Q15699 (ALX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ALX homeobox protein 1

Alternative name(s):
Cartilage homeoprotein 1
Short name=CART-1

Gene names

Name:	ALX1
Synonyms:	CART1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	326 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Activator Developmental protein Repressor
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterior/posterior pattern specification Inferred from electronic annotation. Source: Compara 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: Compara embryonic skeletal system morphogenesis Inferred from electronic annotation. Source: Compara mesenchymal cell development Inferred from electronic annotation. Source: Compara 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: Compara palate development Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara positive regulation of transcription, DNA-dependent Inferred from direct assay Ref.4. Source: UniProtKB transcription from RNA polymerase II promoter Traceable author statement Ref.1. Source: ProtInc
Cellular_component	nucleus Inferred from direct assay Ref.4. Source: UniProtKB transcription factor complex Inferred from electronic annotation. Source: Compara
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: Compara 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
IPO13	O94829	2	EBI-750671,EBI-747310

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 326	326	ALX homeobox protein 1		PRO_0000048855
Regions
	DNA binding	132 – 191	60	Homeobox
	Motif	306 – 319	14	OAR
Amino acid modifications
	Modified residue	131	1	N6-acetyllysine By similarity
Experimental info
	Sequence conflict	125	1	S → T in AAB08960. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q15699 [UniParc]. Last modified March 7, 2006. Version 2. Checksum: 9EB7374DE42E041B	FASTA	326	36,961
	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

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00018956.
RefSeq	NP_008913.2. NM_006982.2.
UniGene	Hs.41683.
3D structure databases
ProteinModelPortal	Q15699.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q15699. 1 interaction.
MINT	MINT-1465062.
STRING	9606.ENSP00000315417.
PTM databases
PhosphoSite	Q15699.
Polymorphism databases
DMDM	90111820.
Proteomic databases
PaxDb	Q15699.
PRIDE	Q15699.
Protocols and materials databases
DNASU	8092.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000316824; ENSP00000315417; ENSG00000180318.
GeneID	8092.
KEGG	hsa:8092.
UCSC	uc001tae.4. human.
Organism-specific databases
CTD	8092.
GeneCards	GC12P085674.
H-InvDB	HIX0018568.
HGNC	HGNC:1494. ALX1.
HPA	HPA001598. HPA018905.
MIM	601527. gene. 613456. phenotype.
neXtProt	NX_Q15699.
PharmGKB	PA162376294.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG304827.
HOGENOM	HOG000231518.
HOVERGEN	HBG050798.
InParanoid	Q15699.
KO	K09334.
OMA	QLAMRTE.
OrthoDB	EOG4G4GR5.
PhylomeDB	Q15699.
Gene expression databases
Bgee	Q15699.
CleanEx	HS_ALX1.
Genevestigator	Q15699.
GermOnline	ENSG00000180318. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR003654. OAR_dom. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. PF03826. OAR. 1 hit. [Graphical view]
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS50803. OAR. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	8092.
NextBio	30733.
SOURCE	Search...

Entry information

Entry name

ALX1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 120 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.