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

Gene ID: 22889, updated on 6-Sep-2022

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 selection. Located in cytoplasm and nucleoplasm. Colocalizes with spliceosomal complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 16.6), spleen (RPKM 15.4) and 25 other tissues See more
Orthologs
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Genomic context

See KHDC4 in Genome Data Viewer
Location:
1q22
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155913045..155934413, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155051178..155072546, complement)
105.20220307 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 U4 spliceosomal RNA 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 uncharacterized LOC107985207 Neighboring gene Sharpr-MPRA regulatory region 2022

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 selection 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
PubMed 
located_in nucleus 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)

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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_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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)