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Q9H161

- ALX4_HUMAN

UniProt

Q9H161 - ALX4_HUMAN

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Protein

Homeobox protein aristaless-like 4

Gene

ALX4

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi214 – 27360HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. sequence-specific DNA binding Source: Ensembl
  3. sequence-specific DNA binding transcription factor activity Source: Ensembl

GO - Biological processi

  1. anterior/posterior pattern specification Source: Ensembl
  2. digestive tract development Source: Ensembl
  3. embryonic digit morphogenesis Source: Ensembl
  4. embryonic forelimb morphogenesis Source: Ensembl
  5. embryonic hindlimb morphogenesis Source: Ensembl
  6. embryonic skeletal system morphogenesis Source: Ensembl
  7. hair follicle development Source: UniProtKB
  8. muscle organ development Source: Ensembl
  9. palate development Source: Ensembl
  10. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  11. post-embryonic development Source: Ensembl
  12. regulation of apoptotic process Source: Ensembl
  13. skeletal system development Source: UniProtKB
  14. transcription, DNA-templated Source: UniProtKB-KW
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
Gene namesi
Name:ALX4
Synonyms:KIAA1788
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:450. ALX4.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Parietal foramina 2 (PFM2) [MIM:609597]: Autosomal 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti218 – 2181R → Q in PFM2. 1 Publication
VAR_010785
Natural varianti272 – 2721R → P in PFM2. 1 Publication
VAR_010897
Frontonasal dysplasia 2 (FND2) [MIM:613451]: 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.
Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Craniosynostosis 5 (CRS5) [MIM:615529]: A 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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71V → F in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 Publication
VAR_069279
Natural varianti211 – 2111K → E in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 Publication
VAR_069280

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 411411Homeobox protein aristaless-like 4PRO_0000048814Add
BLAST

Proteomic databases

MaxQBiQ9H161.
PaxDbiQ9H161.
PRIDEiQ9H161.

PTM databases

PhosphoSiteiQ9H161.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9H161.
CleanExiHS_ALX4.
GenevestigatoriQ9H161.

Interactioni

Subunit structurei

Binds DNA.By similarity

Protein-protein interaction databases

BioGridi121938. 10 interactions.
STRINGi9606.ENSP00000332744.

Structurei

Secondary structure

1
411
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi223 – 23513
Helixi241 – 25111
Helixi255 – 26915

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2M0CNMR-A209-280[»]
ProteinModelPortaliQ9H161.
SMRiQ9H161. Positions 209-280.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi391 – 40414OARAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi104 – 11512Poly-GlnAdd
BLAST

Sequence similaritiesi

Belongs to the paired homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG309608.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG004214.
InParanoidiQ9H161.
KOiK09451.
OMAiVSGAGGH.
OrthoDBiEOG7DRJ35.
PhylomeDBiQ9H161.
TreeFamiTF350743.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
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 AAG23961.1 differs from that shown. Reason: Frameshift at positions 314, 323 and 340.
The sequence BAB47417.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti134 – 1341D → N in AAG23961. (PubMed:11017806)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71V → F in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 Publication
VAR_069279
Natural varianti35 – 351R → T.2 Publications
Corresponds to variant rs3824915 [ dbSNP | Ensembl ].
VAR_010783
Natural varianti102 – 1021P → S.1 Publication
Corresponds to variant rs12421995 [ dbSNP | Ensembl ].
VAR_010784
Natural varianti211 – 2111K → E in CRS5; low-penetrance mutation associated with disease susceptibility; results in gain-of-function. 1 Publication
VAR_069280
Natural varianti218 – 2181R → Q in PFM2. 1 Publication
VAR_010785
Natural varianti257 – 2571R → T.
Corresponds to variant rs3824915 [ dbSNP | Ensembl ].
VAR_058413
Natural varianti272 – 2721R → P in PFM2. 1 Publication
VAR_010897
Natural varianti306 – 3061P → L.1 Publication
VAR_069281

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Polymorphism databases

DMDMi254763249.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.436055.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2M0C NMR - A 209-280 [» ]
ProteinModelPortali Q9H161.
SMRi Q9H161. Positions 209-280.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121938. 10 interactions.
STRINGi 9606.ENSP00000332744.

PTM databases

PhosphoSitei Q9H161.

Polymorphism databases

DMDMi 254763249.

Proteomic databases

MaxQBi Q9H161.
PaxDbi Q9H161.
PRIDEi Q9H161.

Protocols and materials databases

DNASUi 60529.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000329255 ; ENSP00000332744 ; ENSG00000052850 .
GeneIDi 60529.
KEGGi hsa:60529.
UCSCi uc001myb.3. human.

Organism-specific databases

CTDi 60529.
GeneCardsi GC11M044238.
GeneReviewsi ALX4.
HGNCi HGNC:450. ALX4.
MIMi 601224. phenotype.
605420. gene.
609597. phenotype.
613451. phenotype.
615529. phenotype.
neXtProti NX_Q9H161.
Orphaneti 228390. Frontonasal dysplasia with alopecia and genital anomaly.
35093. Isolated scaphocephaly.
60015. Parietal foramina.
52022. Potocki-Shaffer syndrome.
PharmGKBi PA24755.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG309608.
GeneTreei ENSGT00760000118958.
HOGENOMi HOG000231518.
HOVERGENi HBG004214.
InParanoidi Q9H161.
KOi K09451.
OMAi VSGAGGH.
OrthoDBi EOG7DRJ35.
PhylomeDBi Q9H161.
TreeFami TF350743.

Miscellaneous databases

GeneWikii ALX4.
GenomeRNAii 60529.
NextBioi 65433.
PROi Q9H161.
SOURCEi Search...

Gene expression databases

Bgeei Q9H161.
CleanExi HS_ALX4.
Genevestigatori Q9H161.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF03826. OAR. 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.
PS50803. OAR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome."
    Wu Y.-Q., Badano J.L., McCaskill C., Vogel H., Potocki L., Shaffer L.G.
    Am. J. Hum. Genet. 67:1327-1332(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)."
    Wuyts W., Cleiren E., Homfray T., Rasore-Quartino A., Vanhoenacker F., Van Hul W.
    J. Med. Genet. 37:916-920(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-35, VARIANT PFM2 PRO-272.
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS THR-35 AND SER-102, VARIANT PFM2 GLN-218.
  4. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
    DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  5. Cited for: INVOLVEMENT IN FND2, FUNCTION, SUBCELLULAR LOCATION.
  6. Cited for: VARIANTS CRS5 PHE-7 AND GLU-211, VARIANT LEU-306, CHARACTERIZATION OF VARIANTS CRS5 PHE-7 AND GLU-211, CHARACTERIZATION OF VARIANT LEU-306.

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: October 29, 2014
This is version 135 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

External Data

Dasty 3