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Protein

Homeobox protein Hox-A13

Gene

HOXA13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi322 – 381HomeoboxPROSITE-ProRule annotationAdd BLAST60

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

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

SignaLinkiP31271
SIGNORiP31271

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Hox-A13
Alternative name(s):
Homeobox protein Hox-1J
Gene namesi
Name:HOXA13
Synonyms:HOX1J
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106031.7
HGNCiHGNC:5102 HOXA13
MIMi142959 gene
neXtProtiNX_P31271

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & 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.
See also OMIM:140000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017773125A → AAAAAAA in HFG. 1 Publication1
Natural variantiVAR_017774129A → AAAAAAAAA in HFG. 1
Natural variantiVAR_075341368I → F in HFG; severe phenotype overlapping with Guttmacher syndrome. 1 Publication1
Natural variantiVAR_017776372N → H in HFG; severe. 1 PublicationCorresponds to variant dbSNP:rs121912542EnsemblClinVar.1
Natural variantiVAR_075342375V → F in HFG. 1 Publication1
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.
See also OMIM:176305
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017775371Q → L in GUTTS. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3209
GeneReviewsiHOXA13
MalaCardsiHOXA13
MIMi140000 phenotype
176305 phenotype
OpenTargetsiENSG00000106031
Orphaneti2957 Guttmacher syndrome
2438 Hand-foot-genital syndrome
PharmGKBiPA29379

Polymorphism and mutation databases

BioMutaiHOXA13
DMDMi116242513

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002001011 – 388Homeobox protein Hox-A13Add BLAST388

Proteomic databases

EPDiP31271
MaxQBiP31271
PaxDbiP31271
PeptideAtlasiP31271
PRIDEiP31271
ProteomicsDBi54772

PTM databases

iPTMnetiP31271
PhosphoSitePlusiP31271

Expressioni

Gene expression databases

BgeeiENSG00000106031 Expressed in 51 organ(s), highest expression level in ectocervix
CleanExiHS_HOXA13
GenevisibleiP31271 HS

Interactioni

Subunit structurei

Binds DNA as a homodimer. Interacts with MEIS1, MEIS2 and MEIS3 (By similarity).By similarity

Protein-protein interaction databases

IntActiP31271, 2 interactors
STRINGi9606.ENSP00000222753

Structurei

Secondary structure

1388
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP31271
SMRiP31271
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi38 – 53Poly-AlaAdd BLAST16
Compositional biasi62 – 66Poly-Ala5
Compositional biasi73 – 84Poly-AlaAdd BLAST12
Compositional biasi116 – 133Poly-AlaAdd BLAST18
Compositional biasi200 – 207Poly-Ala8

Sequence similaritiesi

Belongs to the Abd-B homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0487 Eukaryota
ENOG4111FJP LUCA
GeneTreeiENSGT00910000143984
HOGENOMiHOG000231176
HOVERGENiHBG106958
InParanoidiP31271
KOiK09298
OMAiYAPGPYH
OrthoDBiEOG091G0E5Q
PhylomeDBiP31271
TreeFamiTF330813

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR022067 HoxA13_N
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF12284 HoxA13_N, 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

Sequencei

Sequence statusi: Complete.

P31271-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:388
Mass (Da):39,727
Last modified:October 17, 2006 - v3
Checksum:i3512E7622FA931C4
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti146G → A in AAC50993 (PubMed:9020844).Curated1
Sequence conflicti187H → P in AAC50993 (PubMed:9020844).Curated1
Sequence conflicti195A → P in AAC50993 (PubMed:9020844).Curated1
Sequence conflicti198A → P in AAC50993 (PubMed:9020844).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017773125A → AAAAAAA in HFG. 1 Publication1
Natural variantiVAR_017774129A → AAAAAAAAA in HFG. 1
Natural variantiVAR_075341368I → F in HFG; severe phenotype overlapping with Guttmacher syndrome. 1 Publication1
Natural variantiVAR_017775371Q → L in GUTTS. 1 Publication1
Natural variantiVAR_017776372N → H in HFG; severe. 1 PublicationCorresponds to variant dbSNP:rs121912542EnsemblClinVar.1
Natural variantiVAR_075342375V → F in HFG. 1 Publication1

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
CCDSiCCDS5412.1
PIRiS14932
RefSeqiNP_000513.2, NM_000522.4
UniGeneiHs.592172

Genome annotation databases

EnsembliENST00000222753; ENSP00000222753; ENSG00000106031
GeneIDi3209
KEGGihsa:3209
UCSCiuc003szb.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
CCDSiCCDS5412.1
PIRiS14932
RefSeqiNP_000513.2, NM_000522.4
UniGeneiHs.592172

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L7ZNMR-A322-388[»]
ProteinModelPortaliP31271
SMRiP31271
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiP31271, 2 interactors
STRINGi9606.ENSP00000222753

PTM databases

iPTMnetiP31271
PhosphoSitePlusiP31271

Polymorphism and mutation databases

BioMutaiHOXA13
DMDMi116242513

Proteomic databases

EPDiP31271
MaxQBiP31271
PaxDbiP31271
PeptideAtlasiP31271
PRIDEiP31271
ProteomicsDBi54772

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000222753; ENSP00000222753; ENSG00000106031
GeneIDi3209
KEGGihsa:3209
UCSCiuc003szb.2 human

Organism-specific databases

CTDi3209
DisGeNETi3209
EuPathDBiHostDB:ENSG00000106031.7
GeneCardsiHOXA13
GeneReviewsiHOXA13
H-InvDBiHIX0201189
HGNCiHGNC:5102 HOXA13
MalaCardsiHOXA13
MIMi140000 phenotype
142959 gene
176305 phenotype
neXtProtiNX_P31271
OpenTargetsiENSG00000106031
Orphaneti2957 Guttmacher syndrome
2438 Hand-foot-genital syndrome
PharmGKBiPA29379
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0487 Eukaryota
ENOG4111FJP LUCA
GeneTreeiENSGT00910000143984
HOGENOMiHOG000231176
HOVERGENiHBG106958
InParanoidiP31271
KOiK09298
OMAiYAPGPYH
OrthoDBiEOG091G0E5Q
PhylomeDBiP31271
TreeFamiTF330813

Enzyme and pathway databases

SignaLinkiP31271
SIGNORiP31271

Miscellaneous databases

GeneWikiiHOXA13
GenomeRNAii3209
PROiPR:P31271
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106031 Expressed in 51 organ(s), highest expression level in ectocervix
CleanExiHS_HOXA13
GenevisibleiP31271 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR022067 HoxA13_N
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF12284 HoxA13_N, 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
ProtoNetiSearch...

Entry informationi

Entry nameiHXA13_HUMAN
AccessioniPrimary (citable) accession number: P31271
Secondary accession number(s): A4D188, O43371
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 179 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Vertebrate homeotic Hox proteins
    Nomenclature of vertebrate homeotic Hox proteins and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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