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Entry version 192 (13 Feb 2019)
Sequence version 2 (15 Jul 1999)
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Protein

Homeobox protein Hox-A1

Gene

HOXA1

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

Sequence-specific transcription factor (By similarity). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (PubMed:16155570). Also part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments (By similarity). Activates transcription in the presence of PBX1A and PKNOX1 (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi229 – 288HomeoboxPROSITE-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

GO - Biological processi

<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 functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis

SIGNOR Signaling Network Open Resource

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SIGNORi
P49639

<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_and_taxonomy_section">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 Hox-A1
Alternative name(s):
Homeobox protein Hox-1F
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:HOXA1
Synonyms:HOX1F
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000105991.7

Human Gene Nomenclature Database

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HGNCi
HGNC:5099 HOXA1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
142955 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P49639

<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

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

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

Athabaskan brainstem dysgenesis syndrome (ABDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies.
See also OMIM:601536
Bosley-Salih-Alorainy syndrome (BSAS)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation.
See also OMIM:601536

Keywords - Diseasei

Autism spectrum disorder

Organism-specific databases

DisGeNET

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DisGeNETi
3198

MalaCards human disease database

More...
MalaCardsi
HOXA1
MIMi601536 phenotype

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

More...
Orphaneti
69739 Athabaskan brainstem dysgenesis syndrome
69737 Bosley-Salih-Alorainy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29376

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HOXA1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
6166216

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002000301 – 335Homeobox protein Hox-A1Add BLAST335

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P49639

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

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PaxDbi
P49639

PeptideAtlas

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PeptideAtlasi
P49639

PRoteomics IDEntifications database

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PRIDEi
P49639

ProteomicsDB human proteome resource

More...
ProteomicsDBi
56033
56034 [P49639-2]
56035 [P49639-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P49639

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

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PhosphoSitePlusi
P49639

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000105991 Expressed in 91 organ(s), highest expression level in embryo

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P49639 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P49639 HS

