UniProtKB - P31271 (HXA13_HUMAN)
Protein
Homeobox protein Hox-A13
Gene
HOXA13
Organism
Homo sapiens (Human)
Status
Functioni
Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 322 – 381 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA binding Source: ProtInc
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- sequence-specific DNA binding Source: NTNU_SB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- skeletal system development Source: ProtInc
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P31271 |
SignaLinki | P31271 |
SIGNORi | P31271 |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein Hox-A13Alternative name(s): Homeobox protein Hox-1J |
Gene namesi | Name:HOXA13 Synonyms:HOX1J |
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
EuPathDBi | HostDB:ENSG00000106031.7 |
HGNCi | HGNC:5102, HOXA13 |
MIMi | 142959, gene |
neXtProti | NX_P31271 |
Subcellular locationi
Nucleus
Cytoskeleton
- intermediate filament cytoskeleton Source: HPA
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleoplasm Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Hand-foot-genital syndrome (HFG)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017773 | 125 | A → AAAAAAA in HFG. 1 Publication | 1 | |
Natural variantiVAR_017774 | 129 | A → AAAAAAAAA in HFG. | 1 | |
Natural variantiVAR_075341 | 368 | I → F in HFG; severe phenotype overlapping with Guttmacher syndrome. 1 Publication | 1 | |
Natural variantiVAR_017776 | 372 | N → H in HFG; severe. 1 PublicationCorresponds to variant dbSNP:rs121912542EnsemblClinVar. | 1 | |
Natural variantiVAR_075342 | 375 | V → F in HFG. 1 Publication | 1 |
Guttmacher syndrome (GUTTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot-genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017775 | 371 | Q → L in GUTTS. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 3209 |
GeneReviewsi | HOXA13 |
MalaCardsi | HOXA13 |
MIMi | 140000, phenotype 176305, phenotype |
OpenTargetsi | ENSG00000106031 |
Orphaneti | 2957, Guttmacher syndrome 2438, Hand-foot-genital syndrome |
PharmGKBi | PA29379 |
Miscellaneous databases
Pharosi | P31271, Tbio |
Polymorphism and mutation databases
BioMutai | HOXA13 |
DMDMi | 116242513 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000200101 | 1 – 388 | Homeobox protein Hox-A13Add BLAST | 388 |
Proteomic databases
EPDi | P31271 |
jPOSTi | P31271 |
MassIVEi | P31271 |
MaxQBi | P31271 |
PaxDbi | P31271 |
PeptideAtlasi | P31271 |
PRIDEi | P31271 |
ProteomicsDBi | 54772 |
PTM databases
iPTMneti | P31271 |
PhosphoSitePlusi | P31271 |
Expressioni
Gene expression databases
Bgeei | ENSG00000106031, Expressed in ectocervix and 61 other tissues |
Genevisiblei | P31271, HS |
Organism-specific databases
HPAi | ENSG00000106031, Tissue enhanced (cervix, uterine, prostate) |
Interactioni
Subunit structurei
Binds DNA as a homodimer.
Interacts with MEIS1, MEIS2 and MEIS3 (By similarity).
By similarityProtein-protein interaction databases
BioGRIDi | 109449, 1 interactor |
IntActi | P31271, 2 interactors |
STRINGi | 9606.ENSP00000222753 |
Miscellaneous databases
RNActi | P31271, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | P31271 |
SMRi | P31271 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 38 – 53 | Poly-AlaAdd BLAST | 16 | |
Compositional biasi | 62 – 66 | Poly-Ala | 5 | |
Compositional biasi | 73 – 84 | Poly-AlaAdd BLAST | 12 | |
Compositional biasi | 116 – 133 | Poly-AlaAdd BLAST | 18 | |
Compositional biasi | 200 – 207 | Poly-Ala | 8 |
Sequence similaritiesi
Belongs to the Abd-B homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0487, Eukaryota |
GeneTreei | ENSGT00940000162322 |
HOGENOMi | CLU_059940_1_0_1 |
InParanoidi | P31271 |
OMAi | KNMEGFP |
OrthoDBi | 1190384at2759 |
PhylomeDBi | P31271 |
TreeFami | TF330813 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR022067, HoxA13_N |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF12284, HoxA13_N, 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 |
i Sequence
Sequence statusi: Complete.
