Seroatlas · Human Serome Atlas

FEZF1

Fez family zinc finger protein 1

Also known as: FEZF1_HUMAN, ZNF312B

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: A0PJY2
Gene: FEZF1
Ensembl: ENSG00000128610
Chromosome: 7
Canonical length: 475 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

475 residues, UniProt reviewed canonical sequence.

>A0PJY2|FEZF1
     1  MDSSCHNATT KMLATAPARG NMMSTSKPLA FSIERIMART PEPKALPVPH FLQGALPKGE
    61  PKHSLHLNSS IPCMIPFVPV AYDTSPKAGV TGSEPRKASL EAPAAPAAVP SAPAFSCSDL
   121  LNCALSLKGD LARDALPLQQ YKLVRPRVVN HSSFHAMGAL CYLNRGDGPC HPAAGVNIHP
   181  VASYFLSSPL HPQPKTYLAE RNKLVVPAVE KYPSGVAFKD LSQAQLQHYM KESAQLLSEK
   241  IAFKTSDFSR GSPNAKPKVF TCEVCGKVFN AHYNLTRHMP VHTGARPFVC KVCGKGFRQA
   301  STLCRHKIIH TQEKPHKCNQ CGKAFNRSST LNTHTRIHAG YKPFVCEFCG KGFHQKGNYK
   361  NHKLTHSGEK QFKCNICNKA FHQVYNLTFH MHTHNDKKPF TCPTCGKGFC RNFDLKKHVR
   421  KLHDSSLGLA RTPAGEPGTE PPPPLPQQPP MTLPPLQPPL PTPGPLQPGL HQGHQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FEZF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.57
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

hypothalamus: 13 nTPM
testis: 4.2 nTPM
basal ganglia: 3.7 nTPM
amygdala: 3.2 nTPM
pituitary gland: 3 nTPM
retina: 2.3 nTPM

Single-cell type

gastric progenitor cells: 36 nCPM
late primary spermatocytes: 20 nCPM
pituicytes/fscs: 9.2 nCPM
retinal bipolar cells: 6.3 nCPM
oocytes: 4.6 nCPM
other brain neurons: 3.4 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

hypothalamus: 270 nTPM
basal ganglia: 7.1 nTPM
midbrain: 6.7 nTPM
amygdala: 6.4 nTPM
cerebral cortex: 5.5 nTPM
thalamus: 3.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FEZF1.

Disease | AllUniProt

Conditions FEZF1 is implicated in, by any mechanism.

Hypogonadotropic hypogonadism 22 with or without anosmia (HH22) MIM:616030

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 139 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hypogonadotropic hypogonadism 22 with anosmia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.34
gnomAD pLI: 0.95
gnomAD missense Z: 1.29
DepMap mean gene effect: 0.15
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FEZF1 as an antibody target. Whether an autoantibody or antibody against FEZF1 could matter depends on whether native FEZF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FEZF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FEZF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...