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Database: UniProt
Entry: Q14774
LinkDB: Q14774
Original site: Q14774 
ID   HLX_HUMAN               Reviewed;         488 AA.
AC   Q14774; B2R8A8; Q15988; Q59HE7; Q9NZ75;
DT   01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT   13-NOV-2007, sequence version 3.
DT   19-FEB-2014, entry version 127.
DE   RecName: Full=H2.0-like homeobox protein;
DE   AltName: Full=Homeobox protein HB24;
DE   AltName: Full=Homeobox protein HLX1;
GN   Name=HLX; Synonyms=HLX1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=B-cell;
RX   PubMed=1676597;
RA   Deguchi Y., Moroney J.F., Wilson G.L., Fox C.H., Winter H.S.,
RA   Kehrl J.H.;
RT   "Cloning of a human homeobox gene that resembles a diverged Drosophila
RT   homeobox gene and is expressed in activated lymphocytes.";
RL   New Biol. 3:353-363(1991).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA   Hanrahan V., Kennedy M.A.;
RT   "Genomic sequence of human homeobox gene HLX1.";
RL   Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Small intestine;
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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-356.
RC   TISSUE=Brain;
RA   Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA   Ohara O., Nagase T., Kikuno R.F.;
RL   Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA   Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA   Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA   McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA   Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA   Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA   Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA   Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA   Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA   Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA   Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA   Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA   Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA   Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA   Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA   Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA   Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA   Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA   Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA   Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA   Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA   Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA   Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA   Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA   Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Retina;
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [8]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-326, AND VARIANT PRO-116.
RX   PubMed=7806220; DOI=10.1006/geno.1994.1394;
RA   Kennedy M.A., Rayner J.C., Morris C.M.;
RT   "Genomic structure, promoter sequence, and revised translation of
RT   human homeobox gene HLX1.";
RL   Genomics 22:348-355(1994).
RN   [9]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 350-369.
RX   PubMed=8095486; DOI=10.1006/geno.1993.1068;
RA   Nishimura D.Y., Purchio A.F., Murray J.C.;
RT   "Linkage localization of TGFB2 and the human homeobox gene HLX1 to
RT   chromosome 1q.";
RL   Genomics 15:357-364(1993).
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.,
RA   Mohammed S.;
RT   "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT   a refined SCX-based approach.";
RL   Anal. Chem. 81:4493-4501(2009).
CC   -!- FUNCTION: Transcription factor required for TBX21/T-bet-dependent
CC       maturation of Th1 cells as well as maintenance of Th1-specific
CC       gene expression. Involved in embryogenesis and hematopoiesis (By
CC       similarity).
CC   -!- INTERACTION:
CC       Q15022:SUZ12; NbExp=2; IntAct=EBI-6678255, EBI-1264675;
CC   -!- SUBCELLULAR LOCATION: Nucleus (Potential).
CC   -!- TISSUE SPECIFICITY: Low level in normal B and T-cells, high level
CC       in activated lymphocytes and monocytes. Also found in thymus,
CC       tonsil, bone marrow, developing vessels, and fetal brain.
CC   -!- SIMILARITY: Belongs to the H2.0 homeobox family.
CC   -!- SIMILARITY: Contains 1 homeobox DNA-binding domain.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAD92049.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC       Sequence=BAD92049.1; Type=Frameshift; Positions=198, 259, 321;
CC       Sequence=M60721; Type=Frameshift; Positions=69, 115, 152, 167;
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DR   EMBL; M60721; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AF217621; AAF65541.1; -; Genomic_DNA.
DR   EMBL; AK313298; BAG36105.1; -; mRNA.
DR   EMBL; AB208812; BAD92049.1; ALT_SEQ; mRNA.
DR   EMBL; AL445423; CAH72120.1; -; Genomic_DNA.
DR   EMBL; CH471100; EAW93289.1; -; Genomic_DNA.
DR   EMBL; BC007294; AAH07294.1; -; mRNA.
DR   EMBL; BC033808; AAH33808.1; -; mRNA.
DR   EMBL; U14328; AAC51346.1; -; Genomic_DNA.
DR   EMBL; U14325; AAC51346.1; JOINED; Genomic_DNA.
DR   EMBL; U14326; AAC51346.1; JOINED; Genomic_DNA.
DR   EMBL; U14327; AAC51346.1; JOINED; Genomic_DNA.
DR   EMBL; S56767; AAD13883.1; -; Genomic_DNA.
DR   PIR; A55180; A55180.
DR   RefSeq; NP_068777.1; NM_021958.3.
DR   UniGene; Hs.74870; -.
DR   ProteinModelPortal; Q14774; -.
DR   SMR; Q14774; 283-334.
DR   BioGrid; 109387; 1.
DR   IntAct; Q14774; 4.
DR   STRING; 9606.ENSP00000355870; -.
DR   PhosphoSite; Q14774; -.
DR   DMDM; 160291960; -.
DR   PaxDb; Q14774; -.
DR   PRIDE; Q14774; -.
DR   DNASU; 3142; -.
DR   Ensembl; ENST00000366903; ENSP00000355870; ENSG00000136630.
DR   GeneID; 3142; -.
DR   KEGG; hsa:3142; -.
DR   UCSC; uc001hmv.4; human.
DR   CTD; 3142; -.
DR   GeneCards; GC01P221052; -.
DR   H-InvDB; HIX0001609; -.
