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P31270 (HXA11_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 143. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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-A11
Alternative name(s):
Homeobox protein Hox-1I
Gene names
Name:HOXA11
Synonyms:HOX1I
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length313 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Subcellular location

Nucleus.

Involvement in disease

Radioulnar synostosis with amegakaryocytic thrombocytopenia (RSAT) [MIM:605432]: The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the Abd-B homeobox family.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanatomical structure morphogenesis

Traceable author statement Ref.1. Source: ProtInc

anterior/posterior pattern specification

Inferred from electronic annotation. Source: Ensembl

branching involved in ureteric bud morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

cartilage development involved in endochondral bone morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

developmental growth

Inferred from sequence or structural similarity. Source: UniProtKB

dorsal/ventral pattern formation

Inferred from sequence or structural similarity. Source: UniProtKB

embryonic digit morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic forelimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic limb morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

embryonic skeletal joint morphogenesis

Inferred from electronic annotation. Source: Ensembl

mesodermal cell fate specification

Inferred from sequence or structural similarity. Source: UniProtKB

metanephros development

Inferred from electronic annotation. Source: Ensembl

multicellular organismal development

Inferred from sequence or structural similarity. Source: UniProtKB

organ induction

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell development

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of chondrocyte differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

proximal/distal pattern formation

Inferred from electronic annotation. Source: Ensembl

skeletal system development

Inferred from sequence or structural similarity. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

protein complex

Inferred from sequence or structural similarity. Source: UniProtKB

protein-DNA complex

Inferred from sequence or structural similarity. Source: UniProtKB

transcription factor complex

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionsequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 313313Homeobox protein Hox-A11
PRO_0000200095

Regions

DNA binding241 – 30060Homeobox
Compositional bias177 – 1837Poly-Ala
Compositional bias195 – 1995Poly-Gly
Compositional bias204 – 2074Poly-Ala
Compositional bias212 – 2154Poly-Arg
Compositional bias218 – 2214Poly-Ser

Sequences

Sequence LengthMass (Da)Tools
P31270 [UniParc].

Last modified February 21, 2001. Version 2.
Checksum: B345B987816AB9FB

FASTA31334,486
        10         20         30         40         50         60 
MDFDERGPCS SNMYLPSCTY YVSGPDFSSL PSFLPQTPSS RPMTYSYSSN LPQVQPVREV 

        70         80         90        100        110        120 
TFREYAIEPA TKWHPRGNLA HCYSAEELVH RDCLQAPSAA GVPGDVLAKS SANVYHHPTP 

       130        140        150        160        170        180 
AVSSNFYSTV GRNGVLPQAF DQFFETAYGT PENLASSDYP GDKSAEKGPP AATATSAAAA 

       190        200        210        220        230        240 
AAATGAPATS SSDSGGGGGC RETAAAAEEK ERRRRPESSS SPESSSGHTE DKAGGSSGQR 

       250        260        270        280        290        300 
TRKKRCPYTK YQIRELEREF FFSVYINKEK RLQLSRMLNL TDRQVKIWFQ NRRMKEKKIN 

       310 
RDRLQYYSAN PLL 

« Hide

References

« Hide 'large scale' references
[1]"Evolutionary conservation and tissue-specific processing of hoxa 11 antisense transcripts."
Potter S.S., Branford W.W.
Mamm. Genome 9:799-806(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]Mi X., Winters J.L., Stevens D.B., Fleischman R.A.
Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"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].
[4]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].
[5]"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].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Ovary.
[7]"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 OF 241-306.
[8]"Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation."
Thompson A.A., Nguyen L.T.
Nat. Genet. 26:397-398(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RSAT.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF071164 Genomic DNA. Translation: AAC80455.1.
AF039307 Genomic DNA. Translation: AAB94761.1.
AC004080 Genomic DNA. No translation available.
CH236948 Genomic DNA. Translation: EAL24220.1.
CH471073 Genomic DNA. Translation: EAW93888.1.
BC040948 mRNA. Translation: AAH40948.1.
CCDSCCDS5411.1.
PIRS14931.
RefSeqNP_005514.1. NM_005523.5.
UniGeneHs.249171.

3D structure databases

ProteinModelPortalP31270.
SMRP31270. Positions 241-300.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109447. 6 interactions.
IntActP31270. 1 interaction.
STRING9606.ENSP00000006015.

PTM databases

PhosphoSiteP31270.

Polymorphism databases

DMDM13124744.

Proteomic databases

MaxQBP31270.
PaxDbP31270.
PRIDEP31270.

Protocols and materials databases

DNASU3207.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000006015; ENSP00000006015; ENSG00000005073.
GeneID3207.
KEGGhsa:3207.
UCSCuc003syx.3. human.

Organism-specific databases

CTD3207.
GeneCardsGC07M027220.
HGNCHGNC:5101. HOXA11.
HPAHPA035623.
MIM142958. gene.
605432. phenotype.
neXtProtNX_P31270.
Orphanet71289. Radio-ulnar synostosis - amegakaryocytic thrombocytopenia.
PharmGKBPA29378.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG274734.
HOGENOMHOG000231898.
HOVERGENHBG052048.
InParanoidP31270.
KOK09296.
OMALQYYSAN.
PhylomeDBP31270.
TreeFamTF350668.

Enzyme and pathway databases

SignaLinkP31270.

Gene expression databases

BgeeP31270.
CleanExHS_HOXA11.
GenevestigatorP31270.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR021918. DUF3528.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF12045. DUF3528. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHOXA11. human.
GeneWikiHOXA11.
GenomeRNAi3207.
NextBio12762.
PROP31270.
SOURCESearch...

Entry information

Entry nameHXA11_HUMAN
AccessionPrimary (citable) accession number: P31270
Secondary accession number(s): A4D190
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: February 21, 2001
Last modified: July 9, 2014
This is version 143 of the entry and version 2 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

MIM cross-references

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

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