HXB6_HUMAN
ID HXB6_HUMAN Reviewed; 224 AA.
AC P17509; A8K835; D3DTV5; P09068; Q9HB11; Q9UGH2;
DT 01-AUG-1990, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 4.
DT 03-AUG-2022, entry version 211.
DE RecName: Full=Homeobox protein Hox-B6;
DE AltName: Full=Homeobox protein Hox-2.2;
DE AltName: Full=Homeobox protein Hox-2B;
DE AltName: Full=Homeobox protein Hu-2;
GN Name=HOXB6; Synonyms=HOX2B;
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], AND ALTERNATIVE SPLICING.
RC TISSUE=Placenta;
RX PubMed=1672751; DOI=10.1093/nar/19.3.539;
RA Shen W.-F., Detmer K., Simonitch-Eason T.A., Lawrence H.J., Largman C.;
RT "Alternative splicing of the HOX 2.2 homeobox gene in human hematopoietic
RT cells and murine embryonic and adult tissues.";
RL Nucleic Acids Res. 19:539-545(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Frezza D., D'Esposito M., Migliaccio E., Santini S.M., Fruscalzo A.;
RT "Expression of HOX genes in T lymphocytes and hairy leukemia cell lines.";
RL Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Kidd K.K., Busygina V., DeMille M.M.C., Speed W.C., Ruggeri V., Kidd J.R.,
RA Pakstis A.J.;
RT "Overall linkage disequilibrium in 33 populations for highly informative
RT multisite haplotypes spanning the HOXB gene cluster.";
RL Am. J. Hum. Genet. 67:235-235(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
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 [MRNA] OF 135-224.
RX PubMed=2573064; DOI=10.1073/pnas.86.21.8536;
RA Shen W.-F., Largman C., Lowney P., Corral J.C., Detmer K., Hauser C.A.,
RA Simonitch T.A., Hack F.M., Lawrence H.J.;
RT "Lineage-restricted expression of homeobox-containing genes in human
RT hematopoietic cell lines.";
RL Proc. Natl. Acad. Sci. U.S.A. 86:8536-8540(1989).
RN [8]
RP PRELIMINARY NUCLEOTIDE SEQUENCE OF 136-224.
RX PubMed=6091895; DOI=10.1016/0092-8674(84)90261-7;
RA Levine M., Rubin G.M., Tjian R.;
RT "Human DNA sequences homologous to a protein coding region conserved
RT between homeotic genes of Drosophila.";
RL Cell 38:667-673(1984).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-214, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E.,
RA Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y.,
RA Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
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 -!- INTERACTION:
CC P17509; P49761: CLK3; NbExp=6; IntAct=EBI-741308, EBI-745579;
CC P17509; P13807: GYS1; NbExp=3; IntAct=EBI-741308, EBI-740553;
CC P17509; Q9HC98-4: NEK6; NbExp=3; IntAct=EBI-741308, EBI-11750983;
CC P17509; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-741308, EBI-741158;
CC P17509; P78362: SRPK2; NbExp=3; IntAct=EBI-741308, EBI-593303;
CC P17509; Q96M29: TEKT5; NbExp=3; IntAct=EBI-741308, EBI-10239812;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P17509-1; Sequence=Displayed;
CC Name=2; Synonyms=Homeobox-less;
CC IsoId=P17509-2; Sequence=VSP_002388, VSP_002389;
CC -!- SIMILARITY: Belongs to the Antp homeobox family. {ECO:0000305}.
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DR EMBL; X58431; CAA41335.1; -; Genomic_DNA.
DR EMBL; X58431; CAA41336.1; -; Genomic_DNA.
DR EMBL; AJ270993; CAB65909.1; -; mRNA.
DR EMBL; AF287967; AAG31552.1; -; Genomic_DNA.
DR EMBL; AK292200; BAF84889.1; -; mRNA.
DR EMBL; CH471109; EAW94728.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94729.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94730.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94731.1; -; Genomic_DNA.
DR EMBL; BC014651; AAH14651.1; -; mRNA.
DR EMBL; M30597; AAA36004.1; -; mRNA.
DR EMBL; K02571; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS11531.1; -. [P17509-1]
DR PIR; A05266; A05266.
DR PIR; S26400; S26400.
DR RefSeq; NP_061825.2; NM_018952.4. [P17509-1]
DR RefSeq; XP_005257340.1; XM_005257283.3.
DR RefSeq; XP_005257341.1; XM_005257284.3.
DR AlphaFoldDB; P17509; -.
DR SMR; P17509; -.
DR BioGRID; 109456; 51.
DR ELM; P17509; -.
