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Protein

Fez family zinc finger protein 1

Gene

FEZF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri260 – 282C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri288 – 310C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri316 – 338C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri344 – 366C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri372 – 394C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri400 – 423C2H2-type 6PROSITE-ProRule annotationAdd BLAST24

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Fez family zinc finger protein 1
Alternative name(s):
Zinc finger protein 312B
Gene namesi
Name:FEZF1
Synonyms:FEZ, ZNF312B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:22788. FEZF1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hypogonadotropic hypogonadism 22 with or without anosmia (HH22)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
See also OMIM:616030
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071918278H → Y in HH22; partial loss of function. 1 PublicationCorresponds to variant rs587777739dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNETi389549.
MalaCardsiFEZF1.
MIMi616030. phenotype.
OpenTargetsiENSG00000128610.
Orphaneti478. Kallmann syndrome.
PharmGKBiPA162388419.

Polymorphism and mutation databases

BioMutaiFEZF1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002951141 – 475Fez family zinc finger protein 1Add BLAST475

Proteomic databases

PaxDbiA0PJY2.
PRIDEiA0PJY2.

PTM databases

iPTMnetiA0PJY2.
PhosphoSitePlusiA0PJY2.

Expressioni

Tissue specificityi

Expressed in brain. Little or no expression in other tissues. Overexpressed specifically in gastric cancers. A 2-to 20-fold increase is found in over 50% of gastric cancer tissues.1 Publication

Gene expression databases

BgeeiENSG00000128610.
CleanExiHS_FEZF1.
ExpressionAtlasiA0PJY2. baseline and differential.

Interactioni

Protein-protein interaction databases

BioGridi133180. 2 interactors.
IntActiA0PJY2. 4 interactors.
STRINGi9606.ENSP00000411145.

Structurei

3D structure databases

ProteinModelPortaliA0PJY2.
SMRiA0PJY2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi28 – 43Engrailed homology 1 repressorBy similarityAdd BLAST16

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi433 – 468Pro-richAdd BLAST36

Sequence similaritiesi

Contains 6 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri260 – 282C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri288 – 310C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri316 – 338C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri344 – 366C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri372 – 394C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri400 – 423C2H2-type 6PROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00740000115096.
HOGENOMiHOG000013052.
HOVERGENiHBG098441.
InParanoidiA0PJY2.
OMAiCHNATAK.
OrthoDBiEOG091G0ISJ.
PhylomeDBiA0PJY2.
TreeFamiTF316780.

Family and domain databases

Gene3Di3.30.160.60. 6 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 2 hits.
PF13912. zf-C2H2_6. 2 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 6 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 6 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A0PJY2-1) [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

        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
Length:475
Mass (Da):52,038
Last modified:January 9, 2007 - v1
Checksum:iA26945A0C4E9316A
GO
Isoform 2 (identifier: A0PJY2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     144-193: Missing.

Note: No experimental confirmation available.
Show »
Length:425
Mass (Da):46,677
Checksum:iBD12C0C98DB12E2A
GO
Isoform 3 (identifier: A0PJY2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     265-268: Missing.

Note: Gene prediction based on EST data.
Show »
Length:471
Mass (Da):51,651
Checksum:iFD6569909179F243
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071918278H → Y in HH22; partial loss of function. 1 PublicationCorresponds to variant rs587777739dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_026732144 – 193Missing in isoform 2. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_026733265 – 268Missing in isoform 3. Curated4

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.
CCDSiCCDS34741.2. [A0PJY2-1]
CCDS55157.1. [A0PJY2-2]
RefSeqiNP_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]
UniGeneiHs.553970.

Genome annotation databases

EnsembliENST00000427185; ENSP00000392727; ENSG00000128610. [A0PJY2-2]
ENST00000442488; ENSP00000411145; ENSG00000128610. [A0PJY2-1]
GeneIDi389549.
KEGGihsa:389549.
UCSCiuc003vkc.4. human. [A0PJY2-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS34741.2. [A0PJY2-1]
CCDS55157.1. [A0PJY2-2]
RefSeqiNP_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]
UniGeneiHs.553970.

3D structure databases

ProteinModelPortaliA0PJY2.
SMRiA0PJY2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi133180. 2 interactors.
IntActiA0PJY2. 4 interactors.
STRINGi9606.ENSP00000411145.

PTM databases

iPTMnetiA0PJY2.
PhosphoSitePlusiA0PJY2.

Polymorphism and mutation databases

BioMutaiFEZF1.

Proteomic databases

PaxDbiA0PJY2.
PRIDEiA0PJY2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000427185; ENSP00000392727; ENSG00000128610. [A0PJY2-2]
ENST00000442488; ENSP00000411145; ENSG00000128610. [A0PJY2-1]
GeneIDi389549.
KEGGihsa:389549.
UCSCiuc003vkc.4. human. [A0PJY2-1]

Organism-specific databases

CTDi389549.
DisGeNETi389549.
GeneCardsiFEZF1.
HGNCiHGNC:22788. FEZF1.
MalaCardsiFEZF1.
MIMi613301. gene.
616030. phenotype.
neXtProtiNX_A0PJY2.
OpenTargetsiENSG00000128610.
Orphaneti478. Kallmann syndrome.
PharmGKBiPA162388419.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00740000115096.
HOGENOMiHOG000013052.
HOVERGENiHBG098441.
InParanoidiA0PJY2.
OMAiCHNATAK.
OrthoDBiEOG091G0ISJ.
PhylomeDBiA0PJY2.
TreeFamiTF316780.

Miscellaneous databases

GenomeRNAii389549.
PROiA0PJY2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128610.
CleanExiHS_FEZF1.
ExpressionAtlasiA0PJY2. baseline and differential.

Family and domain databases

Gene3Di3.30.160.60. 6 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 2 hits.
PF13912. zf-C2H2_6. 2 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 6 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFEZF1_HUMAN
AccessioniPrimary (citable) accession number: A0PJY2
Secondary accession number(s): A0PJY3
, A4D0W3, B4DUP9, B7ZM98
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: January 9, 2007
Last modified: November 30, 2016
This is version 98 of the entry and version 1 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

Miscellaneous

Triggers oncogenic activity specifically in gastric tumors through activation of KRAS in the ERK signaling pathway.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.