P31269 (HXA9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein Hox-A9

Alternative name(s):
Homeobox protein Hox-1G

Gene names

Name:	HOXA9
Synonyms:	HOX1G

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	272 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Chromosomal rearrangement
Disease	Proto-oncogene
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
PTM	Methylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterior/posterior pattern specification Inferred from electronic annotation. Source: Compara definitive hemopoiesis Inferred from electronic annotation. Source: Compara embryonic forelimb morphogenesis Inferred from electronic annotation. Source: Compara embryonic skeletal system development Inferred from electronic annotation. Source: Compara endothelial cell activation Inferred from mutant phenotype Ref.9. Source: UniProtKB mammary gland development Inferred from electronic annotation. Source: Compara 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: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from electronic annotation. Source: Compara nucleus Inferred from direct assay. Source: LIFEdb transcription factor complex Inferred from electronic annotation. Source: Compara
Molecular_function	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
TRIP6	Q15654	4	EBI-742314,EBI-742327

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 272	272	Homeobox protein Hox-A9		PRO_0000200081
Regions
	DNA binding	206 – 265	60	Homeobox
Sites
	Site	163 – 164	2	Breakpoint for translocation to form MSI2/HOXA9 fusion protein
Amino acid modifications
	Modified residue	140	1	Symmetric dimethylarginine Ref.9
Experimental info
	Mutagenesis	140	1	R → A: Results in loss of methylation. Ref.9
	Sequence conflict	64	1	G → V in AAB40867. Ref.1
	Sequence conflict	67	1	W → R in AAD08713. Ref.2
	Sequence conflict	80	1	Missing in AAB40867. Ref.1
	Sequence conflict	243	1	L → F in AAB40867. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P31269 [UniParc]. Last modified July 15, 1999. Version 4. Checksum: 823A1A22BB07A881	FASTA	272	30,172
	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

References

	« Hide 'large scale' referencesShow '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. , 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, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.
IPI	IPI00010744.
PIR	S14929.
RefSeq	NP_689952.1. NM_152739.3.
UniGene	Hs.659350.
3D structure databases
ProteinModelPortal	P31269.
ModBase	Search...
Protein-protein interaction databases
IntAct	P31269. 3 interactions.
MINT	MINT-2802430.
STRING	9606.ENSP00000343619.
PTM databases
PhosphoSite	P31269.
Polymorphism databases
DMDM	6166219.
Proteomic databases
PaxDb	P31269.
PRIDE	P31269.
Protocols and materials databases
DNASU	3205.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000343483; ENSP00000343619; ENSG00000078399.
GeneID	3205.
KEGG	hsa:3205.
UCSC	uc003syt.3. human.
Organism-specific databases
CTD	3205.
GeneCards	GC07M027214.
HGNC	HGNC:5109. HOXA9.
MIM	142956. gene.
neXtProt	NX_P31269.
PharmGKB	PA29386.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG286554.
HOGENOM	HOG000231180.
HOVERGEN	HBG016849.
InParanoid	P31269.
KO	K09294.
OMA	SWLEPAP.
OrthoDB	EOG4D26QZ.
PhylomeDB	P31269.
Enzyme and pathway databases
SignaLink	P31269.
Gene expression databases
ArrayExpress	P31269.
Bgee	P31269.
CleanEx	HS_HOXA9.
Genevestigator	P31269.
GermOnline	ENSG00000078399. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR017112. Homeobox_Hox9. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR006711. Hox9_activation_N. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. PF04617. Hox9_act. 1 hit. [Graphical view]
PIRSF	PIRSF037109. Homeobox_Hox9. 1 hit.
PRINTS	PR00024. HOMEOBOX.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	HOXA9. human.
GenomeRNAi	3205.
NextBio	12752.
SOURCE	Search...

Entry information

Entry name

HXA9_HUMAN

Accession

Primary (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:	May 29, 2013
This is version 138 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.