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Protein

Homeobox protein aristaless-like 3

Gene

ALX3

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

Functioni

Transcriptional regulator with a possible role in patterning of mesoderm during development.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi153 – 212HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein aristaless-like 3
Alternative name(s):
Proline-rich transcription factor ALX3
Gene namesi
Name:ALX3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000156150.6
HGNCiHGNC:449 ALX3
MIMi606014 gene
neXtProtiNX_O95076

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Frontonasal dysplasia 1 (FND1)1 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:136760
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063226168L → V in FND1. 1 PublicationCorresponds to variant dbSNP:rs121908167EnsemblClinVar.1
Natural variantiVAR_063227183R → W in FND1. 1 PublicationCorresponds to variant dbSNP:rs121908168EnsemblClinVar.1
Natural variantiVAR_063228196R → W in FND1. 1 PublicationCorresponds to variant dbSNP:rs121908170EnsemblClinVar.1
Natural variantiVAR_063229203N → S in FND1. 1 PublicationCorresponds to variant dbSNP:rs121908166EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi257
MalaCardsiALX3
MIMi136760 phenotype
OpenTargetsiENSG00000156150
Orphaneti391474 Frontorhiny
PharmGKBiPA24754

Polymorphism and mutation databases

BioMutaiALX3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000488121 – 343Homeobox protein aristaless-like 3Add BLAST343

Proteomic databases

EPDiO95076
PaxDbiO95076
PeptideAtlasiO95076
PRIDEiO95076
ProteomicsDBi50646

PTM databases

iPTMnetiO95076
PhosphoSitePlusiO95076

Expressioni

Gene expression databases

BgeeiENSG00000156150 Expressed in 30 organ(s), highest expression level in adenohypophysis
CleanExiHS_ALX3
GenevisibleiO95076 HS

Interactioni

Protein-protein interaction databases

BioGridi106755, 19 interactors
STRINGi9606.ENSP00000358807

Structurei

3D structure databases

ProteinModelPortaliO95076
SMRiO95076
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00900000140809
HOGENOMiHOG000231518
HOVERGENiHBG004213
InParanoidiO95076
KOiK09323
OMAiSIHGFPP
OrthoDBiEOG091G0B1L
PhylomeDBiO95076
TreeFamiTF350743

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR033211 ALX3
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
PANTHERiPTHR24329:SF340 PTHR24329:SF340, 1 hit
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequencei

Sequence statusi: Complete.

O95076-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDPEHCAPFR VGPAPGPYVA SGDEPPGPQG TPAAAPHLHP APPRGPRLTR
60 70 80 90 100
FPACGPLEPY LPEPAKPPAK YLQDLGPGPA LNGGHFYEGP AEAEEKTSKA
110 120 130 140 150
ASFPQLPLDC RGGPRDGPSN LQGSPGPCLA SLHLPLSPGL PDSMELAKNK
160 170 180 190 200
SKKRRNRTTF STFQLEELEK VFQKTHYPDV YAREQLALRT DLTEARVQVW
210 220 230 240 250
FQNRRAKWRK RERYGKIQEG RNPFTAAYDI SVLPRTDSHP QLQNSLWASP
260 270 280 290 300
GSGSPGGPCL VSPEGIPSPC MSPYSHPHGS VAGFMGVPAP SAAHPGIYSI
310 320 330 340
HGFPPTLGGH SFEPSSDGDY KSPSLVSLRV KPKEPPGLLN WTT
Length:343
Mass (Da):36,935
Last modified:November 25, 2008 - v2
Checksum:i0BB20630D5CB817B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti72L → M in AAD01417 (PubMed:11807986).Curated1
Sequence conflicti86F → L in AAD01417 (PubMed:11807986).Curated1
Sequence conflicti249S → G in AAD01418 (PubMed:11807986).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063226168L → V in FND1. 1 PublicationCorresponds to variant dbSNP:rs121908167EnsemblClinVar.1
Natural variantiVAR_063227183R → W in FND1. 1 PublicationCorresponds to variant dbSNP:rs121908168EnsemblClinVar.1
Natural variantiVAR_063228196R → W in FND1. 1 PublicationCorresponds to variant dbSNP:rs121908170EnsemblClinVar.1
Natural variantiVAR_063229203N → S in FND1. 1 PublicationCorresponds to variant dbSNP:rs121908166EnsemblClinVar.1
Natural variantiVAR_047475234P → A. Corresponds to variant dbSNP:rs12749726Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF008202 Genomic DNA Translation: AAD01417.2
AF008203 mRNA Translation: AAD01418.1
AL160006 Genomic DNA No translation available.
CH471122 Genomic DNA Translation: EAW56430.1
BC112007 mRNA Translation: AAI12008.1
BC113428 mRNA Translation: AAI13429.1
CCDSiCCDS819.1
RefSeqiNP_006483.2, NM_006492.2
UniGeneiHs.669953

Genome annotation databases

EnsembliENST00000369792; ENSP00000358807; ENSG00000156150
GeneIDi257
KEGGihsa:257
UCSCiuc001dzb.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF008202 Genomic DNA Translation: AAD01417.2
AF008203 mRNA Translation: AAD01418.1
AL160006 Genomic DNA No translation available.
CH471122 Genomic DNA Translation: EAW56430.1
BC112007 mRNA Translation: AAI12008.1
BC113428 mRNA Translation: AAI13429.1
CCDSiCCDS819.1
RefSeqiNP_006483.2, NM_006492.2
UniGeneiHs.669953

3D structure databases

ProteinModelPortaliO95076
SMRiO95076
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106755, 19 interactors
STRINGi9606.ENSP00000358807

PTM databases

iPTMnetiO95076
PhosphoSitePlusiO95076

Polymorphism and mutation databases

BioMutaiALX3

Proteomic databases

EPDiO95076
PaxDbiO95076
PeptideAtlasiO95076
PRIDEiO95076
ProteomicsDBi50646

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369792; ENSP00000358807; ENSG00000156150
GeneIDi257
KEGGihsa:257
UCSCiuc001dzb.4 human

Organism-specific databases

CTDi257
DisGeNETi257
EuPathDBiHostDB:ENSG00000156150.6
GeneCardsiALX3
H-InvDBiHIX0023725
HIX0159682
HGNCiHGNC:449 ALX3
MalaCardsiALX3
MIMi136760 phenotype
606014 gene
neXtProtiNX_O95076
OpenTargetsiENSG00000156150
Orphaneti391474 Frontorhiny
PharmGKBiPA24754
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00900000140809
HOGENOMiHOG000231518
HOVERGENiHBG004213
InParanoidiO95076
KOiK09323
OMAiSIHGFPP
OrthoDBiEOG091G0B1L
PhylomeDBiO95076
TreeFamiTF350743

Miscellaneous databases

GenomeRNAii257
PROiPR:O95076
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156150 Expressed in 30 organ(s), highest expression level in adenohypophysis
CleanExiHS_ALX3
GenevisibleiO95076 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR033211 ALX3
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
PANTHERiPTHR24329:SF340 PTHR24329:SF340, 1 hit
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiALX3_HUMAN
AccessioniPrimary (citable) accession number: O95076
Secondary accession number(s): O95075, Q5T8M4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 151 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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