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P31271 (HXA13_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 136. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein Hox-A13
Alternative name(s):
Homeobox protein Hox-1J
Gene names
Name:HOXA13
Synonyms:HOX1J
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length388 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Binds DNA as a homodimer. Interacts with MEIS1, MEIS2 and MEIS3 By similarity. Ref.6

Subcellular location

Nucleus.

Involvement in disease

Hand-foot-genital syndrome (HFG) [MIM:140000]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8

Guttmacher syndrome (GUTTS) [MIM:176305]: Dominantly 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the Abd-B homeobox family.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   DiseaseDisease mutation
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processartery morphogenesis

Inferred from electronic annotation. Source: Ensembl

branching involved in prostate gland morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic forelimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

endothelial cell fate specification

Inferred from electronic annotation. Source: Ensembl

endothelial cell morphogenesis

Inferred from electronic annotation. Source: Ensembl

inner ear development

Inferred from electronic annotation. Source: Ensembl

male genitalia development

Inferred from electronic annotation. Source: Ensembl

positive regulation of mesenchymal cell apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of mitosis

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

regulation of BMP signaling pathway

Inferred from electronic annotation. Source: Ensembl

skeletal system development

Traceable author statement Ref.1. Source: ProtInc

tissue homeostasis

Inferred from electronic annotation. Source: Ensembl

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

vasculogenesis

Inferred from electronic annotation. Source: Ensembl

ventricular septum development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentintermediate filament cytoskeleton

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay. Source: HPA

   Molecular_functionDNA binding

Traceable author statement Ref.1. Source: ProtInc

sequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

transcription regulatory region DNA binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 388388Homeobox protein Hox-A13
PRO_0000200101

Regions

DNA binding322 – 38160Homeobox
Compositional bias38 – 5316Poly-Ala
Compositional bias62 – 665Poly-Ala
Compositional bias73 – 8412Poly-Ala
Compositional bias116 – 13318Poly-Ala
Compositional bias200 – 2078Poly-Ala

Natural variations

Natural variant1251A → AAAAAAA in HFG. Ref.8
VAR_017773
Natural variant1291A → AAAAAAAAA in HFG.
VAR_017774
Natural variant3711Q → L in GUTTS. Ref.9
VAR_017775
Natural variant3721N → H in HFG; severe. Ref.7
VAR_017776

Experimental info

Sequence conflict1461G → A in AAC50993. Ref.1
Sequence conflict1871H → P in AAC50993. Ref.1
Sequence conflict1951A → P in AAC50993. Ref.1
Sequence conflict1981A → P in AAC50993. Ref.1

Secondary structure

......... 388
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P31271 [UniParc].

Last modified October 17, 2006. Version 3.
Checksum: 3512E7622FA931C4

FASTA38839,727
        10         20         30         40         50         60 
MTASVLLHPR WIEPTVMFLY DNGGGLVADE LNKNMEGAAA AAAAAAAAAA AGAGGGGFPH 

        70         80         90        100        110        120 
PAAAAAGGNF SVAAAAAAAA AAAANQCRNL MAHPAPLAPG AASAYSSAPG EAPPSAAAAA 

       130        140        150        160        170        180 
AAAAAAAAAA AAASSSGGPG PAGPAGAEAA KQCSPCSAAA QSSSGPAALP YGYFGSGYYP 

       190        200        210        220        230        240 
CARMGPHPNA IKSCAQPASA AAAAAFADKY MDTAGPAAEE FSSRAKEFAF YHQGYAAGPY 

       250        260        270        280        290        300 
HHHQPMPGYL DMPVVPGLGG PGESRHEPLG LPMESYQPWA LPNGWNGQMY CPKEQAQPPH 

       310        320        330        340        350        360 
LWKSTLPDVV SHPSDASSYR RGRKKRVPYT KVQLKELERE YATNKFITKD KRRRISATTN 

