Q14774 (HLX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
H2.0-like homeobox protein

Alternative name(s):
Homeobox protein HB24
Homeobox protein HLX1

Gene names

Name:	HLX
Synonyms:	HLX1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	488 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression. Involved in embryogenesis and hematopoiesis By similarity.
Subcellular location	Nucleus Potential.
Tissue specificity	Low level in normal B and T-cells, high level in activated lymphocytes and monocytes. Also found in thymus, tonsil, bone marrow, developing vessels, and fetal brain.
Sequence similarities	Belongs to the H2.0 homeobox family. Contains 1 homeobox DNA-binding domain.
Sequence caution	The sequence BAD92049.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAD92049.1 differs from that shown. Reason: Frameshift at positions 198, 259 and 321. The sequence M60721 differs from that shown. Reason: Frameshift at positions 69, 115, 152 and 167.

Ontologies

Keywords
Biological process	Differentiation Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW embryonic digestive tract morphogenesis Inferred from electronic annotation. Source: Compara enteric nervous system development Inferred from electronic annotation. Source: Compara liver development Inferred from electronic annotation. Source: Compara multicellular organismal development Traceable author statement PubMed 8094082. Source: ProtInc negative regulation of T-helper 2 cell differentiation Inferred from electronic annotation. Source: Compara positive regulation of T-helper 1 cell differentiation Inferred from electronic annotation. Source: Compara positive regulation of cell proliferation Inferred from electronic annotation. Source: Compara positive regulation of organ growth Inferred from electronic annotation. Source: Compara skeletal muscle tissue development Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from direct assay PubMed 9073066. Source: MGI sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro transcription regulatory region sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 488	488	H2.0-like homeobox protein		PRO_0000048978
Regions
	DNA binding	276 – 335	60	Homeobox
	Compositional bias	92 – 169	78	Pro-rich
	Compositional bias	125 – 137	13	Poly-Gln
	Compositional bias	366 – 454	89	Ser-rich
Natural variations
	Natural variant	116	1	S → P. Ref.8 Corresponds to variant rs12141189 [ dbSNP | Ensembl ].		VAR_037162
	Natural variant	356	1	P → L. Ref.4 Corresponds to variant rs2738755 [ dbSNP | Ensembl ].		VAR_037163
	Natural variant	387	1	A → G. Corresponds to variant rs11578466 [ dbSNP | Ensembl ].		VAR_049582
Experimental info
	Sequence conflict	63	1	Missing in M60721. Ref.1
	Sequence conflict	134 – 136	3	QQQ → RRE in M60721. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q14774 [UniParc]. Last modified November 13, 2007. Version 3. Checksum: FC2EA805DACAA0C1	FASTA	488	50,789
	10 20 30 40 50 60 MFAAGLAPFY ASNFSLWSAA YCSSAGPGGC SFPLDPAAVK KPSFCIADIL HAGVGDLGAA 70 80 90 100 110 120 PEGLAGASAA ALTAHLGSVH PHASFQAAAR SPLRPTPVVA PSEVPAGFPQ RLSPLSAAYH 130 140 150 160 170 180 HHHPQQQQQQ QQPQQQQPPP PPRAGALQPP ASGTRVVPNP HHSGSAPAPS SKDLKFGIDR 190 200 210 220 230 240 ILSAEFDPKV KEGNTLRDLT SLLTGGRPAG VHLSGLQPSA GQFFASLDPI NEASAILSPL 250 260 270 280 290 300 NSNPRNSVQH QFQDTFPGPY AVLTKDTMPQ TYKRKRSWSR AVFSNLQRKG LEKRFEIQKY 310 320 330 340 350 360 VTKPDRKQLA AMLGLTDAQV KVWFQNRRMK WRHSKEAQAQ KDKDKEAGEK PSGGAPAADG 370 380 390 400 410 420 EQDERSPSRS EGEAESESSD SESLDMAPSD TERTEGSERS LHQTTVIKAP VTGALITASS 430 440 450 460 470 480 AGSGGSSGGG GNSFSFSSAS SLSSSSTSAG CASSLGGGGA SELLPATQPT ASSAPKSPEP AQGALGCL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of a human homeobox gene that resembles a diverged Drosophila homeobox gene and is expressed in activated lymphocytes." Deguchi Y., Moroney J.F., Wilson G.L., Fox C.H., Winter H.S., Kehrl J.H. New Biol. 3:353-363(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: B-cell.
[2]	"Genomic sequence of human homeobox gene HLX1." Hanrahan V., Kennedy M.A. Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Small intestine.
[4]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-356. Tissue: Brain.
[5]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Retina.
[8]	"Genomic structure, promoter sequence, and revised translation of human homeobox gene HLX1." Kennedy M.A., Rayner J.C., Morris C.M. Genomics 22:348-355(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-326, VARIANT PRO-116.
[9]	"Linkage localization of TGFB2 and the human homeobox gene HLX1 to chromosome 1q." Nishimura D.Y., Purchio A.F., Murray J.C. Genomics 15:357-364(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 350-369.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M60721 mRNA. No translation available. AF217621 Genomic DNA. Translation: AAF65541.1. AK313298 mRNA. Translation: BAG36105.1. AB208812 mRNA. Translation: BAD92049.1. Sequence problems. AL445423 Genomic DNA. Translation: CAH72120.1. CH471100 Genomic DNA. Translation: EAW93289.1. BC007294 mRNA. Translation: AAH07294.1. BC033808 mRNA. Translation: AAH33808.1. U14328 , U14325, U14326, U14327 Genomic DNA. Translation: AAC51346.1. S56767 Genomic DNA. Translation: AAD13883.1.
IPI	IPI00292164.
PIR	A55180.
RefSeq	NP_068777.1. NM_021958.3.
UniGene	Hs.74870.
3D structure databases
ProteinModelPortal	Q14774.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000355870.
PTM databases
PhosphoSite	Q14774.
Polymorphism databases
DMDM	160291960.
Proteomic databases
PaxDb	Q14774.
PRIDE	Q14774.
Protocols and materials databases
DNASU	3142.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000366903; ENSP00000355870; ENSG00000136630.
GeneID	3142.
KEGG	hsa:3142.
UCSC	uc001hmv.4. human.
Organism-specific databases
CTD	3142.
GeneCards	GC01P221052.
H-InvDB	HIX0001609.
HGNC	HGNC:4978. HLX.
HPA	HPA005968.
MIM	142995. gene.
neXtProt	NX_Q14774.
PharmGKB	PA162391017.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG331357.
HOGENOM	HOG000112911.
HOVERGEN	HBG000457.
InParanoid	Q14774.
KO	K09339.
OrthoDB	EOG473PRM.
PhylomeDB	Q14774.
Enzyme and pathway databases
Pathway_Interaction_DB	il12_2pathway. IL12-mediated signaling events.
Gene expression databases
ArrayExpress	Q14774.
Bgee	Q14774.
CleanEx	HS_HLX.
Genevestigator	Q14774.
GermOnline	ENSG00000136630. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR000047. HTH_motif. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX. PR00031. HTHREPRESSR.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	3142.
NextBio	12460.
SOURCE	Search...

Entry information

Entry name

HLX_HUMAN

Accession

Primary (citable) accession number: Q14774
Secondary accession number(s): B2R8A8 , Q15988, Q59HE7, Q9NZ75

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 13, 2007
Last modified:	May 1, 2013
This is version 121 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.