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Q15699

- ALX1_HUMAN

UniProt

Q15699 - ALX1_HUMAN

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Protein

ALX homeobox protein 1

Gene
ALX1, CART1
Organism
Homo sapiens (Human)
Status
Reviewed - 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 – 19160HomeoboxAdd
BLAST

GO - Molecular functioni

  1. protein binding Source: IntAct
  2. sequence-specific DNA binding Source: Ensembl
  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: Ensembl
  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 Publication

GO - Cellular componenti

  1. nucleus Source: UniProtKB
  2. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

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-acetyllysine By 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.
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.

Family & Domainsi

Motif

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

Sequence similaritiesi

Belongs to the paired homeobox family.

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

MEFLSEKFAL KSPPSKNSDF YMGAGGPLEH VMETLDNESF YSKASAGKCV    50
QAFGPLPRAE HHVRLERTSP CQDSSVNYGI TKVEGQPLHT ELNRAMDNCN 100
SLRMSPVKGM QEKGELDELG DKCDSNVSSS KKRRHRTTFT SLQLEELEKV 150
FQKTHYPDVY VREQLALRTE LTEARVQVWF QNRRAKWRKR ERYGQIQQAK 200
SHFAATYDIS VLPRTDSYPQ IQNNLWAGNA SGGSVVTSCM LPRDTSSCMT 250
PYSHSPRTDS SYTGFSNHQN QFSHVPLNNF FTDSLLTGAT NGHAFETKPE 300
FERRSSSIAV LRMKAKEHTA NISWAM 326
Length:326
Mass (Da):36,961
Last modified:March 7, 2006 - v2
Checksum:i9EB7374DE42E041B
GO

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti125 – 1251S → T in AAB08960. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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.
XP_005269222.1. XM_005269165.2.
UniGenei Hs.41683.

3D structure databases

ProteinModelPortali Q15699.
SMRi Q15699. Positions 128-198.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113764. 2 interactions.
IntActi Q15699. 1 interaction.
MINTi MINT-1465062.
STRINGi 9606.ENSP00000315417.

PTM databases

PhosphoSitei Q15699.

Polymorphism databases

DMDMi 90111820.

Proteomic databases

MaxQBi Q15699.
PaxDbi Q15699.
PRIDEi Q15699.

Protocols and materials databases

DNASUi 8092.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000316824 ; ENSP00000315417 ; ENSG00000180318 .
GeneIDi 8092.
KEGGi hsa:8092.
UCSCi uc001tae.4. human.

Organism-specific databases

CTDi 8092.
GeneCardsi GC12P085674.
H-InvDB HIX0018568.
HGNCi HGNC:1494. ALX1.
HPAi HPA001598.
HPA018905.
MIMi 601527. gene.
613456. phenotype.
neXtProti NX_Q15699.
Orphaneti 306542. Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome.
PharmGKBi PA162376294.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG304827.
HOGENOMi HOG000231518.
HOVERGENi HBG050798.
InParanoidi Q15699.
KOi K09334.
OMAi QLAMRTE.
OrthoDBi EOG7C2R1F.
PhylomeDBi Q15699.
TreeFami TF350743.

Miscellaneous databases

GeneWikii ALX1.
GenomeRNAii 8092.
NextBioi 30733.
PROi Q15699.
SOURCEi Search...

Gene expression databases

Bgeei Q15699.
CleanExi HS_ALX1.
Genevestigatori Q15699.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 131 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

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