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Protein

Homeobox protein Hox-A13

Gene

HOXA13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • sequence-specific DNA binding Source: InterPro

GO - Biological processi

  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • skeletal system development Source: ProtInc
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000106031-MONOMER.
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

HGNCiHGNC:5102. HOXA13.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs121912542dbSNPEnsembl.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.
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.

PTM databases

iPTMnetiP31271.
PhosphoSitePlusiP31271.

Expressioni

Gene expression databases

BgeeiENSG00000106031.
CleanExiHS_HOXA13.
GenevisibleiP31271. HS.

Organism-specific databases

HPAiHPA046098.

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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi331 – 343Combined sources13
Helixi349 – 359Combined sources11
Helixi364 – 377Combined sources14
Beta strandi380 – 385Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L7ZNMR-A322-388[»]
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
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0487. Eukaryota.
ENOG4111FJP. LUCA.
GeneTreeiENSGT00760000118834.
HOGENOMiHOG000231176.
HOVERGENiHBG106958.
InParanoidiP31271.
KOiK09298.
OMAiLMAHPAS.
OrthoDBiEOG091G0E5Q.
PhylomeDBiP31271.
TreeFamiTF330813.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR022067. HoxA13_N.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF12284. HoxA13_N. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

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 rs121912542dbSNPEnsembl.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.

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.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi3209.
DisGeNETi3209.
GeneCardsiHOXA13.
GeneReviewsiHOXA13.
H-InvDBHIX0201189.
HGNCiHGNC:5102. HOXA13.
HPAiHPA046098.
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.
GeneTreeiENSGT00760000118834.
HOGENOMiHOG000231176.
HOVERGENiHBG106958.
InParanoidiP31271.
KOiK09298.
OMAiLMAHPAS.
OrthoDBiEOG091G0E5Q.
PhylomeDBiP31271.
TreeFamiTF330813.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000106031-MONOMER.
SignaLinkiP31271.
SIGNORiP31271.

Miscellaneous databases

GeneWikiiHOXA13.
GenomeRNAii3209.
PROiP31271.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106031.
CleanExiHS_HOXA13.
GenevisibleiP31271. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR022067. HoxA13_N.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF12284. HoxA13_N. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHXA13_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 164 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Vertebrate homeotic Hox proteins
    Nomenclature of vertebrate homeotic Hox proteins and list of entries
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  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. 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.