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Q14774 (HLX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
H2.0-like homeobox protein
Alternative name(s):
Homeobox protein HB24
Homeobox protein HLX1
Gene names
Name:HLX
Synonyms:HLX1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length488 AA.
Sequence statusComplete.
Protein existenceEvidence at protein 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 processDifferentiation
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DomainHomeobox
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

embryonic digestive tract morphogenesis

Inferred from electronic annotation. Source: Ensembl

enteric nervous system development

Inferred from electronic annotation. Source: Ensembl

liver development

Inferred from electronic annotation. Source: Ensembl

multicellular organismal development

Traceable author statement PubMed 8094082. Source: ProtInc

negative regulation of T-helper 2 cell differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of T-helper 1 cell differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of organ growth

Inferred from electronic annotation. Source: Ensembl

skeletal muscle tissue development

Inferred from electronic annotation. Source: Ensembl

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionsequence-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...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

SUZ12Q150222EBI-6678255,EBI-1264675

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 488488H2.0-like homeobox protein
PRO_0000048978

Regions

DNA binding276 – 33560Homeobox
Compositional bias92 – 16978Pro-rich
Compositional bias125 – 13713Poly-Gln
Compositional bias366 – 45489Ser-rich

Natural variations

Natural variant1161S → P. Ref.8
Corresponds to variant rs12141189 [ dbSNP | Ensembl ].
VAR_037162
Natural variant3561P → L. Ref.4
Corresponds to variant rs2738755 [ dbSNP | Ensembl ].
VAR_037163
Natural variant3871A → G.
Corresponds to variant rs11578466 [ dbSNP | Ensembl ].
VAR_049582

Experimental info

Sequence conflict631Missing in M60721. Ref.1
Sequence conflict134 – 1363QQQ → RRE in M60721. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q14774 [UniParc].

Last modified November 13, 2007. Version 3.
Checksum: FC2EA805DACAA0C1

FASTA48850,789
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
[10]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+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 expand/collapse EMBL AC list , U14325, U14326, U14327 Genomic DNA. Translation: AAC51346.1.
S56767 Genomic DNA. Translation: AAD13883.1.
PIRA55180.
RefSeqNP_068777.1. NM_021958.3.
UniGeneHs.74870.

3D structure databases

ProteinModelPortalQ14774.
SMRQ14774. Positions 283-334.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109387. 1 interaction.
IntActQ14774. 4 interactions.
STRING9606.ENSP00000355870.

PTM databases

PhosphoSiteQ14774.

Polymorphism databases

DMDM160291960.

Proteomic databases

PaxDbQ14774.
PRIDEQ14774.

Protocols and materials databases

DNASU3142.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000366903; ENSP00000355870; ENSG00000136630.
GeneID3142.
KEGGhsa:3142.
UCSCuc001hmv.4. human.

Organism-specific databases

CTD3142.
GeneCardsGC01P221052.
H-InvDBHIX0001609.
HGNCHGNC:4978. HLX.
HPAHPA005968.
MIM142995. gene.
neXtProtNX_Q14774.
PharmGKBPA162391017.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG331357.
HOGENOMHOG000112911.
HOVERGENHBG000457.
InParanoidQ14774.
KOK09339.
OrthoDBEOG7FR7H1.
PhylomeDBQ14774.
TreeFamTF350735.

Gene expression databases

ArrayExpressQ14774.
BgeeQ14774.
CleanExHS_HLX.
GenevestigatorQ14774.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiHLX_(gene).
GenomeRNAi3142.
NextBio12460.
PROQ14774.
SOURCESearch...

Entry information

Entry nameHLX_HUMAN
AccessionPrimary (citable) accession number: Q14774
Secondary accession number(s): B2R8A8 expand/collapse secondary AC list , Q15988, Q59HE7, Q9NZ75
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 13, 2007
Last modified: February 19, 2014
This is version 127 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM