HXB7_HUMAN
ID HXB7_HUMAN Reviewed; 217 AA.
AC P09629; A8K3N8; Q15957; Q53FN3; Q96BQ6;
DT 01-JUL-1989, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 4.
DT 03-AUG-2022, entry version 197.
DE RecName: Full=Homeobox protein Hox-B7;
DE AltName: Full=Homeobox protein HHO.C1;
DE AltName: Full=Homeobox protein Hox-2C;
GN Name=HOXB7; Synonyms=HOX2C;
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 [MRNA], AND VARIANT ALA-9.
RX PubMed=2885844; DOI=10.1073/pnas.84.14.4914;
RA Simeone A., Mavilio F., Acampora D., Giampaolo A., Faiella A.,
RA Zappavigna V., D'Esposito M., Pannese M., Russo G., Boncinelli E.,
RA Peschle C.;
RT "Two human homeobox genes, c1 and c8: structure analysis and expression in
RT embryonic development.";
RL Proc. Natl. Acad. Sci. U.S.A. 84:4914-4918(1987).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-9.
RC TISSUE=Embryo;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-9.
RC TISSUE=Gastric mucosa;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ALA-9.
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
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], AND VARIANT ALA-9.
RC TISSUE=Liver;
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 98-217.
RX PubMed=1678287;
RA Baier L.J., Hannibal M.C., Hanley E.W., Nabel G.J.;
RT "Lymphoid expression and TATAA binding of a human protein containing an
RT Antennapedia homeodomain.";
RL Blood 78:1047-1055(1991).
RN [8]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 119-217.
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 [9]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 137-202.
RX PubMed=2576652; DOI=10.1139/g89-133;
RA Boncinelli E., Acampora D., Pannese M., D'Esposito M., Somma R.,
RA Gaudino G., Stornaiuolo A., Cafiero M., Faiella A., Simeone A.;
RT "Organization of human class I homeobox genes.";
RL Genome 31:745-756(1989).
RN [10]
RP INTERACTION WITH PBX1.
RX PubMed=7791786; DOI=10.1128/mcb.15.7.3786;
RA Lu Q., Knoepfler P.S., Scheele J., Wright D.D., Kamps M.P.;
RT "Both Pbx1 and E2A-Pbx1 bind the DNA motif ATCAATCAA cooperatively with the
RT products of multiple murine Hox genes, some of which are themselves
RT oncogenes.";
RL Mol. Cell. Biol. 15:3786-3795(1995).
RN [11]
RP INTERACTION WITH PBX1.
RX PubMed=9191052; DOI=10.1038/sj.onc.1201097;
RA Knoepfler P.S., Kamps M.P.;
RT "The highest affinity DNA element bound by Pbx complexes in t(1;19)
RT leukemic cells fails to mediate cooperative DNA-binding or cooperative
RT transactivation by E2a-Pbx1 and class I Hox proteins - evidence for
RT selective targetting of E2a-Pbx1 to a subset of Pbx-recognition elements.";
RL Oncogene 14:2521-2531(1997).
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 -!- SUBUNIT: Forms a DNA-binding heterodimer with transcription factor
CC PBX1. {ECO:0000269|PubMed:7791786, ECO:0000269|PubMed:9191052}.
CC -!- INTERACTION:
CC P09629; P49761: CLK3; NbExp=6; IntAct=EBI-1248457, EBI-745579;
CC P09629; G5E9A7: DMWD; NbExp=3; IntAct=EBI-1248457, EBI-10976677;
CC P09629; P22607: FGFR3; NbExp=3; IntAct=EBI-1248457, EBI-348399;
CC P09629; P78527: PRKDC; NbExp=2; IntAct=EBI-1248457, EBI-352053;
CC P09629; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-1248457, EBI-5235340;
CC P09629; P13010: XRCC5; NbExp=9; IntAct=EBI-1248457, EBI-357997;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- SIMILARITY: Belongs to the Antp homeobox family. {ECO:0000305}.
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DR EMBL; M16937; AAA36003.1; -; mRNA.
DR EMBL; AK290653; BAF83342.1; -; mRNA.
DR EMBL; AK223249; BAD96969.1; -; mRNA.
DR EMBL; AC103702; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CH471109; EAW94725.1; -; Genomic_DNA.
DR EMBL; BC015345; AAH15345.1; -; mRNA.
DR EMBL; S49765; AAB19469.2; -; mRNA.
DR EMBL; M30598; AAA36005.1; -; mRNA.
DR CCDS; CCDS11532.1; -.
DR PIR; A28030; WJHU2C.
DR RefSeq; NP_004493.3; NM_004502.3.
DR AlphaFoldDB; P09629; -.
DR SMR; P09629; -.
DR BioGRID; 109457; 21.
DR ELM; P09629; -.
DR IntAct; P09629; 9.
DR STRING; 9606.ENSP00000239165; -.
DR iPTMnet; P09629; -.
DR PhosphoSitePlus; P09629; -.
