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    ZNF148 zinc finger protein 148 [ Homo sapiens (human) ]

    Gene ID: 7707, updated on 7-Apr-2024

    Summary

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    Official Symbol
    ZNF148provided by HGNC
    Official Full Name
    zinc finger protein 148provided by HGNC
    Primary source
    HGNC:HGNC:12933
    See related
    Ensembl:ENSG00000163848 MIM:601897; AllianceGenome:HGNC:12933
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BERF-1; BFCOL1; GDACCF; ZBP-89; ZFP148; pHZ-52; HT-BETA
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 14.7), ovary (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF148 in Genome Data Viewer
    Location:
    3q21.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (125225669..125375354, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (127952391..128102007, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (124944513..125094198, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20416 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124839347-124839853 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124839854-124840359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20417 Neighboring gene RNA, U6 small nuclear 230, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:124860668-124861491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124862005-124862958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20425 Neighboring gene NANOG hESC enhancer GRCh37_chr3:124872987-124873488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20426 Neighboring gene microRNA 5092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20427 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124930713-124931312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14665 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:124950809-124952008 Neighboring gene NANOG hESC enhancer GRCh37_chr3:125058886-125059484 Neighboring gene deoxyuridine triphosphatase pseudogene 1 Neighboring gene DNAJB6 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125087248-125087748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125087749-125088249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20428 Neighboring gene uncharacterized LOC105374080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20429 Neighboring gene RNA, U6 small nuclear 232, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Loss of ZNF148 enhances insulin secretion in human pancreatic β cells. de Klerk E, et al. JCI Insight, 2023 Jun 8. PMID 37288664, Free PMC Article
    2. Regulation between two alternative splicing isoforms ZNF148(FL) and ZNF148(ΔN), and their roles in the apoptosis and invasion of colorectal cancer. Liu Y, et al. Pathol Res Pract, 2019 Feb. PMID 30463804
    3. Targeting ZBP-89 for the treatment of hepatocellular carcinoma. Wang N, et al. Expert Opin Ther Targets, 2018 Oct. PMID 30142986
    4. Transcription factor ZNF148 is a negative regulator of human muscle differentiation. Bakke J, et al. Sci Rep, 2017 Aug 15. PMID 28811660, Free PMC Article
    5. ZNF148 modulates TOP2A expression and cell proliferation via ceRNA regulatory mechanism in colorectal cancer. Gao XH, et al. Medicine (Baltimore), 2017 Jan. PMID 28072746, Free PMC Article

    See all (119) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
      Title: Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
    2. Upregulation of the ZNF148/PTX3 axis promotes malignant transformation of dendritic cells in glioma stem-like cells microenvironment.
      Title: Upregulation of the ZNF148/PTX3 axis promotes malignant transformation of dendritic cells in glioma stem-like cells microenvironment.
    3. Loss of ZNF148 enhances insulin secretion in human pancreatic beta cells.
      Title: Loss of ZNF148 enhances insulin secretion in human pancreatic β cells.
    4. Identification of the MALAT1/miR-106a-5p/ZNF148 feedback loop in regulating HaCaT cell proliferation, migration and apoptosis.
      Title: Identification of the MALAT1/miR-106a-5p/ZNF148 feedback loop in regulating HaCaT cell proliferation, migration and apoptosis.
    5. Loss of microRNA-147 function alleviates synovial inflammation through ZNF148 in rheumatoid and experimental arthritis.
      Title: Loss of microRNA-147 function alleviates synovial inflammation through ZNF148 in rheumatoid and experimental arthritis.
    6. ZBP-89 negatively regulates self-renewal of liver cancer stem cells via suppression of Notch1 signaling pathway.
      Title: ZBP-89 negatively regulates self-renewal of liver cancer stem cells via suppression of Notch1 signaling pathway.
    7. Here, we show that succinate accumulation induced by SDHB loss of function increased the expression of zinc finger protein 148 (ZNF148, also named ZBP-89) in astrointestinal stromal tumor (GIST) cells. Meanwhile, ZNF148 is found to be phosphorylated by ERK at Ser306, and this phosphorylation results in ZNF148 binding to Forkhead box M1 (FOXM1)
      Title: Upregulation of ZNF148 in SDHB-deficient gastrointestinal stromal tumor potentiates Forkhead box M1-mediated transcription and promotes tumor cell invasion.
    8. ZNF148(FL) could increase proliferation, invasion, and migration of colorectal cancer cells, while ZNF148(DeltaN) showed opposite effect; the two splicing isoforms of ZNF148 may exert a mutual antagonistic effect to each other on the malignant biological activities.
      Title: Regulation between two alternative splicing isoforms ZNF148(FL) and ZNF148(ΔN), and their roles in the apoptosis and invasion of colorectal cancer.
    9. Downregulation of ZNF148 drives the formation of a muscle phenotype with rapid expression of myosin heavy chain, even in proliferative conditions. This phenotype was most likely mediated by the robust and swift upregulation of MYOD and MEF2C.
      Title: Transcription factor ZNF148 is a negative regulator of human muscle differentiation.
    10. ZBP-89 is a potential tumor suppressor in hepatocellular carcinoma (HCC) and it can inhibit the growth of HCC via multiple channels; higher expression of ZBP-89 may predict better survivals and lower recurrence of HCC patients
      Title: Targeting ZBP-89 for the treatment of hepatocellular carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
    MedGen: C4310644 OMIM: 617260 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of zinc finger protein 148 (ZNF148) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686L18248

