Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Zinc finger protein Gfi-1

Gene

GFI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription repressor essential for hematopoiesis. Functions in a cell-context and development-specific manner. Binds to 5'-TAAATCAC[AT]GCA-3' in the promoter region of a large number of genes. Component of several complexes, including the EHMT2-GFI1-HDAC1, AJUBA-GFI1-HDAC1 and RCOR-GFI-KDM1A-HDAC complexes, that suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development. Mediates, together with U2AF1L4, the alternative splicing of CD45 and controls T-cell receptor signaling. Regulates the endotoxin-mediated Toll-like receptor (TLR) inflammatory response by antagonizing RELA. Cooperates with CBFA2T2 to regulate ITGB1-dependent neurite growth. Controls cell-cycle progression by repressing CDKNIA/p21 transcription in response to TGFB1 via recruitment of GFI1 by ZBTB17 to the CDKNIA/p21 and CDKNIB promoters. Required for the maintenance of inner ear hair cells.11 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri255 – 278C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri284 – 306C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri312 – 334C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri340 – 362C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri368 – 390C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri396 – 419C2H2-type 6PROSITE-ProRule annotationAdd BLAST24

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q99684

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q99684

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Zinc finger protein Gfi-1
Alternative name(s):
Growth factor independent protein 1
Zinc finger protein 163
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GFI1
Synonyms:ZNF163
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000162676.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4237 GFI1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600871 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99684

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neutropenia, severe congenital 2, autosomal dominant (SCN2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.
See also OMIM:613107
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_016212382N → S in SCN2; zero neutrophil count. marked monocytosis and reduced T- and B-lymphocyte number leading to recurrent infectious complications. Abolishes recognition of DNA binding site of zinc finger. Diminished repression activity and elevated ELA2 expression. No effect on repression of CDKN1A/p21 transcription. 2 PublicationsCorresponds to variant dbSNP:rs28936381EnsemblClinVar.1
Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRelatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a subset of patients.
See also OMIM:607847
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016213403K → R in NI-CINA; Neutropenic and elevated monocytosis but no history of infectious complications. No effect on DNA binding but diminished GFI1 repression activity. 1 PublicationCorresponds to variant dbSNP:rs28936382EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi2P → A: Abrogates transcriptional repression. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2672

MalaCards human disease database

More...
MalaCardsi
GFI1
MIMi607847 phenotype
613107 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000162676

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
486 Autosomal dominant severe congenital neutropenia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24344

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GFI1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
33860154

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000471931 – 422Zinc finger protein Gfi-1Add BLAST422

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei20PhosphoserineBy similarity1
Modified residuei56PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated. Ubiquitination and degradation by the proteasome is inhibited by the ubiquitin ligase, ARIH2.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q99684

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q99684

PeptideAtlas

More...
PeptideAtlasi
Q99684

PRoteomics IDEntifications database

More...
PRIDEi
Q99684

ProteomicsDB human proteome resource

More...
ProteomicsDBi
78396

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q99684

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q99684

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Down-regulated by TGFB1.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000162676 Expressed in 106 organ(s), highest expression level in bone marrow cell

CleanEx database of gene expression profiles

More...
CleanExi
HS_GFI1

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q99684 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB011197

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with U2AF1L4. Component of RCOR-GFI-KDM1A-HDAC complexes. Interacts directly with RCOR1, KDM1A and HDAC2 (By similarity). Also interacts with HDAC1. Interacts (via the zinc-finger domain) with ARIH2; the interaction prevents GFI1 ubiquitination and proteasomal degradation. Interacts with PIAS3; the interaction relieves the inhibitory effect of PIAS3 on STAT3-mediated transcriptional activity. Forms a complex with EHMT2 and HDAC1 to promote 'Lys-9' dimethylation of H3 (H3K9Me2) and repress expression of target genes. Interacts directly with EHMT2. Component of the GFI1-AJUBA-HDAC1 repressor complex. Interacts directly with AJUBA (via ITS LIM domains); the interaction results in the HDAC-dependent corepression of a subset of GFI1 target genes and, occurs independently of the SNAG domain. Interacts with SPI1; the interaction inhibits SPI1 transcriptional activity and represses SPI1-regulated macrophage-specific genes required for proper granulocyte development. Interacts with RUNX1T1; the interaction represses HDAC-mediated transcriptional activity. Interacts with RELA; the interaction occurs on liposaccharide (LPS) stimulation and controls RELA DNA binding activity and regulates endotoxin-mediated TOLL-like receptor inflammatory response. Interacts (via the C-terminal zinc fingers) with ZBTB17; the interaction results in the recruitment of GFI1 to the CDKN1A/p21 and CDKN1B promoters and repression of transcription.By similarity9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108940, 14 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q99684