       370        380 
LSERQVTIWF QNRRVKEKKV INKLKTTS 

« Hide

References

« Hide 'large scale' references
[1]"Mutation of HOXA13 in hand-foot-genital syndrome."
Mortlock D.P., Innis J.W.
Nat. Genet. 15:179-180(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The human HOX gene family."
Acampora D., D'Esposito M., Faiella A., Pannese M., Migliaccio E., Morelli F., Stornaiuolo A., Nigro V., Simeone A., Boncinelli E.
Nucleic Acids Res. 17:10385-10402(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 322-387.
[6]"Structural basis for sequence specific DNA binding and protein dimerization of HOXA13."
Zhang Y., Larsen C.A., Stadler H.S., Ames J.B.
PLoS ONE 6:E23069-E23069(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 322-388 IN COMPLEX WITH DNA, SUBUNIT.
[7]"Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome."
Goodman F.R., Bacchelli C., Brady A.F., Brueton L.A., Fryns J.-P., Mortlock D.P., Innis J.W., Holmes L.B., Donnenfeld A.E., Feingold M., Beemer F.A., Hennekam R.C.M., Scambler P.J.
Am. J. Hum. Genet. 67:197-202(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HFG HIS-372 AND ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-129 INS.
[8]"A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?"
Utsch B., Becker K., Brock D., Lentze M.J., Bidlingmaier F., Ludwig M.
Hum. Genet. 110:488-494(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HFG ALA-ALA-ALA-ALA-ALA-ALA-125 INS.
[9]"A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome."
Innis J.W., Goodman F.R., Bacchelli C., Williams T.M., Mortlock D.P., Sateesh P., Scambler P.J., McKinnon W., Guttmacher A.E.
Hum. Mutat. 19:573-574(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GUTTS LEU-371.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U82827 Genomic DNA. Translation: AAC50993.1.
AC004080 Genomic DNA. No translation available.
CH471073 Genomic DNA. Translation: EAW93890.1.
CH236948 Genomic DNA. Translation: EAL24218.1.
PIRS14932.
RefSeqNP_000513.2. NM_000522.4.
UniGeneHs.592172.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2L7ZNMR-A322-388[»]
ProteinModelPortalP31271.
SMRP31271. Positions 322-388.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109449. 1 interaction.
STRING9606.ENSP00000222753.

PTM databases

PhosphoSiteP31271.

Polymorphism databases

DMDM116242513.

Proteomic databases

PaxDbP31271.
PRIDEP31271.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000222753; ENSP00000222753; ENSG00000106031.
GeneID3209.
KEGGhsa:3209.
UCSCuc003szb.1. human.

Organism-specific databases

CTD3209.
GeneCardsGC07M027246.
H-InvDBHIX0201189.
HGNCHGNC:5102. HOXA13.
HPAHPA046098.
MIM140000. phenotype.
142959. gene.
176305. phenotype.
neXtProtNX_P31271.
Orphanet2957. Guttmacher syndrome.
2438. Hand-foot-genital syndrome.
PharmGKBPA29379.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG276440.
HOGENOMHOG000231176.
HOVERGENHBG106958.
InParanoidP31271.
KOK09298.
OMALMAHPAS.
OrthoDBEOG7SJD53.
PhylomeDBP31271.
TreeFamTF330813.

Enzyme and pathway databases

SignaLinkP31271.

Gene expression databases

BgeeP31271.
CleanExHS_HOXA13.
GenevestigatorP31271.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR022067. HoxA13_N.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF12284. HoxA13_N. 2 hits.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiHOXA13.
GenomeRNAi3209.
NextBio12770.
PROP31271.
SOURCESearch...

Entry information

Entry nameHXA13_HUMAN
AccessionPrimary (citable) accession number: P31271
Secondary accession number(s): A4D188, O43371
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 136 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Vertebrate homeotic Hox proteins

Nomenclature of vertebrate homeotic Hox proteins and list of entries