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ZNF189 zinc finger protein 189 [ Homo sapiens (human) ]

Gene ID: 7743, updated on 1-Jun-2020

Summary

Official Symbol
ZNF189provided by HGNC
Official Full Name
zinc finger protein 189provided by HGNC
Primary source
HGNC:HGNC:12980
See related
Ensembl:ENSG00000136870 MIM:603132
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
Summary
Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010]
Expression
Ubiquitous expression in gall bladder (RPKM 12.4), fat (RPKM 10.6) and 25 other tissues See more
Orthologs

Genomic context

See ZNF189 in Genome Data Viewer
Location:
9q31.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (101398830..101410660)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (104161136..104172942)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene bile acid-CoA:amino acid N-acyltransferase Neighboring gene forty-two-three domain containing 1 pseudogene 1 Neighboring gene mitochondrial ribosomal protein L50 Neighboring gene aldolase, fructose-bisphosphate B Neighboring gene uncharacterized LOC105376184

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

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.

mRNA and Protein(s)

  1. NM_001278231.2NP_001265160.1  zinc finger protein 189 isoform 3

    See identical proteins and their annotated locations for NP_001265160.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK290163, AL353621, BC092425, BC126120
    Consensus CDS
    CCDS65096.1
    UniProtKB/Swiss-Prot
    O75820
    Related
    ENSP00000363995.3, ENST00000374861.7
    Conserved Domains (4) summary
    COG5048
    Location:124510
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:332352
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:1040
    KRAB; KRAB box
    pfam13465
    Location:541565
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001278232.2NP_001265161.1  zinc finger protein 189 isoform 4

    See identical proteins and their annotated locations for NP_001265161.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK290163, AL353621, BC092425, BC143877
    UniProtKB/Swiss-Prot
    O75820
    UniProtKB/TrEMBL
    B7ZLK9
    Conserved Domains (4) summary
    COG5048
    Location:123509
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:331351
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:1239
    KRAB; KRAB box
    pfam13465
    Location:540564
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001278240.1NP_001265169.1  zinc finger protein 189 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice junction at the 5' end of an exon and contains an alternate 3' exon compared to variant 1. The resulting isoform (5) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AF025770, AK290163, AL353621, BC092425, BX420042
    Consensus CDS
    CCDS75867.1
    UniProtKB/Swiss-Prot
    O75820
    UniProtKB/TrEMBL
    A0A087X0K2
    Related
    ENSP00000483461.1, ENST00000615466.1
    Conserved Domains (3) summary
    smart00349
    Location:1049
    KRAB; krueppel associated box
    pfam01352
    Location:1039
    KRAB; KRAB box
    pfam13900
    Location:6781
    GVQW; Putative domain of unknown function
  4. NM_003452.4NP_003443.2  zinc finger protein 189 isoform 1

    See identical proteins and their annotated locations for NP_003443.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK290163, AL353621, BC092425
    Consensus CDS
    CCDS6754.1
    UniProtKB/Swiss-Prot
    O75820
    Related
    ENSP00000342019.2, ENST00000339664.6
    Conserved Domains (4) summary
    COG5048
    Location:138524
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:346366
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:1354
    KRAB; KRAB box
    pfam13465
    Location:555579
    zf-H2C2_2; Zinc-finger double domain
  5. NM_197977.3NP_932094.1  zinc finger protein 189 isoform 2

    See identical proteins and their annotated locations for NP_932094.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' exon and uses an alternate splice junction at the 5' end of an exon compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK290163, AL353621, BC092425
    Consensus CDS
    CCDS6755.1
    UniProtKB/Swiss-Prot
    O75820
    Related
    ENSP00000259395.4, ENST00000259395.4
    Conserved Domains (3) summary
    COG5048
    Location:96482
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:304324
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:513537
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_103480.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate splice junction at the 5' end of an exon and contains an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK290163, AL353621, BC092425, DB077406

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    101398830..101410660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717281.3XP_006717344.1  zinc finger protein 189 isoform X1

    See identical proteins and their annotated locations for XP_006717344.1

    UniProtKB/Swiss-Prot
    O75820
    Conserved Domains (3) summary
    COG5048
    Location:96482
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:304324
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:513537
    zf-H2C2_2; Zinc-finger double domain
  2. XM_006717280.4XP_006717343.1  zinc finger protein 189 isoform X1

    See identical proteins and their annotated locations for XP_006717343.1

    UniProtKB/Swiss-Prot
    O75820
    Conserved Domains (3) summary
    COG5048
    Location:96482
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:304324
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:513537
    zf-H2C2_2; Zinc-finger double domain
  3. XM_011518998.3XP_011517300.1  zinc finger protein 189 isoform X1

    See identical proteins and their annotated locations for XP_011517300.1

    UniProtKB/Swiss-Prot
    O75820
    Conserved Domains (3) summary
    COG5048
    Location:96482
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:304324
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:513537
    zf-H2C2_2; Zinc-finger double domain
  4. XM_017015121.1XP_016870610.1  zinc finger protein 189 isoform X1

    UniProtKB/Swiss-Prot
    O75820
    Conserved Domains (3) summary
    COG5048
    Location:96482
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:304324
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:513537
    zf-H2C2_2; Zinc-finger double domain
  5. XM_011518999.3XP_011517301.1  zinc finger protein 189 isoform X2

    See identical proteins and their annotated locations for XP_011517301.1

    Conserved Domains (3) summary
    COG5048
    Location:87473
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:295315
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:504528
    zf-H2C2_2; Zinc-finger double domain
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