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    INTS14 integrator complex subunit 14 [ Homo sapiens (human) ]

    Gene ID: 81556, updated on 27-Dec-2024

    Summary

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    Official Symbol
    INTS14provided by HGNC
    Official Full Name
    integrator complex subunit 14provided by HGNC
    Primary source
    HGNC:HGNC:25372
    See related
    Ensembl:ENSG00000138614 MIM:620878; AllianceGenome:HGNC:25372
    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
    VWA9; C15orf44
    Summary
    Predicted to be involved in snRNA 3'-end processing. Located in cytoplasm. Part of integrator complex. Is active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 12.8), testis (RPKM 11.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INTS14 in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (65578757..65611131, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (63388156..63420529, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65871095..65903469, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene 3-hydroxyacyl-CoA dehydratase 3 Neighboring gene RNA, U6 small nuclear 19, pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene NANOG hESC enhancer GRCh37_chr15:65871212-65871790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9602 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:65910767-65911352 Neighboring gene uncharacterized LOC102723464 Neighboring gene solute carrier family 24 member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6557 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:65943238-65943423 Neighboring gene DENN domain containing 4A Neighboring gene small nucleolar RNA, C/D box 13E

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. INTS10-INTS13-INTS14 form a functional module of Integrator that binds nucleic acids and the cleavage module. Sabath K, et al. Nat Commun, 2020 Jul 9. PMID 32647223, Free PMC Article
    2. The Human Integrator Complex Facilitates Transcriptional Elongation by Endonucleolytic Cleavage of Nascent Transcripts. Beckedorff F, et al. Cell Rep, 2020 Jul 21. PMID 32697989, Free PMC Article
    3. Structure of the catalytic core of the Integrator complex. Pfleiderer MM, et al. Mol Cell, 2021 Mar 18. PMID 33548203, Free PMC Article
    4. Cytoplasmic binding partners of the Integrator endonuclease INTS11 and its paralog CPSF73 are required for their nuclear function. Lin MH, et al. Mol Cell, 2024 Aug 8. PMID 39032490,
    5. Streamlined analysis schema for high-throughput identification of endogenous protein complexes. Malovannaya A, et al. Proc Natl Acad Sci U S A, 2010 Feb 9. PMID 20133760, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. INTS10-INTS13-INTS14 form a functional module of Integrator that binds nucleic acids and the cleavage module.
      Title: INTS10-INTS13-INTS14 form a functional module of Integrator that binds nucleic acids and the cleavage module.
    Submit: New GeneRIF Correction

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp564O1664

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription elongation by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in snRNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in snRNA processing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of integrator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of integrator complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    integrator complex subunit 14
    Names
    UPF0464 protein C15orf44
    von Willebrand factor A domain containing 9
    von Willebrand factor A domain-containing protein 9

    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_001136043.4 → NP_001129515.1  integrator complex subunit 14 isoform 1

      See identical proteins and their annotated locations for NP_001129515.1

      Status: VALIDATED

      Source sequence(s)
      AC027220
      Consensus CDS
      CCDS45283.1
      UniProtKB/TrEMBL
      B4DWZ3
      Related
      ENSP00000402898.2, ENST00000431261.6
      Conserved Domains (1) summary
      cl17190
      Location:286 → 410
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    2. NM_001207058.4 → NP_001193987.2  integrator complex subunit 14 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC027220
      Consensus CDS
      CCDS92021.1
      UniProtKB/TrEMBL
      B4DWZ3, H3BRY6
      Related
      ENSP00000456460.1, ENST00000569491.5
      Conserved Domains (1) summary
      cl17190
      Location:315 → 439
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    3. NM_001207059.4 → NP_001193988.2  integrator complex subunit 14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC027220
      Consensus CDS
      CCDS45283.1
      UniProtKB/TrEMBL
      B4DWZ3
      Related
      ENSP00000408429.3, ENST00000420799.7
      Conserved Domains (1) summary
      cl17190
      Location:286 → 410
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    4. NM_001366360.3 → NP_001353289.1  integrator complex subunit 14 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC027220
      Consensus CDS
      CCDS10211.1
      UniProtKB/Swiss-Prot
      B4DDI6, B4DVD5, Q49AH8, Q96HX5, Q96SY0, Q9H0S5
      UniProtKB/TrEMBL
      B4DWZ3
      Conserved Domains (2) summary
      pfam13519
      Location:3 → 114
      VWA_2; von Willebrand factor type A domain
      cl17190
      Location:365 → 489
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    5. NM_001366364.3 → NP_001353293.1  integrator complex subunit 14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC027220
      Consensus CDS
      CCDS45283.1
      UniProtKB/TrEMBL
      B4DWZ3
      Conserved Domains (1) summary
      cl17190
      Location:286 → 410
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    6. NM_001366365.3 → NP_001353294.1  integrator complex subunit 14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC027220
      Consensus CDS
      CCDS45283.1
      UniProtKB/TrEMBL
      B4DWZ3
      Conserved Domains (1) summary
      cl17190
      Location:286 → 410
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    7. NM_001394794.1 → NP_001381723.1  integrator complex subunit 14 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC027220
      Consensus CDS
      CCDS10211.1
      UniProtKB/Swiss-Prot
      B4DDI6, B4DVD5, Q49AH8, Q96HX5, Q96SY0, Q9H0S5
      UniProtKB/TrEMBL
      B4DWZ3
      Conserved Domains (2) summary
      pfam13519
      Location:3 → 114
      VWA_2; von Willebrand factor type A domain
      cl17190
      Location:365 → 489
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    8. NM_001394795.1 → NP_001381724.1  integrator complex subunit 14 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC027220
      Consensus CDS
      CCDS92022.1
      UniProtKB/TrEMBL
      B4DJL6, B4DWZ3
      Related
      ENSP00000457624.1, ENST00000567744.5
      Conserved Domains (2) summary
      pfam13519
      Location:39 → 150
      VWA_2; von Willebrand factor type A domain
      cl17190
      Location:401 → 525
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    9. NM_001394796.1 → NP_001381725.1  integrator complex subunit 14 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC027220
      Consensus CDS
      CCDS10211.1
      UniProtKB/Swiss-Prot
      B4DDI6, B4DVD5, Q49AH8, Q96HX5, Q96SY0, Q9H0S5
      UniProtKB/TrEMBL
      B4DWZ3
      Related
      ENSP00000326379.2, ENST00000313182.7
      Conserved Domains (2) summary
      pfam13519
      Location:3 → 114
      VWA_2; von Willebrand factor type A domain
      cl17190
      Location:365 → 489
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    10. NM_001394797.1 → NP_001381726.1  integrator complex subunit 14 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC027220
      Consensus CDS
      CCDS92020.1
      UniProtKB/TrEMBL
      B4DVT3, B4DWZ3
      Related
      ENSP00000396314.3, ENST00000442903.3
      Conserved Domains (2) summary
      pfam13519
      Location:3 → 74
      VWA_2; von Willebrand factor type A domain
      cl17190
      Location:329 → 453
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      65578757..65611131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      63388156..63420529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_030800.2: Suppressed sequence

      Description
      NM_030800.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SY0.2 GenPept UniProtKB/Swiss-Prot:Q96SY0

    Gene LinkOut

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

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