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Q16534

- HLF_HUMAN

UniProt

Q16534 - HLF_HUMAN

Protein

Hepatic leukemia factor

Gene

HLF

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. DNA binding Source: ProtInc
    2. double-stranded DNA binding Source: ProtInc
    3. sequence-specific DNA binding Source: InterPro
    4. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. multicellular organismal development Source: ProtInc
    2. rhythmic process Source: UniProtKB-KW
    3. skeletal muscle cell differentiation Source: Ensembl
    4. transcription from RNA polymerase II promoter Source: ProtInc

    Keywords - Biological processi

    Biological rhythms, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiQ16534.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hepatic leukemia factor
    Gene namesi
    Name:HLF
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:4977. HLF.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: ProtInc

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving HLF is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(17;19)(q22;p13.3) with TCF3.

    Keywords - Diseasei

    Proto-oncogene

    Organism-specific databases

    Orphaneti99860. Precursor B-cell acute lymphoblastic leukemia.
    PharmGKBiPA29311.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 295295Hepatic leukemia factorPRO_0000076510Add
    BLAST

    Proteomic databases

    PaxDbiQ16534.
    PRIDEiQ16534.

    PTM databases

    PhosphoSiteiQ16534.

    Expressioni

    Tissue specificityi

    Highly expressed in liver; lower levels in lung and kidney.

    Inductioni

    Accumulates according to a robust circadian rhythm.By similarity

    Gene expression databases

    ArrayExpressiQ16534.
    BgeeiQ16534.
    CleanExiHS_HLF.
    GenevestigatoriQ16534.

    Interactioni

    Subunit structurei

    Binds DNA specifically as homodimer or heterodimer with other PAR factors.

    Protein-protein interaction databases

    BioGridi109376. 4 interactions.
    IntActiQ16534. 25 interactions.
    STRINGi9606.ENSP00000226067.

    Structurei

    3D structure databases

    ProteinModelPortaliQ16534.
    SMRiQ16534. Positions 231-276.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini225 – 28864bZIPPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni227 – 24721Basic motifPROSITE-ProRule annotationAdd
    BLAST
    Regioni248 – 2558Leucine-zipperPROSITE-ProRule annotation

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi158 – 20952Pro-rich (proline/acidic region (PAR))Add
    BLAST

    Sequence similaritiesi

    Belongs to the bZIP family. PAR subfamily.Curated
    Contains 1 bZIP (basic-leucine zipper) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG329624.
    HOGENOMiHOG000234383.
    HOVERGENiHBG004983.
    InParanoidiQ16534.
    KOiK09057.
    OMAiLHPEDAF.
    OrthoDBiEOG712TZJ.
    PhylomeDBiQ16534.
    TreeFamiTF315869.

    Family and domain databases

    InterProiIPR004827. bZIP.
    [Graphical view]
    PfamiPF07716. bZIP_2. 1 hit.
    [Graphical view]
    SMARTiSM00338. BRLZ. 1 hit.
    [Graphical view]
    PROSITEiPS50217. BZIP. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q16534-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEKMSRPLPL NPTFIPPPYG VLRSLLENPL KLPLHHEDAF SKDKDKEKKL    50
    DDESNSPTVP QSAFLGPTLW DKTLPYDGDT FQLEYMDLEE FLSENGIPPS 100
    PSQHDHSPHP PGLQPASSAA PSVMDLSSRA SAPLHPGIPS PNCMQSPIRP 150
    GQLLPANRNT PSPIDPDTIQ VPVGYEPDPA DLALSSIPGQ EMFDPRKRKF 200
    SEEELKPQPM IKKARKVFIP DDLKDDKYWA RRRKNNMAAK RSRDARRLKE 250
    NQIAIRASFL EKENSALRQE VADLRKELGK CKNILAKYEA RHGPL 295
    Length:295
    Mass (Da):33,199
    Last modified:November 1, 1996 - v1
    Checksum:i80572A727BBB5635
    GO
    Isoform 2 (identifier: Q16534-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-85: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:210
    Mass (Da):23,477
    Checksum:iCF954DE7F11388D5
    GO

    Sequence cautioni

    The sequence AAA58445.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti253 – 2531I → F in fusion protein; decreases DNA-binding activity.
    VAR_008515

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 8585Missing in isoform 2. 1 PublicationVSP_053852Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M95585 mRNA. Translation: AAA52675.1.
    M95586 mRNA. Translation: AAA58445.1. Different initiation.
    X68985 mRNA. Translation: CAA48777.1.
    AK290043 mRNA. Translation: BAF82732.1.
    AK315079 mRNA. Translation: BAG37547.1.
    CR541672 mRNA. Translation: CAG46473.1.
    AC007638 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94544.1.
    BC036093 mRNA. Translation: AAH36093.1.
    CCDSiCCDS11585.1. [Q16534-1]
    PIRiA44064.
    RefSeqiNP_002117.1. NM_002126.4. [Q16534-1]
    UniGeneiHs.196952.

