Reviewed, UniProtKB/Swiss-Prot P31269 (HXA9_HUMAN)

Names and origin

Protein names

Recommended name:
    Homeobox protein Hox-A9
Alternative name(s):
    Hox-1G

Gene names

Name:	HOXA9
Synonyms:	HOX1G

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	272 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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.
Subcellular location	Nucleus.
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.

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
Gene Ontology (GO)
Biological process	multicellular organismal development Ref.6 Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from direct assay. Source: LIFEdb
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
TRIP6	Q15654	1	EBI-742314,EBI-742327

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 272	272	Homeobox protein Hox-A9
Regions
	DNA binding	206 – 265	60	Homeobox
Sites
	Site	163 – 164	2	Breakpoint for translocation to form MSI2/HOXA9 fusion protein
Experimental info
	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)
	P31269-1 [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. Tissue: Bone marrow.
[2]	Patel C.V., Sharangpani R., Patel J., Dicorleto P.E. Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE.
[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: 12853948] [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: 15489334] [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: 8563754] [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: 2574852] [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: 12649177] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH MSI2.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
PIR	S14929.
RefSeq	NP_689952.1.
UniGene	Hs.659350
3D structure databases
HSSP	HSSP built from PDB template 9ANT based on UniProtKB P02833.
SMR	P31269. Positions 194-270.
ModBase	Search...
Protein-protein interaction databases
IntAct	P31269.
Genome annotation databases
Ensembl	ENSG00000078399. Homo sapiens. [Contig view]
GeneID	3205.
KEGG	hsa:3205.
Organism-specific databases
H-InvDB	HIX0006547.
HGNC	HGNC:5109. HOXA9.
MIM	142956. gene.
PharmGKB	PA29386.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P31269.
HOVERGEN	P31269.
Gene expression databases
ArrayExpress	P31269.
CleanEx	HS_HOXA9.
GermOnline	ENSG00000078399. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR017112. Homeobox_Hox9. IPR012287. Homeodomain-rel. IPR006711. Hox9_act. IPR000047. HTH_lambrepressr. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
Pfam	PF00046. Homeobox. 1 hit. PF04617. Hox9_act. 1 hit. [Graphical view]
PIRSF	PIRSF037109. Homeobox_Hox9. 1 hit.
PRINTS	PR00024. HOMEOBOX. PR00031. HTHREPRESSR.
ProDom	PD000010. Homeobox. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00389. HOX. 1 hit. [Graphical view]
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	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:	July 22, 2008
This is version 84 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)