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UniProtKB - Q9H161 (ALX4_HUMAN)

Entry version 189 (25 May 2022)
Sequence version 2 (28 Jul 2009)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi214 – 273HomeoboxPROSITE-ProRule annotationAdd BLAST60

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9H161

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9H161

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9H161

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Homeobox protein aristaless-like 4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ALX4
Synonyms:KIAA1788
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:450, ALX4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605420, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H161

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000052850

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 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 OMIM
Potocki-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 OMIM
Craniosynostosis 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 OMIM
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 variant

Organism-specific databases

DisGeNET

More...DisGeNETi		60529

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ALX4

MalaCards human disease database

More...MalaCardsi		ALX4
MIMi601224, phenotype
609597, phenotype
613451, phenotype
615529, phenotype

Open Targets

More...OpenTargetsi		ENSG00000052850

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		60015, Enlarged parietal foramina
228390, Frontonasal dysplasia-alopecia-genital anomalies syndrome
35093, Isolated scaphocephaly
52022, Potocki-Shaffer syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24755

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9H161, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ALX4

Domain mapping of disease mutations (DMDM)

More...DMDMi		254763249

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000488141 – 411Homeobox protein aristaless-like 4Add BLAST411

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei200PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9H161

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9H161

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9H161

PeptideAtlas

More...PeptideAtlasi		Q9H161

PRoteomics IDEntifications database

More...PRIDEi		Q9H161

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		80361

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H161

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9H161

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000052850, Expressed in calcaneal tendon and 49 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H161, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000052850, Tissue enhanced (breast, choroid plexus)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds DNA.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121938, 18 interactors

Protein interaction database and analysis system

More...IntActi		Q9H161, 15 interactors

Molecular INTeraction database

More...MINTi		Q9H161

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000332744

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9H161, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1411
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9H161

Biological Magnetic Resonance Data Bank

More...BMRBi		Q9H161

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9H161

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni75 – 145DisorderedSequence analysisAdd BLAST71
Regioni184 – 219DisorderedSequence analysisAdd BLAST36

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi391 – 404OARPROSITE-ProRule annotationAdd BLAST14

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi94 – 119Pro residuesSequence analysisAdd BLAST26

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0490, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159662

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_047013_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H161

Identification of Orthologs from Complete Genome Data

More...OMAi		PCYGKDN

Database of Orthologous Groups

More...OrthoDBi		738339at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H161

TreeFam database of animal gene trees

More...TreeFami		TF350743

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR033203, ALX4
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR003654, OAR_dom

The PANTHER Classification System

More...PANTHERi		PTHR24329:SF322, PTHR24329:SF322, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046, Homeodomain, 1 hit
PF03826, OAR, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 1 hit
PS50803, OAR, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD41780B230C7E55C
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs149897209EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF294629 mRNA Translation: AAG23961.1 Frameshift.
AF308822 AF308825 Genomic DNA Translation: AAK38835.1
AJ404888 mRNA Translation: CAC15060.1
AJ279074 AJ279077 Genomic DNA Translation: CAC15120.1
AB058691 mRNA Translation: BAB47417.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31468.1

NCBI Reference Sequences

More...RefSeqi		NP_068745.2, NM_021926.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000652299.1; ENSP00000498217.1; ENSG00000052850.8

Database of genes from NCBI RefSeq genomes

More...GeneIDi		60529

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:60529

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000652299.1; ENSP00000498217.1; NM_021926.4; NP_068745.2

UCSC genome browser

More...UCSCi		uc001myb.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M0CNMR-A209-280[»]
AlphaFoldDBiQ9H161
BMRBiQ9H161
SMRiQ9H161
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi121938, 18 interactors
IntActiQ9H161, 15 interactors
MINTiQ9H161
STRINGi9606.ENSP00000332744

PTM databases

iPTMnetiQ9H161
PhosphoSitePlusiQ9H161

Genetic variation databases

BioMutaiALX4
DMDMi254763249

Proteomic databases

MassIVEiQ9H161
MaxQBiQ9H161
PaxDbiQ9H161
PeptideAtlasiQ9H161
PRIDEiQ9H161
ProteomicsDBi80361

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		13210, 298 antibodies from 22 providers

The DNASU plasmid repository

More...DNASUi		60529

Genome annotation databases

EnsembliENST00000652299.1; ENSP00000498217.1; ENSG00000052850.8
GeneIDi60529
KEGGihsa:60529
MANE-SelectiENST00000652299.1; ENSP00000498217.1; NM_021926.4; NP_068745.2
UCSCiuc001myb.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		60529
DisGeNETi60529

GeneCards: human genes, protein and diseases

More...GeneCardsi		ALX4
GeneReviewsiALX4
HGNCiHGNC:450, ALX4
HPAiENSG00000052850, Tissue enhanced (breast, choroid plexus)
MalaCardsiALX4
MIMi601224, phenotype
605420, gene
609597, phenotype
613451, phenotype
615529, phenotype
neXtProtiNX_Q9H161
OpenTargetsiENSG00000052850
Orphaneti60015, Enlarged parietal foramina
228390, Frontonasal dysplasia-alopecia-genital anomalies syndrome
35093, Isolated scaphocephaly
52022, Potocki-Shaffer syndrome
PharmGKBiPA24755
VEuPathDBiHostDB:ENSG00000052850

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0490, Eukaryota
GeneTreeiENSGT00940000159662
HOGENOMiCLU_047013_0_0_1
InParanoidiQ9H161
OMAiPCYGKDN
OrthoDBi738339at2759
PhylomeDBiQ9H161
TreeFamiTF350743

Enzyme and pathway databases

PathwayCommonsiQ9H161
SignaLinkiQ9H161
SIGNORiQ9H161

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		60529, 11 hits in 1091 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ALX4, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ALX4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		60529
PharosiQ9H161, Tbio

Protein Ontology

More...PROi		PR:Q9H161
RNActiQ9H161, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000052850, Expressed in calcaneal tendon and 49 other tissues
GenevisibleiQ9H161, HS

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, 2 hits
PfamiView protein in Pfam
PF00046, Homeodomain, 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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiALX4_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H161
Secondary accession number(s): Q96JN7, Q9H198, Q9HAY9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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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