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Q16534

- HLF_HUMAN

UniProt

Q16534 - HLF_HUMAN

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Protein
Hepatic leukemia factor
Gene
HLF
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

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
Complete GO annotation...

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 Inferred

GO - Cellular componenti

  1. nucleus Source: ProtInc
Complete GO annotation...

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 factor
PRO_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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini225 – 28864bZIP
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni227 – 24721Basic motif By similarity
Add
BLAST
Regioni248 – 2558Leucine-zipper By similarity

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.

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.
VSP_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.
ENST00000430986; ENSP00000402496; ENSG00000108924.
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 .
ENST00000430986 ; ENSP00000402496 ; ENSG00000108924 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 133 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

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