased interaction with EP300 and enhances transcriptional activation activity By similarity.

Involvement in disease

Frontonasal dysplasia 3 (FND3) [MIM:613456]: The 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the paired homeobox family.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   DomainHomeobox
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
Repressor
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanterior/posterior pattern specification

Inferred from electronic annotation. Source: Ensembl

brain development

Traceable author statement PubMed 8673125. Source: ProtInc

cartilage condensation

Traceable author statement Ref.1. Source: ProtInc

embryonic limb morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic skeletal system morphogenesis

Inferred from electronic annotation. Source: Ensembl

mesenchymal cell development

Inferred from electronic annotation. Source: Ensembl

multicellular organismal development

Traceable author statement Ref.1. Source: ProtInc

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay Ref.1. Source: MGI

neural tube closure

Inferred from electronic annotation. Source: Ensembl

palate development

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription, DNA-templated

Inferred from direct assay Ref.4. Source: UniProtKB

transcription from RNA polymerase II promoter

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentnucleus

Inferred from direct assay Ref.4. Source: UniProtKB

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionsequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding transcription factor activity

Traceable author statement Ref.1. Source: ProtInc

transcription corepressor activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

IPO13O948292EBI-750671,EBI-747310

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 326326ALX homeobox protein 1
PRO_0000048855

Regions

DNA binding132 – 19160Homeobox
Motif306 – 31914OAR

Amino acid modifications

Modified residue1311N6-acetyllysine By similarity

Experimental info

Sequence conflict1251S → T in AAB08960. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q15699 [UniParc].

Last modified March 7, 2006. Version 2.
Checksum: 9EB7374DE42E041B

FASTA32636,961
        10         20         30         40         50         60 
MEFLSEKFAL KSPPSKNSDF YMGAGGPLEH VMETLDNESF YSKASAGKCV QAFGPLPRAE 

        70         80         90        100        110        120 
HHVRLERTSP CQDSSVNYGI TKVEGQPLHT ELNRAMDNCN SLRMSPVKGM QEKGELDELG 

       130        140        150        160        170        180 
DKCDSNVSSS KKRRHRTTFT SLQLEELEKV FQKTHYPDVY VREQLALRTE LTEARVQVWF 

       190        200        210        220        230        240 
QNRRAKWRKR ERYGQIQQAK SHFAATYDIS VLPRTDSYPQ IQNNLWAGNA SGGSVVTSCM 

       250        260        270        280        290        300 
LPRDTSSCMT PYSHSPRTDS SYTGFSNHQN QFSHVPLNNF FTDSLLTGAT NGHAFETKPE 

       310        320 
FERRSSSIAV LRMKAKEHTA NISWAM 

« Hide

References

« Hide 'large scale' references
[1]"Human Cart-1: structural organization, chromosomal localization, and functional analysis of a cartilage-specific homeodomain cDNA."
Gordon D.F., Wagner J., Atkinson B.L., Chiono M., Berry R., Sikela J., Gutierrez-Hartmann A.
DNA Cell Biol. 15:531-541(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"SNPs of transcription factor CART1 in cases with neural tube defects."
Felder B., Stegmann K., Ermert A., Koch M.C.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[4]"Human CART1, a paired-class homeodomain protein, activates transcription through palindromic binding sites."
Cai R.L.
Biochem. Biophys. Res. Commun. 250:305-311(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[5]"Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia."
Uz E., Alanay Y., Aktas D., Vargel I., Gucer S., Tuncbilek G., von Eggeling F., Yilmaz E., Deren O., Posorski N., Ozdag H., Liehr T., Balci S., Alikasifoglu M., Wollnik B., Akarsu N.A.
Am. J. Hum. Genet. 86:789-796(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN FND3.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U31986 mRNA. Translation: AAB08960.1.
AJ558236, AJ558237 Genomic DNA. Translation: CAD90155.1.
BC010923 mRNA. Translation: AAH10923.1.
RefSeqNP_008913.2. NM_006982.2.
XP_005269222.1. XM_005269165.2.
UniGeneHs.41683.

3D structure databases

ProteinModelPortalQ15699.
SMRQ15699. Positions 128-198.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113764. 2 interactions.
IntActQ15699. 1 interaction.
MINTMINT-1465062.
STRING9606.ENSP00000315417.

PTM databases

PhosphoSiteQ15699.

Polymorphism databases

DMDM90111820.

Proteomic databases

PaxDbQ15699.
PRIDEQ15699.

Protocols and materials databases

DNASU8092.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316824; ENSP00000315417; ENSG00000180318.
GeneID8092.
KEGGhsa:8092.
UCSCuc001tae.4. human.

Organism-specific databases

CTD8092.
GeneCardsGC12P085674.
H-InvDBHIX0018568.
HGNCHGNC:1494. ALX1.
HPAHPA001598.
HPA018905.
MIM601527. gene.
613456. phenotype.
neXtProtNX_Q15699.
Orphanet306542. Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome.
PharmGKBPA162376294.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG304827.
HOGENOMHOG000231518.
HOVERGENHBG050798.
InParanoidQ15699.
KOK09334.
OMAQLAMRTE.
OrthoDBEOG7C2R1F.
PhylomeDBQ15699.
TreeFamTF350743.

Gene expression databases

BgeeQ15699.
CleanExHS_ALX1.
GenevestigatorQ15699.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiALX1.
GenomeRNAi8092.
NextBio30733.
PROQ15699.
SOURCESearch...

Entry information

Entry nameALX1_HUMAN
AccessionPrimary (citable) accession number: Q15699
Secondary accession number(s): Q546C8, Q96FH4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: March 7, 2006
Last modified: April 16, 2014
This is version 128 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant 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