Human Gene ZFPM1 (uc002fkv.3) Description and Page Index
  Description: Homo sapiens zinc finger protein, FOG family member 1 (ZFPM1), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr16:88,520,014-88,601,574 Size: 81,561 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr16:88,520,047-88,601,387 Size: 81,341 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:88,520,014-88,601,574)mRNA (may differ from genome)Protein (1006 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: FOG1_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein ZFPM1; AltName: Full=Friend of GATA protein 1; Short=FOG-1; Short=Friend of GATA 1; AltName: Full=Zinc finger protein 89A; AltName: Full=Zinc finger protein multitype 1;
FUNCTION: Transcription regulator that plays an essential role in erythroid and megakaryocytic cell differentiation. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA1, GATA2 and GATA3. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. The heterodimer formed with GATA proteins is essential to activate expression of genes such as NFE2, ITGA2B, alpha- and beta-globin, while it represses expression of KLF1. May be involved in regulation of some genes in gonads. May also be involved in cardiac development, in a non-redundant way with ZFPM2/FOG2 (By similarity).
SUBUNIT: Interacts with corepressor CTBP2; this interaction is however not essential for corepressor activity (By similarity). Interacts with the N-terminal zinc-finger of GATA1, GATA2 and probably GATA3.
INTERACTION: P49841:GSK3B; NbExp=2; IntAct=EBI-3942619, EBI-373586; Q09028:RBBP4; NbExp=4; IntAct=EBI-3942619, EBI-620823;
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Mainly expressed in hematopoietic tissues. Also expressed in adult cerebellum, stomach, lymph node, liver and pancreas. Expressed in fetal heart, liver and spleen.
DOMAIN: The CCHC-type zinc fingers 1, 5, 6 and 9 directly bind to GATA-type zinc fingers. The Tyr residue adjacent to the last Cys of the CCHC-type zinc finger is essential for the interaction with GATA-type zinc fingers (By similarity).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the FOG (Friend of GATA) family.
SIMILARITY: Contains 4 C2H2-type zinc fingers.
SIMILARITY: Contains 5 C2HC-type zinc fingers.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ZFPM1
CDC HuGE Published Literature: ZFPM1

-  MalaCards Disease Associations
  MalaCards Gene Search: ZFPM1
Diseases sorted by gene-association score: dyserythropoietic anemia and thrombocytopenia (6), thrombocytopenia, x-linked (5), exudative vitreoretinopathy (2), kbg syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.55 RPKM in Testis
Total median expression: 83.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.9033-0.482 Picture PostScript Text
3' UTR -80.40187-0.430 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF12874 - Zinc-finger of C2H2 type

SCOP Domains:
57667 - C2H2 and C2HC zinc fingers

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2XU7
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8IX07
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001085 RNA polymerase II transcription factor binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0002295 T-helper cell lineage commitment
GO:0003151 outflow tract morphogenesis
GO:0003181 atrioventricular valve morphogenesis
GO:0003192 mitral valve formation
GO:0003195 tricuspid valve formation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007507 heart development
GO:0007596 blood coagulation
GO:0010724 regulation of definitive erythrocyte differentiation
GO:0030218 erythrocyte differentiation
GO:0030219 megakaryocyte differentiation
GO:0030220 platelet formation
GO:0030851 granulocyte differentiation
GO:0032091 negative regulation of protein binding
GO:0032642 regulation of chemokine production
GO:0035162 embryonic hemopoiesis
GO:0035855 megakaryocyte development
GO:0045078 positive regulation of interferon-gamma biosynthetic process
GO:0045403 negative regulation of interleukin-4 biosynthetic process
GO:0045599 negative regulation of fat cell differentiation
GO:0045652 regulation of megakaryocyte differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048872 homeostasis of number of cells
GO:0055008 cardiac muscle tissue morphogenesis
GO:0060318 definitive erythrocyte differentiation
GO:0060319 primitive erythrocyte differentiation
GO:0060377 negative regulation of mast cell differentiation
GO:0060412 ventricular septum morphogenesis
GO:0060413 atrial septum morphogenesis
GO:0071733 transcriptional activation by promoter-enhancer looping

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0017053 transcriptional repressor complex


-  Descriptions from all associated GenBank mRNAs
  LF212250 - JP 2014500723-A/19753: Polycomb-Associated Non-Coding RNAs.
LF208344 - JP 2014500723-A/15847: Polycomb-Associated Non-Coding RNAs.
AF488691 - Homo sapiens friend of GATA-1 (FOG1) mRNA, complete cds.
JD395971 - Sequence 376995 from Patent EP1572962.
LF375035 - JP 2014500723-A/182538: Polycomb-Associated Non-Coding RNAs.
LF375045 - JP 2014500723-A/182548: Polycomb-Associated Non-Coding RNAs.
LF375046 - JP 2014500723-A/182549: Polycomb-Associated Non-Coding RNAs.
LF375050 - JP 2014500723-A/182553: Polycomb-Associated Non-Coding RNAs.
LF375055 - JP 2014500723-A/182558: Polycomb-Associated Non-Coding RNAs.
LF375056 - JP 2014500723-A/182559: Polycomb-Associated Non-Coding RNAs.
LF375057 - JP 2014500723-A/182560: Polycomb-Associated Non-Coding RNAs.
MA447827 - JP 2018138019-A/19753: Polycomb-Associated Non-Coding RNAs.
MA443921 - JP 2018138019-A/15847: Polycomb-Associated Non-Coding RNAs.
MA610612 - JP 2018138019-A/182538: Polycomb-Associated Non-Coding RNAs.
MA610622 - JP 2018138019-A/182548: Polycomb-Associated Non-Coding RNAs.
MA610623 - JP 2018138019-A/182549: Polycomb-Associated Non-Coding RNAs.
MA610627 - JP 2018138019-A/182553: Polycomb-Associated Non-Coding RNAs.
MA610632 - JP 2018138019-A/182558: Polycomb-Associated Non-Coding RNAs.
MA610633 - JP 2018138019-A/182559: Polycomb-Associated Non-Coding RNAs.
MA610634 - JP 2018138019-A/182560: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8IX07 (Reactome details) participates in the following event(s):

R-HSA-8935740 RUNX1 and GATA1 bind the promoter of the ITGA2B gene
R-HSA-8936616 RUNX1 and GATA1 bind the promoter of the GP1BA gene
R-HSA-8936979 RUNX1 and GATA1 bind the promoter of the THBS1 gene
R-HSA-8937037 RUNX1 and GATA1 bind the promoter of the MIR27A gene
R-HSA-996755 ZFPM proteins bind GATA proteins
R-HSA-8936481 Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoter
R-HSA-8936621 Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoter
R-HSA-8937016 Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoter
R-HSA-8937050 Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoter
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-109582 Hemostasis
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: FOG1, FOG1_HUMAN, NM_153813, NP_722520, Q8IX07, ZFN89A
UCSC ID: uc002fkv.3
RefSeq Accession: NM_153813
Protein: Q8IX07 (aka FOG1_HUMAN)
CCDS: CCDS32502.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_153813.2
exon count: 10CDS single in 3' UTR: no RNA size: 3241
ORF size: 3021CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3906.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.