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UniProtKB - Q9H161 (ALX4_HUMAN)
Protein
Homeobox protein aristaless-like 4
Gene
ALX4
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.
1 PublicationRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 214 – 273 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: GO_Central
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- HMG box domain binding Source: Ensembl
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- anterior/posterior pattern specification Source: Ensembl
- digestive tract development Source: Ensembl
- embryonic digit morphogenesis Source: Ensembl
- embryonic forelimb morphogenesis Source: Ensembl
- embryonic hindlimb morphogenesis Source: Ensembl
- embryonic skeletal system morphogenesis Source: Ensembl
- hair follicle development Source: UniProtKB
- muscle organ development Source: Ensembl
- post-embryonic development Source: Ensembl
- regulation of apoptotic process Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
- roof of mouth development Source: Ensembl
- skeletal system development Source: UniProtKB
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9H161 |
SignaLinki | Q9H161 |
SIGNORi | Q9H161 |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein aristaless-like 4 |
Gene namesi | Name:ALX4 Synonyms:KIAA1788 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:450, ALX4 |
MIMi | 605420, gene |
neXtProti | NX_Q9H161 |
VEuPathDBi | HostDB:ENSG00000052850 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation1 Publication
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- chromatin Source: NTNU_SB
- transcription regulator complex Source: Ensembl
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Parietal foramina 2 (PFM2)2 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010785 | 218 | R → Q in PFM2. 1 PublicationCorresponds to variant dbSNP:rs104894193EnsemblClinVar. | 1 | |
Natural variantiVAR_010897 | 272 | R → P in PFM2. 1 PublicationCorresponds to variant dbSNP:rs104894196EnsemblClinVar. | 1 |
Frontonasal dysplasia 2 (FND2)1 Publication
The disease is caused by variants 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.
Related information in OMIMPotocki-Shaffer syndrome (POSHS)2 Publications
The disease is caused by variants 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.
Related information in OMIMCraniosynostosis 5 (CRS5)1 Publication
Disease susceptibility is associated with variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069279 | 7 | V → F in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 PublicationCorresponds to variant dbSNP:rs281865153EnsemblClinVar. | 1 | |
Natural variantiVAR_069280 | 211 | K → 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 variantOrganism-specific databases
DisGeNETi | 60529 |
GeneReviewsi | ALX4 |
MalaCardsi | ALX4 |
MIMi | 601224, phenotype 609597, phenotype 613451, phenotype 615529, phenotype |
OpenTargetsi | ENSG00000052850 |
Orphaneti | 60015, Enlarged parietal foramina 228390, Frontonasal dysplasia-alopecia-genital anomalies syndrome 35093, Isolated scaphocephaly 52022, Potocki-Shaffer syndrome |
PharmGKBi | PA24755 |
Miscellaneous databases
Pharosi | Q9H161, Tbio |
Genetic variation databases
BioMutai | ALX4 |
DMDMi | 254763249 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048814 | 1 – 411 | Homeobox protein aristaless-like 4Add BLAST | 411 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 200 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
MassIVEi | Q9H161 |
MaxQBi | Q9H161 |
PaxDbi | Q9H161 |
PeptideAtlasi | Q9H161 |
PRIDEi | Q9H161 |
ProteomicsDBi | 80361 |
PTM databases
iPTMneti | Q9H161 |
PhosphoSitePlusi | Q9H161 |
Expressioni
Tissue specificityi
Expression is likely to be restricted to bone. Found in parietal bone.
Gene expression databases
Bgeei | ENSG00000052850, Expressed in calcaneal tendon and 49 other tissues |
Genevisiblei | Q9H161, HS |
Organism-specific databases
HPAi | ENSG00000052850, Tissue enhanced (breast, choroid plexus) |
Interactioni
Subunit structurei
Binds DNA.
By similarityBinary interactionsi
GO - Molecular functioni
- HMG box domain binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 121938, 18 interactors |
IntActi | Q9H161, 15 interactors |
MINTi | Q9H161 |
STRINGi | 9606.ENSP00000332744 |
Miscellaneous databases
RNActi | Q9H161, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
AlphaFoldDBi | Q9H161 |
BMRBi | Q9H161 |
SMRi | Q9H161 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 75 – 145 | DisorderedSequence analysisAdd BLAST | 71 | |
Regioni | 184 – 219 | DisorderedSequence analysisAdd BLAST | 36 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 391 – 404 | OARPROSITE-ProRule annotationAdd BLAST | 14 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 94 – 119 | Pro residuesSequence analysisAdd BLAST | 26 |
Sequence similaritiesi
Belongs to the paired homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0490, Eukaryota |
GeneTreei | ENSGT00940000159662 |
HOGENOMi | CLU_047013_0_0_1 |
InParanoidi | Q9H161 |
OMAi | PCYGKDN |
OrthoDBi | 738339at2759 |
PhylomeDBi | Q9H161 |
TreeFami | TF350743 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR033203, ALX4 IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR003654, OAR_dom |
PANTHERi | PTHR24329:SF322, PTHR24329:SF322, 2 hits |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF03826, OAR, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS50803, OAR, 1 hit |
i Sequence
Sequence statusi: Complete.
