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    YTHDC1 YTH N6-methyladenosine RNA binding protein C1 [ Homo sapiens (human) ]

    Gene ID: 91746, updated on 10-Dec-2024

    Summary

    Official Symbol
    YTHDC1provided by HGNC
    Official Full Name
    YTH N6-methyladenosine RNA binding protein C1provided by HGNC
    Primary source
    HGNC:HGNC:30626
    See related
    Ensembl:ENSG00000083896 MIM:617283; AllianceGenome:HGNC:30626
    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
    YT521; YT521-B
    Summary
    Enables N6-methyladenosine-containing RNA reader activity and RNA binding activity. Involved in gene expression and regulation of gene expression. Located in nuclear speck and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 22.7), ovary (RPKM 15.2) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See YTHDC1 in Genome Data Viewer
    Location:
    4q13.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (68310387..68350090, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (71751442..71791158, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (69176105..69215808, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase family 2 member B11 pseudogene Neighboring gene apolipoprotein O pseudogene 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:69215177-69215756 Neighboring gene uncharacterized LOC124900917 Neighboring gene metallothionein 2 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-04-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2019-04-24)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1966

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N6-methyladenosine-containing RNA reader activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables N6-methyladenosine-containing RNA reader activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in dosage compensation by inactivation of X chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA alternative polyadenylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA export from nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mRNA splice site recognition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in post-transcriptional regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in primary follicle stage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of alternative mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    YTH domain-containing protein 1
    Names
    YTH domain containing 1
    putative splicing factor YT521
    splicing factor YT521
    splicing factor YT521-B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001031732.4NP_001026902.1  YTH domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001026902.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC074378
      Consensus CDS
      CCDS33992.1
      UniProtKB/Swiss-Prot
      Q4W5Q3, Q7Z622, Q8TF35, Q96MU7
      Related
      ENSP00000339245.4, ENST00000344157.9
      Conserved Domains (1) summary
      pfam04146
      Location:355493
      YTH; YT521-B-like domain
    2. NM_001330698.2NP_001317627.1  YTH domain-containing protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is longer compared to isoform 1.
      Source sequence(s)
      AC074378
      Consensus CDS
      CCDS82929.1
      UniProtKB/TrEMBL
      J3QR07
      Related
      ENSP00000463982.1, ENST00000579690.5
      Conserved Domains (1) summary
      pfam04146
      Location:355492
      YTH; YT521-B-like domain
    3. NM_133370.4NP_588611.2  YTH domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_588611.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC074378
      Consensus CDS
      CCDS3522.2
      UniProtKB/Swiss-Prot
      Q96MU7
      Related
      ENSP00000347888.3, ENST00000355665.7
      Conserved Domains (1) summary
      pfam04146
      Location:337474
      YTH; YT521-B-like 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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      68310387..68350090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265708.4XP_005265765.1  YTH domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005265765.1

      Conserved Domains (1) summary
      pfam04146
      Location:337474
      YTH; YT521-B-like domain

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167250.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      4029..43732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328548.1XP_054184523.1  YTH domain-containing protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      71751442..71791158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351241.1XP_054207216.1  YTH domain-containing protein 1 isoform X1