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Protein

Homeobox protein aristaless-like 4

Gene

ALX4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi214 – 273HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ9H161

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein aristaless-like 4
Gene namesi
Name:ALX4
Synonyms:KIAA1788
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000052850.5
HGNCiHGNC:450 ALX4
MIMi605420 gene
neXtProtiNX_Q9H161

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Parietal foramina 2 (PFM2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome.
See also OMIM:609597
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010785218R → Q in PFM2. 1 PublicationCorresponds to variant dbSNP:rs104894193EnsemblClinVar.1
Natural variantiVAR_010897272R → P in PFM2. 1 PublicationCorresponds to variant dbSNP:rs104894196EnsemblClinVar.1
Frontonasal dysplasia 2 (FND2)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:613451
Potocki-Shaffer syndrome (POSHS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.
See also OMIM:601224
Craniosynostosis 5 (CRS5)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
See also OMIM:615529
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0692797V → F in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 PublicationCorresponds to variant dbSNP:rs281865153EnsemblClinVar.1
Natural variantiVAR_069280211K → E in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 PublicationCorresponds to variant dbSNP:rs281865154EnsemblClinVar.1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNETi60529
GeneReviewsiALX4
MalaCardsiALX4
MIMi601224 phenotype
609597 phenotype
613451 phenotype
615529 phenotype
OpenTargetsiENSG00000052850
Orphaneti228390 Frontonasal dysplasia with alopecia and genital anomaly
35093 Isolated scaphocephaly
60015 Parietal foramina
52022 Potocki-Shaffer syndrome
PharmGKBiPA24755

Polymorphism and mutation databases

BioMutaiALX4
DMDMi254763249

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000488141 – 411Homeobox protein aristaless-like 4Add BLAST411

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei200PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H161
MaxQBiQ9H161
PaxDbiQ9H161
PeptideAtlasiQ9H161
PRIDEiQ9H161

PTM databases

iPTMnetiQ9H161
PhosphoSitePlusiQ9H161

Expressioni

Tissue specificityi

Expression is likely to be restricted to bone. Found in parietal bone.

Gene expression databases

BgeeiENSG00000052850
CleanExiHS_ALX4
GenevisibleiQ9H161 HS

Organism-specific databases

HPAiHPA001903

Interactioni

Subunit structurei

Binds DNA.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121938, 13 interactors
IntActiQ9H161, 5 interactors
MINTiQ9H161
STRINGi9606.ENSP00000332744

Structurei

Secondary structure

1411
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi223 – 235Combined sources13
Helixi241 – 251Combined sources11
Helixi255 – 269Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M0CNMR-A209-280[»]
ProteinModelPortaliQ9H161
SMRiQ9H161
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi391 – 404OARPROSITE-ProRule annotationAdd BLAST14

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi104 – 115Poly-GlnAdd BLAST12

Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00900000140809
HOGENOMiHOG000231518
HOVERGENiHBG004214
InParanoidiQ9H161
KOiK09451
OMAiHMGQTHM
OrthoDBiEOG091G0B1L
PhylomeDBiQ9H161
TreeFamiTF350743

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR033203 ALX4
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR003654 OAR_dom
PANTHERiPTHR24329:SF322 PTHR24329:SF322, 1 hit
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF03826 OAR, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS50803 OAR, 1 hit

Sequencei

Sequence statusi: Complete.

Q9H161-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNAETCVSYC ESPAAAMDAY YSPVSQSREG SSPFRAFPGG DKFGTTFLSA
60 70 80 90 100
AAKAQGFGDA KSRARYGAGQ QDLATPLESG AGARGSFNKF QPQPSTPQPQ
110 120 130 140 150
PPPQPQPQQQ QPQPQPPAQP HLYLQRGACK TPPDGSLKLQ EGSSGHSAAL
160 170 180 190 200
QVPCYAKESS LGEPELPPDS DTVGMDSSYL SVKEAGVKGP QDRASSDLPS
210 220 230 240 250
PLEKADSESN KGKKRRNRTT FTSYQLEELE KVFQKTHYPD VYAREQLAMR
260 270 280 290 300
TDLTEARVQV WFQNRRAKWR KRERFGQMQQ VRTHFSTAYE LPLLTRAENY
310 320 330 340 350
AQIQNPSWLG NNGAASPVPA CVVPCDPVPA CMSPHAHPPG SGASSVTDFL
360 370 380 390 400
SVSGAGSHVG QTHMGSLFGA ASLSPGLNGY ELNGEPDRKT SSIAALRMKA
410
KEHSAAISWA T
Length:411
Mass (Da):44,241
Last modified:July 28, 2009 - v2
Checksum:iD41780B230C7E55C
GO

Sequence cautioni

The sequence AAG23961 differs from that shown. Reason: Frameshift at positions 314, 323 and 340.Curated
The sequence BAB47417 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti134D → N in AAG23961 (PubMed:11017806).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0692797V → F in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 PublicationCorresponds to variant dbSNP:rs281865153EnsemblClinVar.1
Natural variantiVAR_01078335R → T2 PublicationsCorresponds to variant dbSNP:rs3824915EnsemblClinVar.1
Natural variantiVAR_010784102P → S1 PublicationCorresponds to variant dbSNP:rs12421995EnsemblClinVar.1
Natural variantiVAR_069280211K → E in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 PublicationCorresponds to variant dbSNP:rs281865154EnsemblClinVar.1
Natural variantiVAR_010785218R → Q in PFM2. 1 PublicationCorresponds to variant dbSNP:rs104894193EnsemblClinVar.1
Natural variantiVAR_058413257R → T. Corresponds to variant dbSNP:rs3824915EnsemblClinVar.1
Natural variantiVAR_010897272R → P in PFM2. 1 PublicationCorresponds to variant dbSNP:rs104894196EnsemblClinVar.1
Natural variantiVAR_069281306P → L1 PublicationCorresponds to variant dbSNP:rs149897209Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF294629 mRNA Translation: AAG23961.1 Frameshift.
AF308822
, AF308823, AF308824, AF308825 Genomic DNA Translation: AAK38835.1
AJ404888 mRNA Translation: CAC15060.1
AJ279074
, AJ279075, AJ279076, AJ279077 Genomic DNA Translation: CAC15120.1
AB058691 mRNA Translation: BAB47417.1 Different initiation.
CCDSiCCDS31468.1
RefSeqiNP_068745.2, NM_021926.3
UniGeneiHs.436055

Genome annotation databases

EnsembliENST00000329255; ENSP00000332744; ENSG00000052850
GeneIDi60529
KEGGihsa:60529
UCSCiuc001myb.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiALX4_HUMAN
AccessioniPrimary (citable) accession number: Q9H161
Secondary accession number(s): Q96JN7, Q9H198, Q9HAY9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: July 28, 2009
Last modified: May 23, 2018
This is version 162 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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