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CNBP CCHC-type zinc finger nucleic acid binding protein [ Homo sapiens (human) ]

Gene ID: 7555, updated on 9-Dec-2018

Summary

Official Symbol
CNBPprovided by HGNC
Official Full Name
CCHC-type zinc finger nucleic acid binding proteinprovided by HGNC
Primary source
HGNC:HGNC:13164
See related
Ensembl:ENSG00000169714 MIM:116955
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
DM2; ZNF9; CNBP1; PROMM; RNF163; ZCCHC22
Summary
This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in ovary (RPKM 93.4), heart (RPKM 89.1) and 25 other tissues See more
Orthologs

Genomic context

See CNBP in Genome Data Viewer
Location:
3q21.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (129167815..129183967, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128886658..128902810, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ISY1-RAB43 readthrough Neighboring gene RAB43, member RAS oncogene family Neighboring gene ISY1 splicing factor homolog Neighboring gene myotonic dystrophy type 2 repeat instability region Neighboring gene uncharacterized LOC105374101 Neighboring gene NFE2L2 motif-containing MPRA enhancer 136

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11631

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding HDA PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
single-stranded RNA binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
cellular nucleic acid-binding protein
Names
erythroid differentiation-related
sterol regulatory element-binding protein
zinc finger protein 273
zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)

NCBI Reference Sequences (RefSeq)

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_011902.1 RefSeqGene

    Range
    5001..21153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127192.1NP_001120664.1  cellular nucleic acid-binding protein isoform 1

    See identical proteins and their annotated locations for NP_001120664.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC108673, AK292119, BU616793, DB027227
    Consensus CDS
    CCDS46906.1
    UniProtKB/Swiss-Prot
    P62633
    Related
    ENSP00000410769.2, ENST00000441626.6
    Conserved Domains (1) summary
    cl26705
    Location:54173
    AIR1; Arginine methyltransferase-interacting protein, contains RING Zn-finger [Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]
  2. NM_001127193.1NP_001120665.1  cellular nucleic acid-binding protein isoform 2

    See identical proteins and their annotated locations for NP_001120665.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant, also known as alpha variant 1, uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AC108673, BU616793, DB027227, DQ091187
    Consensus CDS
    CCDS46907.1
    UniProtKB/Swiss-Prot
    P62633
    Related
    ENSP00000399488.2, ENST00000451728.6
    Conserved Domains (1) summary
    cl26705
    Location:54172
    AIR1; Arginine methyltransferase-interacting protein, contains RING Zn-finger [Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]
  3. NM_001127194.1NP_001120666.1  cellular nucleic acid-binding protein isoform 4

    See identical proteins and their annotated locations for NP_001120666.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant, also known as beta variant 2, uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 4).
    Source sequence(s)
    AC108673, BU616793, DA606481, DB027227, DQ092367
    Consensus CDS
    CCDS46908.1
    UniProtKB/Swiss-Prot
    P62633
    Related
    ENSP00000400444.2, ENST00000446936.6
    Conserved Domains (1) summary
    cl26705
    Location:47166
    AIR1; Arginine methyltransferase-interacting protein, contains RING Zn-finger [Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]
  4. NM_001127195.1NP_001120667.1  cellular nucleic acid-binding protein isoform 5

    See identical proteins and their annotated locations for NP_001120667.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant, also known as beta variant 1, uses two alternate in-frame splice sites in the 5' and central coding regions, compared to variant 1, resulting in a shorter protein (isoform 5).
    Source sequence(s)
    AC108673, BU616793, DB027227, DQ092366
    UniProtKB/Swiss-Prot
    P62633
    Conserved Domains (1) summary
    cl26705
    Location:47165
    AIR1; Arginine methyltransferase-interacting protein, contains RING Zn-finger [Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]
  5. NM_001127196.1NP_001120668.1  cellular nucleic acid-binding protein isoform 6

    See identical proteins and their annotated locations for NP_001120668.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant uses two alternate in-frame splice sites in the 5' and central coding regions, compared to variant 1, resulting in a shorter protein (isoform 6).
    Source sequence(s)
    AC108673, BC014911, BU616793, DB027227
    Consensus CDS
    CCDS54637.1
    UniProtKB/Swiss-Prot
    P62633
    UniProtKB/TrEMBL
    A0A0S2Z4Q3
    Related
    ENSP00000421323.1, ENST00000502976.5
    Conserved Domains (1) summary
    cl26705
    Location:47164
    AIR1; Arginine methyltransferase-interacting protein, contains RING Zn-finger [Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]
  6. NM_003418.4NP_003409.1  cellular nucleic acid-binding protein isoform 3

    See identical proteins and their annotated locations for NP_003409.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in a shorter protein (isoform 3).
    Source sequence(s)
    AC108673, BC093058, BU616793, DB027227
    Consensus CDS
    CCDS3056.1
    UniProtKB/Swiss-Prot
    P62633
    UniProtKB/TrEMBL
    A0A0S2Z4K2
    Related
    ENSP00000410619.2, ENST00000422453.6
    Conserved Domains (1) summary
    cl26705
    Location:54171
    AIR1; Arginine methyltransferase-interacting protein, contains RING Zn-finger [Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    129167815..129183967 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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