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Protein

Homeobox protein aristaless-like 4

Gene

ALX4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000052850-MONOMER.

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

HGNCiHGNC:450. ALX4.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
  • transcription factor complex Source: Ensembl
Complete GO annotation...

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 rs104894193dbSNPEnsembl.1
Natural variantiVAR_010897272R → P in PFM2. 1 PublicationCorresponds to variant rs104894196dbSNPEnsembl.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 rs281865153dbSNPEnsembl.1
Natural variantiVAR_069280211K → E in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 PublicationCorresponds to variant rs281865154dbSNPEnsembl.1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNETi60529.
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

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.

Interactioni

Subunit structurei

Binds DNA.By similarity

Protein-protein interaction databases

BioGridi121938. 13 interactors.
IntActiQ9H161. 5 interactors.
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
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG004214.
InParanoidiQ9H161.
KOiK09451.
OMAiKFQPQPS.
OrthoDBiEOG091G0B1L.
PhylomeDBiQ9H161.
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.

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 rs281865153dbSNPEnsembl.1
Natural variantiVAR_01078335R → T.2 PublicationsCorresponds to variant rs3824915dbSNPEnsembl.1
Natural variantiVAR_010784102P → S.1 PublicationCorresponds to variant rs12421995dbSNPEnsembl.1
Natural variantiVAR_069280211K → E in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 PublicationCorresponds to variant rs281865154dbSNPEnsembl.1
Natural variantiVAR_010785218R → Q in PFM2. 1 PublicationCorresponds to variant rs104894193dbSNPEnsembl.1
Natural variantiVAR_058413257R → T.Corresponds to variant rs3824915dbSNPEnsembl.1
Natural variantiVAR_010897272R → P in PFM2. 1 PublicationCorresponds to variant rs104894196dbSNPEnsembl.1
Natural variantiVAR_069281306P → L.1 PublicationCorresponds to variant rs149897209dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

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

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ9H161.
PhosphoSitePlusiQ9H161.

Polymorphism and mutation databases

BioMutaiALX4.
DMDMi254763249.

Proteomic databases

MaxQBiQ9H161.
PaxDbiQ9H161.
PeptideAtlasiQ9H161.
PRIDEiQ9H161.

Protocols and materials databases

DNASUi60529.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi60529.
DisGeNETi60529.
GeneCardsiALX4.
GeneReviewsiALX4.
HGNCiHGNC:450. ALX4.
MalaCardsiALX4.
MIMi601224. phenotype.
605420. gene.
609597. phenotype.
613451. phenotype.
615529. phenotype.
neXtProtiNX_Q9H161.
OpenTargetsiENSG00000052850.
Orphaneti228390. Frontonasal dysplasia with alopecia and genital anomaly.
35093. Isolated scaphocephaly.
60015. Parietal foramina.
52022. Potocki-Shaffer syndrome.
PharmGKBiPA24755.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG004214.
InParanoidiQ9H161.
KOiK09451.
OMAiKFQPQPS.
OrthoDBiEOG091G0B1L.
PhylomeDBiQ9H161.
TreeFamiTF350743.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000052850-MONOMER.

Miscellaneous databases

GeneWikiiALX4.
GenomeRNAii60529.
PROiQ9H161.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000052850.
CleanExiHS_ALX4.
GenevisibleiQ9H161. HS.

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...

Entry informationi

Entry nameiALX4_HUMAN
AccessioniPrimary (citable) accession number: Q9H161
Secondary accession number(s): Q96JN7, Q9H198, Q9HAY9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: July 28, 2009
Last modified: November 30, 2016
This is version 151 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

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

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.