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with OGT (via TPR repeats domain); the interaction takes place mainly in the nucleus.By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
itself4EBI-740785,EBI-740785
Q7Z7834EBI-740785,EBI-9088990
ADAMTSL4Q6UY14-37EBI-740785,EBI-10173507
ALG13Q9NP73-43EBI-740785,EBI-10186621
AMMECR1Q9Y4X0-34EBI-740785,EBI-12823597
BLZF1Q9H2G95EBI-740785,EBI-2548012
BSCL2J3KQ124EBI-740785,EBI-11532900
CERCAMQ5T4B24EBI-740785,EBI-12261896
CHIC2Q9UKJ53EBI-740785,EBI-741528
CHRDQ9H2X03EBI-740785,EBI-947551
COL8A1P276584EBI-740785,EBI-747133
CYSRT1A8MQ034EBI-740785,EBI-3867333
DTX2Q86UW94EBI-740785,EBI-740376
FAM171A2Q8N0U14EBI-740785,EBI-10264767
FAM221AA4D1614EBI-740785,EBI-11960181
GATA1P159763EBI-740785,EBI-3909284
GP9P147703EBI-740785,EBI-1754109
GRNP287999EBI-740785,EBI-747754
GUSBP1Q154864EBI-740785,EBI-712457
Hoxa1P090224EBI-740785,EBI-3957603From Mus musculus.
KPRPQ5T7494EBI-740785,EBI-10981970
KRT31Q153235EBI-740785,EBI-948001
KRT38O760155EBI-740785,EBI-1047263
KRT40Q6A1623EBI-740785,EBI-10171697
KRT83P783854EBI-740785,EBI-10221390
KRTAP10-11P604127EBI-740785,EBI-10217483
KRTAP10-5P603705EBI-740785,EBI-10172150
KRTAP10-8P604107EBI-740785,EBI-10171774
KRTAP10-9P604117EBI-740785,EBI-10172052
KRTAP12-1P599909EBI-740785,EBI-10210845
KRTAP12-2P599913EBI-740785,EBI-10176379
KRTAP12-3P603284EBI-740785,EBI-11953334
KRTAP12-4P603297EBI-740785,EBI-10176396
KRTAP2-3P0C7H84EBI-740785,EBI-10196781
KRTAP26-1Q6PEX35EBI-740785,EBI-3957672
KRTAP3-2Q9BYR75EBI-740785,EBI-751260
KRTAP4-11Q9BYQ65EBI-740785,EBI-10302392
KRTAP4-12Q9BQ666EBI-740785,EBI-739863
KRTAP4-2Q9BYR57EBI-740785,EBI-10172511
KRTAP4-7Q9BYR03EBI-740785,EBI-10302547
KRTAP5-6Q6L8G97EBI-740785,EBI-10250562
KRTAP5-9P263719EBI-740785,EBI-3958099
KRTAP6-2Q3LI664EBI-740785,EBI-11962084
KRTAP9-2Q9BYQ49EBI-740785,EBI-1044640
KRTAP9-3Q9BYQ34EBI-740785,EBI-1043191
KRTAP9-4Q9BYQ23EBI-740785,EBI-10185730
KRTAP9-8Q9BYQ04EBI-740785,EBI-11958364
LCE1AQ5T7P24EBI-740785,EBI-11962058
LCE1BQ5T7P37EBI-740785,EBI-10245913
LCE1FQ5T7544EBI-740785,EBI-11958008
LCE2CQ5TA814EBI-740785,EBI-11973993
LCE2DQ5TA824EBI-740785,EBI-10246750
LCE3EQ5T5B03EBI-740785,EBI-10245456
LCE4AQ5TA787EBI-740785,EBI-10246358
LCE5AQ5TCM94EBI-740785,EBI-11955689
LGALS13Q9UHV85EBI-740785,EBI-3957707
MACO1Q8N5G24EBI-740785,EBI-2683507
MDFIQ997503EBI-740785,EBI-724076
MGC45800B3KNC54EBI-740785,EBI-14206015
N4BP2L2Q928023EBI-740785,EBI-2514973
NOTCH2NLAQ7Z3S95EBI-740785,EBI-945833
PBX2P404253EBI-740785,EBI-348489
PRNPP041564EBI-740785,EBI-977302
PROP1O753604EBI-740785,EBI-9027467
RBPMSQ930623EBI-740785,EBI-740322
RGS17Q9UGC65EBI-740785,EBI-3918154
RGS20O760813EBI-740785,EBI-1052678
RGS20O76081-63EBI-740785,EBI-10178530
SDCBPO005605EBI-740785,EBI-727004
SPRY1O436097EBI-740785,EBI-3866665
SUV39H1O434632EBI-740785,EBI-349968
TBC1D10CQ8IV045EBI-740785,EBI-10261452
TRAF1Q130773EBI-740785,EBI-359224
TRIM42Q8IWZ510EBI-740785,EBI-5235829
VWC2Q2TAL64EBI-740785,EBI-11957238
VWC2LB2RUY74EBI-740785,EBI-11747707

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109438, 70 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P49639

Protein interaction database and analysis system

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IntActi
P49639, 278 interactors

Molecular INTeraction database

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MINTi
P49639

STRING: functional protein association networks

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STRINGi
9606.ENSP00000343246

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P49639

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

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SMRi
P49639

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 – 203Interaction with OGTBy similarityAdd BLAST129

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>Motifi204 – 209Antp-type hexapeptide6

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi65 – 74Poly-His10
Compositional biasi142 – 146Poly-His5
Compositional biasi314 – 317Poly-Ser4

<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 Antp homeobox family. Labial subfamily.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0489 Eukaryota
ENOG410ZTBY LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000247020

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG006089

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P49639

KEGG Orthology (KO)

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KOi
K09301

Database of Orthologous Groups

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OrthoDBi
1216870at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P49639

