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Q14541

- HNF4G_HUMAN

UniProt

Q14541 - HNF4G_HUMAN

Protein

Hepatocyte nuclear factor 4-gamma

Gene

HNF4G

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 3 (13 Nov 2007)
      Previous versions | rss
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    Functioni

    Transcription factor. Has a lower transcription activation potential than HNF4-alpha.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi9 – 8476Nuclear receptorPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri12 – 3221NR C4-typePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri48 – 7225NR C4-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity Source: InterPro
    2. sequence-specific DNA binding Source: InterPro
    3. sequence-specific DNA binding transcription factor activity Source: ProtInc
    4. steroid hormone receptor activity Source: InterPro
    5. zinc ion binding Source: InterPro

    GO - Biological processi

    1. endocrine pancreas development Source: Reactome
    2. gene expression Source: Reactome
    3. positive regulation of transcription, DNA-templated Source: Ensembl
    4. regulation of transcription from RNA polymerase II promoter Source: ProtInc
    5. transcription initiation from RNA polymerase II promoter Source: Reactome

    Keywords - Molecular functioni

    Receptor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_13819. Regulation of gene expression in beta cells.
    REACT_15525. Nuclear Receptor transcription pathway.
    SignaLinkiQ14541.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hepatocyte nuclear factor 4-gamma
    Short name:
    HNF-4-gamma
    Alternative name(s):
    Nuclear receptor subfamily 2 group A member 2
    Gene namesi
    Name:HNF4G
    Synonyms:NR2A2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:5026. HNF4G.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleoplasm Source: Reactome

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29351.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 408408Hepatocyte nuclear factor 4-gammaPRO_0000053562Add
    BLAST

    Proteomic databases

    MaxQBiQ14541.
    PaxDbiQ14541.
    PRIDEiQ14541.

    PTM databases

    PhosphoSiteiQ14541.

    Expressioni

    Tissue specificityi

    Expressed in pancreas, kidney, small intestine and testis. Weakly expressed in colon. Not expressed in liver, skeletal muscle, lung, placenta, brain, heart, peripheral blood, ovary, prostate, thymus and spleen.

    Gene expression databases

    ArrayExpressiQ14541.
    BgeeiQ14541.
    CleanExiHS_HNF4G.
    GenevestigatoriQ14541.

    Organism-specific databases

    HPAiHPA005438.

    Interactioni

    Protein-protein interaction databases

    BioGridi109416. 12 interactions.
    STRINGi9606.ENSP00000379701.

    Structurei

    Secondary structure

    1
    408
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi103 – 11614
    Helixi136 – 15520
    Helixi158 – 1614
    Helixi167 – 1748
    Helixi176 – 18813
    Beta strandi191 – 1966
    Beta strandi202 – 2043
    Turni210 – 2123
    Helixi213 – 22210
    Helixi224 – 2307
    Helixi234 – 24512
    Helixi256 – 27520
    Beta strandi277 – 2804
    Turni281 – 2833
    Helixi284 – 2896
    Helixi292 – 31120
    Helixi319 – 3246
    Turni325 – 3273

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1LV2X-ray2.70A103-328[»]
    ProteinModelPortaliQ14541.
    SMRiQ14541. Positions 11-328.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ14541.

    Family & Domainsi

    Sequence similaritiesi

    Contains 1 nuclear receptor DNA-binding domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri12 – 3221NR C4-typePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri48 – 7225NR C4-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiNOG241134.
    HOGENOMiHOG000260822.
    HOVERGENiHBG005606.
    InParanoidiQ14541.
    KOiK08037.
    OMAiANYSEVL.
    OrthoDBiEOG7K3TKX.
    PhylomeDBiQ14541.
    TreeFamiTF352097.

