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Protein

Homeobox protein aristaless-like 4

Gene

Alx4

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor involved in skull and limb development.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi202 – 26160HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • HMG box domain binding Source: UniProtKB
  • protein heterodimerization activity Source: MGI
  • RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  • sequence-specific DNA binding Source: MGI
  • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding Source: NTNU_SB
  • transcription factor activity, sequence-specific DNA binding Source: MGI

GO - Biological processi

  • anterior/posterior pattern specification Source: MGI
  • digestive tract development Source: MGI
  • embryonic digit morphogenesis Source: MGI
  • embryonic forelimb morphogenesis Source: MGI
  • embryonic hindlimb morphogenesis Source: MGI
  • embryonic skeletal system morphogenesis Source: MGI
  • hair follicle development Source: MGI
  • limb morphogenesis Source: MGI
  • muscle organ development Source: MGI
  • palate development Source: MGI
  • pattern specification process Source: MGI
  • positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  • post-embryonic development Source: MGI
  • regulation of apoptotic process Source: MGI
  • regulation of transcription from RNA polymerase II promoter Source: MGI
  • skeletal system morphogenesis Source: MGI
  • transcription from RNA polymerase II promoter Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein aristaless-like 4
Alternative name(s):
ALX-4
Gene namesi
Name:Alx4
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 2

Organism-specific databases

MGIiMGI:108359. Alx4.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: MGI
  • transcription factor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Defects in Alx4 are the cause of Strong luxoid (lst) phenotype. At heterozygosity lst is characterized by preaxial abnormalities of the hindfeet and, very rarely, of the forefeet. Homozygotes show preaxial polydactyly of all four limbs, reductions and duplications of the radius, absence of the tibia, craniofacial defects, reduction of the pubis, and dorsal alopecia.

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 399399Homeobox protein aristaless-like 4PRO_0000048815Add
BLAST

Proteomic databases

PaxDbiO35137.
PRIDEiO35137.

PTM databases

PhosphoSiteiO35137.

Expressioni

Tissue specificityi

Expressed in osteoblasts. Not expressed in brain, heart, intestine, kidney, liver, muscle, spleen and testis.

Developmental stagei

Expressed from E8.25 and confined to mesenchymal cells throughout the embryo development. Expression is seen at several sites including craniofacial region, first branchial arch and anterior aspect of the limb bud.

Gene expression databases

BgeeiO35137.
CleanExiMM_ALX4.
ExpressionAtlasiO35137. baseline and differential.
GenevisibleiO35137. MM.

Interactioni

Subunit structurei

Binds DNA.

GO - Molecular functioni

  • HMG box domain binding Source: UniProtKB
  • protein heterodimerization activity Source: MGI

Protein-protein interaction databases

BioGridi198081. 32 interactions.
STRINGi10090.ENSMUSP00000047962.

Structurei

3D structure databases

ProteinModelPortaliO35137.
SMRiO35137. Positions 197-268.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi379 – 39214OARPROSITE-ProRule annotationAdd
BLAST

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.
HOVERGENiHBG004214.
InParanoidiO35137.
KOiK09451.
OMAiKFQPQPS.
OrthoDBiEOG7DRJ35.
PhylomeDBiO35137.
TreeFamiTF350743.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR033203. ALX4.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PANTHERiPTHR24329:SF322. PTHR24329:SF322. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O35137-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNAETCVSYC ESPAAAMDAY YSPVSQSREG SSPFRGFPGG DKFGTTFLSA
60 70 80 90 100
GAKGQGFGDA KSRARYGAGQ QDLAAPLESS SGARGSFNKF QPQPPTPQPP
110 120 130 140 150
PAPPAPPAHL YLQRGACKTP PDGSLKLQEG SGGHNAALQV PCYAKESNLG
160 170 180 190 200
EPELPPDSEP VGMDNSYLSV KETGAKGPQD RASAEIPSPL EKTDSESNKG
210 220 230 240 250
KKRRNRTTFT SYQLEELEKV FQKTHYPDVY AREQLAMRTD LTEARVQVWF
260 270 280 290 300
QNRRAKWRKR ERFGQMQQVR THFSTAYELP LLTRAENYAQ IQNPSWIGNN
310 320 330 340 350
GAASPVPACV VPCDPVPACM SPHAHPPGSG ASSVSDFLSV SGAGSHVGQT
360 370 380 390
HMGSLFGAAG ISPGLNGYEM NGEPDRKTSS IAALRMKAKE HSAAISWAT
Length:399
Mass (Da):42,763
Last modified:January 1, 1998 - v1
Checksum:i2EDE19DDACA21D25
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti206 – 2061R → Q in lst; abolishes DNA binding and transcriptional activation. 1 Publication

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF001465 mRNA. Translation: AAC39943.1.
CCDSiCCDS16455.1.
PIRiJC6522.
RefSeqiNP_031468.1. NM_007442.3.
UniGeneiMm.389389.

Genome annotation databases

EnsembliENSMUST00000042078; ENSMUSP00000047962; ENSMUSG00000040310.
GeneIDi11695.
KEGGimmu:11695.
UCSCiuc012bzt.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF001465 mRNA. Translation: AAC39943.1.
CCDSiCCDS16455.1.
PIRiJC6522.
RefSeqiNP_031468.1. NM_007442.3.
UniGeneiMm.389389.

3D structure databases

ProteinModelPortaliO35137.
SMRiO35137. Positions 197-268.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi198081. 32 interactions.
STRINGi10090.ENSMUSP00000047962.

PTM databases

PhosphoSiteiO35137.

Proteomic databases

PaxDbiO35137.
PRIDEiO35137.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000042078; ENSMUSP00000047962; ENSMUSG00000040310.
GeneIDi11695.
KEGGimmu:11695.
UCSCiuc012bzt.1. mouse.

Organism-specific databases

CTDi60529.
MGIiMGI:108359. Alx4.

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG004214.
InParanoidiO35137.
KOiK09451.
OMAiKFQPQPS.
OrthoDBiEOG7DRJ35.
PhylomeDBiO35137.
TreeFamiTF350743.

Miscellaneous databases

NextBioi279357.
PROiO35137.
SOURCEiSearch...

Gene expression databases

BgeeiO35137.
CleanExiMM_ALX4.
ExpressionAtlasiO35137. baseline and differential.
GenevisibleiO35137. MM.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR033203. ALX4.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PANTHERiPTHR24329:SF322. PTHR24329:SF322. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Alx-4: cDNA cloning and characterization of a novel paired-type homeodomain protein."
    Qu S., Li L., Wisdom R.
    Gene 203:217-223(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Strain: C57BL/6J.
    Tissue: Embryo.
  2. "Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly."
    Qu S., Tucker S.C., Ehrlich J.S., Levorse J.M., Flaherty L.A., Wisdom R., Vogt T.F.
    Development 125:2711-2721(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LST GLN-206.

Entry informationi

Entry nameiALX4_MOUSE
AccessioniPrimary (citable) accession number: O35137
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: January 1, 1998
Last modified: May 11, 2016
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. 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.