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O95076

- ALX3_HUMAN

UniProt

O95076 - ALX3_HUMAN

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Protein

Homeobox protein aristaless-like 3

Gene

ALX3

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi153 – 21260HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. embryonic forelimb morphogenesis Source: Ensembl
  2. embryonic hindlimb morphogenesis Source: Ensembl
  3. embryonic skeletal system morphogenesis Source: Ensembl
  4. pattern specification process Source: Ensembl
  5. regulation of apoptotic process Source: Ensembl
  6. regulation of transcription, DNA-templated Source: UniProtKB-KW
  7. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:449. ALX3.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti168 – 1681L → V in FND1. 1 Publication
VAR_063226
Natural varianti183 – 1831R → W in FND1. 1 Publication
VAR_063227
Natural varianti196 – 1961R → W in FND1. 1 Publication
Corresponds to variant rs121908170 [ dbSNP | Ensembl ].
VAR_063228
Natural varianti203 – 2031N → S in FND1. 1 Publication
VAR_063229

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi136760. phenotype.
Orphaneti391474. Frontorhiny.
PharmGKBiPA24754.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 343343Homeobox protein aristaless-like 3PRO_0000048812Add
BLAST

Proteomic databases

PaxDbiO95076.
PRIDEiO95076.

PTM databases

PhosphoSiteiO95076.

Expressioni

Gene expression databases

BgeeiO95076.
CleanExiHS_ALX3.
GenevestigatoriO95076.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000358807.

Structurei

3D structure databases

ProteinModelPortaliO95076.
SMRiO95076. Positions 149-219.
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

eggNOGiNOG292934.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG004213.
InParanoidiO95076.
KOiK09323.
OMAiPYSHPHG.
OrthoDBiEOG7DRJ35.
PhylomeDBiO95076.
TreeFamiTF350743.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti72 – 721L → M in AAD01417. (PubMed:11807986)Curated
Sequence conflicti86 – 861F → L in AAD01417. (PubMed:11807986)Curated
Sequence conflicti249 – 2491S → G in AAD01418. (PubMed:11807986)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti168 – 1681L → V in FND1. 1 Publication
VAR_063226
Natural varianti183 – 1831R → W in FND1. 1 Publication
VAR_063227
Natural varianti196 – 1961R → W in FND1. 1 Publication
Corresponds to variant rs121908170 [ dbSNP | Ensembl ].
VAR_063228
Natural varianti203 – 2031N → S in FND1. 1 Publication
VAR_063229
Natural varianti234 – 2341P → A.
Corresponds to variant rs12749726 [ dbSNP | Ensembl ].
VAR_047475

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.3. 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 .
CCDSi CCDS819.1.
RefSeqi NP_006483.2. NM_006492.2.
UniGenei Hs.669953.

3D structure databases

ProteinModelPortali O95076.
SMRi O95076. Positions 149-219.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000358807.

PTM databases

PhosphoSitei O95076.

Proteomic databases

PaxDbi O95076.
PRIDEi O95076.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369792 ; ENSP00000358807 ; ENSG00000156150 .
GeneIDi 257.
KEGGi hsa:257.
UCSCi uc001dzb.3. human.

Organism-specific databases

CTDi 257.
GeneCardsi GC01M110602.
H-InvDB HIX0023725.
HIX0159682.
HGNCi HGNC:449. ALX3.
MIMi 136760. phenotype.
606014. gene.
neXtProti NX_O95076.
Orphaneti 391474. Frontorhiny.
PharmGKBi PA24754.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG292934.
GeneTreei ENSGT00760000118958.
HOGENOMi HOG000231518.
HOVERGENi HBG004213.
InParanoidi O95076.
KOi K09323.
OMAi PYSHPHG.
OrthoDBi EOG7DRJ35.
PhylomeDBi O95076.
TreeFami TF350743.

Miscellaneous databases

GenomeRNAii 257.
NextBioi 1013.
PROi O95076.
SOURCEi Search...

Gene expression databases

Bgeei O95076.
CleanExi HS_ALX3.
Genevestigatori O95076.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 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.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: VARIANTS FND1 VAL-168; TRP-183; TRP-196 AND SER-203.

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: October 29, 2014
This is version 121 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

External Data

Dasty 3