HXA11_HUMAN
ID HXA11_HUMAN Reviewed; 313 AA.
AC P31270; A4D190;
DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT 21-FEB-2001, sequence version 2.
DT 03-AUG-2022, entry version 195.
DE RecName: Full=Homeobox protein Hox-A11;
DE AltName: Full=Homeobox protein Hox-1I;
GN Name=HOXA11; Synonyms=HOX1I;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=9745033; DOI=10.1007/s003359900870;
RA Potter S.S., Branford W.W.;
RT "Evolutionary conservation and tissue-specific processing of hoxa 11
RT antisense transcripts.";
RL Mamm. Genome 9:799-806(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Mi X., Winters J.L., Stevens D.B., Fleischman R.A.;
RL Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE OF 241-306.
RX PubMed=2574852; DOI=10.1093/nar/17.24.10385;
RA Acampora D., D'Esposito M., Faiella A., Pannese M., Migliaccio E.,
RA Morelli F., Stornaiuolo A., Nigro V., Simeone A., Boncinelli E.;
RT "The human HOX gene family.";
RL Nucleic Acids Res. 17:10385-10402(1989).
RN [8]
RP INVOLVEMENT IN RUSAT1.
RX PubMed=11101832; DOI=10.1038/82511;
RA Thompson A.A., Nguyen L.T.;
RT "Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated
RT with HOXA11 mutation.";
RL Nat. Genet. 26:397-398(2000).
CC -!- FUNCTION: Sequence-specific transcription factor which is part of a
CC developmental regulatory system that provides cells with specific
CC positional identities on the anterior-posterior axis.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- DISEASE: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
CC (RUSAT1) [MIM:605432]: The syndrome consists of an unusual association
CC of bone marrow failure and skeletal defects. Patients have the same
CC skeletal defects, the proximal fusion of the radius and ulna, resulting
CC in extremely limited pronation and supination of the forearm. Some
CC patients have also symptomatic thrombocytopenia, with bruising and
CC bleeding problems since birth, necessitating correction by bone marrow
CC or umbilical-cord stem-cell transplantation.
CC {ECO:0000269|PubMed:11101832}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the Abd-B homeobox family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/HOXA11ID40847ch7p15.html";
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DR EMBL; AF071164; AAC80455.1; -; Genomic_DNA.
DR EMBL; AF039307; AAB94761.1; -; Genomic_DNA.
DR EMBL; AC004080; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236948; EAL24220.1; -; Genomic_DNA.
DR EMBL; CH471073; EAW93888.1; -; Genomic_DNA.
DR EMBL; BC040948; AAH40948.1; -; mRNA.
DR CCDS; CCDS5411.1; -.
DR PIR; S14931; S14931.
DR RefSeq; NP_005514.1; NM_005523.5.
DR AlphaFoldDB; P31270; -.
DR SMR; P31270; -.
DR BioGRID; 109447; 9.
DR IntAct; P31270; 1.
DR STRING; 9606.ENSP00000006015; -.
DR GlyGen; P31270; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P31270; -.
DR PhosphoSitePlus; P31270; -.
DR BioMuta; HOXA11; -.
DR DMDM; 13124744; -.
DR jPOST; P31270; -.
DR MassIVE; P31270; -.
DR MaxQB; P31270; -.
DR PaxDb; P31270; -.
DR PeptideAtlas; P31270; -.
DR PRIDE; P31270; -.
DR ProteomicsDB; 54771; -.
DR Antibodypedia; 12408; 370 antibodies from 33 providers.
DR DNASU; 3207; -.
DR Ensembl; ENST00000006015.4; ENSP00000006015.3; ENSG00000005073.6.
DR GeneID; 3207; -.
DR KEGG; hsa:3207; -.
DR MANE-Select; ENST00000006015.4; ENSP00000006015.3; NM_005523.6; NP_005514.1.
DR UCSC; uc003syx.4; human.
DR CTD; 3207; -.
DR DisGeNET; 3207; -.
DR GeneCards; HOXA11; -.
DR HGNC; HGNC:5101; HOXA11.
DR HPA; ENSG00000005073; Tissue enhanced (cervix, endometrium, smooth muscle).
DR MalaCards; HOXA11; -.
DR MIM; 142958; gene.
DR MIM; 605432; phenotype.
DR neXtProt; NX_P31270; -.
