Seroatlas · Human Serome Atlas

GZF1

GDNF-inducible zinc finger protein 1

Also known as: dJ322G13.2, GZF1_HUMAN, ZBTB23, ZNF336

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

Protein identityUniProt · HPA

UniProt accession: Q9H116
Gene: GZF1
Ensembl: ENSG00000125812
Chromosome: 20
Canonical length: 711 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nucleoli

OverviewNCBI Gene

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

711 residues, UniProt reviewed canonical sequence.

>Q9H116|GZF1
     1  MESGAVLLES KSSPFNLLHE MHELRLLGHL CDVTVSVEYQ GVRKDFMAHK AVLAATSKFF
    61  KEVFLNEKSV DGTRTNVYLN EVQVADFASF LEFVYTAKVQ VEEDRVQRML EVAEKLKCLD
   121  LSETCFQLKK QMLESVLLEL QNFSESQEVE VSSGSQVSAA PAPRASVATD GPHPSGLTDS
   181  LDYPGERASN GMSSDLPPKK SKDKLDKKKE VVKPPYPKIR RASGRLAGRK VFVEIPKKKY
   241  TRRLREQQKT AEGDVGDYRC PQDQSPDRVG TEMEQVSKNE GCQAGAELEE LSKKAGPEEE
   301  EEEEEEDEEG EKKKSNFKCS ICEKAFLYEK SFLKHSKHRH GVATEVVYRC DTCGQTFANR
   361  CNLKSHQRHV HSSERHFPCE LCGKKFKRKK DVKRHVLQVH EGGGERHRCG QCGKGLSSKT
   421  ALRLHERTHT GDRPYGCTEC GARFSQPSAL KTHMRIHTGE KPFVCDECGA RFTQNHMLIY
   481  HKRCHTGERP FMCETCGKSF ASKEYLKHHN RIHTGSKPFK CEVCFRTFAQ RNSLYQHIKV
   541  HTGERPYCCD QCGKQFTQLN ALQRHRRIHT GERPFMCNAC GRTFTDKSTL RRHTSIHDKN
   601  TPWKSFLVIV DGSPKNDDGH KTEQPDEEYV SSKLSDKLLS FAENGHFHNL AAVQDTVPTM
   661  QENSSADTAC KADDSVVSQD TLLATTISEL SELTPQTDSM PTQLHSLSNM E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GZF1 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): 0.49
Highest tissue expression: 30 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 30 nTPM
adrenal gland: 18 nTPM
testis: 12 nTPM
heart muscle: 12 nTPM
blood vessel: 11 nTPM
midbrain: 10 nTPM

Single-cell type

late spermatids: 43 nCPM
neutrophils: 39 nCPM
monocytes: 35 nCPM
macrophages: 33 nCPM
cdc: 30 nCPM
late primary spermatocytes: 25 nCPM

Immune cell

classical monocyte: 1.6 nTPM
myeloid DC: 1.6 nTPM
plasmacytoid DC: 1.3 nTPM
neutrophil: 1.2 nTPM
non-classical monocyte: 1.2 nTPM
memory B-cell: 1 nTPM

Brain region

midbrain: 22 nTPM
thalamus: 20 nTPM
cerebellum: 18 nTPM
spinal cord: 17 nTPM
cerebral cortex: 17 nTPM
basal ganglia: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GZF1.

Disease | AllUniProt

Conditions GZF1 is implicated in, by any mechanism.

Joint laxity, short stature, and myopia (JLSM) MIM:617662

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 297 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Joint laxity, short stature, and myopia

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): 0.65
gnomAD pLI: 0
gnomAD missense Z: 1.95
DepMap mean gene effect: 0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% 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

InteractionsUniProt · HPA

Protein binding partners of GZF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GZF1 as an antibody target. Whether an autoantibody or antibody against GZF1 could matter depends on whether native GZF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GZF1 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 GZF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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