    Family and domain databases

    Gene3Di1.10.565.10. 1 hit.
    3.30.50.10. 1 hit.
    InterProiIPR003068. COUP_TF.
    IPR008946. Nucl_hormone_rcpt_ligand-bd.
    IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
    IPR001723. Str_hrmn_rcpt.
    IPR001628. Znf_hrmn_rcpt.
    IPR013088. Znf_NHR/GATA.
    [Graphical view]
    PfamiPF00104. Hormone_recep. 1 hit.
    PF00105. zf-C4. 1 hit.
    [Graphical view]
    PRINTSiPR01282. COUPTNFACTOR.
    PR00398. STRDHORMONER.
    PR00047. STROIDFINGER.
    SMARTiSM00430. HOLI. 1 hit.
    SM00399. ZnF_C4. 1 hit.
    [Graphical view]
    SUPFAMiSSF48508. SSF48508. 1 hit.
    PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
    PS51030. NUCLEAR_REC_DBD_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q14541-1) [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

    MNTTDNGVNC LCAICGDRAT GKHYGASSCD GCKGFFRRSI RKSHVYSCRF    50
    SRQCVVDKDK RNQCRYCRLR KCFRAGMKKE AVQNERDRIS TRRSTFDGSN 100
    IPSINTLAQA EVRSRQISVS SPGSSTDINV KKIASIGDVC ESMKQQLLVL 150
    VEWAKYIPAF CELPLDDQVA LLRAHAGEHL LLGATKRSMM YKDILLLGNN 200
    YVIHRNSCEV EISRVANRVL DELVRPFQEI QIDDNEYACL KAIVFFDPDA 250
    KGLSDPVKIK NMRFQVQIGL EDYINDRQYD SRGRFGELLL LLPTLQSITW 300
    QMIEQIQFVK LFGMVKIDNL LQEMLLGGAS NDGSHLHHPM HPHLSQDPLT 350
    GQTILLGPMS TLVHADQIST PETPLPSPPQ GSGQEQYKIA ANQASVISHQ 400
    HLSKQKQL 408
    Length:408
    Mass (Da):45,877
    Last modified:November 13, 2007 - v3
    Checksum:iC75410E10251AE9F
    GO
    Isoform 2 (identifier: Q14541-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MDMANYSEVLDPTYTTLEFETMQILYNSSDSSAPETSM

    Show »
    Length:445
    Mass (Da):50,041
    Checksum:iCA8F19E4AF99E81B
    GO

    Sequence cautioni

    The sequence CAE11875.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti28 – 281S → T in CAA89990. (PubMed:8622695)Curated
    Sequence conflicti28 – 281S → T in AAF00110. (PubMed:10512380)Curated
    Sequence conflicti45 – 451V → I in CAA89990. (PubMed:8622695)Curated
    Sequence conflicti45 – 451V → I in AAF00110. (PubMed:10512380)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti190 – 1901M → I.1 Publication
    Corresponds to variant rs1805098 [ dbSNP | Ensembl ].
    VAR_009704

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MDMANYSEVLDPTYTTLEFE TMQILYNSSDSSAPETSM in isoform 2. 1 PublicationVSP_037691

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z49826 mRNA. Translation: CAA89990.2.
    BX571750 mRNA. Translation: CAE11875.1. Different initiation.
    AF133504
    , AF133496, AF133497, AF133498, AF133499, AF133500, AF133501, AF133502, AF133503 Genomic DNA. Translation: AAF00110.1.
    AF207953 Genomic DNA. No translation available.
    BC105009 mRNA. Translation: AAI05010.1.
    BC105011 mRNA. Translation: AAI05012.1.
    CCDSiCCDS6220.2. [Q14541-2]
    PIRiJC6095.
    RefSeqiNP_004124.4. NM_004133.4. [Q14541-2]
    UniGeneiHs.241529.

    Genome annotation databases

    EnsembliENST00000354370; ENSP00000346339; ENSG00000164749. [Q14541-1]
    ENST00000396423; ENSP00000379701; ENSG00000164749. [Q14541-2]
    GeneIDi3174.
    KEGGihsa:3174.
    UCSCiuc003yaq.3. human. [Q14541-1]

    Polymorphism databases

    DMDMi160110004.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Hepatocyte nuclear factors entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z49826 mRNA. Translation: CAA89990.2 .
    BX571750 mRNA. Translation: CAE11875.1 . Different initiation.
    AF133504
    , AF133496 , AF133497 , AF133498 , AF133499 , AF133500 , AF133501 , AF133502 , AF133503 Genomic DNA. Translation: AAF00110.1 .
    AF207953 Genomic DNA. No translation available.
    BC105009 mRNA. Translation: AAI05010.1 .
    BC105011 mRNA. Translation: AAI05012.1 .
    CCDSi CCDS6220.2. [Q14541-2 ]
    PIRi JC6095.
    RefSeqi NP_004124.4. NM_004133.4. [Q14541-2 ]
    UniGenei Hs.241529.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1LV2 X-ray 2.70 A 103-328 [» ]
    ProteinModelPortali Q14541.
    SMRi Q14541. Positions 11-328.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109416. 12 interactions.
    STRINGi 9606.ENSP00000379701.