TreeFam database of animal gene trees

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TreeFami
TF317730

Family and domain databases

Conserved Domains Database

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CDDi
cd00086 homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa

Pfam protein domain database

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

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00024 HOMEOBOX

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00389 HOX, 1 hit

Superfamily database of structural and functional annotation

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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

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3 (identifier: P49639-1) [UniParc]FASTAAdd to basket
Also known as: 36 kDa

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDNARMNSFL EYPILSSGDS GTCSARAYPS DHRITTFQSC AVSANSCGGD
60 70 80 90 100
DRFLVGRGVQ IGSPHHHHHH HHHHPQPATY QTSGNLGVSY SHSSCGPSYG
110 120 130 140 150
SQNFSAPYSP YALNQEADVS GGYPQCAPAV YSGNLSSPMV QHHHHHQGYA
160 170 180 190 200
GGAVGSPQYI HHSYGQEHQS LALATYNNSL SPLHASHQEA CRSPASETSS
210 220 230 240 250
PAQTFDWMKV KRNPPKTGKV GEYGYLGQPN AVRTNFTTKQ LTELEKEFHF
260 270 280 290 300
NKYLTRARRV EIAASLQLNE TQVKIWFQNR RMKQKKREKE GLLPISPATP
310 320 330
PGNDEKAEES SEKSSSSPCV PSPGSSTSDT LTTSH
Length:335
Mass (Da):36,641
Last modified:July 15, 1999 - 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:i3C3A2D0A59A4181C
GO
Isoform 1 (identifier: P49639-2) [UniParc]FASTAAdd to basket
Also known as: 14 kDa

The sequence of this isoform differs from the canonical sequence as follows:
     119-137: VSGGYPQCAPAVYSGNLSS → PPRSLSLPRIGDIFSSADF
     138-335: Missing.

Note: Lacks the homeobox domain.
Show »
Length:137
Mass (Da):14,816
Checksum:i9F0067A9E6AD51DE
GO
Isoform 2 (identifier: P49639-3) [UniParc]FASTAAdd to basket
Also known as: 24 kDa

The sequence of this isoform differs from the canonical sequence as follows:
     219-227: KVGEYGYLG → QSCWLVDAP
     228-335: Missing.

Note: Lacks the homeobox domain.
Show »
Length:227
Mass (Da):24,489
Checksum:i81A54EF51FB0F033
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y4R9A0A2R8Y4R9_HUMAN
Homeobox protein Hox-A1
HOXA1
335Annotation score:

Annotation score:1 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>
E7ERT8E7ERT8_HUMAN
Homeobox protein Hox-A1
HOXA1
137Annotation score:

Annotation score:1 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>

Natural variant

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_01030573H → R Frequent polymorphism in individuals of European or African origin. 2 PublicationsCorresponds to variant dbSNP:rs10951154Ensembl.1
Natural variantiVAR_030576189E → A. Corresponds to variant dbSNP:rs17500494EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_002376119 – 137VSGGY…GNLSS → PPRSLSLPRIGDIFSSADF in isoform 1. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_002377138 – 335Missing in isoform 1. 1 PublicationAdd BLAST198
Alternative sequenceiVSP_002378219 – 227KVGEYGYLG → QSCWLVDAP in isoform 2. 1 Publication9
Alternative sequenceiVSP_002379228 – 335Missing in isoform 2. 1 PublicationAdd BLAST108

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U10421 mRNA Translation: AAA86954.1
AK313514 mRNA Translation: BAG36294.1
AC004079 Genomic DNA Translation: AAS00374.1
CH236948 Genomic DNA Translation: EAL24228.1
CH471073 Genomic DNA Translation: EAW93861.1
BC032547 mRNA Translation: AAH32547.1
U37431 mRNA Translation: AAC50248.1
U37431 mRNA Translation: AAC50249.1
U37431 mRNA Translation: AAC50250.1
S79869 mRNA Translation: AAB35424.2
S79871 mRNA Translation: AAB35425.1
S79910 mRNA Translation: AAB35423.2

