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KHDC3L KH domain containing 3 like, subcortical maternal complex member [ Homo sapiens (human) ]

Gene ID: 154288, updated on 25-Nov-2021

Summary

Official Symbol
KHDC3Lprovided by HGNC
Official Full Name
KH domain containing 3 like, subcortical maternal complex memberprovided by HGNC
Primary source
HGNC:HGNC:33699
See related
Ensembl:ENSG00000203908 MIM:611687
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ECAT1; HYDM2; C6orf221
Summary
The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See KHDC3L in Genome Data Viewer
Location:
6q13
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (73362658..73364171)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74072381..74073894)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 3 Neighboring gene developmental pluripotency associated 5 Neighboring gene oocyte expressed protein Neighboring gene ribosomal protein L39 pseudogene 3

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?

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in actin filament organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in establishment of organelle localization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of dendrite development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of double-strand break repair ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of double-strand break repair via homologous recombination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in replication fork processing ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in apical cortex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in centrosome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of protein-containing complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of subcortical maternal complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
KH domain-containing protein 3
Names
ES cell-associated transcript 1 protein
KHDC3-like protein

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.

Genomic

  1. NG_031942.1 RefSeqGene

    Range
    4982..6495
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017361.3NP_001017361.1  KH domain-containing protein 3

    See identical proteins and their annotated locations for NP_001017361.1

    Status: REVIEWED

    Source sequence(s)
    AB211062, AC019205, AI638315
    Consensus CDS
    CCDS34484.1
    UniProtKB/Swiss-Prot
    Q587J8
    Related
    ENSP00000359392.3, ENST00000370367.4
    Conserved Domains (1) summary
    cd12795
    Location:12118
    FILIA_N_like; FILIA-N KH-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    73362658..73364171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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