DR BioMuta; HOXB7; -.
DR DMDM; 311033482; -.
DR jPOST; P09629; -.
DR MassIVE; P09629; -.
DR MaxQB; P09629; -.
DR PaxDb; P09629; -.
DR PeptideAtlas; P09629; -.
DR PRIDE; P09629; -.
DR ProteomicsDB; 52255; -.
DR Antibodypedia; 68878; 365 antibodies from 32 providers.
DR DNASU; 3217; -.
DR Ensembl; ENST00000239165.9; ENSP00000239165.7; ENSG00000260027.5.
DR GeneID; 3217; -.
DR KEGG; hsa:3217; -.
DR MANE-Select; ENST00000239165.9; ENSP00000239165.7; NM_004502.4; NP_004493.3.
DR UCSC; uc002inv.4; human.
DR CTD; 3217; -.
DR DisGeNET; 3217; -.
DR GeneCards; HOXB7; -.
DR HGNC; HGNC:5118; HOXB7.
DR HPA; ENSG00000260027; Tissue enriched (epididymis).
DR MIM; 142962; gene.
DR neXtProt; NX_P09629; -.
DR OpenTargets; ENSG00000260027; -.
DR VEuPathDB; HostDB:ENSG00000260027; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000161230; -.
DR HOGENOM; CLU_061398_1_1_1; -.
DR InParanoid; P09629; -.
DR OMA; LSMMCPG; -.
DR OrthoDB; 1203627at2759; -.
DR PhylomeDB; P09629; -.
DR TreeFam; TF316310; -.
DR PathwayCommons; P09629; -.
DR SignaLink; P09629; -.
DR SIGNOR; P09629; -.
DR BioGRID-ORCS; 3217; 14 hits in 1097 CRISPR screens.
DR GeneWiki; HOXB7; -.
DR GenomeRNAi; 3217; -.
DR Pharos; P09629; Tbio.
DR PRO; PR:P09629; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P09629; protein.
DR Bgee; ENSG00000260027; Expressed in corpus epididymis and 150 other tissues.
DR Genevisible; P09629; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0016604; C:nuclear body; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
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:0048568; P:embryonic organ development; IEP:UniProtKB.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IEA:Ensembl.
DR GO; GO:0030099; P:myeloid cell differentiation; IEA:Ensembl.
DR GO; GO:0090190; P:positive regulation of branching involved in ureteric bud morphogenesis; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; NAS:UniProtKB.
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 Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..217
FT /note="Homeobox protein Hox-B7"
FT /id="PRO_0000200142"
FT DNA_BIND 137..196
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 194..217
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 126..131
FT /note="Antp-type hexapeptide"
FT VARIANT 9
FT /note="T -> A (in dbSNP:rs7406910)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16625196,
FT ECO:0000269|PubMed:2885844, ECO:0000269|Ref.3"
FT /id="VAR_058204"
FT CONFLICT 49
FT /note="A -> V (in Ref. 2; BAF83342 and 3; BAD96969)"
FT /evidence="ECO:0000305"
FT CONFLICT 53
FT /note="A -> G (in Ref. 1; AAA36003)"
FT /evidence="ECO:0000305"
FT CONFLICT 94
FT /note="Q -> L (in Ref. 3; BAD96969)"
FT /evidence="ECO:0000305"
FT CONFLICT 108
FT /note="A -> G (in Ref. 7; AAB19469)"
FT /evidence="ECO:0000305"
FT CONFLICT 118
FT /note="L -> F (in Ref. 7; AAB19469)"
FT /evidence="ECO:0000305"
FT CONFLICT 129
FT /note="W -> S (in Ref. 1; AAA36003)"
FT /evidence="ECO:0000305"
FT CONFLICT 153
FT /note="E -> G (in Ref. 3; BAD96969)"
FT /evidence="ECO:0000305"
FT CONFLICT 154
FT /note="K -> N (in Ref. 7; AAB19469)"
FT /evidence="ECO:0000305"
FT CONFLICT 173
FT /note="T -> A (in Ref. 1; AAA36003 and 7; AAB19469)"
FT /evidence="ECO:0000305"
FT CONFLICT 194
FT /note="K -> N (in Ref. 7; AAB19469)"
FT /evidence="ECO:0000305"
FT CONFLICT 200..202
FT /note="GPG -> APA (in Ref. 7; AAB19469)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 217 AA; 24015 MW; E92D63F437D34628 CRC64;
MSSLYYANTL FSKYPASSSV FATGAFPEQT SCAFASNPQR PGYGAGSGAS FAASMQGLYP
GGGGMAGQSA AGVYAAGYGL EPSSFNMHCA PFEQNLSGVC PGDSAKAAGA KEQRDSDLAA
ESNFRIYPWM RSSGTDRKRG RQTYTRYQTL ELEKEFHYNR YLTRRRRIEI AHTLCLTERQ
IKIWFQNRRM KWKKENKTAG PGTTGQDRAE AEEEEEE