    Chemistry

    ChEMBLi CHEMBL1961786.

    PTM databases

    PhosphoSitei Q14541.

    Polymorphism databases

    DMDMi 160110004.

    Proteomic databases

    MaxQBi Q14541.
    PaxDbi Q14541.
    PRIDEi Q14541.

    Protocols and materials databases

    DNASUi 3174.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000354370 ; ENSP00000346339 ; ENSG00000164749 . [Q14541-1 ]
    ENST00000396423 ; ENSP00000379701 ; ENSG00000164749 . [Q14541-2 ]
    GeneIDi 3174.
    KEGGi hsa:3174.
    UCSCi uc003yaq.3. human. [Q14541-1 ]

    Organism-specific databases

    CTDi 3174.
    GeneCardsi GC08P076370.
    H-InvDB HIX0007597.
    HGNCi HGNC:5026. HNF4G.
    HPAi HPA005438.
    MIMi 605966. gene.
    neXtProti NX_Q14541.
    PharmGKBi PA29351.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG241134.
    HOGENOMi HOG000260822.
    HOVERGENi HBG005606.
    InParanoidi Q14541.
    KOi K08037.
    OMAi ANYSEVL.
    OrthoDBi EOG7K3TKX.
    PhylomeDBi Q14541.
    TreeFami TF352097.

    Enzyme and pathway databases

    Reactomei REACT_13819. Regulation of gene expression in beta cells.
    REACT_15525. Nuclear Receptor transcription pathway.
    SignaLinki Q14541.

    Miscellaneous databases

    ChiTaRSi HNF4G. human.
    EvolutionaryTracei Q14541.
    GeneWikii Hepatocyte_nuclear_factor_4_gamma.
    GenomeRNAii 3174.
    NextBioi 12594.
    PROi Q14541.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14541.
    Bgeei Q14541.
    CleanExi HS_HNF4G.
    Genevestigatori Q14541.

    Family and domain databases

    Gene3Di 1.10.565.10. 1 hit.
    3.30.50.10. 1 hit.
    InterProi IPR003068. COUP_TF.
    IPR008946. Nucl_hormone_rcpt_ligand-bd.
    IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
    IPR001723. Str_hrmn_rcpt.
    IPR001628. Znf_hrmn_rcpt.
    IPR013088. Znf_NHR/GATA.
    [Graphical view ]
    Pfami PF00104. Hormone_recep. 1 hit.
    PF00105. zf-C4. 1 hit.
    [Graphical view ]
    PRINTSi PR01282. COUPTNFACTOR.
    PR00398. STRDHORMONER.
    PR00047. STROIDFINGER.
    SMARTi SM00430. HOLI. 1 hit.
    SM00399. ZnF_C4. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48508. SSF48508. 1 hit.
    PROSITEi PS00031. NUCLEAR_REC_DBD_1. 1 hit.
    PS51030. NUCLEAR_REC_DBD_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and differentially expressed genes."
      Drewes T., Senkel S., Holewa B., Ryffel G.U.
      Mol. Cell. Biol. 16:925-931(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Kidney.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. "Hepatocyte nuclear factor-4gamma: cDNA sequence, gene organization, and mutation screening in early-onset autosomal-dominant type 2 diabetes."
      Plengvidhya N., Antonellis A., Wogan L.T., Poleev A., Borgschulze M., Warram J.H., Ryffel G.U., Krolewski A.S., Doria A.
      Diabetes 48:2099-2102(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT ILE-190.
    4. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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).
    6. Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 103-328.

    Entry informationi

    Entry nameiHNF4G_HUMAN
    AccessioniPrimary (citable) accession number: Q14541
    Secondary accession number(s): Q7Z2V9, Q9UH81, Q9UIS6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: November 13, 2007
    Last modified: October 1, 2014
    This is version 150 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3