DR OpenTargets; ENSG00000005073; -.
DR Orphanet; 71289; Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome.
DR PharmGKB; PA29378; -.
DR VEuPathDB; HostDB:ENSG00000005073; -.
DR eggNOG; KOG0487; Eukaryota.
DR GeneTree; ENSGT00940000158311; -.
DR HOGENOM; CLU_079662_0_0_1; -.
DR InParanoid; P31270; -.
DR OMA; NVYHHPS; -.
DR OrthoDB; 976319at2759; -.
DR PhylomeDB; P31270; -.
DR TreeFam; TF350668; -.
DR PathwayCommons; P31270; -.
DR SignaLink; P31270; -.
DR SIGNOR; P31270; -.
DR BioGRID-ORCS; 3207; 66 hits in 1095 CRISPR screens.
DR GeneWiki; HOXA11; -.
DR GenomeRNAi; 3207; -.
DR Pharos; P31270; Tbio.
DR PRO; PR:P31270; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; P31270; protein.
DR Bgee; ENSG00000005073; Expressed in body of uterus and 72 other tissues.
DR ExpressionAtlas; P31270; baseline and differential.
DR Genevisible; P31270; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0032991; C:protein-containing complex; ISS:UniProtKB.
DR GO; GO:0032993; C:protein-DNA complex; ISS:UniProtKB.
DR GO; GO:0005667; C:transcription regulator complex; ISS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IEA:Ensembl.
DR GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; ISS:UniProtKB.
DR GO; GO:0060351; P:cartilage development involved in endochondral bone morphogenesis; ISS:UniProtKB.
DR GO; GO:0002063; P:chondrocyte development; IEA:Ensembl.
DR GO; GO:0048589; P:developmental growth; ISS:UniProtKB.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; ISS:UniProtKB.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IEA:Ensembl.
DR GO; GO:0035115; P:embryonic forelimb morphogenesis; IEA:Ensembl.
DR GO; GO:0030326; P:embryonic limb morphogenesis; ISS:UniProtKB.
DR GO; GO:0060272; P:embryonic skeletal joint morphogenesis; IEA:Ensembl.
DR GO; GO:0008584; P:male gonad development; IEA:Ensembl.
DR GO; GO:0007501; P:mesodermal cell fate specification; ISS:UniProtKB.
DR GO; GO:0001656; P:metanephros development; IEA:Ensembl.
DR GO; GO:0001759; P:organ induction; IEA:Ensembl.
DR GO; GO:0010720; P:positive regulation of cell development; ISS:UniProtKB.
DR GO; GO:1902761; P:positive regulation of chondrocyte development; IEA:Ensembl.
DR GO; GO:0032332; P:positive regulation of chondrocyte differentiation; ISS:UniProtKB.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0030850; P:prostate gland development; IEA:Ensembl.
DR GO; GO:0009954; P:proximal/distal pattern formation; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0043627; P:response to estrogen; IEA:Ensembl.
DR GO; GO:0033574; P:response to testosterone; IEA:Ensembl.
DR GO; GO:0007338; P:single fertilization; IEA:Ensembl.
DR GO; GO:0001501; P:skeletal system development; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IEA:Ensembl.
DR GO; GO:0060065; P:uterus development; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR021918; DUF3528.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF12045; DUF3528; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 2: Evidence at transcript level;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..313
FT /note="Homeobox protein Hox-A11"
FT /id="PRO_0000200095"
FT DNA_BIND 241..300
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 154..246
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 204..219
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 220..234
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 313 AA; 34486 MW; B345B987816AB9FB CRC64;
MDFDERGPCS SNMYLPSCTY YVSGPDFSSL PSFLPQTPSS RPMTYSYSSN LPQVQPVREV
TFREYAIEPA TKWHPRGNLA HCYSAEELVH RDCLQAPSAA GVPGDVLAKS SANVYHHPTP
AVSSNFYSTV GRNGVLPQAF DQFFETAYGT PENLASSDYP GDKSAEKGPP AATATSAAAA
AAATGAPATS SSDSGGGGGC RETAAAAEEK ERRRRPESSS SPESSSGHTE DKAGGSSGQR
TRKKRCPYTK YQIRELEREF FFSVYINKEK RLQLSRMLNL TDRQVKIWFQ NRRMKEKKIN
RDRLQYYSAN PLL
