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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
    NEW
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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