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Protein

ALX homeobox protein 1

Gene

ALX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi132 – 19160HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  2. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB
  3. sequence-specific DNA binding transcription factor activity Source: ProtInc
  4. transcription corepressor activity Source: ProtInc

GO - Biological processi

  1. anterior/posterior pattern specification Source: Ensembl
  2. brain development Source: ProtInc
  3. cartilage condensation Source: ProtInc
  4. embryonic limb morphogenesis Source: Ensembl
  5. embryonic skeletal system morphogenesis Source: Ensembl
  6. mesenchymal cell development Source: Ensembl
  7. multicellular organismal development Source: ProtInc
  8. negative regulation of transcription from RNA polymerase II promoter Source: MGI
  9. neural tube closure Source: Ensembl
  10. palate development Source: Ensembl
  11. positive regulation of transcription, DNA-templated Source: UniProtKB
  12. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  13. transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
ALX homeobox protein 1
Alternative name(s):
Cartilage homeoprotein 1
Short name:
CART-1
Gene namesi
Name:ALX1
Synonyms:CART1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:1494. ALX1.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. Golgi apparatus Source: HPA
  2. nucleoplasm Source: HPA
  3. nucleus Source: UniProtKB
  4. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Frontonasal dysplasia 31 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.

See also OMIM:613456

Organism-specific databases

MIMi613456. phenotype.
Orphaneti306542. Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome.
PharmGKBiPA162376294.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 326326ALX homeobox protein 1PRO_0000048855Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei131 – 1311N6-acetyllysineBy similarity

Post-translational modificationi

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

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ15699.
PaxDbiQ15699.
PRIDEiQ15699.

PTM databases

PhosphoSiteiQ15699.

Expressioni

Tissue specificityi

Cartilage and cervix tissue.

Gene expression databases

BgeeiQ15699.
CleanExiHS_ALX1.
ExpressionAtlasiQ15699. baseline and differential.
GenevestigatoriQ15699.

Organism-specific databases

HPAiHPA001598.
HPA018905.

Interactioni

Subunit structurei

Interacts (via homeobox domain) with EP300.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
IPO13O948292EBI-750671,EBI-747310

Protein-protein interaction databases

BioGridi113764. 2 interactions.
IntActiQ15699. 1 interaction.
MINTiMINT-1465062.
STRINGi9606.ENSP00000315417.

Structurei

3D structure databases

ProteinModelPortaliQ15699.
SMRiQ15699. Positions 128-198.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi306 – 31914OARAdd
BLAST

Sequence similaritiesi

Belongs to the paired homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG304827.
HOGENOMiHOG000231518.
HOVERGENiHBG050798.
InParanoidiQ15699.
KOiK09334.
OMAiQLAMRTE.
OrthoDBiEOG7C2R1F.
PhylomeDBiQ15699.
TreeFamiTF350743.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q15699-1 [UniParc]FASTAAdd 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti125 – 1251S → T in AAB08960 (PubMed:8756334).Curated

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.
CCDSiCCDS9028.1.
RefSeqiNP_008913.2. NM_006982.2.
XP_005269222.1. XM_005269165.2.
UniGeneiHs.41683.

Genome annotation databases

EnsembliENST00000316824; ENSP00000315417; ENSG00000180318.
GeneIDi8092.
KEGGihsa:8092.
UCSCiuc001tae.4. human.

Polymorphism databases

DMDMi90111820.

Cross-referencesi

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.
CCDSiCCDS9028.1.
RefSeqiNP_008913.2. NM_006982.2.
XP_005269222.1. XM_005269165.2.
UniGeneiHs.41683.

3D structure databases

ProteinModelPortaliQ15699.
SMRiQ15699. Positions 128-198.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113764. 2 interactions.
IntActiQ15699. 1 interaction.
MINTiMINT-1465062.
STRINGi9606.ENSP00000315417.

PTM databases

PhosphoSiteiQ15699.

Polymorphism databases

DMDMi90111820.

Proteomic databases

MaxQBiQ15699.
PaxDbiQ15699.
PRIDEiQ15699.

Protocols and materials databases

DNASUi8092.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316824; ENSP00000315417; ENSG00000180318.
GeneIDi8092.
KEGGihsa:8092.
UCSCiuc001tae.4. human.

Organism-specific databases

CTDi8092.
GeneCardsiGC12P085674.
H-InvDBHIX0018568.
HGNCiHGNC:1494. ALX1.
HPAiHPA001598.
HPA018905.
MIMi601527. gene.
613456. phenotype.
neXtProtiNX_Q15699.
Orphaneti306542. Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome.
PharmGKBiPA162376294.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG304827.
HOGENOMiHOG000231518.
HOVERGENiHBG050798.
InParanoidiQ15699.
KOiK09334.
OMAiQLAMRTE.
OrthoDBiEOG7C2R1F.
PhylomeDBiQ15699.
TreeFamiTF350743.

Miscellaneous databases

GeneWikiiALX1.
GenomeRNAii8092.
NextBioi30733.
PROiQ15699.
SOURCEiSearch...

Gene expression databases

BgeeiQ15699.
CleanExiHS_ALX1.
ExpressionAtlasiQ15699. baseline and differential.
GenevestigatoriQ15699.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiALX1_HUMAN
AccessioniPrimary (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: March 4, 2015
This is version 136 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.