P31270 (HXA11_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein Hox-A11

Alternative name(s):
Homeobox protein 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.
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 (RSAT) [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.8
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
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	branching involved in ureteric bud morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB cartilage development involved in endochondral bone morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB developmental growth Inferred from sequence or structural similarity. Source: UniProtKB dorsal/ventral pattern formation Inferred from sequence or structural similarity. Source: UniProtKB embryonic limb morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB mesodermal cell fate specification Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of cell development Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of chondrocyte differentiation Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of transcription, DNA-dependent Inferred from sequence or structural similarity. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from direct assay. Source: HPA nucleolus Inferred from direct assay. Source: HPA protein-DNA complex Inferred from sequence or structural similarity. Source: UniProtKB transcription factor complex Inferred from sequence or structural similarity. Source: UniProtKB
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...

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 [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]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed: 12690205] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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].
[6]	"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.
[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 241-306.
[8]	"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 RSAT.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF071164 Genomic DNA. Translation: AAC80455.1. AF039307 Genomic DNA. Translation: AAB94761.1. AC004080 Genomic DNA. No translation available. CH236948 Genomic DNA. Translation: EAL24220.1. CH471073 Genomic DNA. Translation: EAW93888.1. BC040948 mRNA. Translation: AAH40948.1.
IPI	IPI00010754.
PIR	S14931.
RefSeq	NP_005514.1. NM_005523.5.
UniGene	Hs.249171.
3D structure databases
ProteinModelPortal	P31270.
SMR	P31270. Positions 238-303.
ModBase	Search...
Protein-protein interaction databases
IntAct	P31270. 1 interaction.
STRING	P31270.
Polymorphism databases
DMDM	13124744.
Proteomic databases
PRIDE	P31270.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000006015; ENSP00000006015; ENSG00000005073.
GeneID	3207.
KEGG	hsa:3207.
UCSC	uc003syx.1. human.
Organism-specific databases
CTD	3207.
GeneCards	GC07M027220.
H-InvDB	HIX0025326.
HGNC	HGNC:5101. HOXA11.
HPA	HPA035623.
MIM	142958. gene. 605432. phenotype.
neXtProt	NX_P31270.
Orphanet	71289. Radio-ulnar synostosis - amegakaryocytic thrombocytopenia.
PharmGKB	PA29378.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00560000076560.
HOGENOM	HBG402994.
HOVERGEN	HBG052048.
InParanoid	P31270.
OMA	TAYGTAE.
OrthoDB	EOG4KKZ3X.
PhylomeDB	P31270.
Gene expression databases
ArrayExpress	P31270.
Bgee	P31270.
CleanEx	HS_HOXA11.
Genevestigator	P31270.
GermOnline	ENSG00000005073. Homo sapiens.
Family and domain databases
InterPro	IPR021918. DUF3528. IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR020479. Homeobox_eu. IPR009057. Homeodomain-like. IPR012287. Homeodomain-rel. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
KO	K09296.
Pfam	PF12045. DUF3528. 1 hit. PF00046. Homeobox. 1 hit. [Graphical view]
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
NextBio	12762.
SOURCE	Search...

Entry information

Entry name

HXA11_HUMAN

Accession

Primary (citable) accession number: P31270
Secondary accession number(s): A4D190

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	February 21, 2001
Last modified:	January 25, 2012
This is version 120 of the entry and version 2 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.