Reviewed, UniProtKB/Swiss-Prot P31270 (HXA11_HUMAN)

Names and origin

Protein names

Recommended name:
    Homeobox protein Hox-A11
Alternative name(s):
    Hox-1I

Gene names

Name:	HOXA11
Synonyms:	HOX1I

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	313 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript 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	Defects in HOXA11 are the cause of radioulnar synostosis with amegakaryocytic thrombocytopenia [MIM:605432]. The 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. Ref.6
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
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Gene Ontology (GO)
Biological process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 313	313	Homeobox protein Hox-A11		PRO_0000200095
Regions
	DNA binding	241 – 300	60	Homeobox
	Compositional bias	177 – 183	7	Poly-Ala
	Compositional bias	195 – 199	5	Poly-Gly
	Compositional bias	204 – 207	4	Poly-Ala
	Compositional bias	212 – 215	4	Poly-Arg
	Compositional bias	218 – 221	4	Poly-Ser

Sequences

	Sequence		Length	Mass (Da)
	P31270-1 [UniParc]. Last modified February 21, 2001. Version 2. Checksum: B345B987816AB9FB	FASTA	313	34,486
	10 20 30 40 50 60 MDFDERGPCS SNMYLPSCTY YVSGPDFSSL PSFLPQTPSS RPMTYSYSSN LPQVQPVREV 70 80 90 100 110 120 TFREYAIEPA TKWHPRGNLA HCYSAEELVH RDCLQAPSAA GVPGDVLAKS SANVYHHPTP 130 140 150 160 170 180 AVSSNFYSTV GRNGVLPQAF DQFFETAYGT PENLASSDYP GDKSAEKGPP AATATSAAAA 190 200 210 220 230 240 AAATGAPATS SSDSGGGGGC RETAAAAEEK ERRRRPESSS SPESSSGHTE DKAGGSSGQR 250 260 270 280 290 300 TRKKRCPYTK YQIRELEREF FFSVYINKEK RLQLSRMLNL TDRQVKIWFQ NRRMKEKKIN 310 RDRLQYYSAN PLL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Evolutionary conservation and tissue-specific processing of hoxa 11 antisense transcripts." Potter S.S., Branford W.W. Mamm. Genome 9:799-806(1998) [PubMed: 9745033] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	Mi X., Winters J.L., Stevens D.B., Fleischman R.A. Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"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].
[4]	"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: Ovary.
[5]	"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 241-306.
[6]	"Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation." Thompson A.A., Nguyen L.T. Nat. Genet. 26:397-398(2000) [PubMed: 11101832] [Abstract] Cited for: INVOLVEMENT IN RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF071164 Genomic DNA. Translation: AAC80455.1. AF039307 Genomic DNA. Translation: AAB94761.1. AC004080 Genomic DNA. No translation available. BC040948 mRNA. Translation: AAH40948.1.
IPI	IPI00010754.
PIR	S14931.
RefSeq	NP_005514.1.
UniGene	Hs.249171
3D structure databases
HSSP	HSSP built from PDB template 9ANT based on UniProtKB P02833.
ModBase	Search...
Proteomic databases
PRIDE	P31270.
Genome annotation databases
Ensembl	ENSG00000005073. Homo sapiens. [Contig view]
GeneID	3207.
KEGG	hsa:3207.
Organism-specific databases
GeneCards	GC07M027187.
H-InvDB	HIX0025326.
HGNC	HGNC:5101. HOXA11.
MIM	142958. gene. 605432. phenotype.
Orphanet	3269. Radio-ulnar synostosis. 71289. Radio-ulnar synostosis - amegakaryocytic thrombocytopenia.
PharmGKB	PA29378.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P31270.
HOVERGEN	P31270.
OMA	P31270. GGGCREA.
Gene expression databases
ArrayExpress	P31270.
Bgee	P31270.
CleanEx	HS_HOXA11.
GermOnline	ENSG00000005073. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR012287. Homeodomain-rel. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
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]
ProtoNet	Search...
Other Resources
NextBio	12762.
SOURCE	Search...

Entry information

Entry name

HXA11_HUMAN

Accession

Primary (citable) accession number: P31270

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	February 21, 2001
Last modified:	June 16, 2009
This is version 90 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)