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Protein

Homeobox protein aristaless-like 3

Gene

ALX3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156150-MONOMER.

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

HGNCiHGNC:449. ALX3.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

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 rs121908167dbSNPEnsembl.1
Natural variantiVAR_063227183R → W in FND1. 1 PublicationCorresponds to variant rs121908168dbSNPEnsembl.1
Natural variantiVAR_063228196R → W in FND1. 1 PublicationCorresponds to variant rs121908170dbSNPEnsembl.1
Natural variantiVAR_063229203N → S in FND1. 1 PublicationCorresponds to variant rs121908166dbSNPEnsembl.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

PaxDbiO95076.
PeptideAtlasiO95076.
PRIDEiO95076.

PTM databases

iPTMnetiO95076.
PhosphoSitePlusiO95076.

Expressioni

Gene expression databases

BgeeiENSG00000156150.
CleanExiHS_ALX3.
GenevisibleiO95076. HS.

Organism-specific databases

HPAiCAB032876.

Interactioni

Protein-protein interaction databases

BioGridi106755. 16 interactors.
STRINGi9606.ENSP00000358807.

Structurei

3D structure databases

ProteinModelPortaliO95076.
SMRiO95076.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG004213.
InParanoidiO95076.
KOiK09323.
OMAiSIHGFPP.
OrthoDBiEOG091G0B1L.
PhylomeDBiO95076.
TreeFamiTF350743.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR033211. ALX3.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PANTHERiPTHR24329:SF340. PTHR24329:SF340. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

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 rs121908167dbSNPEnsembl.1
Natural variantiVAR_063227183R → W in FND1. 1 PublicationCorresponds to variant rs121908168dbSNPEnsembl.1
Natural variantiVAR_063228196R → W in FND1. 1 PublicationCorresponds to variant rs121908170dbSNPEnsembl.1
Natural variantiVAR_063229203N → S in FND1. 1 PublicationCorresponds to variant rs121908166dbSNPEnsembl.1
Natural variantiVAR_047475234P → A.Corresponds to variant rs12749726dbSNPEnsembl.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. Translation: CAI22714.1.
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

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. Translation: CAI22714.1.
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. 16 interactors.
STRINGi9606.ENSP00000358807.

PTM databases

iPTMnetiO95076.
PhosphoSitePlusiO95076.

Polymorphism and mutation databases

BioMutaiALX3.

Proteomic databases

PaxDbiO95076.
PeptideAtlasiO95076.
PRIDEiO95076.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi257.
DisGeNETi257.
GeneCardsiALX3.
H-InvDBHIX0023725.
HIX0159682.
HGNCiHGNC:449. ALX3.
HPAiCAB032876.
MalaCardsiALX3.
MIMi136760. phenotype.
606014. gene.
neXtProtiNX_O95076.
OpenTargetsiENSG00000156150.
Orphaneti391474. Frontorhiny.
PharmGKBiPA24754.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG004213.
InParanoidiO95076.
KOiK09323.
OMAiSIHGFPP.
OrthoDBiEOG091G0B1L.
PhylomeDBiO95076.
TreeFamiTF350743.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156150-MONOMER.

Miscellaneous databases

GenomeRNAii257.
PROiO95076.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156150.
CleanExiHS_ALX3.
GenevisibleiO95076. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR033211. ALX3.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PANTHERiPTHR24329:SF340. PTHR24329:SF340. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiALX3_HUMAN
AccessioniPrimary (citable) accession number: O95076
Secondary accession number(s): O95075, Q5T8M4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 25, 2008
Last modified: November 2, 2016
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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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 one 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.