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Q14774

- HLX_HUMAN

UniProt

Q14774 - HLX_HUMAN

Protein

H2.0-like homeobox protein

Gene

HLX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 3 (13 Nov 2007)
      Previous versions | rss
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    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. protein binding Source: IntAct
    2. sequence-specific DNA binding Source: MGI
    3. sequence-specific DNA binding transcription factor activity Source: InterPro
    4. transcription regulatory region sequence-specific DNA binding Source: InterPro

    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. skeletal muscle tissue development Source: Ensembl
    11. transcription, DNA-templated Source: UniProtKB-KW

    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: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:4978. HLX.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    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

    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

    ArrayExpressiQ14774.
    BgeeiQ14774.
    CleanExiHS_HLX.
    GenevestigatoriQ14774.

    Organism-specific databases

    HPAiHPA005968.

    Interactioni

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi109387. 1 interaction.
    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.
    HOGENOMiHOG000112911.
    HOVERGENiHBG000457.
    InParanoidiQ14774.
    KOiK09339.
    OMAiCIIAMIL.
    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

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    MFAAGLAPFY ASNFSLWSAA YCSSAGPGGC SFPLDPAAVK KPSFCIADIL    50
    HAGVGDLGAA PEGLAGASAA ALTAHLGSVH PHASFQAAAR SPLRPTPVVA 100
    PSEVPAGFPQ RLSPLSAAYH HHHPQQQQQQ QQPQQQQPPP PPRAGALQPP 150
    ASGTRVVPNP HHSGSAPAPS SKDLKFGIDR ILSAEFDPKV KEGNTLRDLT 200
    SLLTGGRPAG VHLSGLQPSA GQFFASLDPI NEASAILSPL NSNPRNSVQH 250
    QFQDTFPGPY AVLTKDTMPQ TYKRKRSWSR AVFSNLQRKG LEKRFEIQKY 300
    VTKPDRKQLA AMLGLTDAQV KVWFQNRRMK WRHSKEAQAQ KDKDKEAGEK 350
    PSGGAPAADG EQDERSPSRS EGEAESESSD SESLDMAPSD TERTEGSERS 400
    LHQTTVIKAP VTGALITASS AGSGGSSGGG GNSFSFSSAS SLSSSSTSAG 450
    CASSLGGGGA SELLPATQPT ASSAPKSPEP AQGALGCL 488
    Length:488
    Mass (Da):50,789
    Last modified:November 13, 2007 - v3
    Checksum:iFC2EA805DACAA0C1
    GO

    Sequence cautioni

    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.
    The sequence BAD92049.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS1527.1.
    PIRi A55180.
    RefSeqi NP_068777.1. NM_021958.3.
    UniGenei Hs.74870.

    3D structure databases

    ProteinModelPortali Q14774.
    SMRi Q14774. Positions 283-334.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109387. 1 interaction.
    IntActi Q14774. 4 interactions.
    STRINGi 9606.ENSP00000355870.

    PTM databases

    PhosphoSitei Q14774.

    Polymorphism databases

    DMDMi 160291960.

    Proteomic databases

    PaxDbi Q14774.
    PRIDEi Q14774.

    Protocols and materials databases

    DNASUi 3142.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000366903 ; ENSP00000355870 ; ENSG00000136630 .
    GeneIDi 3142.
    KEGGi hsa:3142.
    UCSCi uc001hmv.4. human.

    Organism-specific databases

    CTDi 3142.
    GeneCardsi GC01P221052.
    H-InvDB HIX0001609.
    HGNCi HGNC:4978. HLX.
    HPAi HPA005968.
    MIMi 142995. gene.
    neXtProti NX_Q14774.
    PharmGKBi PA162391017.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG331357.
    HOGENOMi HOG000112911.
    HOVERGENi HBG000457.
    InParanoidi Q14774.
    KOi K09339.
    OMAi CIIAMIL.
    OrthoDBi EOG7FR7H1.
    PhylomeDBi Q14774.
    TreeFami TF350735.

    Miscellaneous databases

    GeneWikii HLX_(gene).
    GenomeRNAii 3142.
    NextBioi 12460.
    PROi Q14774.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14774.
    Bgeei Q14774.
    CleanExi HS_HLX.
    Genevestigatori Q14774.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    PR00031. HTHREPRESSR.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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].

    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: November 1, 1997
    Last sequence update: November 13, 2007
    Last modified: October 1, 2014
    This is version 131 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