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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)DescriptionActionsGraphical viewLength
DNA bindingi276 – 335HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • sequence-specific DNA binding Source: MGI

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000136630.12.
HGNCiHGNC:4978. HLX.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi3142.
OpenTargetsiENSG00000136630.
PharmGKBiPA162391017.

Polymorphism and mutation databases

BioMutaiHLX.
DMDMi160291960.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000489781 – 488H2.0-like homeobox proteinAdd BLAST488

Proteomic databases

MaxQBiQ14774.
PaxDbiQ14774.
PeptideAtlasiQ14774.
PRIDEiQ14774.

PTM databases

iPTMnetiQ14774.
PhosphoSitePlusiQ14774.

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

BgeeiENSG00000136630.
CleanExiHS_HLX.
ExpressionAtlasiQ14774. baseline and differential.
GenevisibleiQ14774. HS.

Organism-specific databases

HPAiHPA005968.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi109387. 17 interactors.
IntActiQ14774. 5 interactors.
STRINGi9606.ENSP00000355870.

Structurei

3D structure databases

ProteinModelPortaliQ14774.
SMRiQ14774.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi92 – 169Pro-richAdd BLAST78
Compositional biasi125 – 137Poly-GlnAdd BLAST13
Compositional biasi366 – 454Ser-richAdd BLAST89

Sequence similaritiesi

Belongs to the H2.0 homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0488. Eukaryota.
ENOG411188D. LUCA.
GeneTreeiENSGT00890000139333.
HOGENOMiHOG000112911.
HOVERGENiHBG000457.
InParanoidiQ14774.
KOiK09339.
OMAiGQHQFQD.
OrthoDBiEOG091G0MD1.
PhylomeDBiQ14774.
TreeFamiTF350735.

Family and domain databases

CDDicd00086. homeodomain. 1 hit.
InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR000047. HTH_motif.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.

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 13, 2007 - v3
Checksum:iFC2EA805DACAA0C1
GO

Sequence cautioni

The sequence BAD92049 differs from that shown. Reason: Frameshift at positions 198, 259 and 321.Curated
The sequence BAD92049 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)DescriptionActionsGraphical viewLength
Sequence conflicti63Missing in M60721 (PubMed:1676597).Curated1
Sequence conflicti134 – 136QQQ → RRE in M60721 (PubMed:1676597).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037162116S → P1 PublicationCorresponds to variant dbSNP:rs12141189Ensembl.1
Natural variantiVAR_037163356P → L1 PublicationCorresponds to variant dbSNP:rs2738755Ensembl.1
Natural variantiVAR_049582387A → G. Corresponds to variant dbSNP:rs11578466Ensembl.1

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. No translation available.
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.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHLX_HUMAN
AccessioniPrimary (citable) accession number: Q14774
Secondary accession number(s): B2R8A8
, Q15988, Q59HE7, Q9NZ75
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 13, 2007
Last modified: September 27, 2017
This is version 160 of the entry and version 3 of the sequence. See 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