Format

Send to:

Choose Destination

ZNF48 zinc finger protein 48 [ Homo sapiens (human) ]

Gene ID: 197407, updated on 23-Nov-2021

Summary

Official Symbol
ZNF48provided by HGNC
Official Full Name
zinc finger protein 48provided by HGNC
Primary source
HGNC:HGNC:13114
See related
Ensembl:ENSG00000180035
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ZNF553
Expression
Broad expression in appendix (RPKM 1.0), fat (RPKM 0.8) and 15 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ZNF48 in Genome Data Viewer
Location:
16p11.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (30378312..30400108)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30389633..30411429)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CD2BP2 divergent transcript Neighboring gene TBC1 domain family member 10B Neighboring gene myosin light chain, phosphorylatable, fast skeletal muscle Neighboring gene Sharpr-MPRA regulatory region 9884 Neighboring gene septin 1 Neighboring gene zinc finger protein 771 Neighboring gene small nucleolar RNA, H/ACA box 80C

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31751, MGC43952, DKFZp762K013

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
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 
Process Evidence Code Pubs
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
PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
zinc finger protein 48
Names
zinc finger protein 553

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_050732.1 RefSeqGene

    Range
    22109..26797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001214906.1NP_001201835.1  zinc finger protein 48 isoform 1

    See identical proteins and their annotated locations for NP_001201835.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR, compared to variant 1. Variants 1, 2 and 3 all encode the same isoform (1).
    Source sequence(s)
    AC116348, AK056313, CA434624, DA492655, DA508718
    Consensus CDS
    CCDS10679.1
    UniProtKB/Swiss-Prot
    Q96MX3
    Conserved Domains (5) summary
    COG5048
    Location:114499
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:573593
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:451473
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:557580
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001214907.1NP_001201836.1  zinc finger protein 48 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an alternate 5' exon, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1. Variants 4 and 5 both encode the same isoform (2).
    Source sequence(s)
    AC116348, CA434624, DA492655
    Consensus CDS
    CCDS73868.1
    UniProtKB/TrEMBL
    A0A087WVT1
    Related
    ENSP00000479658.1, ENST00000622647.3
    Conserved Domains (5) summary
    COG5048
    Location:67476
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:1939
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:450470
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:328350
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:434457
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001214909.2NP_001201838.1  zinc finger protein 48 isoform 1

    See identical proteins and their annotated locations for NP_001201838.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate 5' UTR, compared to variant 1. Variants 1, 2 and 3 all encode the same isoform (1).
    Source sequence(s)
    AC116348, BU854776, CA434624, CF594347
    Consensus CDS
    CCDS10679.1
    UniProtKB/Swiss-Prot
    Q96MX3
    Related
    ENSP00000480262.1, ENST00000613509.2
    Conserved Domains (5) summary
    COG5048
    Location:114499
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:573593
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:451473
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:557580
    zf-H2C2_2; Zinc-finger double domain
  4. NM_001324494.2NP_001311423.1  zinc finger protein 48 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) and variant 4 both encode the same isoform (2).
    Source sequence(s)
    AC116348
    Consensus CDS
    CCDS73868.1
    UniProtKB/TrEMBL
    A0A087WVT1
    Conserved Domains (5) summary
    COG5048
    Location:67476
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:1939
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:450470
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:328350
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:434457
    zf-H2C2_2; Zinc-finger double domain
  5. NM_152652.3NP_689865.2  zinc finger protein 48 isoform 1

    See identical proteins and their annotated locations for NP_689865.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 2 and 3 all encode the same isoform (1).
    Source sequence(s)
    AC116348, AK056313, CA434624
    Consensus CDS
    CCDS10679.1
    UniProtKB/Swiss-Prot
    Q96MX3
    Related
    ENSP00000324056.2, ENST00000320159.2
    Conserved Domains (5) summary
    COG5048
    Location:114499
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:114134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:573593
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:451473
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:557580
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    30378312..30400108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center