Q9H161-1 [UniParc]FASTAAdd to basket
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
Sequence cautioni
The sequence AAG23961 differs from that shown. Reason: Frameshift.Curated
The sequence BAB47417 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 134 | D → N in AAG23961 (PubMed:11017806).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069279 | 7 | V → F in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 PublicationCorresponds to variant dbSNP:rs281865153EnsemblClinVar. | 1 | |
Natural variantiVAR_010783 | 35 | R → T2 PublicationsCorresponds to variant dbSNP:rs3824915EnsemblClinVar. | 1 | |
Natural variantiVAR_010784 | 102 | P → S1 PublicationCorresponds to variant dbSNP:rs12421995EnsemblClinVar. | 1 | |
Natural variantiVAR_069280 | 211 | K → E in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 PublicationCorresponds to variant dbSNP:rs281865154EnsemblClinVar. | 1 | |
Natural variantiVAR_010785 | 218 | R → Q in PFM2. 1 PublicationCorresponds to variant dbSNP:rs104894193EnsemblClinVar. | 1 | |
Natural variantiVAR_058413 | 257 | R → T. Corresponds to variant dbSNP:rs3824915EnsemblClinVar. | 1 | |
Natural variantiVAR_010897 | 272 | R → P in PFM2. 1 PublicationCorresponds to variant dbSNP:rs104894196EnsemblClinVar. | 1 | |
Natural variantiVAR_069281 | 306 | P → L1 PublicationCorresponds to variant dbSNP:rs149897209EnsemblClinVar. | 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. |
CCDSi | CCDS31468.1 |
RefSeqi | NP_068745.2, NM_021926.3 |
Genome annotation databases
Ensembli | ENST00000652299.1; ENSP00000498217.1; ENSG00000052850.8 |
GeneIDi | 60529 |
KEGGi | hsa:60529 |
MANE-Selecti | ENST00000652299.1; ENSP00000498217.1; NM_021926.4; NP_068745.2 |
UCSCi | uc001myb.4, human |
Similar proteinsi
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. |
CCDSi | CCDS31468.1 |
RefSeqi | NP_068745.2, NM_021926.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2M0C | NMR | - | A | 209-280 | [»] | |
AlphaFoldDBi | Q9H161 | |||||
BMRBi | Q9H161 | |||||
SMRi | Q9H161 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 121938, 18 interactors |
IntActi | Q9H161, 15 interactors |
MINTi | Q9H161 |
STRINGi | 9606.ENSP00000332744 |
PTM databases
iPTMneti | Q9H161 |
PhosphoSitePlusi | Q9H161 |
Genetic variation databases
BioMutai | ALX4 |
DMDMi | 254763249 |
Proteomic databases
MassIVEi | Q9H161 |
MaxQBi | Q9H161 |
PaxDbi | Q9H161 |
PeptideAtlasi | Q9H161 |
PRIDEi | Q9H161 |
ProteomicsDBi | 80361 |
Protocols and materials databases
Antibodypediai | 13210, 298 antibodies from 22 providers |
DNASUi | 60529 |
Genome annotation databases
Ensembli | ENST00000652299.1; ENSP00000498217.1; ENSG00000052850.8 |
GeneIDi | 60529 |
KEGGi | hsa:60529 |
MANE-Selecti | ENST00000652299.1; ENSP00000498217.1; NM_021926.4; NP_068745.2 |
UCSCi | uc001myb.4, human |
Organism-specific databases
CTDi | 60529 |
DisGeNETi | 60529 |
GeneCardsi | ALX4 |
GeneReviewsi | ALX4 |
HGNCi | HGNC:450, ALX4 |
HPAi | ENSG00000052850, Tissue enhanced (breast, choroid plexus) |
MalaCardsi | ALX4 |
MIMi | 601224, phenotype 605420, gene 609597, phenotype 613451, phenotype 615529, phenotype |
neXtProti | NX_Q9H161 |
OpenTargetsi | ENSG00000052850 |
Orphaneti | 60015, Enlarged parietal foramina 228390, Frontonasal dysplasia-alopecia-genital anomalies syndrome 35093, Isolated scaphocephaly 52022, Potocki-Shaffer syndrome |
PharmGKBi | PA24755 |
VEuPathDBi | HostDB:ENSG00000052850 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0490, Eukaryota |
GeneTreei | ENSGT00940000159662 |
HOGENOMi | CLU_047013_0_0_1 |
InParanoidi | Q9H161 |
OMAi | PCYGKDN |
OrthoDBi | 738339at2759 |
PhylomeDBi | Q9H161 |
TreeFami | TF350743 |
Enzyme and pathway databases
PathwayCommonsi | Q9H161 |
SignaLinki | Q9H161 |
SIGNORi | Q9H161 |
Miscellaneous databases
BioGRID-ORCSi | 60529, 11 hits in 1091 CRISPR screens |
ChiTaRSi | ALX4, human |
GeneWikii | ALX4 |
GenomeRNAii | 60529 |
Pharosi | Q9H161, Tbio |
PROi | PR:Q9H161 |
RNActi | Q9H161, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000052850, Expressed in calcaneal tendon and 49 other tissues |
Genevisiblei | Q9H161, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR033203, ALX4 IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR003654, OAR_dom |
PANTHERi | PTHR24329:SF322, PTHR24329:SF322, 2 hits |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF03826, OAR, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS50803, OAR, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ALX4_HUMAN | |
Accessioni | Q9H161Primary (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: | May 25, 2022 | |
This is version 189 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families