UniProtKB - A0PJY2 (FEZF1_HUMAN)
Fez family zinc finger protein 1
FEZF1
Functioni
Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity).
By similarityMiscellaneous
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 260 – 282 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 288 – 310 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 316 – 338 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 344 – 366 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 372 – 394 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 400 – 423 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 24 |
GO - Molecular functioni
- DNA-binding transcription factor activity Source: GO_Central
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- axon guidance Source: Ensembl
- cell dedifferentiation Source: Ensembl
- forebrain anterior/posterior pattern specification Source: Ensembl
- negative regulation of cell population proliferation Source: Ensembl
- neuron migration Source: Ensembl
- olfactory bulb development Source: Ensembl
- positive regulation of neuron differentiation Source: Ensembl
- positive regulation of transcription, DNA-templated Source: Ensembl
- regulation of neurogenesis Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Developmental protein, DNA-binding, Repressor |
Biological process | Differentiation, Neurogenesis, Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | A0PJY2 |
SignaLinki | A0PJY2 |
Names & Taxonomyi
Protein namesi | Recommended name: Fez family zinc finger protein 1Alternative name(s): Zinc finger protein 312B |
Gene namesi | Name:FEZF1 Synonyms:FEZ, ZNF312B |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:22788, FEZF1 |
MIMi | 613301, gene |
neXtProti | NX_A0PJY2 |
VEuPathDBi | HostDB:ENSG00000128610 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Hypogonadotropic hypogonadism 22 with or without anosmia (HH22)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071918 | 278 | H → Y in HH22; partial loss of function. 1 PublicationCorresponds to variant dbSNP:rs587777739EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Hypogonadotropic hypogonadism, Kallmann syndromeOrganism-specific databases
DisGeNETi | 389549 |
GeneReviewsi | FEZF1 |
MalaCardsi | FEZF1 |
MIMi | 616030, phenotype |
OpenTargetsi | ENSG00000128610 |
Orphaneti | 478, Kallmann syndrome |
PharmGKBi | PA162388419 |
Miscellaneous databases
Pharosi | A0PJY2, Tbio |
Genetic variation databases
BioMutai | FEZF1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000295114 | 1 – 475 | Fez family zinc finger protein 1Add BLAST | 475 |
Proteomic databases
jPOSTi | A0PJY2 |
MassIVEi | A0PJY2 |
PaxDbi | A0PJY2 |
PRIDEi | A0PJY2 |
ProteomicsDBi | 71 [A0PJY2-1] 72 [A0PJY2-2] 73 [A0PJY2-3] |
PTM databases
iPTMneti | A0PJY2 |
PhosphoSitePlusi | A0PJY2 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000128610, Expressed in hypothalamus and 47 other tissues |
ExpressionAtlasi | A0PJY2, baseline and differential |
Organism-specific databases
HPAi | ENSG00000128610, Tissue enriched (brain) |
Interactioni
Binary interactionsi
A0PJY2
Protein-protein interaction databases
BioGRIDi | 133180, 26 interactors |
IntActi | A0PJY2, 6 interactors |
STRINGi | 9606.ENSP00000411145 |
Miscellaneous databases
RNActi | A0PJY2, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 428 – 475 | DisorderedSequence analysisAdd BLAST | 48 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 28 – 43 | Engrailed homology 1 repressorBy similarityAdd BLAST | 16 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 436 – 466 | Pro residuesSequence analysisAdd BLAST | 31 |
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 260 – 282 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 288 – 310 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 316 – 338 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 344 – 366 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 372 – 394 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 400 – 423 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 24 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000159477 |
HOGENOMi | CLU_021813_2_1_1 |
InParanoidi | A0PJY2 |
OMAi | VNLHPMA |
OrthoDBi | 1318335at2759 |
PhylomeDBi | A0PJY2 |
TreeFami | TF316780 |
Family and domain databases
InterProi | View protein in InterPro IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00096, zf-C2H2, 5 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 6 hits |
SUPFAMi | SSF57667, SSF57667, 3 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 6 hits PS50157, ZINC_FINGER_C2H2_2, 6 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDSSCHNATT KMLATAPARG NMMSTSKPLA FSIERIMART PEPKALPVPH
60 70 80 90 100
FLQGALPKGE PKHSLHLNSS IPCMIPFVPV AYDTSPKAGV TGSEPRKASL
110 120 130 140 150
EAPAAPAAVP SAPAFSCSDL LNCALSLKGD LARDALPLQQ YKLVRPRVVN
160 170 180 190 200
HSSFHAMGAL CYLNRGDGPC HPAAGVNIHP VASYFLSSPL HPQPKTYLAE
