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Protein

Homeobox protein Hox-A9

Gene

HOXA9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein 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. Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei163 – 1642Breakpoint for translocation to form MSI2/HOXA9 fusion protein

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi206 – 26560HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. enzyme binding Source: UniProtKB
  2. sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. anterior/posterior pattern specification Source: Ensembl
  2. definitive hemopoiesis Source: Ensembl
  3. embryonic forelimb morphogenesis Source: Ensembl
  4. embryonic skeletal system development Source: Ensembl
  5. endothelial cell activation Source: UniProtKB
  6. male gonad development Source: Ensembl
  7. mammary gland development Source: Ensembl
  8. multicellular organismal development Source: ProtInc
  9. negative regulation of myeloid cell differentiation Source: UniProtKB
  10. proximal/distal pattern formation Source: Ensembl
  11. regulation of transcription, DNA-templated Source: UniProtKB-KW
  12. single fertilization Source: Ensembl
  13. spermatogenesis Source: Ensembl
  14. transcription, DNA-templated Source: UniProtKB-KW
  15. 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

SignaLinkiP31269.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Hox-A9
Alternative name(s):
Homeobox protein Hox-1G
Gene namesi
Name:HOXA9
Synonyms:HOX1G
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:5109. HOXA9.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. nucleoplasm Source: HPA
  3. nucleus Source: LIFEdb
  4. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi140 – 1401R → A: Results in loss of methylation. 1 Publication

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

PharmGKBiPA29386.

Polymorphism and mutation databases

BioMutaiHOXA9.
DMDMi6166219.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 272272Homeobox protein Hox-A9PRO_0000200081Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei140 – 1401Symmetric dimethylarginine1 Publication

Post-translational modificationi

Methylated on Arg-140 by PRMT5; methylation is critical for E-selectin induction.1 Publication

Keywords - PTMi

Methylation

Proteomic databases

PaxDbiP31269.
PRIDEiP31269.

PTM databases

PhosphoSiteiP31269.

Expressioni

Gene expression databases

BgeeiP31269.
CleanExiHS_HOXA9.
ExpressionAtlasiP31269. baseline and differential.
GenevestigatoriP31269.

Organism-specific databases

HPAiHPA061982.

Interactioni

Subunit structurei

Transiently interacts with PRMT5 in TNF-alpha stimulated endothelial cells.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TRIP6Q156544EBI-742314,EBI-742327

Protein-protein interaction databases

BioGridi109445. 12 interactions.
IntActiP31269. 6 interactions.
MINTiMINT-2802430.
STRINGi9606.ENSP00000343619.

Structurei

3D structure databases

ProteinModelPortaliP31269.
SMRiP31269. Positions 194-270.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG286554.
GeneTreeiENSGT00760000118834.
HOGENOMiHOG000231180.
HOVERGENiHBG016849.
InParanoidiP31269.
KOiK09294.
OMAiVPAVYHP.
OrthoDBiEOG722J9F.
PhylomeDBiP31269.
TreeFamiTF317819.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR017112. Homeobox_Hox9.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR006711. Hox9_activation_N.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF04617. Hox9_act. 1 hit.
[Graphical view]
PIRSFiPIRSF037109. Homeobox_Hox9. 1 hit.
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.

P31269-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATTGALGNY YVDSFLLGAD AADELSVGRY APGTLGQPPR QAATLAEHPD
60 70 80 90 100
FSPCSFQSKA TVFGASWNPV HAAGANAVPA AVYHHHHHHP YVHPQAPVAA
110 120 130 140 150
AAPDGRYMRS WLEPTPGALS FAGLPSSRPY GIKPEPLSAR RGDCPTLDTH
160 170 180 190 200
TLSLTDYACG SPPVDREKQP SEGAFSENNA ENESGGDKPP IDPNNPAANW
210 220 230 240 250
LHARSTRKKR CPYTKHQTLE LEKEFLFNMY LTRDRRYEVA RLLNLTERQV
260 270
KIWFQNRRMK MKKINKDRAK DE
Length:272
Mass (Da):30,172
Last modified:July 15, 1999 - v4
Checksum:i823A1A22BB07A881
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti64 – 641G → V in AAB40867 (Ref. 1) Curated
Sequence conflicti67 – 671W → R in AAD08713 (PubMed:9880515).Curated
Sequence conflicti80 – 801Missing in AAB40867 (Ref. 1) Curated
Sequence conflicti243 – 2431L → F in AAB40867 (Ref. 1) Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS5409.1.
PIRiS14929.
RefSeqiNP_689952.1. NM_152739.3.
UniGeneiHs.659350.

Genome annotation databases

EnsembliENST00000343483; ENSP00000343619; ENSG00000078399.
GeneIDi3205.
KEGGihsa:3205.
UCSCiuc003syt.3. human.

Polymorphism and mutation databases

BioMutaiHOXA9.

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS5409.1.
PIRiS14929.
RefSeqiNP_689952.1. NM_152739.3.
UniGeneiHs.659350.

3D structure databases

ProteinModelPortaliP31269.
SMRiP31269. Positions 194-270.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109445. 12 interactions.
IntActiP31269. 6 interactions.
MINTiMINT-2802430.
STRINGi9606.ENSP00000343619.

PTM databases

PhosphoSiteiP31269.

Polymorphism and mutation databases

BioMutaiHOXA9.
DMDMi6166219.

Proteomic databases

PaxDbiP31269.
PRIDEiP31269.

Protocols and materials databases

DNASUi3205.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343483; ENSP00000343619; ENSG00000078399.
GeneIDi3205.
KEGGihsa:3205.
UCSCiuc003syt.3. human.

Organism-specific databases

CTDi3205.
GeneCardsiGC07M027254.
HGNCiHGNC:5109. HOXA9.
HPAiHPA061982.
MIMi142956. gene.
neXtProtiNX_P31269.
PharmGKBiPA29386.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG286554.
GeneTreeiENSGT00760000118834.
HOGENOMiHOG000231180.
HOVERGENiHBG016849.
InParanoidiP31269.
KOiK09294.
OMAiVPAVYHP.
OrthoDBiEOG722J9F.
PhylomeDBiP31269.
TreeFamiTF317819.

Enzyme and pathway databases

SignaLinkiP31269.

Miscellaneous databases

ChiTaRSiHOXA9. human.
GeneWikiiHOXA9.
GenomeRNAii3205.
NextBioi12752.
PROiP31269.
SOURCEiSearch...

Gene expression databases

BgeeiP31269.
CleanExiHS_HOXA9.
ExpressionAtlasiP31269. baseline and differential.
GenevestigatoriP31269.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR017112. Homeobox_Hox9.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR006711. Hox9_activation_N.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF04617. Hox9_act. 1 hit.
[Graphical view]
PIRSFiPIRSF037109. Homeobox_Hox9. 1 hit.
PRINTSiPR00024. HOMEOBOX.
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. 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.
    , 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. 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.

Entry informationi

Entry nameiHXA9_HUMAN
AccessioniPrimary (citable) accession number: P31269
Secondary accession number(s): O43369, O43429, Q99820
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 15, 1999
Last modified: April 29, 2015
This is version 154 of the entry and version 4 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

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.