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular defense response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in gamete generation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II EXP
    Inferred from Experiment
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 148
    Names
    CACCC box-binding protein
    CLL-associated antigen KW-10
    transcription factor ZBP-89
    zinc finger DNA-binding protein 89

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052987.1 RefSeqGene

      Range
      5030..154686
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001348424.1 → NP_001335353.1  zinc finger protein 148 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-11 all encode the same isoform (a).
      Source sequence(s)
      AC108688
      Consensus CDS
      CCDS3031.1
      UniProtKB/Swiss-Prot
      D3DN27, O00389, O43591, Q58EY5, Q6PJ98, Q9UQR1
      UniProtKB/TrEMBL
      Q8TDH4
      Conserved Domains (3) summary
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:171 → 193
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:214 → 238
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001348425.2 → NP_001335354.1  zinc finger protein 148 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-11 all encode the same isoform (a).
      Source sequence(s)
      AA481164, AC108688, BC050260, DA726996
      Consensus CDS
      CCDS3031.1
      UniProtKB/Swiss-Prot
      D3DN27, O00389, O43591, Q58EY5, Q6PJ98, Q9UQR1
      UniProtKB/TrEMBL
      Q8TDH4
      Related
      ENSP00000420448.1, ENST00000485866.5
      Conserved Domains (3) summary
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:171 → 193
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:214 → 238
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001348426.2 → NP_001335355.1  zinc finger protein 148 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-11 all encode the same isoform (a).
      Source sequence(s)
      AA481164, AC108688, BM917104, BQ441085, N27696
      Consensus CDS
      CCDS3031.1
      UniProtKB/Swiss-Prot
      D3DN27, O00389, O43591, Q58EY5, Q6PJ98, Q9UQR1
      UniProtKB/TrEMBL
      Q8TDH4
      Conserved Domains (3) summary
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:171 → 193
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:214 → 238
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001348427.2 → NP_001335356.1  zinc finger protein 148 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-11 all encode the same isoform (a).
      Source sequence(s)
      AA481164, AC108688, AU121036, BM917104, BP237604, DA225087
      Consensus CDS
      CCDS3031.1
      UniProtKB/Swiss-Prot
      D3DN27, O00389, O43591, Q58EY5, Q6PJ98, Q9UQR1
      UniProtKB/TrEMBL
      Q8TDH4
      Related
      ENSP00000420038.2, ENST00000471196.2
      Conserved Domains (3) summary
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:171 → 193
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:214 → 238
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001348428.2 → NP_001335357.1  zinc finger protein 148 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-11 all encode the same isoform (a).
      Source sequence(s)
      AA481164, AC108688, AU121036, BM917104, BP237604, DA780458, DB145818
      Consensus CDS
      CCDS3031.1
      UniProtKB/Swiss-Prot
      D3DN27, O00389, O43591, Q58EY5, Q6PJ98, Q9UQR1
      UniProtKB/TrEMBL
      Q8TDH4
      Conserved Domains (3) summary
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:171 → 193
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:214 → 238
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001348429.2 → NP_001335358.1  zinc finger protein 148 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1-11 all encode the same isoform (a).
      Source sequence(s)
      AA481164, AC108688, BQ441085, BU178504
      Consensus CDS
      CCDS3031.1
      UniProtKB/Swiss-Prot
      D3DN27, O00389, O43591, Q58EY5, Q6PJ98, Q9UQR1
      UniProtKB/TrEMBL
      Q8TDH4
      Conserved Domains (3) summary
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:171 → 193
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:214 → 238
      zf-H2C2_2; Zinc-finger double domain

