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P31269 (HXA9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 145. 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·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein Hox-A9
Alternative name(s):
Homeobox protein Hox-1G
Gene names
Name:HOXA9
Synonyms:HOX1G
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length272 AA.
Sequence statusComplete.
Protein existenceEvidence at protein 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. Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation. Ref.9

Subunit structure

Transiently interacts with PRMT5 in TNF-alpha stimulated endothelial cells. Ref.9

Subcellular location

Nucleus.

Post-translational modification

Methylated on Arg-140 by PRMT5; methylation is critical for E-selectin induction. Ref.9

Involvement in disease

A chromosomal aberration involving HOXA9 is found in a form of acute myeloid leukemia. Translocation t(7;11)(p15;p15) with NUP98.

A chromosomal aberration involving HOXA9 may contribute to disease progression in chronic myeloid leukemia. Translocation t(7;17)(p15;q23) with MSI2.

Sequence similarities

Belongs to the Abd-B homeobox family.

Contains 1 homeobox DNA-binding domain.

Sequence caution

The sequence AAC50364.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityChromosomal rearrangement
   DiseaseProto-oncogene
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   PTMMethylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanterior/posterior pattern specification

Inferred from electronic annotation. Source: Ensembl

definitive hemopoiesis

Inferred from electronic annotation. Source: Ensembl

embryonic forelimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic skeletal system development

Inferred from electronic annotation. Source: Ensembl

endothelial cell activation

Inferred from mutant phenotype Ref.9. Source: UniProtKB

mammary gland development

Inferred from electronic annotation. Source: Ensembl

multicellular organismal development

Traceable author statement Ref.6. Source: ProtInc

negative regulation of myeloid cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

proximal/distal pattern formation

Inferred from electronic annotation. Source: Ensembl

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from direct assay. Source: LIFEdb

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionenzyme binding

Inferred from physical interaction Ref.9. Source: UniProtKB

sequence-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...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

TRIP6Q156544EBI-742314,EBI-742327

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 272272Homeobox protein Hox-A9
PRO_0000200081

Regions

DNA binding206 – 26560Homeobox

Sites

Site163 – 1642Breakpoint for translocation to form MSI2/HOXA9 fusion protein

Amino acid modifications

Modified residue1401Symmetric dimethylarginine Ref.9

Experimental info

Mutagenesis1401R → A: Results in loss of methylation. Ref.9
Sequence conflict641G → V in AAB40867. Ref.1
Sequence conflict671W → R in AAD08713. Ref.2
Sequence conflict801Missing in AAB40867. Ref.1
Sequence conflict2431L → F in AAB40867. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P31269 [UniParc].

Last modified July 15, 1999. Version 4.
Checksum: 823A1A22BB07A881

FASTA27230,172
        10         20         30         40         50         60 
MATTGALGNY YVDSFLLGAD AADELSVGRY APGTLGQPPR QAATLAEHPD FSPCSFQSKA 

        70         80         90        100        110        120 
TVFGASWNPV HAAGANAVPA AVYHHHHHHP YVHPQAPVAA AAPDGRYMRS WLEPTPGALS 

       130        140        150        160        170        180 
FAGLPSSRPY GIKPEPLSAR RGDCPTLDTH TLSLTDYACG SPPVDREKQP SEGAFSENNA 

       190        200        210        220        230        240 
ENESGGDKPP IDPNNPAANW LHARSTRKKR CPYTKHQTLE LEKEFLFNMY LTRDRRYEVA 

