LOCUS NP_068777 488 aa linear PRI 25-DEC-2022
DEFINITION H2.0-like homeobox protein [Homo sapiens].
ACCESSION NP_068777
VERSION NP_068777.1
DBSOURCE REFSEQ: accession NM_021958.4
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 488)
AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
MA.
TITLE A reference map of the human binary protein interactome
JOURNAL Nature 580 (7803), 402-408 (2020)
PUBMED 32296183
REFERENCE 2 (residues 1 to 488)
AUTHORS Nagel S, Uphoff CC, Dirks WG, Pommerenke C, Meyer C and Drexler HG.
TITLE Epstein-Barr virus (EBV) activates NKL homeobox gene HLX in DLBCL
JOURNAL PLoS One 14 (5), e0216898 (2019)
PUBMED 31141539
REMARK GeneRIF: Epstein-Barr virus (EBV) activates NKL homeobox gene HLX
in DLBCL.
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 488)
AUTHORS Piragyte I, Clapes T, Polyzou A, Klein Geltink RI, Lefkopoulos S,
Yin N, Cauchy P, Curtis JD, Klaeyle L, Langa X, Beckmann CCA,
Wlodarski MW, Muller P, Van Essen D, Rambold A, Kapp FG, Mione M,
Buescher JM, Pearce EL, Polyzos A and Trompouki E.
TITLE A metabolic interplay coordinated by HLX regulates myeloid
differentiation and AML through partly overlapping pathways
JOURNAL Nat Commun 9 (1), 3090 (2018)
PUBMED 30082823
REMARK GeneRIF: HLX has a role in coordinating metabolic interplay
regulates myeloid differentiation both in zebrafish and human
hematopoietic stem and progenitor cells and in acute myeloid
leukemia through partly overlapping pathways
Publication Status: Online-Only
REFERENCE 4 (residues 1 to 488)
AUTHORS Yuen N, Brennecke SP, Umstad MP, Yong HEJ, Borg AJ, Rajaraman G,
Kalionis B and Murthi P.
TITLE Expression of Homeobox Gene HLX and its Downstream Target Genes are
Altered in Placentae From Discordant Twin Pregnancies
JOURNAL Twin Res Hum Genet 21 (1), 42-50 (2018)
PUBMED 29212571
REMARK GeneRIF: An important association between HLX transcription factor
expression and abnormal human placental development in discordant
twin pregnancies.
REFERENCE 5 (residues 1 to 488)
AUTHORS Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T,
Chong K, Sirkin WL, Scherer SW, Berube-Simard FA and Pilon N.
TITLE HLX is a candidate gene for a pattern of anomalies associated with
congenital diaphragmatic hernia, short bowel, and asplenia
JOURNAL Am J Med Genet A 173 (11), 3070-3074 (2017)
PUBMED 28898547
REMARK GeneRIF: HLX is a homeobox transcription factor gene which is
relatively conserved across species. Hlx homozygous null mice have
a short bowel and reduced muscle cells in the diaphragm, closely
resembling the anomalies in the two fetuses and we therefore
suggest that the HLX mutation in this family could explain the
fetal findings
REFERENCE 6 (residues 1 to 488)
AUTHORS Najfeld V, Menninger J, Ballard SG, Deguchi Y, Ward DC and Kehrl
JH.
TITLE Two diverged human homeobox genes involved in the differentiation
of human hematopoietic progenitors map to chromosome 1, bands
q41-42.1
JOURNAL Genes Chromosomes Cancer 5 (4), 343-347 (1992)
PUBMED 1283323
REFERENCE 7 (residues 1 to 488)
AUTHORS Deguchi Y, Kirschenbaum A and Kehrl JH.
TITLE A diverged homeobox gene is involved in the proliferation and
lineage commitment of human hematopoietic progenitors and highly
expressed in acute myelogenous leukemia
JOURNAL Blood 79 (11), 2841-2848 (1992)
PUBMED 1375114
REFERENCE 8 (residues 1 to 488)
AUTHORS Deguchi Y, Thevenin C and Kehrl JH.
TITLE Stable expression of HB24, a diverged human homeobox gene, in T
lymphocytes induces genes involved in T cell activation and growth
JOURNAL J Biol Chem 267 (12), 8222-8229 (1992)
PUBMED 1349016
REFERENCE 9 (residues 1 to 488)
AUTHORS Deguchi Y, Moroney JF, Wilson GL, Fox CH, Winter HS and Kehrl JH.
TITLE Cloning of a human homeobox gene that resembles a diverged
Drosophila homeobox gene and is expressed in activated lymphocytes
JOURNAL New Biol 3 (4), 353-363 (1991)
PUBMED 1676597
REFERENCE 10 (residues 1 to 488)
AUTHORS Allen JD, Lints T, Jenkins NA, Copeland NG, Strasser A, Harvey RP
and Adams JM.
TITLE Novel murine homeo box gene on chromosome 1 expressed in specific
hematopoietic lineages and during embryogenesis
JOURNAL Genes Dev 5 (4), 509-520 (1991)
PUBMED 1672660
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA951303.1 and BC033808.1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK127923.1, BC007294.1 [ECO:0000332]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000366903.8/ ENSP00000355870.5
RefSeq Select criteria :: based on single protein-coding transcript
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..488
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q41"
Protein 1..488
/product="H2.0-like homeobox protein"
/note="H2.0-like homeo box-1; H2.0-like homeobox 1;
homeobox protein HB24; homeobox protein HLX1"
/calculated_mol_wt=50658
Region 118..173
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q14774.3)"
Region 227..>344
/region_name="COG5576"
/note="Homeodomain-containing transcription factor
[Transcription]"
/db_xref="CDD:227863"
Site order(273..277,283,300,306,319,321..322,325..326,328..330,
332..333)
/site_type="DNA binding"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:238039"
Site order(275,282,322,325..326,329)
/site_type="other"
/note="specific DNA base contacts [nucleotide binding]"
/db_xref="CDD:238039"
Region 279..332
/region_name="Homeobox"
/note="Homeobox domain; pfam00046"
/db_xref="CDD:425441"
Region 331..488
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q14774.3)"
CDS 1..488
/gene="HLX"
/gene_synonym="HB24; HLX1"
/coded_by="NM_021958.4:416..1882"
/db_xref="CCDS:CCDS1527.1"
/db_xref="GeneID:3142"
/db_xref="HGNC:HGNC:4978"
/db_xref="MIM:142995"
ORIGIN
1 mfaaglapfy asnfslwsaa ycssagpggc sfpldpaavk kpsfciadil hagvgdlgaa
61 peglagasaa altahlgsvh phasfqaaar splrptpvva psevpagfpq rlsplsaayh
121 hhhpqqqqqq qqpqqqqppp ppragalqpp asgtrvvpnp hhsgsapaps skdlkfgidr
181 ilsaefdpkv kegntlrdlt slltggrpag vhlsglqpsa gqffasldpi neasailspl
241 nsnprnsvqh qfqdtfpgpy avltkdtmpq tykrkrswsr avfsnlqrkg lekrfeiqky
301 vtkpdrkqla amlgltdaqv kvwfqnrrmk wrhskeaqaq kdkdkeagek psggapaadg
361 eqderspsrs egeaesessd sesldmapsd tertegsers lhqttvikap vtgalitass
421 agsggssggg gnsfsfssas slsssstsag casslgggga sellpatqpt assapkspep
481 aqgalgcl
//