Database of interacting proteins

More...
DIPi
DIP-38452N

Protein interaction database and analysis system

More...
IntActi
Q99684, 17 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000294702

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q99684

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q99684

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 20SNAG domainBy similarityAdd BLAST20
Regioni140 – 257Required for interaction with RELA1 PublicationAdd BLAST118

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi158 – 209Ala/Gly-richAdd BLAST52

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Zinc fingers 3, 4 and 5 are required for DNA-binding and for interaction with SPI1.1 Publication
The SNAG domain of GFIs is required for nuclear location and for interaction with some corepressors.By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri255 – 278C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri284 – 306C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri312 – 334C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri340 – 362C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri368 – 390C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri396 – 419C2H2-type 6PROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156166

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG006967

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q99684

KEGG Orthology (KO)

More...
KOi
K09223

Identification of Orthologs from Complete Genome Data

More...
OMAi
PFSVPFK

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0NDD

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q99684

TreeFam database of animal gene trees

More...
TreeFami
TF350784

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029840 GFI1/1B
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

The PANTHER Classification System

More...
PANTHERi
PTHR44780 PTHR44780, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00096 zf-C2H2, 6 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 6 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57667 SSF57667, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 6 hits
PS50157 ZINC_FINGER_C2H2_2, 6 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q99684-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPRSFLVKSK KAHSYHQPRS PGPDYSLRLE NVPAPSRADS TSNAGGAKAE
60 70 80 90 100
PRDRLSPESQ LTEAPDRASA SPDSCEGSVC ERSSEFEDFW RPPSPSASPA
110 120 130 140 150
SEKSMCPSLD EAQPFPLPFK PYSWSGLAGS DLRHLVQSYR PCGALERGAG
160 170 180 190 200
LGLFCEPAPE PGHPAALYGP KRAAGGAGAG APGSCSAGAG ATAGPGLGLY
210 220 230 240 250
GDFGSAAAGL YERPTAAAGL LYPERGHGLH ADKGAGVKVE SELLCTRLLL
260 270 280 290 300
GGGSYKCIKC SKVFSTPHGL EVHVRRSHSG TRPFACEMCG KTFGHAVSLE
310 320 330 340 350
QHKAVHSQER SFDCKICGKS FKRSSTLSTH LLIHSDTRPY PCQYCGKRFH
360 370 380 390 400
QKSDMKKHTF IHTGEKPHKC QVCGKAFSQS SNLITHSRKH TGFKPFGCDL
410 420
CGKGFQRKVD LRRHRETQHG LK
Length:422
Mass (Da):45,297
Last modified:August 15, 2003 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i740A466F72C5FC72
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti73 – 77DSCEG → RQLRS in AAB37272 (PubMed:9051000).Curated5
Sequence conflicti184 – 186SCS → NCI in AAB37272 (PubMed:9051000).Curated3
Sequence conflicti213R → K in AAB37272 (PubMed:9051000).Curated1
Sequence conflicti228G → R in AAB37272 (PubMed:9051000).Curated1
Sequence conflicti232D → N in AAB37272 (PubMed:9051000).Curated1
Sequence conflicti367P → L in AAB37272 (PubMed:9051000).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05272236S → N. Corresponds to variant dbSNP:rs34631763EnsemblClinVar.1
Natural variantiVAR_016212382N → S in SCN2; zero neutrophil count. marked monocytosis and reduced T- and B-lymphocyte number leading to recurrent infectious complications. Abolishes recognition of DNA binding site of zinc finger. Diminished repression activity and elevated ELA2 expression. No effect on repression of CDKN1A/p21 transcription. 2 PublicationsCorresponds to variant dbSNP:rs28936381EnsemblClinVar.1
Natural variantiVAR_016213403K → R in NI-CINA; Neutropenic and elevated monocytosis but no history of infectious complications. No effect on DNA binding but diminished GFI1 repression activity. 1 PublicationCorresponds to variant dbSNP:rs28936382EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U67369 mRNA Translation: AAB37272.1
BC032751 mRNA Translation: AAH32751.1
BC074866 mRNA Translation: AAH74866.1
BC074867 mRNA Translation: AAH74867.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30773.1

