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

Gene ID: 81556, updated on 14-Nov-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. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 12.8), testis (RPKM 11.6) and 25 other tissues See more
Orthologs
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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: 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. 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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