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Q14541 (HNF4G_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 148. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hepatocyte nuclear factor 4-gamma

Short name=HNF-4-gamma
Alternative name(s):
Nuclear receptor subfamily 2 group A member 2
Gene names
Name:HNF4G
Synonyms:NR2A2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length408 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Nucleus By similarity.

Tissue specificity

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.

Sequence similarities

Belongs to the nuclear hormone receptor family. NR2 subfamily.

Contains 1 nuclear receptor DNA-binding domain.

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q14541-1)

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.
Isoform 2 (identifier: Q14541-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 408408Hepatocyte nuclear factor 4-gamma
PRO_0000053562

Regions

DNA binding9 – 8476Nuclear receptor
Zinc finger12 – 3221NR C4-type
Zinc finger48 – 7225NR C4-type

Natural variations

Alternative sequence11M → MDMANYSEVLDPTYTTLEFE TMQILYNSSDSSAPETSM in isoform 2.
VSP_037691
Natural variant1901M → I. Ref.3
Corresponds to variant rs1805098 [ dbSNP | Ensembl ].
VAR_009704

Experimental info

Sequence conflict281S → T in CAA89990. Ref.1
Sequence conflict281S → T in AAF00110. Ref.3
Sequence conflict451V → I in CAA89990. Ref.1
Sequence conflict451V → I in AAF00110. Ref.3

Secondary structure

................................. 408
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 13, 2007. Version 3.
Checksum: C75410E10251AE9F

FASTA40845,877
        10         20         30         40         50         60 
MNTTDNGVNC LCAICGDRAT GKHYGASSCD GCKGFFRRSI RKSHVYSCRF SRQCVVDKDK 

        70         80         90        100        110        120 
RNQCRYCRLR KCFRAGMKKE AVQNERDRIS TRRSTFDGSN IPSINTLAQA EVRSRQISVS 

       130        140        150        160        170        180 
SPGSSTDINV KKIASIGDVC ESMKQQLLVL VEWAKYIPAF CELPLDDQVA LLRAHAGEHL 

       190        200        210        220        230        240 
LLGATKRSMM YKDILLLGNN YVIHRNSCEV EISRVANRVL DELVRPFQEI QIDDNEYACL 

       250        260        270        280        290        300 
KAIVFFDPDA KGLSDPVKIK NMRFQVQIGL EDYINDRQYD SRGRFGELLL LLPTLQSITW 

       310        320        330        340        350        360 
QMIEQIQFVK LFGMVKIDNL LQEMLLGGAS NDGSHLHHPM HPHLSQDPLT GQTILLGPMS 

       370        380        390        400 
TLVHADQIST PETPLPSPPQ GSGQEQYKIA ANQASVISHQ HLSKQKQL 

« Hide

Isoform 2 [UniParc].

Checksum: CA8F19E4AF99E81B
Show »

FASTA44550,041

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Hepatocyte nuclear factor 4 is a transcription factor that constitutively binds fatty acids."
Wisely G.B., Miller A.B., Davis R.G., Thornquest A.D. Jr., Johnson R., Spitzer T., Sefler A., Shearer B., Moore J.T., Miller A.B., Willson T.M., Williams S.P.
Structure 10:1225-1234(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 103-328.
+Additional computationally mapped references.

Web resources

Wikipedia

Hepatocyte nuclear factors entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Z49826 mRNA. Translation: CAA89990.2.
BX571750 mRNA. Translation: CAE11875.1. Different initiation.
AF133504 expand/collapse EMBL AC list , 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.
CCDSCCDS6220.2. [Q14541-2]
PIRJC6095.
RefSeqNP_004124.4. NM_004133.4. [Q14541-2]
UniGeneHs.241529.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1LV2X-ray2.70A103-328[»]
ProteinModelPortalQ14541.
SMRQ14541. Positions 11-328.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109416. 12 interactions.
STRING9606.ENSP00000379701.

Chemistry

ChEMBLCHEMBL1961786.

PTM databases

PhosphoSiteQ14541.

Polymorphism databases

DMDM160110004.

Proteomic databases

MaxQBQ14541.
PaxDbQ14541.
PRIDEQ14541.

Protocols and materials databases

DNASU3174.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000354370; ENSP00000346339; ENSG00000164749. [Q14541-1]
ENST00000396423; ENSP00000379701; ENSG00000164749. [Q14541-2]
GeneID3174.
KEGGhsa:3174.
UCSCuc003yaq.3. human. [Q14541-1]

Organism-specific databases

CTD3174.
GeneCardsGC08P076370.
H-InvDBHIX0007597.
HGNCHGNC:5026. HNF4G.
HPAHPA005438.
MIM605966. gene.
neXtProtNX_Q14541.
PharmGKBPA29351.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG241134.
HOGENOMHOG000260822.
HOVERGENHBG005606.
InParanoidQ14541.
KOK08037.
OMAANYSEVL.
OrthoDBEOG7K3TKX.
PhylomeDBQ14541.
TreeFamTF352097.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
REACT_71. Gene Expression.
SignaLinkQ14541.

Gene expression databases

ArrayExpressQ14541.
BgeeQ14541.
CleanExHS_HNF4G.
GenevestigatorQ14541.

Family and domain databases

Gene3D1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProIPR003068. 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]
PfamPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PRINTSPR01282. COUPTNFACTOR.
PR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMSSF48508. SSF48508. 1 hit.
PROSITEPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHNF4G. human.
EvolutionaryTraceQ14541.
GeneWikiHepatocyte_nuclear_factor_4_gamma.
GenomeRNAi3174.
NextBio12594.
PROQ14541.
SOURCESearch...

Entry information

Entry nameHNF4G_HUMAN
AccessionPrimary (citable) accession number: Q14541
Secondary accession number(s): Q7Z2V9, Q9UH81, Q9UIS6
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 13, 2007
Last modified: July 9, 2014
This is version 148 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM