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P31270

- HXA11_HUMAN

UniProt

P31270 - HXA11_HUMAN

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Protein

Homeobox protein Hox-A11

Gene

HOXA11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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 bindingi241 – 30060HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. anterior/posterior pattern specification Source: Ensembl
  3. branching involved in ureteric bud morphogenesis Source: UniProtKB
  4. cartilage development involved in endochondral bone morphogenesis Source: UniProtKB
  5. developmental growth Source: UniProtKB
  6. dorsal/ventral pattern formation Source: UniProtKB
  7. embryonic digit morphogenesis Source: Ensembl
  8. embryonic forelimb morphogenesis Source: Ensembl
  9. embryonic limb morphogenesis Source: UniProtKB
  10. embryonic skeletal joint morphogenesis Source: Ensembl
  11. male gonad development Source: Ensembl
  12. mesodermal cell fate specification Source: UniProtKB
  13. metanephros development Source: Ensembl
  14. multicellular organismal development Source: UniProtKB
  15. organ induction Source: Ensembl
  16. positive regulation of cell development Source: UniProtKB
  17. positive regulation of chondrocyte differentiation Source: UniProtKB
  18. positive regulation of transcription, DNA-templated Source: UniProtKB
  19. proximal/distal pattern formation Source: Ensembl
  20. single fertilization Source: Ensembl
  21. skeletal system development Source: UniProtKB
  22. spermatogenesis Source: Ensembl
  23. transcription, DNA-templated Source: UniProtKB-KW
  24. uterus 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

SignaLinkiP31270.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Hox-A11
Alternative name(s):
Homeobox protein Hox-1I
Gene namesi
Name:HOXA11
Synonyms:HOX1I
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:5101. HOXA11.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
  2. protein complex Source: UniProtKB
  3. protein-DNA complex Source: UniProtKB
  4. transcription factor complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

MIMi605432. phenotype.
Orphaneti71289. Radio-ulnar synostosis - amegakaryocytic thrombocytopenia.
PharmGKBiPA29378.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 313313Homeobox protein Hox-A11PRO_0000200095Add
BLAST

Proteomic databases

MaxQBiP31270.
PaxDbiP31270.
PRIDEiP31270.

PTM databases

PhosphoSiteiP31270.

Expressioni

Gene expression databases

BgeeiP31270.
CleanExiHS_HOXA11.
GenevestigatoriP31270.

Organism-specific databases

HPAiHPA035623.

Interactioni

Protein-protein interaction databases

BioGridi109447. 6 interactions.
IntActiP31270. 1 interaction.
STRINGi9606.ENSP00000006015.

Structurei

3D structure databases

ProteinModelPortaliP31270.
SMRiP31270. Positions 241-300.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi177 – 1837Poly-Ala
Compositional biasi195 – 1995Poly-Gly
Compositional biasi204 – 2074Poly-Ala
Compositional biasi212 – 2154Poly-Arg
Compositional biasi218 – 2214Poly-Ser

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG274734.
GeneTreeiENSGT00760000118834.
HOGENOMiHOG000231898.
HOVERGENiHBG052048.
InParanoidiP31270.
KOiK09296.
OMAiLQYYSAN.
PhylomeDBiP31270.
TreeFamiTF350668.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR021918. DUF3528.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF12045. DUF3528. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
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.

P31270-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MDFDERGPCS SNMYLPSCTY YVSGPDFSSL PSFLPQTPSS RPMTYSYSSN
60 70 80 90 100
LPQVQPVREV TFREYAIEPA TKWHPRGNLA HCYSAEELVH RDCLQAPSAA
110 120 130 140 150
GVPGDVLAKS SANVYHHPTP AVSSNFYSTV GRNGVLPQAF DQFFETAYGT
160 170 180 190 200
PENLASSDYP GDKSAEKGPP AATATSAAAA AAATGAPATS SSDSGGGGGC
210 220 230 240 250
RETAAAAEEK ERRRRPESSS SPESSSGHTE DKAGGSSGQR TRKKRCPYTK
260 270 280 290 300
YQIRELEREF FFSVYINKEK RLQLSRMLNL TDRQVKIWFQ NRRMKEKKIN
310
RDRLQYYSAN PLL
Length:313
Mass (Da):34,486
Last modified:February 21, 2001 - v2
Checksum:iB345B987816AB9FB
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS5411.1.
PIRiS14931.
RefSeqiNP_005514.1. NM_005523.5.
UniGeneiHs.249171.

Genome annotation databases

EnsembliENST00000006015; ENSP00000006015; ENSG00000005073.
GeneIDi3207.
KEGGihsa:3207.
UCSCiuc003syx.3. human.

Polymorphism databases

DMDMi13124744.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS5411.1.
PIRi S14931.
RefSeqi NP_005514.1. NM_005523.5.
UniGenei Hs.249171.

3D structure databases

ProteinModelPortali P31270.
SMRi P31270. Positions 241-300.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109447. 6 interactions.
IntActi P31270. 1 interaction.
STRINGi 9606.ENSP00000006015.

PTM databases

PhosphoSitei P31270.

Polymorphism databases

DMDMi 13124744.

Proteomic databases

MaxQBi P31270.
PaxDbi P31270.
PRIDEi P31270.

Protocols and materials databases

DNASUi 3207.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000006015 ; ENSP00000006015 ; ENSG00000005073 .
GeneIDi 3207.
KEGGi hsa:3207.
UCSCi uc003syx.3. human.

Organism-specific databases

CTDi 3207.
GeneCardsi GC07M027220.
HGNCi HGNC:5101. HOXA11.
HPAi HPA035623.
MIMi 142958. gene.
605432. phenotype.
neXtProti NX_P31270.
Orphaneti 71289. Radio-ulnar synostosis - amegakaryocytic thrombocytopenia.
PharmGKBi PA29378.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG274734.
GeneTreei ENSGT00760000118834.
HOGENOMi HOG000231898.
HOVERGENi HBG052048.
InParanoidi P31270.
KOi K09296.
OMAi LQYYSAN.
PhylomeDBi P31270.
TreeFami TF350668.

Enzyme and pathway databases

SignaLinki P31270.

Miscellaneous databases

ChiTaRSi HOXA11. human.
GeneWikii HOXA11.
GenomeRNAii 3207.
NextBioi 12762.
PROi P31270.
SOURCEi Search...

Gene expression databases

Bgeei P31270.
CleanExi HS_HOXA11.
Genevestigatori P31270.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR021918. DUF3528.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF12045. DUF3528. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

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

Entry informationi

Entry nameiHXA11_HUMAN
AccessioniPrimary (citable) accession number: P31270
Secondary accession number(s): A4D190
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: February 21, 2001
Last modified: October 29, 2014
This is version 145 of the entry and version 2 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

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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3