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    KHDC4 KH domain containing 4, pre-mRNA splicing factor [ Homo sapiens (human) ]

    Gene ID: 22889, updated on 28-Oct-2024

    Summary

    Official Symbol
    KHDC4provided by HGNC
    Official Full Name
    KH domain containing 4, pre-mRNA splicing factorprovided by HGNC
    Primary source
    HGNC:HGNC:29145
    See related
    Ensembl:ENSG00000132680 MIM:619370; AllianceGenome:HGNC:29145
    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
    BLOM7; KIAA0907; SNORA80EHG
    Summary
    Enables RNA binding activity. Involved in mRNA splice site recognition. Located in cytoplasm; nucleoplasm; and spliceosomal complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 16.6), spleen (RPKM 15.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See KHDC4 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155913045..155934413, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155051178..155072546, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155882836..155904204, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904686 Neighboring gene Ras like without CAAX 1 Neighboring gene small nucleolar RNA, H/ACA box 80E Neighboring gene small Cajal body-specific RNA 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:155903710-155904909 Neighboring gene uncharacterized LOC107985207 Neighboring gene Sharpr-MPRA regulatory region 2022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155911483-155911982 Neighboring gene relaxin family peptide/INSL5 receptor 4

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splice site recognition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    KH homology domain-containing protein 4
    Names
    brings lots of money 7
    pre-mRNA splicing factor protein KHDC4
    protein BLOM7

    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_014949.4NP_055764.2  KH homology domain-containing protein 4

      See identical proteins and their annotated locations for NP_055764.2

      Status: VALIDATED

      Source sequence(s)
      BC062637, BI560023
      Consensus CDS
      CCDS30885.1
      UniProtKB/Swiss-Prot
      O94981, Q7L7Q2, Q7Z7E9, Q7Z7F0, Q8TBQ0
      Related
      ENSP00000357304.3, ENST00000368321.8
      Conserved Domains (1) summary
      cl00098
      Location:232322
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155913045..155934413 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      155051178..155072546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)