    7. NM_001348430.2 → NP_001335359.1  zinc finger protein 148 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1-11 all encode the same isoform (a).
      Source sequence(s)
      AA481164, AC108688, AF432210, BQ674550
      Consensus CDS
      CCDS3031.1
      UniProtKB/Swiss-Prot
      D3DN27, O00389, O43591, Q58EY5, Q6PJ98, Q9UQR1
      UniProtKB/TrEMBL
      Q8TDH4
      Related
      ENSP00000420335.1, ENST00000484491.5
      Conserved Domains (3) summary
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:171 → 193
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:214 → 238
      zf-H2C2_2; Zinc-finger double domain

    8. NM_001348431.2 → NP_001335360.1  zinc finger protein 148 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. Variants 1-11 all encode the same isoform (a).
      Source sequence(s)
      AA481164, AC108688, BQ441085, BU178504, CR980884
      Consensus CDS
      CCDS3031.1
      UniProtKB/Swiss-Prot
      D3DN27, O00389, O43591, Q58EY5, Q6PJ98, Q9UQR1
      UniProtKB/TrEMBL
      Q8TDH4
      Related
      ENSP00000419322.1, ENST00000492394.5
      Conserved Domains (3) summary
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:171 → 193
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:214 → 238
      zf-H2C2_2; Zinc-finger double domain

    9. NM_001348432.2 → NP_001335361.1  zinc finger protein 148 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. Variants 1-11 all encode the same isoform (a).
      Source sequence(s)
      AA481164, AC108688, BQ441085, BU178504, DA780458
      Consensus CDS
      CCDS3031.1
      UniProtKB/Swiss-Prot
      D3DN27, O00389, O43591, Q58EY5, Q6PJ98, Q9UQR1
      UniProtKB/TrEMBL
      Q8TDH4
      Related
      ENSP00000514760.1, ENST00000700044.1
      Conserved Domains (3) summary
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:171 → 193
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:214 → 238
      zf-H2C2_2; Zinc-finger double domain

    10. NM_001348433.2 → NP_001335362.1  zinc finger protein 148 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. Variants 1-11 all encode the same isoform (a).
      Source sequence(s)
      AA481164, AC108688, BP378362, BU178504, BU941780, CV571288
      Consensus CDS
      CCDS3031.1
      UniProtKB/Swiss-Prot
      D3DN27, O00389, O43591, Q58EY5, Q6PJ98, Q9UQR1
      UniProtKB/TrEMBL
      Q8TDH4
      Conserved Domains (3) summary
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:171 → 193
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:214 → 238
      zf-H2C2_2; Zinc-finger double domain

    11. NM_001348434.2 → NP_001335363.1  zinc finger protein 148 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AA481164, AC108688, AU121036, BM917104, DA492993
      UniProtKB/TrEMBL
      Q8TDH4
      Conserved Domains (3) summary
      sd00017
      Location:131 → 151
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:129 → 151
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:172 → 196
      zf-H2C2_2; Zinc-finger double domain

    12. NM_001348436.2 → NP_001335365.1  zinc finger protein 148 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR, 3' UTR, and 3' coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC108688, BC050260, DA726996, GD148926
      Related
      ENST00000700212.1
      Conserved Domains (3) summary
      COG5048
      Location:166 → 231
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:185 → 210
      zf-H2C2_2; Zinc-finger double domain

    13. NM_021964.3 → NP_068799.2  zinc finger protein 148 isoform a

      See identical proteins and their annotated locations for NP_068799.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-11 all encode the same isoform (a).
      Source sequence(s)
      AC108688
      Consensus CDS
      CCDS3031.1
      UniProtKB/Swiss-Prot
      D3DN27, O00389, O43591, Q58EY5, Q6PJ98, Q9UQR1
      UniProtKB/TrEMBL
      Q8TDH4
      Related
      ENSP00000353863.4, ENST00000360647.9
      Conserved Domains (3) summary
      sd00017
      Location:173 → 193
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:171 → 193
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:214 → 238
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      125225669..125375354 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      127952391..128102007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UQR1.2 GenPept UniProtKB/Swiss-Prot:Q9UQR1

    Gene LinkOut

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