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Protein

Homeobox protein Hox-A11

Gene

HOXA11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi241 – 300HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiP31270
SIGNORiP31270

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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000005073.5
HGNCiHGNC:5101 HOXA11
MIMi142958 gene
neXtProtiNX_P31270

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (RUSAT1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe 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.
See also OMIM:605432

Organism-specific databases

DisGeNETi3207
MalaCardsiHOXA11
MIMi605432 phenotype
OpenTargetsiENSG00000005073
Orphaneti71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
PharmGKBiPA29378

Polymorphism and mutation databases

BioMutaiHOXA11
DMDMi13124744

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002000951 – 313Homeobox protein Hox-A11Add BLAST313

Proteomic databases

MaxQBiP31270
PaxDbiP31270
PeptideAtlasiP31270
PRIDEiP31270
ProteomicsDBi54771

PTM databases

iPTMnetiP31270
PhosphoSitePlusiP31270

Expressioni

Gene expression databases

BgeeiENSG00000005073 Expressed in 68 organ(s), highest expression level in myometrium
CleanExiHS_HOXA11
ExpressionAtlasiP31270 baseline and differential
GenevisibleiP31270 HS

Organism-specific databases

HPAiHPA006770
HPA035623

Interactioni

Protein-protein interaction databases

BioGridi109447, 5 interactors
IntActiP31270, 1 interactor
STRINGi9606.ENSP00000006015

Structurei

3D structure databases

ProteinModelPortaliP31270
SMRiP31270
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi177 – 183Poly-Ala7
Compositional biasi195 – 199Poly-Gly5
Compositional biasi204 – 207Poly-Ala4
Compositional biasi212 – 215Poly-Arg4
Compositional biasi218 – 221Poly-Ser4

Sequence similaritiesi

Belongs to the Abd-B homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0487 Eukaryota
ENOG4111FJP LUCA
GeneTreeiENSGT00910000143984
HOGENOMiHOG000231898
HOVERGENiHBG052048
InParanoidiP31270
KOiK21951
OMAiYETAYGN
OrthoDBiEOG091G0DZB
PhylomeDBiP31270
TreeFamiTF350668

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR021918 DUF3528
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
PfamiView protein in Pfam
PF12045 DUF3528, 1 hit
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YIA6H0YIA6_HUMAN
Homeobox protein Hox-A11
HOXA11
283Annotation score:

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4 human

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliP31270
SMRiP31270
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109447, 5 interactors
IntActiP31270, 1 interactor
STRINGi9606.ENSP00000006015

PTM databases

iPTMnetiP31270
PhosphoSitePlusiP31270

Polymorphism and mutation databases

BioMutaiHOXA11
DMDMi13124744

Proteomic databases

MaxQBiP31270
PaxDbiP31270
PeptideAtlasiP31270
PRIDEiP31270
ProteomicsDBi54771

Protocols and materials databases

DNASUi3207
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000006015; ENSP00000006015; ENSG00000005073
GeneIDi3207
KEGGihsa:3207
UCSCiuc003syx.4 human

Organism-specific databases

CTDi3207
DisGeNETi3207
EuPathDBiHostDB:ENSG00000005073.5
GeneCardsiHOXA11
HGNCiHGNC:5101 HOXA11
HPAiHPA006770
HPA035623
MalaCardsiHOXA11
MIMi142958 gene
605432 phenotype
neXtProtiNX_P31270
OpenTargetsiENSG00000005073
Orphaneti71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
PharmGKBiPA29378
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0487 Eukaryota
ENOG4111FJP LUCA
GeneTreeiENSGT00910000143984
HOGENOMiHOG000231898
HOVERGENiHBG052048
InParanoidiP31270
KOiK21951
OMAiYETAYGN
OrthoDBiEOG091G0DZB
PhylomeDBiP31270
TreeFamiTF350668

Enzyme and pathway databases

SignaLinkiP31270
SIGNORiP31270

Miscellaneous databases

GeneWikiiHOXA11
GenomeRNAii3207
PROiPR:P31270
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000005073 Expressed in 68 organ(s), highest expression level in myometrium
CleanExiHS_HOXA11
ExpressionAtlasiP31270 baseline and differential
GenevisibleiP31270 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR021918 DUF3528
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
PfamiView protein in Pfam
PF12045 DUF3528, 1 hit
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHXA11_HUMAN
AccessioniPrimary (citable) accession number: P31270
Secondary accession number(s): A4D190
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: February 21, 2001
Last modified: November 7, 2018
This is version 176 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Vertebrate homeotic Hox proteins
    Nomenclature of vertebrate homeotic Hox proteins and list of entries
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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