Reviewed, UniProtKB/Swiss-Prot Q15699 (ALX1_HUMAN)

Names and origin

Protein names

Recommended name:
    ALX homeobox protein 1
Alternative name(s):
    Cartilage homeoprotein 1
      Short name(s)=CART-1

Gene names

Name:	ALX1
Synonyms:	CART1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	326 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play a role in chondrocyte differentiation and may also influence cervix development. Functions as a repressor with the rat prolactin promoter in vivo.
Subcellular location	NucleusProbable.
Tissue specificity	Cartilage and cervix tissue.
Sequence similarities	Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain. Contains 1 OAR domain.

Ontologies

Keywords
Cellular component	Nucleus
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Gene Ontology (GO)
Biological process	brain development Traceable author statement. Source: ProtInc cartilage condensation Ref.1 Traceable author statement. Source: ProtInc negative regulation of transcription from RNA polymerase II promoter Ref.1 Inferred from direct assay. Source: MGI
Molecular function	transcription corepressor activity Ref.1 Traceable author statement. Source: ProtInc transcription factor activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
IPO13	O94829	1	EBI-750671,EBI-747310

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 326	326	ALX homeobox protein 1
Regions
	DNA binding	132 – 191	60	Homeobox
	Motif	306 – 319	14	OAR
Experimental info
	Sequence conflict	125	1	S → T in AAB08960. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q15699-1 [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: 8756334] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U31986 mRNA. Translation: AAB08960.1. AJ558236, AJ558237 Genomic DNA. Translation: CAD90155.1. BC010923 mRNA. Translation: AAH10923.1.
RefSeq	NP_008913.2.
UniGene	Hs.41683
3D structure databases
HSSP	HSSP built from PDB template 1FJL based on UniProtKB P06601.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q15699.
PTM databases
PhosphoSite	Q15699.
Genome annotation databases
Ensembl	ENSG00000180318. Homo sapiens. [Contig view]
GeneID	8092.
KEGG	hsa:8092.
Organism-specific databases
HGNC	HGNC:1494. ALX1.
HPA	HPA001598.
MIM	601527. gene.
PharmGKB	PA26080.
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOGENOM	Q15699.
HOVERGEN	Q15699.
Gene expression databases
ArrayExpress	Q15699.
CleanEx	HS_ALX1.
GermOnline	ENSG00000180318. Homo sapiens.
Family and domain databases
InterPro	IPR003654. Homeo_OAR. IPR001356. Homeobox. IPR012287. Homeodomain-rel. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
Pfam	PF00046. Homeobox. 1 hit. PF03826. OAR. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
ProDom	PD000010. Homeobox. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00389. HOX. 1 hit. [Graphical view]
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS50803. OAR. 1 hit. [Graphical view]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	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:	July 22, 2008
This is version 73 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)