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ZNF343 zinc finger protein 343 [ Homo sapiens (human) ]

Gene ID: 79175, updated on 2-Nov-2024

Summary

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Official Symbol
ZNF343provided by HGNC
Official Full Name
zinc finger protein 343provided by HGNC
Primary source
HGNC:HGNC:16017
See related
Ensembl:ENSG00000088876 AllianceGenome:HGNC:16017
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
dJ734P14.5
Summary
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in endometrium (RPKM 3.1), ovary (RPKM 3.0) and 25 other tissues See more
Orthologs
all
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Genomic context

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See ZNF343 in Genome Data Viewer
Location:
20p13
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (2481817..2524999, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (2512210..2555388, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2462463..2505168, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene transglutaminase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17467 Neighboring gene small nucleolar RNA, C/D box 119 Neighboring gene small nuclear ribonucleoprotein polypeptides B and B1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:2480910-2482109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17469 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:2490387-2490982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12603 Neighboring gene uncharacterized LOC105372504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2538685-2539395 Neighboring gene transmembrane channel like 2 Neighboring gene uncharacterized LOC105372505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12604

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 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. Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics. Dong C, et al. J Lipid Res, 2011 Jul. PMID 21558551, Free PMC Article
  2. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
  3. Impact of cytosine methylation on DNA binding specificities of human transcription factors. Yin Y, et al. Science, 2017 May 5. PMID 28473536, Free PMC Article
  4. Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. Viard J, et al. Life Sci Alliance, 2022 Aug 1. PMID 35914814, Free PMC Article
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ39592, MGC10715, MGC20504

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
zinc finger protein 343

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.

mRNA and Protein(s)

  1. NM_001282495.1 → NP_001269424.1  zinc finger protein 343 isoform 1

    See identical proteins and their annotated locations for NP_001269424.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 and 7 encode the same isoform (1).
    Source sequence(s)
    AL049712, BC065009, BQ212757
    Consensus CDS
    CCDS13028.1
    UniProtKB/Swiss-Prot
    Q5JXU8, Q5JXU9, Q6P1L6, Q8N8F2, Q96EX8, Q96NA5, Q9BQB0
    Conserved Domains (6) summary
    smart00349
    Location:62 → 106
    KRAB; krueppel associated box
    COG5048
    Location:266 → 593
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:355 → 375
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:297 → 319
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:62 → 101
    KRAB; KRAB box
    pfam13465
    Location:396 → 420
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001282496.2 → NP_001269425.1  zinc finger protein 343 isoform 1

    See identical proteins and their annotated locations for NP_001269425.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 and 7 encode the same isoform (1).
    Source sequence(s)
    AL049650, AL133339
    Consensus CDS
    CCDS13028.1
    UniProtKB/Swiss-Prot
    Q5JXU8, Q5JXU9, Q6P1L6, Q8N8F2, Q96EX8, Q96NA5, Q9BQB0
    Conserved Domains (6) summary
    smart00349
    Location:62 → 106
    KRAB; krueppel associated box
    COG5048
    Location:266 → 593
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:355 → 375
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:297 → 319
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:62 → 101
    KRAB; KRAB box
    pfam13465
    Location:396 → 420
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001282497.2 → NP_001269426.1  zinc finger protein 343 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is longer, compared to isoform 1. Both variants 4 and 8 encode the same isoform (2).
    Source sequence(s)
    AL049650, AL133339
    Consensus CDS
    CCDS74693.1
    UniProtKB/TrEMBL
    A0A087WZQ2
    Related
    ENSP00000482819.1, ENST00000612935.4
    Conserved Domains (6) summary
    smart00349
    Location:62 → 102
    KRAB; krueppel associated box
    COG5048
    Location:307 → 634
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:396 → 416
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:618 → 640
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:62 → 101
    KRAB; KRAB box
    pfam13465
    Location:437 → 461
    zf-H2C2_2; Zinc-finger double domain

  4. NM_001282498.2 → NP_001269427.1  zinc finger protein 343 isoform 3

    See identical proteins and their annotated locations for NP_001269427.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AL049650, AL133339
    Consensus CDS
    CCDS74692.1
    UniProtKB/Swiss-Prot
    Q6P1L6
    Related
    ENSP00000483851.1, ENST00000617391.4
    Conserved Domains (4) summary
    COG5048
    Location:176 → 503
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:265 → 285
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:207 → 229
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:306 → 330
    zf-H2C2_2; Zinc-finger double domain

  5. NM_001282499.3 → NP_001269428.1  zinc finger protein 343 isoform 4

    See identical proteins and their annotated locations for NP_001269428.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks several exons and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (4) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC002897, DB061474
    Consensus CDS
    CCDS74694.1
    UniProtKB/TrEMBL
    A0A0A0MT63
    Related
    ENSP00000370652.1, ENST00000381253.5
    Conserved Domains (1) summary
    pfam01352
    Location:61 → 102
    KRAB; KRAB box

