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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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi322 – 38160HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: ProtInc
  2. sequence-specific DNA binding Source: InterPro
  3. sequence-specific DNA binding transcription factor activity Source: Ensembl
  4. transcription regulatory region DNA binding Source: Ensembl

GO - Biological processi

  1. artery morphogenesis Source: Ensembl
  2. branching involved in prostate gland morphogenesis Source: Ensembl
  3. embryonic forelimb morphogenesis Source: Ensembl
  4. endothelial cell fate specification Source: Ensembl
  5. endothelial cell morphogenesis Source: Ensembl
  6. inner ear development Source: Ensembl
  7. male genitalia development Source: Ensembl
  8. positive regulation of mesenchymal cell apoptotic process Source: Ensembl
  9. positive regulation of mitosis Source: Ensembl
  10. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  11. regulation of BMP signaling pathway Source: Ensembl
  12. skeletal system development Source: ProtInc
  13. tissue homeostasis Source: Ensembl
  14. transcription, DNA-templated Source: UniProtKB-KW
  15. vasculogenesis Source: Ensembl
  16. ventricular septum development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiP31271.

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
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:5102. HOXA13.

Subcellular locationi

GO - Cellular componenti

  1. intermediate filament cytoskeleton Source: HPA
  2. nucleoplasm Source: HPA
  3. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hand-foot-genital syndrome2 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 1251A → AAAAAAA in HFG. 1 Publication
VAR_017773
Natural varianti129 – 1291A → AAAAAAAAA in HFG.
VAR_017774
Natural varianti372 – 3721N → H in HFG; severe. 1 Publication
VAR_017776
Guttmacher syndrome1 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti371 – 3711Q → L in GUTTS. 1 Publication
VAR_017775

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi140000. phenotype.
176305. phenotype.
Orphaneti2957. Guttmacher syndrome.
2438. Hand-foot-genital syndrome.
PharmGKBiPA29379.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 388388Homeobox protein Hox-A13PRO_0000200101Add
BLAST

Proteomic databases

MaxQBiP31271.
PaxDbiP31271.
PRIDEiP31271.

PTM databases

PhosphoSiteiP31271.

Expressioni

Gene expression databases

BgeeiP31271.
CleanExiHS_HOXA13.
GenevestigatoriP31271.

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

BioGridi109449. 1 interaction.
STRINGi9606.ENSP00000222753.

Structurei

Secondary structure

1
388
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi331 – 34313Combined sources
Helixi349 – 35911Combined sources
Helixi364 – 37714Combined sources
Beta strandi380 – 3856Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2L7ZNMR-A322-388[»]
ProteinModelPortaliP31271.
SMRiP31271. Positions 322-388.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi38 – 5316Poly-AlaAdd
BLAST
Compositional biasi62 – 665Poly-Ala
Compositional biasi73 – 8412Poly-AlaAdd
BLAST
Compositional biasi116 – 13318Poly-AlaAdd
BLAST
Compositional biasi200 – 2078Poly-Ala

Sequence similaritiesi

Belongs to the Abd-B homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG276440.
GeneTreeiENSGT00760000118834.
HOGENOMiHOG000231176.
HOVERGENiHBG106958.
InParanoidiP31271.
KOiK09298.
OMAiPGHMWKS.
OrthoDBiEOG7SJD53.
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. 2 hits.
[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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti146 – 1461G → A in AAC50993. (PubMed:9020844)Curated
Sequence conflicti187 – 1871H → P in AAC50993. (PubMed:9020844)Curated
Sequence conflicti195 – 1951A → P in AAC50993. (PubMed:9020844)Curated
Sequence conflicti198 – 1981A → P in AAC50993. (PubMed:9020844)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 1251A → AAAAAAA in HFG. 1 Publication
VAR_017773
Natural varianti129 – 1291A → AAAAAAAAA in HFG.
VAR_017774
Natural varianti371 – 3711Q → L in GUTTS. 1 Publication
VAR_017775
Natural varianti372 – 3721N → H in HFG; severe. 1 Publication
VAR_017776

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.1. human.

Polymorphism databases

DMDMi116242513.

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
EntryMethodResolution (Å)ChainPositionsPDBsum
2L7ZNMR-A322-388[»]
ProteinModelPortaliP31271.
SMRiP31271. Positions 322-388.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109449. 1 interaction.
STRINGi9606.ENSP00000222753.

PTM databases

PhosphoSiteiP31271.

Polymorphism databases

DMDMi116242513.

Proteomic databases

MaxQBiP31271.
PaxDbiP31271.
PRIDEiP31271.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000222753; ENSP00000222753; ENSG00000106031.
GeneIDi3209.
KEGGihsa:3209.
UCSCiuc003szb.1. human.

Organism-specific databases

CTDi3209.
GeneCardsiGC07M027256.
GeneReviewsiHOXA13.
H-InvDBHIX0201189.
HGNCiHGNC:5102. HOXA13.
HPAiHPA046098.
MIMi140000. phenotype.
142959. gene.
176305. phenotype.
neXtProtiNX_P31271.
Orphaneti2957. Guttmacher syndrome.
2438. Hand-foot-genital syndrome.
PharmGKBiPA29379.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG276440.
GeneTreeiENSGT00760000118834.
HOGENOMiHOG000231176.
HOVERGENiHBG106958.
InParanoidiP31271.
KOiK09298.
OMAiPGHMWKS.
OrthoDBiEOG7SJD53.
PhylomeDBiP31271.
TreeFamiTF330813.

Enzyme and pathway databases

SignaLinkiP31271.

Miscellaneous databases

GeneWikiiHOXA13.
GenomeRNAii3209.
NextBioi12770.
PROiP31271.
SOURCEiSearch...

Gene expression databases

BgeeiP31271.
CleanExiHS_HOXA13.
GenevestigatoriP31271.

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. 2 hits.
[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...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.
    , 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. 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. 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.

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: February 4, 2015
This is version 144 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

External Data

Dasty 3

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 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.