O95076 (ALX3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein aristaless-like 3

Alternative name(s):
Proline-rich transcription factor ALX3

Gene names

Name:

ALX3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	343 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	embryonic forelimb morphogenesis Inferred from electronic annotation. Source: Compara embryonic hindlimb morphogenesis Inferred from electronic annotation. Source: Compara embryonic skeletal system morphogenesis Inferred from electronic annotation. Source: Compara pattern specification process Inferred from electronic annotation. Source: Compara regulation of apoptotic process Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 343	343	Homeobox protein aristaless-like 3		PRO_0000048812
Regions
	DNA binding	153 – 212	60	Homeobox
Natural variations
	Natural variant	168	1	L → V in FND1. Ref.5		VAR_063226
	Natural variant	183	1	R → W in FND1. Ref.5		VAR_063227
	Natural variant	196	1	R → W in FND1. Ref.5		VAR_063228
	Natural variant	203	1	N → S in FND1. Ref.5		VAR_063229
	Natural variant	234	1	P → A. Corresponds to variant rs12749726 [ dbSNP | Ensembl ].		VAR_047475
Experimental info
	Sequence conflict	72	1	L → M in AAD01417. Ref.1
	Sequence conflict	86	1	F → L in AAD01417. Ref.1
	Sequence conflict	249	1	S → G in AAD01418. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	O95076 [UniParc]. Last modified November 25, 2008. Version 2. Checksum: 0BB20630D5CB817B	FASTA	343	36,935
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00028290.
RefSeq	NP_006483.2. NM_006492.2.
UniGene	Hs.669953.
3D structure databases
ProteinModelPortal	O95076.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000358807.
PTM databases
PhosphoSite	O95076.
Proteomic databases
PaxDb	O95076.
PRIDE	O95076.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000369792; ENSP00000358807; ENSG00000156150.
GeneID	257.
KEGG	hsa:257.
UCSC	uc001dzb.3. human.
Organism-specific databases
CTD	257.
GeneCards	GC01M110602.
H-InvDB	HIX0023725. HIX0159682.
HGNC	HGNC:449. ALX3.
MIM	136760. phenotype. 606014. gene.
neXtProt	NX_O95076.
Orphanet	250. Frontonasal dysplasia.
PharmGKB	PA24754.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG292934.
HOGENOM	HOG000231518.
HOVERGEN	HBG004213.
InParanoid	O95076.
KO	K09323.
OMA	PYSHPHG.
OrthoDB	EOG40K810.
PhylomeDB	O95076.
Gene expression databases
Bgee	O95076.
CleanEx	HS_ALX3.
Genevestigator	O95076.
GermOnline	ENSG00000156150. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	257.
NextBio	1013.
SOURCE	Search...

Entry information

Entry name

ALX3_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 109 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.