210 220 230 240 250
RNKLVVPAVE KYPSGVAFKD LSQAQLQHYM KESAQLLSEK IAFKTSDFSR
260 270 280 290 300
GSPNAKPKVF TCEVCGKVFN AHYNLTRHMP VHTGARPFVC KVCGKGFRQA
310 320 330 340 350
STLCRHKIIH TQEKPHKCNQ CGKAFNRSST LNTHTRIHAG YKPFVCEFCG
360 370 380 390 400
KGFHQKGNYK NHKLTHSGEK QFKCNICNKA FHQVYNLTFH MHTHNDKKPF
410 420 430 440 450
TCPTCGKGFC RNFDLKKHVR KLHDSSLGLA RTPAGEPGTE PPPPLPQQPP
460 470
MTLPPLQPPL PTPGPLQPGL HQGHQ
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketC9J0C5 | C9J0C5_HUMAN | Fez family zinc finger protein 1 | FEZF1 | 35 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071918 | 278 | H → Y in HH22; partial loss of function. 1 PublicationCorresponds to variant dbSNP:rs587777739EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_026732 | 144 – 193 | Missing in isoform 2. 1 PublicationAdd BLAST | 50 | |
Alternative sequenceiVSP_026733 | 265 – 268 | Missing in isoform 3. Curated | 4 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK300742 mRNA Translation: BAG62411.1 CH236947 Genomic DNA Translation: EAL24342.1 BC127714 mRNA Translation: AAI27715.1 BC127715 mRNA Translation: AAI27716.1 BC136684 mRNA Translation: AAI36685.1 BC144367 mRNA Translation: AAI44368.1 |
CCDSi | CCDS34741.2 [A0PJY2-1] CCDS55157.1 [A0PJY2-2] |
RefSeqi | NP_001019784.2, NM_001024613.3 [A0PJY2-1] NP_001153736.1, NM_001160264.2 [A0PJY2-2] XP_005250394.1, XM_005250337.3 [A0PJY2-1] XP_011514504.1, XM_011516202.2 [A0PJY2-2] |
Genome annotation databases
Ensembli | ENST00000427185; ENSP00000392727; ENSG00000128610 [A0PJY2-2] ENST00000442488; ENSP00000411145; ENSG00000128610 |
GeneIDi | 389549 |
KEGGi | hsa:389549 |
MANE-Selecti | ENST00000442488.7; ENSP00000411145.2; NM_001024613.4; NP_001019784.2 |
UCSCi | uc003vkc.4, human [A0PJY2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK300742 mRNA Translation: BAG62411.1 CH236947 Genomic DNA Translation: EAL24342.1 BC127714 mRNA Translation: AAI27715.1 BC127715 mRNA Translation: AAI27716.1 BC136684 mRNA Translation: AAI36685.1 BC144367 mRNA Translation: AAI44368.1 |
CCDSi | CCDS34741.2 [A0PJY2-1] CCDS55157.1 [A0PJY2-2] |
RefSeqi | NP_001019784.2, NM_001024613.3 [A0PJY2-1] NP_001153736.1, NM_001160264.2 [A0PJY2-2] XP_005250394.1, XM_005250337.3 [A0PJY2-1] XP_011514504.1, XM_011516202.2 [A0PJY2-2] |
3D structure databases
SMRi | A0PJY2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 133180, 26 interactors |
IntActi | A0PJY2, 6 interactors |
STRINGi | 9606.ENSP00000411145 |
PTM databases
iPTMneti | A0PJY2 |
PhosphoSitePlusi | A0PJY2 |
Genetic variation databases
BioMutai | FEZF1 |
Proteomic databases
jPOSTi | A0PJY2 |
MassIVEi | A0PJY2 |
PaxDbi | A0PJY2 |
PRIDEi | A0PJY2 |
ProteomicsDBi | 71 [A0PJY2-1] 72 [A0PJY2-2] 73 [A0PJY2-3] |
Protocols and materials databases
Antibodypediai | 31725, 115 antibodies from 19 providers |
DNASUi | 389549 |
Genome annotation databases
Ensembli | ENST00000427185; ENSP00000392727; ENSG00000128610 [A0PJY2-2] ENST00000442488; ENSP00000411145; ENSG00000128610 |
GeneIDi | 389549 |
KEGGi | hsa:389549 |
MANE-Selecti | ENST00000442488.7; ENSP00000411145.2; NM_001024613.4; NP_001019784.2 |
UCSCi | uc003vkc.4, human [A0PJY2-1] |
Organism-specific databases
CTDi | 389549 |
DisGeNETi | 389549 |
GeneCardsi | FEZF1 |
GeneReviewsi | FEZF1 |
HGNCi | HGNC:22788, FEZF1 |
HPAi | ENSG00000128610, Tissue enriched (brain) |
MalaCardsi | FEZF1 |
MIMi | 613301, gene 616030, phenotype |
neXtProti | NX_A0PJY2 |
OpenTargetsi | ENSG00000128610 |
Orphaneti | 478, Kallmann syndrome |
PharmGKBi | PA162388419 |
VEuPathDBi | HostDB:ENSG00000128610 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000159477 |
HOGENOMi | CLU_021813_2_1_1 |
InParanoidi | A0PJY2 |
OMAi | VNLHPMA |
OrthoDBi | 1318335at2759 |
PhylomeDBi | A0PJY2 |
TreeFami | TF316780 |
Enzyme and pathway databases
PathwayCommonsi | A0PJY2 |
SignaLinki | A0PJY2 |
Miscellaneous databases
BioGRID-ORCSi | 389549, 5 hits in 1054 CRISPR screens |
GenomeRNAii | 389549 |
Pharosi | A0PJY2, Tbio |
PROi | PR:A0PJY2 |
RNActi | A0PJY2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000128610, Expressed in hypothalamus and 47 other tissues |
ExpressionAtlasi | A0PJY2, baseline and differential |
Family and domain databases
InterProi | View protein in InterPro IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF00096, zf-C2H2, 5 hits |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 6 hits |
SUPFAMi | SSF57667, SSF57667, 3 hits |
PROSITEi | View protein in PROSITE PS00028, ZINC_FINGER_C2H2_1, 6 hits PS50157, ZINC_FINGER_C2H2_2, 6 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | FEZF1_HUMAN | |
Accessioni | A0PJY2Primary (citable) accession number: A0PJY2 Secondary accession number(s): A0PJY3 B7ZM98 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 10, 2007 |
Last sequence update: | January 9, 2007 | |
Last modified: | February 23, 2022 | |
This is version 133 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families