P31271-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MTASVLLHPR WIEPTVMFLY DNGGGLVADE LNKNMEGAAA AAAAAAAAAA
60 70 80 90 100
AGAGGGGFPH PAAAAAGGNF SVAAAAAAAA AAAANQCRNL MAHPAPLAPG
110 120 130 140 150
AASAYSSAPG EAPPSAAAAA AAAAAAAAAA AAASSSGGPG PAGPAGAEAA
160 170 180 190 200
KQCSPCSAAA QSSSGPAALP YGYFGSGYYP CARMGPHPNA IKSCAQPASA
210 220 230 240 250
AAAAAFADKY MDTAGPAAEE FSSRAKEFAF YHQGYAAGPY HHHQPMPGYL
260 270 280 290 300
DMPVVPGLGG PGESRHEPLG LPMESYQPWA LPNGWNGQMY CPKEQAQPPH
310 320 330 340 350
LWKSTLPDVV SHPSDASSYR RGRKKRVPYT KVQLKELERE YATNKFITKD
360 370 380
KRRRISATTN LSERQVTIWF QNRRVKEKKV INKLKTTS
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 146 | G → A in AAC50993 (PubMed:9020844).Curated | 1 | |
Sequence conflicti | 187 | H → P in AAC50993 (PubMed:9020844).Curated | 1 | |
Sequence conflicti | 195 | A → P in AAC50993 (PubMed:9020844).Curated | 1 | |
Sequence conflicti | 198 | A → P in AAC50993 (PubMed:9020844).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017773 | 125 | A → AAAAAAA in HFG. 1 Publication | 1 | |
Natural variantiVAR_017774 | 129 | A → AAAAAAAAA in HFG. | 1 | |
Natural variantiVAR_075341 | 368 | I → F in HFG; severe phenotype overlapping with Guttmacher syndrome. 1 Publication | 1 | |
Natural variantiVAR_017775 | 371 | Q → L in GUTTS. 1 Publication | 1 | |
Natural variantiVAR_017776 | 372 | N → H in HFG; severe. 1 PublicationCorresponds to variant dbSNP:rs121912542EnsemblClinVar. | 1 | |
Natural variantiVAR_075342 | 375 | V → F in HFG. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U82827 Genomic DNA Translation: AAC50993.1 AC004080 Genomic DNA No translation available. CH471073 Genomic DNA Translation: EAW93890.1 CH236948 Genomic DNA Translation: EAL24218.1 |
CCDSi | CCDS5412.1 |
PIRi | S14932 |
RefSeqi | NP_000513.2, NM_000522.4 |
Genome annotation databases
Ensembli | ENST00000649031; ENSP00000497112; ENSG00000106031 |
GeneIDi | 3209 |
KEGGi | hsa:3209 |
UCSCi | uc003szb.2, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U82827 Genomic DNA Translation: AAC50993.1 AC004080 Genomic DNA No translation available. CH471073 Genomic DNA Translation: EAW93890.1 CH236948 Genomic DNA Translation: EAL24218.1 |
CCDSi | CCDS5412.1 |
PIRi | S14932 |
RefSeqi | NP_000513.2, NM_000522.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2L7Z | NMR | - | A | 322-388 | [»] | |
BMRBi | P31271 | |||||
SMRi | P31271 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109449, 1 interactor |
IntActi | P31271, 2 interactors |
STRINGi | 9606.ENSP00000222753 |
PTM databases
iPTMneti | P31271 |
PhosphoSitePlusi | P31271 |
Polymorphism and mutation databases
BioMutai | HOXA13 |
DMDMi | 116242513 |
Proteomic databases
EPDi | P31271 |
jPOSTi | P31271 |
MassIVEi | P31271 |
MaxQBi | P31271 |
PaxDbi | P31271 |
PeptideAtlasi | P31271 |
PRIDEi | P31271 |
ProteomicsDBi | 54772 |
Protocols and materials databases
Antibodypediai | 12410, 144 antibodies |
Genome annotation databases
Ensembli | ENST00000649031; ENSP00000497112; ENSG00000106031 |
GeneIDi | 3209 |
KEGGi | hsa:3209 |
UCSCi | uc003szb.2, human |
Organism-specific databases
CTDi | 3209 |
DisGeNETi | 3209 |
EuPathDBi | HostDB:ENSG00000106031.7 |
GeneCardsi | HOXA13 |
GeneReviewsi | HOXA13 |
HGNCi | HGNC:5102, HOXA13 |
HPAi | ENSG00000106031, Tissue enhanced (cervix, uterine, prostate) |
MalaCardsi | HOXA13 |
MIMi | 140000, phenotype 142959, gene 176305, phenotype |
neXtProti | NX_P31271 |
OpenTargetsi | ENSG00000106031 |
Orphaneti | 2957, Guttmacher syndrome 2438, Hand-foot-genital syndrome |
PharmGKBi | PA29379 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0487, Eukaryota |
GeneTreei | ENSGT00940000162322 |
HOGENOMi | CLU_059940_1_0_1 |
InParanoidi | P31271 |
OMAi | KNMEGFP |
OrthoDBi | 1190384at2759 |
PhylomeDBi | P31271 |
TreeFami | TF330813 |
Enzyme and pathway databases
PathwayCommonsi | P31271 |
SignaLinki | P31271 |
SIGNORi | P31271 |
Miscellaneous databases
BioGRID-ORCSi | 3209, 46 hits in 867 CRISPR screens |
GeneWikii | HOXA13 |
GenomeRNAii | 3209 |
Pharosi | P31271, Tbio |
PROi | PR:P31271 |
RNActi | P31271, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000106031, Expressed in ectocervix and 61 other tissues |
Genevisiblei | P31271, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR022067, HoxA13_N |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF12284, HoxA13_N, 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 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HXA13_HUMAN | |
Accessioni | P31271Primary (citable) accession number: P31271 Secondary accession number(s): A4D188, O43371 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1993 |
Last sequence update: | October 17, 2006 | |
Last modified: | December 2, 2020 | |
This is version 193 of the entry and version 3 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 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - 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 - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Vertebrate homeotic Hox proteins
Nomenclature of vertebrate homeotic Hox proteins and list of entries