UniProtKB - Q14774 (HLX_HUMAN)
Protein
H2.0-like homeobox protein
Gene
HLX
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 276 – 335 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- sequence-specific DNA binding Source: MGI
GO - Biological processi
- cell differentiation Source: UniProtKB-KW
- embryonic digestive tract morphogenesis Source: Ensembl
- enteric nervous system development Source: Ensembl
- liver development Source: Ensembl
- multicellular organism development Source: ProtInc
- negative regulation of T-helper 2 cell differentiation Source: Ensembl
- positive regulation of cell population proliferation Source: Ensembl
- positive regulation of organ growth Source: Ensembl
- positive regulation of T-helper 1 cell differentiation Source: Ensembl
- skeletal muscle tissue development Source: Ensembl
Keywordsi
Molecular function | DNA-binding |
Biological process | Differentiation, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q14774 |
SIGNORi | Q14774 |
Names & Taxonomyi
Protein namesi | Recommended name: H2.0-like homeobox proteinAlternative name(s): Homeobox protein HB24 Homeobox protein HLX1 |
Gene namesi | Name:HLX Synonyms:HLX1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4978, HLX |
MIMi | 142995, gene |
neXtProti | NX_Q14774 |
VEuPathDBi | HostDB:ENSG00000136630.12 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 3142 |
MalaCardsi | HLX |
OpenTargetsi | ENSG00000136630 |
Orphaneti | 527468, Diaphragmatic hernia-short bowel-asplenia syndrome |
PharmGKBi | PA162391017 |
Miscellaneous databases
Pharosi | Q14774, Tbio |
Genetic variation databases
BioMutai | HLX |
DMDMi | 160291960 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048978 | 1 – 488 | H2.0-like homeobox proteinAdd BLAST | 488 |
Proteomic databases
MassIVEi | Q14774 |
MaxQBi | Q14774 |
PaxDbi | Q14774 |
PeptideAtlasi | Q14774 |
PRIDEi | Q14774 |
ProteomicsDBi | 60168 |
PTM databases
iPTMneti | Q14774 |
PhosphoSitePlusi | Q14774 |
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
Bgeei | ENSG00000136630, Expressed in bone marrow and 155 other tissues |
ExpressionAtlasi | Q14774, baseline and differential |
Genevisiblei | Q14774, HS |
Organism-specific databases
HPAi | ENSG00000136630, Tissue enhanced (bone) |
Interactioni
Binary interactionsi
Hide detailsQ14774
Protein-protein interaction databases
BioGRIDi | 109387, 30 interactors |
IntActi | Q14774, 25 interactors |
MINTi | Q14774 |
STRINGi | 9606.ENSP00000355870 |
Miscellaneous databases
RNActi | Q14774, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 92 – 169 | Pro-richAdd BLAST | 78 | |
Compositional biasi | 125 – 137 | Poly-GlnAdd BLAST | 13 | |
Compositional biasi | 366 – 454 | Ser-richAdd BLAST | 89 |
Sequence similaritiesi
Belongs to the H2.0 homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0488, Eukaryota |
GeneTreei | ENSGT00950000183093 |
HOGENOMi | CLU_043671_1_0_1 |
InParanoidi | Q14774 |
OMAi | PMNEASA |
OrthoDBi | 1596695at2759 |
PhylomeDBi | Q14774 |
TreeFami | TF350735 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR020479, Homeobox_metazoa IPR000047, HTH_motif |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00024, HOMEOBOX PR00031, HTHREPRESSR |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q14774-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketF8VWZ5 | F8VWZ5_HUMAN | H2.0-like homeobox protein | HLX | 151 | Annotation score: |
Sequence cautioni
The sequence BAD92049 differs from that shown. Reason: Frameshift.Curated
The sequence BAD92049 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence M60721 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 63 | Missing in M60721 (PubMed:1676597).Curated | 1 | |
Sequence conflicti | 134 – 136 | QQQ → RRE in M60721 (PubMed:1676597).Curated | 3 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037162 | 116 | S → P1 PublicationCorresponds to variant dbSNP:rs12141189Ensembl. | 1 | |
Natural variantiVAR_037163 | 356 | P → L1 PublicationCorresponds to variant dbSNP:rs2738755Ensembl. | 1 | |
Natural variantiVAR_049582 | 387 | A → 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 |
CCDSi | CCDS1527.1 |
PIRi | A55180 |
RefSeqi | NP_068777.1, NM_021958.3 |
Genome annotation databases
Ensembli | ENST00000366903; ENSP00000355870; ENSG00000136630 |
GeneIDi | 3142 |
KEGGi | hsa:3142 |
UCSCi | uc001hmv.5, human |
Similar proteinsi
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 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 |
CCDSi | CCDS1527.1 |
PIRi | A55180 |
RefSeqi | NP_068777.1, NM_021958.3 |
3D structure databases
SMRi | Q14774 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 109387, 30 interactors |
IntActi | Q14774, 25 interactors |
MINTi | Q14774 |
STRINGi | 9606.ENSP00000355870 |
PTM databases
iPTMneti | Q14774 |
PhosphoSitePlusi | Q14774 |
Genetic variation databases
BioMutai | HLX |
DMDMi | 160291960 |
Proteomic databases
MassIVEi | Q14774 |
MaxQBi | Q14774 |
PaxDbi | Q14774 |
PeptideAtlasi | Q14774 |
PRIDEi | Q14774 |
ProteomicsDBi | 60168 |
Protocols and materials databases
Antibodypediai | 910, 250 antibodies |
DNASUi | 3142 |
Genome annotation databases
Ensembli | ENST00000366903; ENSP00000355870; ENSG00000136630 |
GeneIDi | 3142 |
KEGGi | hsa:3142 |
UCSCi | uc001hmv.5, human |
Organism-specific databases
CTDi | 3142 |
DisGeNETi | 3142 |
GeneCardsi | HLX |
HGNCi | HGNC:4978, HLX |
HPAi | ENSG00000136630, Tissue enhanced (bone) |
MalaCardsi | HLX |
MIMi | 142995, gene |
neXtProti | NX_Q14774 |
OpenTargetsi | ENSG00000136630 |
Orphaneti | 527468, Diaphragmatic hernia-short bowel-asplenia syndrome |
PharmGKBi | PA162391017 |
VEuPathDBi | HostDB:ENSG00000136630.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0488, Eukaryota |
GeneTreei | ENSGT00950000183093 |
HOGENOMi | CLU_043671_1_0_1 |
InParanoidi | Q14774 |
OMAi | PMNEASA |
OrthoDBi | 1596695at2759 |
PhylomeDBi | Q14774 |
TreeFami | TF350735 |
Enzyme and pathway databases
PathwayCommonsi | Q14774 |
SIGNORi | Q14774 |
Miscellaneous databases
BioGRID-ORCSi | 3142, 9 hits in 1010 CRISPR screens |
GeneWikii | HLX_(gene) |
GenomeRNAii | 3142 |
Pharosi | Q14774, Tbio |
PROi | PR:Q14774 |
RNActi | Q14774, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136630, Expressed in bone marrow and 155 other tissues |
ExpressionAtlasi | Q14774, baseline and differential |
Genevisiblei | Q14774, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR020479, Homeobox_metazoa IPR000047, HTH_motif |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00024, HOMEOBOX PR00031, HTHREPRESSR |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HLX_HUMAN | |
Accessioni | Q14774Primary (citable) accession number: Q14774 Secondary accession number(s): B2R8A8 Q9NZ75 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 13, 2007 | |
Last modified: | April 7, 2021 | |
This is version 186 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families