    Genome annotation databases

    EnsembliENST00000226067; ENSP00000226067; ENSG00000108924. [Q16534-1]
    ENST00000430986; ENSP00000402496; ENSG00000108924. [Q16534-2]
    ENST00000573945; ENSP00000460296; ENSG00000108924. [Q16534-2]
    ENST00000575345; ENSP00000460572; ENSG00000108924. [Q16534-2]
    GeneIDi3131.
    KEGGihsa:3131.
    UCSCiuc002iug.1. human. [Q16534-1]

    Polymorphism databases

    DMDMi6919907.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M95585 mRNA. Translation: AAA52675.1 .
    M95586 mRNA. Translation: AAA58445.1 . Different initiation.
    X68985 mRNA. Translation: CAA48777.1 .
    AK290043 mRNA. Translation: BAF82732.1 .
    AK315079 mRNA. Translation: BAG37547.1 .
    CR541672 mRNA. Translation: CAG46473.1 .
    AC007638 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94544.1 .
    BC036093 mRNA. Translation: AAH36093.1 .
    CCDSi CCDS11585.1. [Q16534-1 ]
    PIRi A44064.
    RefSeqi NP_002117.1. NM_002126.4. [Q16534-1 ]
    UniGenei Hs.196952.

    3D structure databases

    ProteinModelPortali Q16534.
    SMRi Q16534. Positions 231-276.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109376. 4 interactions.
    IntActi Q16534. 25 interactions.
    STRINGi 9606.ENSP00000226067.

    PTM databases

    PhosphoSitei Q16534.

    Polymorphism databases

    DMDMi 6919907.

    Proteomic databases

    PaxDbi Q16534.
    PRIDEi Q16534.

    Protocols and materials databases

    DNASUi 3131.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000226067 ; ENSP00000226067 ; ENSG00000108924 . [Q16534-1 ]
    ENST00000430986 ; ENSP00000402496 ; ENSG00000108924 . [Q16534-2 ]
    ENST00000573945 ; ENSP00000460296 ; ENSG00000108924 . [Q16534-2 ]
    ENST00000575345 ; ENSP00000460572 ; ENSG00000108924 . [Q16534-2 ]
    GeneIDi 3131.
    KEGGi hsa:3131.
    UCSCi uc002iug.1. human. [Q16534-1 ]

    Organism-specific databases

    CTDi 3131.
    GeneCardsi GC17P053342.
    HGNCi HGNC:4977. HLF.
    MIMi 142385. gene.
    neXtProti NX_Q16534.
    Orphaneti 99860. Precursor B-cell acute lymphoblastic leukemia.
    PharmGKBi PA29311.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG329624.
    HOGENOMi HOG000234383.
    HOVERGENi HBG004983.
    InParanoidi Q16534.
    KOi K09057.
    OMAi LHPEDAF.
    OrthoDBi EOG712TZJ.
    PhylomeDBi Q16534.
    TreeFami TF315869.

    Enzyme and pathway databases

    SignaLinki Q16534.

    Miscellaneous databases

    GeneWikii HLF_(gene).
    GenomeRNAii 3131.
    NextBioi 12421.
    PROi Q16534.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q16534.
    Bgeei Q16534.
    CleanExi HS_HLF.
    Genevestigatori Q16534.

    Family and domain databases

    InterProi IPR004827. bZIP.
    [Graphical view ]
    Pfami PF07716. bZIP_2. 1 hit.
    [Graphical view ]
    SMARTi SM00338. BRLZ. 1 hit.
    [Graphical view ]
    PROSITEi PS50217. BZIP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Hlf, a novel hepatic bZIP protein, shows altered DNA-binding properties following fusion to E2A in t(17;19) acute lymphoblastic leukemia."
      Hunger S.P., Ohyashiki K., Toyama K., Cleary M.L.
      Genes Dev. 6:1608-1620(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION WITH TCF3.
      Tissue: Hepatoma.
    2. "Fusion of the leucine zipper gene HLF to the E2A gene in human acute B-lineage leukemia."
      Inaba T., Roberts W.M., Shapiro L.H., Jolly K.W., Raimondi S.C., Smith S.D., Look A.T.
      Science 257:531-534(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION WITH TCF3.
      Tissue: Hepatoma.
    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] (ISOFORMS 1 AND 2).
      Tissue: Hippocampus and Testis.
    4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(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] (ISOFORM 1).
      Tissue: Brain.

    Entry informationi

    Entry nameiHLF_HUMAN
    AccessioniPrimary (citable) accession number: Q16534
    Secondary accession number(s): A8K1X8, Q6FHS9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 134 of the entry and version 1 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 17
      Human chromosome 17: 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