KHDC1L KH domain containing 1 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: KHDC1Lprovided by HGNC
Official Full Name: KH domain containing 1 likeprovided by HGNC
Primary source: HGNC:HGNC:37274
See related: Ensembl:ENSG00000256980 AllianceGenome:HGNC:37274
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
Summary: Predicted to enable RNA binding activity and identical protein binding activity. Predicted to act upstream of or within positive regulation of cysteine-type endopeptidase activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis (RPKM 1.9), lung (RPKM 0.4) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 6q13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (73223544..73225496, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (74400206..74402158, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (73933267..73935219, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Upregulation of KHDC1L promotes the proliferation and inhibits apoptosis in head and neck squamous cell carcinoma.
Title: Upregulation of KHDC1L promotes the proliferation and inhibits apoptosis in head and neck squamous cell carcinoma.

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)

General gene information

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Markers

ECD04904 (e-PCR)
- UniSTS:285974

ECD04420 (e-PCR)
- UniSTS:285492

ECD02404 (e-PCR)
- UniSTS:283502

REN31928 (e-PCR)
- UniSTS:356728

ECD22280 (e-PCR)
- UniSTS:303268

REN31990 (e-PCR)
- UniSTS:356790

REN31991 (e-PCR)
- UniSTS:356791

REN31992 (e-PCR)
- UniSTS:356792

REN31993 (e-PCR)
- UniSTS:356793

REN31994 (e-PCR)
- UniSTS:356794

REN31995 (e-PCR)
- UniSTS:356795

REN31996 (e-PCR)
- UniSTS:356796

REN31997 (e-PCR)
- UniSTS:356797

REN31998 (e-PCR)
- UniSTS:356798

REN31999 (e-PCR)
- UniSTS:356799

REN32000 (e-PCR)
- UniSTS:356800

REN32001 (e-PCR)
- UniSTS:356801

REN32002 (e-PCR)
- UniSTS:356802

REN32003 (e-PCR)
- UniSTS:356803

REN32004 (e-PCR)
- UniSTS:356804

REN32005 (e-PCR)
- UniSTS:356805

REN32006 (e-PCR)
- UniSTS:356806

stSG625742 (e-PCR)
- UniSTS:456912

stSG625743 (e-PCR)
- UniSTS:456913

Readthrough LOC122539213

Readthrough gene: LOC122539213, Included gene: KHDC1, Included gene: C6orf147

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: putative KHDC1-like protein

Names: KH homology domain containing 1-like; RP11-257K9.7

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.