The Consensus CDS (CCDS) project

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CCDSi
CCDS5401.1 [P49639-1]
CCDS5402.2 [P49639-2]

Protein sequence database of the Protein Information Resource

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PIRi
G01448

NCBI Reference Sequences

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RefSeqi
NP_005513.1, NM_005522.4 [P49639-1]
NP_705873.2, NM_153620.2 [P49639-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.67397

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000343060; ENSP00000343246; ENSG00000105991

Database of genes from NCBI RefSeq genomes

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GeneIDi
3198

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3198

UCSC genome browser

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UCSCi
uc003sye.4 human [P49639-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
U10421 mRNA Translation: AAA86954.1
AK313514 mRNA Translation: BAG36294.1
AC004079 Genomic DNA Translation: AAS00374.1
CH236948 Genomic DNA Translation: EAL24228.1
CH471073 Genomic DNA Translation: EAW93861.1
BC032547 mRNA Translation: AAH32547.1
U37431 mRNA Translation: AAC50248.1
U37431 mRNA Translation: AAC50249.1
U37431 mRNA Translation: AAC50250.1
S79869 mRNA Translation: AAB35424.2
S79871 mRNA Translation: AAB35425.1
S79910 mRNA Translation: AAB35423.2
CCDSiCCDS5401.1 [P49639-1]
CCDS5402.2 [P49639-2]
PIRiG01448
RefSeqiNP_005513.1, NM_005522.4 [P49639-1]
NP_705873.2, NM_153620.2 [P49639-2]
UniGeneiHs.67397

3D structure databases

ProteinModelPortaliP49639
SMRiP49639
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109438, 70 interactors
ELMiP49639
IntActiP49639, 278 interactors
MINTiP49639
STRINGi9606.ENSP00000343246

PTM databases

iPTMnetiP49639
PhosphoSitePlusiP49639

Polymorphism and mutation databases

BioMutaiHOXA1
DMDMi6166216

Proteomic databases

jPOSTiP49639
PaxDbiP49639
PeptideAtlasiP49639
PRIDEiP49639
ProteomicsDBi56033
56034 [P49639-2]
56035 [P49639-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
3198
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343060; ENSP00000343246; ENSG00000105991
GeneIDi3198
KEGGihsa:3198
UCSCiuc003sye.4 human [P49639-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3198
DisGeNETi3198
EuPathDBiHostDB:ENSG00000105991.7

GeneCards: human genes, protein and diseases

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GeneCardsi
HOXA1
HGNCiHGNC:5099 HOXA1
MalaCardsiHOXA1
MIMi142955 gene
601536 phenotype
neXtProtiNX_P49639
Orphaneti69739 Athabaskan brainstem dysgenesis syndrome
69737 Bosley-Salih-Alorainy syndrome
PharmGKBiPA29376

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0489 Eukaryota
ENOG410ZTBY LUCA
HOGENOMiHOG000247020
HOVERGENiHBG006089
InParanoidiP49639
KOiK09301
OrthoDBi1216870at2759
PhylomeDBiP49639
TreeFamiTF317730

Enzyme and pathway databases

ReactomeiR-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
SIGNORiP49639

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Homeobox_A1

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

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GenomeRNAii
3198

Protein Ontology

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PROi
PR:P49639

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000105991 Expressed in 91 organ(s), highest expression level in embryo
ExpressionAtlasiP49639 baseline and differential
GenevisibleiP49639 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
PRINTSiPR00024 HOMEOBOX
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiHXA1_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: P49639
Secondary accession number(s): A4D184, B2R8U7, O43363
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 15, 1999
Last modified: February 13, 2019
This is version 192 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Vertebrate homeotic Hox proteins
    Nomenclature of vertebrate homeotic Hox proteins and list of entries
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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