HLX_HUMAN
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 03-AUG-2022, entry version 191.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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., 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., 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 [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., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., 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., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., 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., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., 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., 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 [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 project:
RT 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 human
RT 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., 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: Transcription factor required for TBX21/T-bet-dependent
CC maturation of Th1 cells as well as maintenance of Th1-specific gene
CC expression. Involved in embryogenesis and hematopoiesis (By
CC similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q14774; P0C7T5: ATXN1L; NbExp=3; IntAct=EBI-6678255, EBI-8624731;
CC Q14774; Q9NWQ9: C14orf119; NbExp=3; IntAct=EBI-6678255, EBI-725606;
CC Q14774; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-6678255, EBI-3867333;
CC Q14774; Q86UW9: DTX2; NbExp=3; IntAct=EBI-6678255, EBI-740376;
CC Q14774; O75593: FOXH1; NbExp=3; IntAct=EBI-6678255, EBI-1759806;
CC Q14774; Q17RB8: LONRF1; NbExp=3; IntAct=EBI-6678255, EBI-2341787;
CC Q14774; Q9BRT3: MIEN1; NbExp=3; IntAct=EBI-6678255, EBI-6137472;
CC Q14774; P86480: PRR20D; NbExp=3; IntAct=EBI-6678255, EBI-12754095;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- TISSUE SPECIFICITY: Low level in normal B and T-cells, high level in
CC activated lymphocytes and monocytes. Also found in thymus, tonsil, bone
CC marrow, developing vessels, and fetal brain.
CC -!- SIMILARITY: Belongs to the H2.0 homeobox family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAD92049.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAD92049.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=M60721; Type=Frameshift; Evidence={ECO:0000305};
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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; -; NOT_ANNOTATED_CDS; 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 CCDS; CCDS1527.1; -.
DR PIR; A55180; A55180.
DR RefSeq; NP_068777.1; NM_021958.3.
DR AlphaFoldDB; Q14774; -.
DR SMR; Q14774; -.
DR BioGRID; 109387; 37.
DR IntAct; Q14774; 25.
DR MINT; Q14774; -.
DR STRING; 9606.ENSP00000355870; -.
DR iPTMnet; Q14774; -.
DR PhosphoSitePlus; Q14774; -.
DR BioMuta; HLX; -.
DR DMDM; 160291960; -.
DR MassIVE; Q14774; -.
DR MaxQB; Q14774; -.
DR PaxDb; Q14774; -.
DR PeptideAtlas; Q14774; -.
DR PRIDE; Q14774; -.
DR ProteomicsDB; 60168; -.
DR Antibodypedia; 910; 257 antibodies from 32 providers.
DR DNASU; 3142; -.
DR Ensembl; ENST00000366903.8; ENSP00000355870.5; ENSG00000136630.13.
DR GeneID; 3142; -.
DR KEGG; hsa:3142; -.
DR MANE-Select; ENST00000366903.8; ENSP00000355870.5; NM_021958.4; NP_068777.1.
DR UCSC; uc001hmv.5; human.
DR CTD; 3142; -.
DR DisGeNET; 3142; -.
DR GeneCards; HLX; -.
DR HGNC; HGNC:4978; HLX.
DR HPA; ENSG00000136630; Tissue enhanced (bone).
DR MalaCards; HLX; -.
DR MIM; 142995; gene.
DR neXtProt; NX_Q14774; -.
DR OpenTargets; ENSG00000136630; -.
DR Orphanet; 527468; Diaphragmatic hernia-short bowel-asplenia syndrome.
DR PharmGKB; PA162391017; -.
DR VEuPathDB; HostDB:ENSG00000136630; -.
DR eggNOG; KOG0488; Eukaryota.
DR GeneTree; ENSGT00950000183093; -.
DR HOGENOM; CLU_043671_1_0_1; -.
DR InParanoid; Q14774; -.
DR OMA; EPMNEAS; -.
DR OrthoDB; 1596695at2759; -.
DR PhylomeDB; Q14774; -.
DR TreeFam; TF350735; -.
DR PathwayCommons; Q14774; -.
DR SignaLink; Q14774; -.
DR SIGNOR; Q14774; -.
DR BioGRID-ORCS; 3142; 15 hits in 1096 CRISPR screens.
DR GeneWiki; HLX_(gene); -.
DR GenomeRNAi; 3142; -.
DR Pharos; Q14774; Tbio.
DR PRO; PR:Q14774; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q14774; protein.
DR Bgee; ENSG00000136630; Expressed in stromal cell of endometrium and 99 other tissues.
DR ExpressionAtlas; Q14774; baseline and differential.
DR Genevisible; Q14774; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
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:0050673; P:epithelial cell proliferation; IEA:Ensembl.
DR GO; GO:0001889; P:liver development; IEA:Ensembl.
DR GO; GO:0045629; P:negative regulation of T-helper 2 cell differentiation; IEA:Ensembl.
DR GO; GO:0035265; P:organ growth; IEA:Ensembl.
DR GO; GO:0050679; P:positive regulation of epithelial 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:0007165; P:signal transduction; TAS:ProtInc.
DR GO; GO:0007519; P:skeletal muscle tissue development; IEA:Ensembl.
DR GO; GO:0045063; P:T-helper 1 cell differentiation; IEA:Ensembl.
DR GO; GO:0045064; P:T-helper 2 cell differentiation; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR InterPro; IPR000047; HTH_motif.
DR Pfam; PF00046; Homeodomain; 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 Differentiation; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..488
FT /note="H2.0-like homeobox protein"
FT /id="PRO_0000048978"
FT DNA_BIND 276..335
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 118..173
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 331..488
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 331..350
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 362..376
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 416..454
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 116
FT /note="S -> P (in dbSNP:rs12141189)"
FT /evidence="ECO:0000269|PubMed:7806220"
FT /id="VAR_037162"
FT VARIANT 356
FT /note="P -> L (in dbSNP:rs2738755)"
FT /evidence="ECO:0000269|Ref.4"
FT /id="VAR_037163"
FT VARIANT 387
FT /note="A -> G (in dbSNP:rs11578466)"
FT /id="VAR_049582"
FT CONFLICT 63
FT /note="Missing (in Ref. 1; M60721)"
FT /evidence="ECO:0000305"
FT CONFLICT 134..136
FT /note="QQQ -> RRE (in Ref. 1; M60721)"
FT /evidence="ECO:0000305"
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