NCBI Reference Sequences

More...
RefSeqi
NP_001120687.1, NM_001127215.1
NP_001120688.1, NM_001127216.1
NP_005254.2, NM_005263.3
XP_005270806.1, XM_005270749.3
XP_011539547.1, XM_011541245.2
XP_011539548.1, XM_011541246.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.608370
Hs.73172

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000294702; ENSP00000294702; ENSG00000162676
ENST00000370332; ENSP00000359357; ENSG00000162676
ENST00000427103; ENSP00000399719; ENSG00000162676

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2672

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2672

UCSC genome browser

More...
UCSCi
uc001dou.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

GFI1base

GFI1 mutation db

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U67369 mRNA Translation: AAB37272.1
BC032751 mRNA Translation: AAH32751.1
BC074866 mRNA Translation: AAH74866.1
BC074867 mRNA Translation: AAH74867.1
CCDSiCCDS30773.1
RefSeqiNP_001120687.1, NM_001127215.1
NP_001120688.1, NM_001127216.1
NP_005254.2, NM_005263.3
XP_005270806.1, XM_005270749.3
XP_011539547.1, XM_011541245.2
XP_011539548.1, XM_011541246.2
UniGeneiHs.608370
Hs.73172

3D structure databases

ProteinModelPortaliQ99684
SMRiQ99684
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108940, 14 interactors
CORUMiQ99684
DIPiDIP-38452N
IntActiQ99684, 17 interactors
STRINGi9606.ENSP00000294702

PTM databases

iPTMnetiQ99684
PhosphoSitePlusiQ99684

Polymorphism and mutation databases

BioMutaiGFI1
DMDMi33860154

Proteomic databases

EPDiQ99684
PaxDbiQ99684
PeptideAtlasiQ99684
PRIDEiQ99684
ProteomicsDBi78396

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2672
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000294702; ENSP00000294702; ENSG00000162676
ENST00000370332; ENSP00000359357; ENSG00000162676
ENST00000427103; ENSP00000399719; ENSG00000162676
GeneIDi2672
KEGGihsa:2672
UCSCiuc001dou.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2672
DisGeNETi2672
EuPathDBiHostDB:ENSG00000162676.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GFI1
HGNCiHGNC:4237 GFI1
HPAiCAB011197
MalaCardsiGFI1
MIMi600871 gene
607847 phenotype
613107 phenotype
neXtProtiNX_Q99684
OpenTargetsiENSG00000162676
Orphaneti486 Autosomal dominant severe congenital neutropenia
PharmGKBiPA24344

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000156166
HOVERGENiHBG006967
InParanoidiQ99684
KOiK09223
OMAiPFSVPFK
OrthoDBiEOG091G0NDD
PhylomeDBiQ99684
TreeFamiTF350784

Enzyme and pathway databases

SignaLinkiQ99684
SIGNORiQ99684

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GFI1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2672

Protein Ontology

More...
PROi
PR:Q99684

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000162676 Expressed in 106 organ(s), highest expression level in bone marrow cell
CleanExiHS_GFI1
GenevisibleiQ99684 HS

Family and domain databases

InterProiView protein in InterPro
IPR029840 GFI1/1B
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR44780 PTHR44780, 1 hit
PfamiView protein in Pfam
PF00096 zf-C2H2, 6 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 6 hits
SUPFAMiSSF57667 SSF57667, 3 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 6 hits
PS50157 ZINC_FINGER_C2H2_2, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGFI1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99684
Secondary accession number(s): Q8N564
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: August 15, 2003
Last modified: December 5, 2018
This is version 170 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again