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

Gene ID: 100129128, updated on 5-Aug-2022

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 be involved in activation of cysteine-type endopeptidase activity involved in apoptotic process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 1.9), lung (RPKM 0.4) and 2 other tissues See more
Orthologs
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Genomic context

See KHDC1L in Genome Data Viewer
Location:
6q13
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (73223544..73225496, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (74400206..74402158, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (73933267..73935219, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily Q member 5 Neighboring gene RBPMS2 pseudogene 1 Neighboring gene KHDC1-KHDC1L Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:73933575-73934774 Neighboring gene KH domain containing 1 pseudogene 1 Neighboring gene RPSAP41-EIF3EP1 Neighboring gene KH domain containing 1 Neighboring gene ribosomal protein SA pseudogene 41 Neighboring gene EIF3E pseudogene 1

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

General gene information

Markers

Readthrough LOC122539213

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

Homology

Clone Names

  • FLJ30329

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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.

mRNA and Protein(s)

  1. NM_001126063.3NP_001119535.1  putative KHDC1-like protein

    See identical proteins and their annotated locations for NP_001119535.1

    Status: VALIDATED

    Source sequence(s)
    AL365232, BC004267
    Consensus CDS
    CCDS47450.1
    UniProtKB/Swiss-Prot
    E1P535, Q5JSQ8
    Related
    ENSP00000359415.3, ENST00000370388.4
    Conserved Domains (1) summary
    cd12795
    Location:1108
    FILIA_N_like; FILIA-N KH-like domain

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    73223544..73225496 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    74400206..74402158 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)