  6. NM_001321800.2 → NP_001308729.1  zinc finger protein 343 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: Variants 1-3 and 7 encode the same isoform (1).
    Source sequence(s)
    AL049650, AL133339
    Consensus CDS
    CCDS13028.1
    UniProtKB/Swiss-Prot
    Q5JXU8, Q5JXU9, Q6P1L6, Q8N8F2, Q96EX8, Q96NA5, Q9BQB0
    Conserved Domains (6) summary
    smart00349
    Location:62 → 106
    KRAB; krueppel associated box
    COG5048
    Location:266 → 593
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:355 → 375
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:297 → 319
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:62 → 101
    KRAB; KRAB box
    pfam13465
    Location:396 → 420
    zf-H2C2_2; Zinc-finger double domain

  7. NM_001321801.2 → NP_001308730.1  zinc finger protein 343 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: Both variants 4 and 8 encode the same isoform (2).
    Source sequence(s)
    AL049650, AL133339
    Consensus CDS
    CCDS74693.1
    UniProtKB/TrEMBL
    A0A087WZQ2
    Conserved Domains (6) summary
    smart00349
    Location:62 → 102
    KRAB; krueppel associated box
    COG5048
    Location:307 → 634
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:396 → 416
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:618 → 640
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:62 → 101
    KRAB; KRAB box
    pfam13465
    Location:437 → 461
    zf-H2C2_2; Zinc-finger double domain

  8. NM_001321802.2 → NP_001308731.1  zinc finger protein 343 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL049650, AL133339
    UniProtKB/Swiss-Prot
    Q6P1L6
    Conserved Domains (6) summary
    smart00349
    Location:62 → 102
    KRAB; krueppel associated box
    COG5048
    Location:306 → 633
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:395 → 415
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:617 → 639
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:62 → 101
    KRAB; KRAB box
    pfam13465
    Location:436 → 460
    zf-H2C2_2; Zinc-finger double domain

  9. NM_001321803.2 → NP_001308732.1  zinc finger protein 343 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL049650, AL133339
    UniProtKB/Swiss-Prot
    Q6P1L6
    Conserved Domains (6) summary
    smart00349
    Location:62 → 102
    KRAB; krueppel associated box
    COG5048
    Location:306 → 633
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:395 → 415
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:617 → 639
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:62 → 101
    KRAB; KRAB box
    pfam13465
    Location:436 → 460
    zf-H2C2_2; Zinc-finger double domain

  10. NM_001321805.2 → NP_001308734.1  zinc finger protein 343 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL049650, AL133339
    UniProtKB/Swiss-Prot
    Q6P1L6
    Conserved Domains (6) summary
    smart00349
    Location:62 → 106
    KRAB; krueppel associated box
    COG5048
    Location:265 → 592
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:354 → 374
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:296 → 318
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:62 → 101
    KRAB; KRAB box
    pfam13465
    Location:395 → 419
    zf-H2C2_2; Zinc-finger double domain

  11. NM_024325.6 → NP_077301.4  zinc finger protein 343 isoform 1

    See identical proteins and their annotated locations for NP_077301.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform (1). Variants 1-3 and 7 encode the same isoform (1).
    Source sequence(s)
    AL049650, AL133339
    Consensus CDS
    CCDS13028.1
    UniProtKB/Swiss-Prot
    Q5JXU8, Q5JXU9, Q6P1L6, Q8N8F2, Q96EX8, Q96NA5, Q9BQB0
    Related
    ENSP00000278772.4, ENST00000278772.9
    Conserved Domains (6) summary
    smart00349
    Location:62 → 106
    KRAB; krueppel associated box
    COG5048
    Location:266 → 593
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:355 → 375
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:297 → 319
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:62 → 101
    KRAB; KRAB box
    pfam13465
    Location:396 → 420
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    2481817..2524999 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440476.1 → XP_047296432.1  zinc finger protein 343 isoform X3

    UniProtKB/Swiss-Prot
    Q5JXU8, Q5JXU9, Q6P1L6, Q8N8F2, Q96EX8, Q96NA5, Q9BQB0

  2. XM_047440474.1 → XP_047296430.1  zinc finger protein 343 isoform X1

  3. XM_047440480.1 → XP_047296436.1  zinc finger protein 343 isoform X6

  4. XM_047440478.1 → XP_047296434.1  zinc finger protein 343 isoform X5

  5. XM_047440475.1 → XP_047296431.1  zinc finger protein 343 isoform X2

  6. XM_047440477.1 → XP_047296433.1  zinc finger protein 343 isoform X4

  7. XM_047440479.1 → XP_047296435.1  zinc finger protein 343 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    2512210..2555388 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323987.1 → XP_054179962.1  zinc finger protein 343 isoform X3

    UniProtKB/Swiss-Prot
    Q5JXU8, Q5JXU9, Q6P1L6, Q8N8F2, Q96EX8, Q96NA5, Q9BQB0

  2. XM_054323985.1 → XP_054179960.1  zinc finger protein 343 isoform X1

  3. XM_054323991.1 → XP_054179966.1  zinc finger protein 343 isoform X6

  4. XM_054323989.1 → XP_054179964.1  zinc finger protein 343 isoform X5

  5. XM_054323986.1 → XP_054179961.1  zinc finger protein 343 isoform X2

  6. XM_054323988.1 → XP_054179963.1  zinc finger protein 343 isoform X4

  7. XM_054323990.1 → XP_054179965.1  zinc finger protein 343 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P1L6.1 GenPept UniProtKB/Swiss-Prot:Q6P1L6

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