DR IntAct; P17509; 17.
DR MINT; P17509; -.
DR STRING; 9606.ENSP00000420009; -.
DR iPTMnet; P17509; -.
DR PhosphoSitePlus; P17509; -.
DR BioMuta; HOXB6; -.
DR DMDM; 116242515; -.
DR jPOST; P17509; -.
DR MassIVE; P17509; -.
DR MaxQB; P17509; -.
DR PaxDb; P17509; -.
DR PeptideAtlas; P17509; -.
DR PRIDE; P17509; -.
DR ProteomicsDB; 53478; -. [P17509-1]
DR ProteomicsDB; 53479; -. [P17509-2]
DR Antibodypedia; 17852; 163 antibodies from 23 providers.
DR DNASU; 3216; -.
DR Ensembl; ENST00000225648.4; ENSP00000225648.3; ENSG00000108511.10. [P17509-1]
DR Ensembl; ENST00000484302.3; ENSP00000420009.2; ENSG00000108511.10. [P17509-1]
DR GeneID; 3216; -.
DR KEGG; hsa:3216; -.
DR MANE-Select; ENST00000225648.4; ENSP00000225648.3; NM_018952.5; NP_061825.2.
DR UCSC; uc002ins.2; human. [P17509-1]
DR CTD; 3216; -.
DR DisGeNET; 3216; -.
DR GeneCards; HOXB6; -.
DR HGNC; HGNC:5117; HOXB6.
DR HPA; ENSG00000108511; Tissue enhanced (epididymis, kidney).
DR MIM; 142961; gene.
DR neXtProt; NX_P17509; -.
DR OpenTargets; ENSG00000108511; -.
DR PharmGKB; PA29393; -.
DR VEuPathDB; HostDB:ENSG00000108511; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000161108; -.
DR HOGENOM; CLU_061398_1_1_1; -.
DR InParanoid; P17509; -.
DR OMA; HYPATYG; -.
DR OrthoDB; 1186205at2759; -.
DR PhylomeDB; P17509; -.
DR TreeFam; TF316310; -.
DR PathwayCommons; P17509; -.
DR SignaLink; P17509; -.
DR SIGNOR; P17509; -.
DR BioGRID-ORCS; 3216; 25 hits in 1106 CRISPR screens.
DR ChiTaRS; HOXB6; human.
DR GeneWiki; HOXB6; -.
DR GenomeRNAi; 3216; -.
DR Pharos; P17509; Tbio.
DR PRO; PR:P17509; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P17509; protein.
DR Bgee; ENSG00000108511; Expressed in corpus epididymis and 118 other tissues.
DR Genevisible; P17509; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
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:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IEA:Ensembl.
DR GO; GO:0034101; P:erythrocyte homeostasis; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017995; Homeobox_antennapedia.
DR InterPro; IPR001827; Homeobox_Antennapedia_CS.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00025; ANTENNAPEDIA.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00032; ANTENNAPEDIA; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Nucleus; Phosphoprotein; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..224
FT /note="Homeobox protein Hox-B6"
FT /id="PRO_0000200135"
FT DNA_BIND 146..205
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT MOTIF 127..132
FT /note="Antp-type hexapeptide"
FT MOD_RES 214
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17525332"
FT VAR_SEQ 140
FT /note="S -> E (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_002388"
FT VAR_SEQ 141..224
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_002389"
FT CONFLICT 24..25
FT /note="QL -> HV (in Ref. 1; CAA41335 and 2; CAB65909)"
FT /evidence="ECO:0000305"
FT CONFLICT 33
FT /note="A -> R (in Ref. 1; CAA41335)"
FT /evidence="ECO:0000305"
FT CONFLICT 60
FT /note="P -> R (in Ref. 1; CAA41335)"
FT /evidence="ECO:0000305"
FT CONFLICT 73
FT /note="D -> A (in Ref. 1; CAA41335)"
FT /evidence="ECO:0000305"
FT CONFLICT 149..150
FT /note="GR -> A (in Ref. 7; AAA36004)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 224 AA; 25432 MW; F60292D4D664099C CRC64;
MSSYFVNSTF PVTLASGQES FLGQLPLYSS GYADPLRHYP APYGPGPGQD KGFATSSYYP
PAGGGYGRAA PCDYGPAPAF YREKESACAL SGADEQPPFH PEPRKSDCAQ DKSVFGETEE
QKCSTPVYPW MQRMNSCNSS SFGPSGRRGR QTYTRYQTLE LEKEFHYNRY LTRRRRIEIA
HALCLTERQI KIWFQNRRMK WKKESKLLSA SQLSAEEEEE KQAE