       250        260        270 
RLLNLTERQV KIWFQNRRMK MKKINKDRAK DE 

« Hide

References

« Hide 'large scale' references
[1]Rozenfeld S., Sauvageau G., Largman C.
Submitted (DEC-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Bone marrow.
[2]"Endothelial cells express a novel, tumor necrosis factor-alpha-regulated variant of HOXA9."
Patel C.V., Sharangpani R., Bandyopadhyay S., DiCorleto P.E.
J. Biol. Chem. 274:1415-1422(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"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].
[5]"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: Colon.
[6]"The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9."
Borrow J., Shearman A.M., Stanton V.P., Becher R., Collins T., Williams A.J., Dube I., Katz F., Kwong Y.L., Morris C., Ohyashiki K., Toyama K., Rowley J., Housman D.E.
Nat. Genet. 12:159-167(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 195-272, CHROMOSOMAL TRANSLOCATION WITH NUP98.
[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 206-271.
[8]"A novel gene, MSI2, encoding a putative RNA-binding protein is recurrently rearranged at disease progression of chronic myeloid leukemia and forms a fusion gene with HOXA9 as a result of the cryptic t(7;17)(p15;q23)."
Barbouti A., Hoeglund M., Johansson B., Lassen C., Nilsson P.-G., Hagemeijer A., Mitelman F., Fioretos T.
Cancer Res. 63:1202-1206(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: CHROMOSOMAL TRANSLOCATION WITH MSI2.
[9]"HOXA9 methylation by PRMT5 is essential for endothelial cell expression of leukocyte adhesion molecules."
Bandyopadhyay S., Harris D.P., Adams G.N., Lause G.E., McHugh A., Tillmaand E.G., Money A., Willard B., Fox P.L., Dicorleto P.E.
Mol. Cell. Biol. 32:1202-1213(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH PRMT5, METHYLATION AT ARG-140, MUTAGENESIS OF ARG-140, IDENTIFICATION BY MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U82759 mRNA. Translation: AAB40867.1.
AF010258 Genomic DNA. Translation: AAD08713.1.
BT006990 mRNA. Translation: AAP35636.1.
AC004080 Genomic DNA. No translation available.
BC006537 mRNA. Translation: AAH06537.1.
BC010023 mRNA. Translation: AAH10023.1.
U41813 mRNA. Translation: AAC50364.1. Different initiation.
PIRS14929.
RefSeqNP_689952.1. NM_152739.3.
UniGeneHs.659350.

3D structure databases

ProteinModelPortalP31269.
SMRP31269. Positions 194-270.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109445. 13 interactions.
IntActP31269. 6 interactions.
MINTMINT-2802430.
STRING9606.ENSP00000343619.

PTM databases

PhosphoSiteP31269.

Polymorphism databases

DMDM6166219.

Proteomic databases

PaxDbP31269.
PRIDEP31269.

Protocols and materials databases

DNASU3205.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000343483; ENSP00000343619; ENSG00000078399.
GeneID3205.
KEGGhsa:3205.
UCSCuc003syt.3. human.

Organism-specific databases

CTD3205.
GeneCardsGC07M027230.
HGNCHGNC:5109. HOXA9.
HPAHPA061982.
MIM142956. gene.
neXtProtNX_P31269.
PharmGKBPA29386.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG286554.
HOGENOMHOG000231180.
HOVERGENHBG016849.
InParanoidP31269.
KOK09294.
OMAVPAVYHP.
OrthoDBEOG722J9F.
PhylomeDBP31269.
TreeFamTF317819.

Enzyme and pathway databases

SignaLinkP31269.

Gene expression databases

ArrayExpressP31269.
BgeeP31269.
CleanExHS_HOXA9.
GenevestigatorP31269.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR017112. Homeobox_Hox9.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR006711. Hox9_activation_N.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF04617. Hox9_act. 1 hit.
[Graphical view]
PIRSFPIRSF037109. Homeobox_Hox9. 1 hit.
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

ChiTaRSHOXA9. human.
GeneWikiHOXA9.
GenomeRNAi3205.
NextBio12752.
PROP31269.
SOURCESearch...

Entry information

Entry nameHXA9_HUMAN
AccessionPrimary (citable) accession number: P31269
Secondary accession number(s): O43369, O43429, Q99820
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 15, 1999
Last modified: April 16, 2014
This is version 145 of the entry and version 4 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