ZNF148 - zinc finger protein 148 Gene

Also Known as BERF-1; BFCOL1; GDACCF; ZBP-89; ZFP148; pHZ-52; HT-BETA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7707

About ZNF148

Cytogenetic location: 3q21.2 Genomic coordinates (GRCh38): 3:125,225,669-125,375,354 (from NCBI)

This gene has 12 transcripts (splice variants), 205 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 14.7), ovary (RPKM 6.1) and 25 other tissues.

Summary

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]

ZNF148 Products (13)

mRNA Protein Name
NM_001348424.1 NP_001335353.1 zinc finger protein 148 isoform a
NM_001348425.2 NP_001335354.1 zinc finger protein 148 isoform a
NM_001348426.2 NP_001335355.1 zinc finger protein 148 isoform a
NM_001348427.2 NP_001335356.1 zinc finger protein 148 isoform a
NM_001348428.2 NP_001335357.1 zinc finger protein 148 isoform a
NM_001348429.2 NP_001335358.1 zinc finger protein 148 isoform a
NM_001348430.2 NP_001335359.1 zinc finger protein 148 isoform a
NM_001348431.2 NP_001335360.1 zinc finger protein 148 isoform a
NM_001348432.2 NP_001335361.1 zinc finger protein 148 isoform a
NM_001348433.2 NP_001335362.1 zinc finger protein 148 isoform a
NM_001348434.2 NP_001335363.1 zinc finger protein 148 isoform b
NM_001348436.2 NP_001335365.1 zinc finger protein 148 isoform c
NM_021964.3 NP_068799.2 zinc finger protein 148 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
12771217 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
12771217 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12771217 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
12771217 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
12771217 GOA
involved in negative regulation of gene expression IDA
IDA: Inferred from direct assay
12771217 GOA
involved in negative regulation of transcription by RNA polymerase II EXP
EXP: Inferred from Experiment
9685330 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12771217 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ZNF148 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (185 - 208)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (214 - 236)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (242 - 265)

  • 0
  • 200
  • 400
  • 600
  • 794 a.a.
Protein Preferred Names Protein Names

zinc finger protein 148

  • CACCC box-binding protein

ZNF148 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ZNF148 Q9UQR1 GLRX3 Homo sapiens O76003
Y2H Array
25416956
Intra
ZNF148 Q9UQR1 GLRX3 Homo sapiens O76003
Validated Y2H
25416956
Intra
ZNF148 Q9UQR1 TRIM10 Homo sapiens Q9UDY6
Y2H Array
25416956
Intra
ZNF148 Q9UQR1 GORASP2 Homo sapiens Q9H8Y8
Validated Y2H
25416956
Intra
ZNF148 Q9UQR1 GORASP2 Homo sapiens Q9H8Y8
Y2H Prey Pooling
25416956
Intra
ZNF148 Q9UQR1 CEP70 Homo sapiens Q8NHQ1
Validated Y2H
25416956
Intra
ZNF148 Q9UQR1 CEP70 Homo sapiens Q8NHQ1
Y2H Array
25416956
Intra
ZNF148 Q9UQR1 SIAH1 Homo sapiens Q8IUQ4
Y2H Prey Pooling
25416956
Intra
ZNF148 Q9UQR1 DEUP1 Homo sapiens Q05D60
Validated Y2H
25416956
Intra
ZNF148 Q9UQR1 DEUP1 Homo sapiens Q05D60
Y2H Prey Pooling
25416956
Intra
ZNF148 Q9UQR1 KRT31 Homo sapiens Q15323
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies

  • GDACCF

  • Developmental Disabilities
Hyperoxaluria, Primary, Type Iii

  • Primary Hyperoxaluria Type 3

  • HP3

  • Ph Iii

  • Primary Hyperoxaluria Type Iii

  • Hyperoxaluria Primary 3

  • Hyperoxaluria Non-Hp1/Non-Hp2

  • Hyperoxaluria Non-Ph I/Ph Ii Form

  • Hyperoxaluria Primary Type Iii
Colorectal Cancer

  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS16104 ZNF148 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris ZNF148 VGNC VGNC:48663
Felis catus ZNF148 VGNC VGNC:67269
Rattus norvegicus ZNF148 RGD RGD:62063
Macaca mulatta ZNF148 VGNC VGNC:78848
Mus musculus ZNF148 MGD MGI:1332234
Bos taurus ZNF148 VGNC VGNC:37212
Others ZNF148 NCBI