Seroatlas · Human Serome Atlas

ZNF148

Zinc finger protein 148

Also known as: BERF-1, BFCOL1, HT-BETA, pHZ-52, ZBP-89, ZFP148, ZN148_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9UQR1
Gene: ZNF148
Ensembl: ENSG00000163848
Chromosome: 3
Canonical length: 794 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]

Canonical amino-acid sequenceUniProt

794 residues, UniProt reviewed canonical sequence.

>Q9UQR1|ZNF148
     1  MNIDDKLEGL FLKCGGIDEM QSSRTMVVMG GVSGQSTVSG ELQDSVLQDR SMPHQEILAA
    61  DEVLQESEMR QQDMISHDEL MVHEETVKND EEQMETHERL PQGLQYALNV PISVKQEITF
   121  TDVSEQLMRD KKQIREPVDL QKKKKRKQRS PAKILTINED GSLGLKTPKS HVCEHCNAAF
   181  RTNYHLQRHV FIHTGEKPFQ CSQCDMRFIQ KYLLQRHEKI HTGEKPFRCD ECGMRFIQKY
   241  HMERHKRTHS GEKPYQCEYC LQYFSRTDRV LKHKRMCHEN HDKKLNRCAI KGGLLTSEED
   301  SGFSTSPKDN SLPKKKRQKT EKKSSGMDKE SALDKSDLKK DKNDYLPLYS SSTKVKDEYM
   361  VAEYAVEMPH SSVGGSHLED ASGEIHPPKL VLKKINSKRS LKQPLEQNQT ISPLSTYEES
   421  KVSKYAFELV DKQALLDSEG NADIDQVDNL QEGPSKPVHS STNYDDAMQF LKKKRYLQAA
   481  SNNSREYALN VGTIASQPSV TQAAVASVID ESTTASILES QALNVEIKSN HDKNVIPDEV
   541  LQTLLDHYSH KANGQHEISF SVADTEVTSS ISINSSEVPE VTPSENVGSS SQASSSDKAN
   601  MLQEYSKFLQ QALDRTSQND AYLNSPSLNF VTDNQTLPNQ PAFSSIDKQV YATMPINSFR
   661  SGMNSPLRTT PDKSHFGLIV GDSQHSFPFS GDETNHASAT STQDFLDQVT SQKKAEAQPV
   721  HQAYQMSSFE QPFRAPYHGS RAGIATQFST ANGQVNLRGP GTSAEFSEFP LVNVNDNRAG
   781  MTSSPDATTG QTFG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZNF148 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): 0.64
Highest tissue expression: 28 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 28 nTPM
thymus: 16 nTPM
parathyroid gland: 15 nTPM
heart muscle: 14 nTPM
ovary: 14 nTPM
tonsil: 13 nTPM

Single-cell type

neutrophils: 648 nCPM
microglia: 379 nCPM
neutrophil progenitors: 371 nCPM
myonuclei: 355 nCPM
gonadotrophs: 315 nCPM
podocytes: 293 nCPM

Immune cell

neutrophil: 50 nTPM
NK-cell: 32 nTPM
eosinophil: 31 nTPM
naive CD4 T-cell: 27 nTPM
memory B-cell: 24 nTPM
non-classical monocyte: 23 nTPM

Brain region

hypothalamus: 72 nTPM
cerebellum: 66 nTPM
cerebral cortex: 65 nTPM
thalamus: 60 nTPM
basal ganglia: 59 nTPM
white matter: 56 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZNF148.

Disease | AllUniProt

Conditions ZNF148 is implicated in, by any mechanism.

Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF) MIM:617260

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 166 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 0.1
gnomAD pLI: 1
gnomAD missense Z: 3.52
DepMap mean gene effect: -0.06
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 ZNF148 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 ZNF148 as an antibody target. Whether an autoantibody or antibody against ZNF148 could matter depends on whether native ZNF148 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZNF148 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 ZNF148 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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