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Protein

Fez family zinc finger protein 1

Gene

FEZF1

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

Miscellaneous

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

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

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation
LigandMetal-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

EuPathDBiHostDB:ENSG00000128610.11
HGNCiHGNC:22788 FEZF1
MIMi613301 gene
neXtProtiNX_A0PJY2

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

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 dbSNP:rs587777739EnsemblClinVar.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
ProteomicsDBi71
72 [A0PJY2-2]
73 [A0PJY2-3]

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

Organism-specific databases

HPAiHPA064639
HPA073693

Interactioni

Protein-protein interaction databases

BioGridi133180, 25 interactors
IntActiA0PJY2, 6 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

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

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
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

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 dbSNP:rs587777739EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiFEZF1_HUMAN
AccessioniPrimary (citable) accession number: A0PJY2
Secondary accession number(s): A0PJY3
, A4D0W3, B4DUP9, B7ZM98
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: January 9, 2007
Last modified: June 20, 2018
This is version 110 of the entry and version 1 of the sequence. See 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

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

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