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O95076 (ALX3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein aristaless-like 3
Alternative name(s):
Proline-rich transcription factor ALX3
Gene names
Name:ALX3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length343 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Nucleus By similarity.

Involvement in disease

Frontonasal dysplasia 1 (FND1) [MIM:136760]: 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. Ref.5

Sequence similarities

Belongs to the paired homeobox family.

Contains 1 homeobox DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 343343Homeobox protein aristaless-like 3
PRO_0000048812

Regions

DNA binding153 – 21260Homeobox

Natural variations

Natural variant1681L → V in FND1. Ref.5
VAR_063226
Natural variant1831R → W in FND1. Ref.5
VAR_063227
Natural variant1961R → W in FND1. Ref.5
Corresponds to variant rs121908170 [ dbSNP | Ensembl ].
VAR_063228
Natural variant2031N → S in FND1. Ref.5
VAR_063229
Natural variant2341P → A.
Corresponds to variant rs12749726 [ dbSNP | Ensembl ].
VAR_047475

Experimental info

Sequence conflict721L → M in AAD01417. Ref.1
Sequence conflict861F → L in AAD01417. Ref.1
Sequence conflict2491S → G in AAD01418. Ref.1

Sequences

Sequence LengthMass (Da)Tools
O95076 [UniParc].

Last modified November 25, 2008. Version 2.
Checksum: 0BB20630D5CB817B

FASTA34336,935
        10         20         30         40         50         60 
MDPEHCAPFR VGPAPGPYVA SGDEPPGPQG TPAAAPHLHP APPRGPRLTR FPACGPLEPY 

        70         80         90        100        110        120 
LPEPAKPPAK YLQDLGPGPA LNGGHFYEGP AEAEEKTSKA ASFPQLPLDC RGGPRDGPSN 

       130        140        150        160        170        180 
LQGSPGPCLA SLHLPLSPGL PDSMELAKNK SKKRRNRTTF STFQLEELEK VFQKTHYPDV 

       190        200        210        220        230        240 
YAREQLALRT DLTEARVQVW FQNRRAKWRK RERYGKIQEG RNPFTAAYDI SVLPRTDSHP 

       250        260        270        280        290        300 
QLQNSLWASP GSGSPGGPCL VSPEGIPSPC MSPYSHPHGS VAGFMGVPAP SAAHPGIYSI 

       310        320        330        340 
HGFPPTLGGH SFEPSSDGDY KSPSLVSLRV KPKEPPGLLN WTT 

« Hide

References

« Hide 'large scale' references
[1]"Combined restriction landmark genomic scanning and virtual genome scans identify a novel human homeobox gene, ALX3, that is hypermethylated in neuroblastoma."
Wimmer K., Zhu X.-X., Rouillard J.-M., Ambros P.F., Lamb B.J., Kuick R., Eckart M., Weinhausl A., Fonatsch C., Hanash S.M.
Genes Chromosomes Cancer 33:285-294(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-92.
Tissue: Neuroblastoma.
[2]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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.
[5]"Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene."
Twigg S.R.F., Versnel S.L., Nuernberg G., Lees M.M., Bhat M., Hammond P., Hennekam R.C.M., Hoogeboom A.J., Hurst J.A., Johnson D., Robinson A.A., Scambler P.J., Gerrelli D., Nuernberg P., Mathijssen I.M.J., Wilkie A.O.M.
Am. J. Hum. Genet. 84:698-705(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FND1 VAL-168; TRP-183; TRP-196 AND SER-203.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS819.1.
RefSeqNP_006483.2. NM_006492.2.
UniGeneHs.669953.

3D structure databases

ProteinModelPortalO95076.
SMRO95076. Positions 149-219.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000358807.

PTM databases

PhosphoSiteO95076.

Proteomic databases

PaxDbO95076.
PRIDEO95076.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369792; ENSP00000358807; ENSG00000156150.
GeneID257.
KEGGhsa:257.
UCSCuc001dzb.3. human.

Organism-specific databases

CTD257.
GeneCardsGC01M110602.
H-InvDBHIX0023725.
HIX0159682.
HGNCHGNC:449. ALX3.
MIM136760. phenotype.
606014. gene.
neXtProtNX_O95076.
Orphanet391474. Frontorhiny.
PharmGKBPA24754.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG292934.
HOGENOMHOG000231518.
HOVERGENHBG004213.
InParanoidO95076.
KOK09323.
OMAPYSHPHG.
OrthoDBEOG7DRJ35.
PhylomeDBO95076.
TreeFamTF350743.

Gene expression databases

BgeeO95076.
CleanExHS_ALX3.
GenevestigatorO95076.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi257.
NextBio1013.
PROO95076.
SOURCESearch...

Entry information

Entry nameALX3_HUMAN
AccessionPrimary (citable) accession number: O95076
Secondary accession number(s): O95075, Q5T8M4
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 25, 2008
Last modified: July 9, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM