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

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, Nov 2024]
Expression: Ubiquitous expression in lymph node (RPKM 16.6), spleen (RPKM 15.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results suggest that the RNA binding activity of Blom7alpha might be required for pre-mRNA splicing catalysis.
Title: Inhibition of pre-mRNA splicing by a synthetic Blom7α-interacting small RNA.
Blom7alpha is a novel heterogeneous nuclear ribonucleoprotein K homology domain protein involved in pre-mRNA splicing and interacting with the CDC5L-SNEV(Prp19-Pso4) complex.
Title: Blom7alpha is a novel heterogeneous nuclear ribonucleoprotein K homology domain protein involved in pre-mRNA splicing that interacts with SNEVPrp19-Pso4.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L18506 (e-PCR)
- UniSTS:54024

RH120477 (e-PCR)
- UniSTS:133642

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-34121 (e-PCR)
- UniSTS:76584

D8S2278 (e-PCR)
- UniSTS:473906

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-85823 (e-PCR)
- UniSTS:103828

MARC_9785-9786:996688607:1 (e-PCR)
- UniSTS:270000

RH17869 (e-PCR)
- UniSTS:49074

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

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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)

NM_014949.4 → NP_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:232 → 322

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 ...