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Protein

H2.0-like homeobox protein

Gene

HLX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi276 – 33560HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: MGI

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. embryonic digestive tract morphogenesis Source: Ensembl
  3. enteric nervous system development Source: Ensembl
  4. liver development Source: Ensembl
  5. multicellular organismal development Source: ProtInc
  6. negative regulation of T-helper 2 cell differentiation Source: Ensembl
  7. positive regulation of cell proliferation Source: Ensembl
  8. positive regulation of organ growth Source: Ensembl
  9. positive regulation of T-helper 1 cell differentiation Source: Ensembl
  10. regulation of transcription, DNA-templated Source: UniProtKB-KW
  11. skeletal muscle tissue development Source: Ensembl
  12. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
H2.0-like homeobox protein
Alternative name(s):
Homeobox protein HB24
Homeobox protein HLX1
Gene namesi
Name:HLX
Synonyms:HLX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:4978. HLX.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162391017.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 488488H2.0-like homeobox proteinPRO_0000048978Add
BLAST

Proteomic databases

MaxQBiQ14774.
PaxDbiQ14774.
PRIDEiQ14774.

PTM databases

PhosphoSiteiQ14774.

Expressioni

Tissue specificityi

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.

Gene expression databases

BgeeiQ14774.
CleanExiHS_HLX.
ExpressionAtlasiQ14774. baseline and differential.
GenevestigatoriQ14774.

Organism-specific databases

HPAiHPA005968.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SUZ12Q150222EBI-6678255,EBI-1264675

Protein-protein interaction databases

BioGridi109387. 2 interactions.
IntActiQ14774. 4 interactions.
STRINGi9606.ENSP00000355870.

Structurei

3D structure databases

ProteinModelPortaliQ14774.
SMRiQ14774. Positions 283-334.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi92 – 16978Pro-richAdd
BLAST
Compositional biasi125 – 13713Poly-GlnAdd
BLAST
Compositional biasi366 – 45489Ser-richAdd
BLAST

Sequence similaritiesi

Belongs to the H2.0 homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG331357.
GeneTreeiENSGT00780000121911.
HOGENOMiHOG000112911.
HOVERGENiHBG000457.
InParanoidiQ14774.
KOiK09339.
OrthoDBiEOG7FR7H1.
PhylomeDBiQ14774.
TreeFamiTF350735.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q14774-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFAAGLAPFY ASNFSLWSAA YCSSAGPGGC SFPLDPAAVK KPSFCIADIL
60 70 80 90 100
HAGVGDLGAA PEGLAGASAA ALTAHLGSVH PHASFQAAAR SPLRPTPVVA
110 120 130 140 150
PSEVPAGFPQ RLSPLSAAYH HHHPQQQQQQ QQPQQQQPPP PPRAGALQPP
160 170 180 190 200
ASGTRVVPNP HHSGSAPAPS SKDLKFGIDR ILSAEFDPKV KEGNTLRDLT
210 220 230 240 250
SLLTGGRPAG VHLSGLQPSA GQFFASLDPI NEASAILSPL NSNPRNSVQH
260 270 280 290 300
QFQDTFPGPY AVLTKDTMPQ TYKRKRSWSR AVFSNLQRKG LEKRFEIQKY
310 320 330 340 350
VTKPDRKQLA AMLGLTDAQV KVWFQNRRMK WRHSKEAQAQ KDKDKEAGEK
360 370 380 390 400
PSGGAPAADG EQDERSPSRS EGEAESESSD SESLDMAPSD TERTEGSERS
410 420 430 440 450
LHQTTVIKAP VTGALITASS AGSGGSSGGG GNSFSFSSAS SLSSSSTSAG
460 470 480
CASSLGGGGA SELLPATQPT ASSAPKSPEP AQGALGCL
Length:488
Mass (Da):50,789
Last modified:November 12, 2007 - v3
Checksum:iFC2EA805DACAA0C1
GO

Sequence cautioni

The sequence BAD92049.1 differs from that shown. Reason: Frameshift at positions 198, 259 and 321. Curated
The sequence BAD92049.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence M60721 differs from that shown. Reason: Frameshift at positions 69, 115, 152 and 167. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti63 – 631Missing in M60721 (PubMed:1676597).Curated
Sequence conflicti134 – 1363QQQ → RRE in M60721 (PubMed:1676597).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti116 – 1161S → P.1 Publication
Corresponds to variant rs12141189 [ dbSNP | Ensembl ].
VAR_037162
Natural varianti356 – 3561P → L.1 Publication
Corresponds to variant rs2738755 [ dbSNP | Ensembl ].
VAR_037163
Natural varianti387 – 3871A → G.
Corresponds to variant rs11578466 [ dbSNP | Ensembl ].
VAR_049582

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1527.1.
PIRiA55180.
RefSeqiNP_068777.1. NM_021958.3.
UniGeneiHs.74870.

Genome annotation databases

EnsembliENST00000366903; ENSP00000355870; ENSG00000136630.
GeneIDi3142.
KEGGihsa:3142.
UCSCiuc001hmv.4. human.

Polymorphism databases

DMDMi160291960.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1527.1.
PIRiA55180.
RefSeqiNP_068777.1. NM_021958.3.
UniGeneiHs.74870.

3D structure databases

ProteinModelPortaliQ14774.
SMRiQ14774. Positions 283-334.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109387. 2 interactions.
IntActiQ14774. 4 interactions.
STRINGi9606.ENSP00000355870.

PTM databases

PhosphoSiteiQ14774.

Polymorphism databases

DMDMi160291960.

Proteomic databases

MaxQBiQ14774.
PaxDbiQ14774.
PRIDEiQ14774.

Protocols and materials databases

DNASUi3142.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366903; ENSP00000355870; ENSG00000136630.
GeneIDi3142.
KEGGihsa:3142.
UCSCiuc001hmv.4. human.

Organism-specific databases

CTDi3142.
GeneCardsiGC01P221052.
H-InvDBHIX0001609.
HGNCiHGNC:4978. HLX.
HPAiHPA005968.
MIMi142995. gene.
neXtProtiNX_Q14774.
PharmGKBiPA162391017.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG331357.
GeneTreeiENSGT00780000121911.
HOGENOMiHOG000112911.
HOVERGENiHBG000457.
InParanoidiQ14774.
KOiK09339.
OrthoDBiEOG7FR7H1.
PhylomeDBiQ14774.
TreeFamiTF350735.

Miscellaneous databases

GeneWikiiHLX_(gene).
GenomeRNAii3142.
NextBioi12460.
PROiQ14774.
SOURCEiSearch...

Gene expression databases

BgeeiQ14774.
CleanExiHS_HLX.
ExpressionAtlasiQ14774. baseline and differential.
GenevestigatoriQ14774.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(1990) [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 (NOV-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(2003) [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 (FEB-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(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. 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(2003) [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(1993) [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(1992) [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(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiHLX_HUMAN
AccessioniPrimary (citable) accession number: Q14774
Secondary accession number(s): B2R8A8
, Q15988, Q59HE7, Q9NZ75
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 1997
Last sequence update: November 12, 2007
Last modified: March 3, 2015
This is version 136 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.