DR   HGNC; HGNC:4978; HLX.
DR   HPA; HPA005968; -.
DR   MIM; 142995; gene.
DR   neXtProt; NX_Q14774; -.
DR   PharmGKB; PA162391017; -.
DR   eggNOG; NOG331357; -.
DR   HOGENOM; HOG000112911; -.
DR   HOVERGEN; HBG000457; -.
DR   InParanoid; Q14774; -.
DR   KO; K09339; -.
DR   OrthoDB; EOG7FR7H1; -.
DR   PhylomeDB; Q14774; -.
DR   TreeFam; TF350735; -.
DR   GeneWiki; HLX_(gene); -.
DR   GenomeRNAi; 3142; -.
DR   NextBio; 12460; -.
DR   PRO; PR:Q14774; -.
DR   ArrayExpress; Q14774; -.
DR   Bgee; Q14774; -.
DR   CleanEx; HS_HLX; -.
DR   Genevestigator; Q14774; -.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
DR   GO; GO:0003700; F:sequence-specific DNA binding transcription factor activity; IEA:InterPro.
DR   GO; GO:0000976; F:transcription regulatory region sequence-specific DNA binding; IEA:InterPro.
DR   GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR   GO; GO:0048557; P:embryonic digestive tract morphogenesis; IEA:Ensembl.
DR   GO; GO:0048484; P:enteric nervous system development; IEA:Ensembl.
DR   GO; GO:0001889; P:liver development; IEA:Ensembl.
DR   GO; GO:0007275; P:multicellular organismal development; TAS:ProtInc.
DR   GO; GO:0045629; P:negative regulation of T-helper 2 cell differentiation; IEA:Ensembl.
DR   GO; GO:0008284; P:positive regulation of cell proliferation; IEA:Ensembl.
DR   GO; GO:0046622; P:positive regulation of organ growth; IEA:Ensembl.
DR   GO; GO:0045627; P:positive regulation of T-helper 1 cell differentiation; IEA:Ensembl.
DR   GO; GO:0007519; P:skeletal muscle tissue development; IEA:Ensembl.
DR   GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
DR   Gene3D; 1.10.10.60; -; 1.
DR   InterPro; IPR017970; Homeobox_CS.
DR   InterPro; IPR001356; Homeobox_dom.
DR   InterPro; IPR020479; Homeobox_metazoa.
DR   InterPro; IPR009057; Homeodomain-like.
DR   InterPro; IPR000047; HTH_motif.
DR   Pfam; PF00046; Homeobox; 1.
DR   PRINTS; PR00024; HOMEOBOX.
DR   PRINTS; PR00031; HTHREPRESSR.
DR   SMART; SM00389; HOX; 1.
DR   SUPFAM; SSF46689; SSF46689; 1.
DR   PROSITE; PS00027; HOMEOBOX_1; 1.
DR   PROSITE; PS50071; HOMEOBOX_2; 1.
PE   1: Evidence at protein level;
KW   Complete proteome; Differentiation; DNA-binding; Homeobox; Nucleus;
KW   Polymorphism; Reference proteome; Transcription;
KW   Transcription regulation.
FT   CHAIN         1    488       H2.0-like homeobox protein.
FT                                /FTId=PRO_0000048978.
FT   DNA_BIND    276    335       Homeobox.
FT   COMPBIAS     92    169       Pro-rich.
FT   COMPBIAS    125    137       Poly-Gln.
FT   COMPBIAS    366    454       Ser-rich.
FT   VARIANT     116    116       S -> P (in dbSNP:rs12141189).
FT                                /FTId=VAR_037162.
FT   VARIANT     356    356       P -> L (in dbSNP:rs2738755).
FT                                /FTId=VAR_037163.
FT   VARIANT     387    387       A -> G (in dbSNP:rs11578466).
FT                                /FTId=VAR_049582.
FT   CONFLICT     63     63       Missing (in Ref. 1; M60721).
FT   CONFLICT    134    136       QQQ -> RRE (in Ref. 1; M60721).
SQ   SEQUENCE   488 AA;  50789 MW;  FC2EA805DACAA0C1 CRC64;
     MFAAGLAPFY ASNFSLWSAA YCSSAGPGGC SFPLDPAAVK KPSFCIADIL HAGVGDLGAA
     PEGLAGASAA ALTAHLGSVH PHASFQAAAR SPLRPTPVVA PSEVPAGFPQ RLSPLSAAYH
     HHHPQQQQQQ QQPQQQQPPP PPRAGALQPP ASGTRVVPNP HHSGSAPAPS SKDLKFGIDR
     ILSAEFDPKV KEGNTLRDLT SLLTGGRPAG VHLSGLQPSA GQFFASLDPI NEASAILSPL
     NSNPRNSVQH QFQDTFPGPY AVLTKDTMPQ TYKRKRSWSR AVFSNLQRKG LEKRFEIQKY
     VTKPDRKQLA AMLGLTDAQV KVWFQNRRMK WRHSKEAQAQ KDKDKEAGEK PSGGAPAADG
     EQDERSPSRS EGEAESESSD SESLDMAPSD TERTEGSERS LHQTTVIKAP VTGALITASS
     AGSGGSSGGG GNSFSFSSAS SLSSSSTSAG CASSLGGGGA SELLPATQPT ASSAPKSPEP
     AQGALGCL
//
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