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KHDC1 KH domain containing 1 [ Homo sapiens (human) ]

Gene ID: 80759, updated on 13-Mar-2020

Summary

Official Symbol
KHDC1provided by HGNC
Official Full Name
KH domain containing 1provided by HGNC
Primary source
HGNC:HGNC:21366
See related
Ensembl:ENSG00000135314 MIM:611688
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
NDG1; KHDC1L; C6orf147; C6orf148; bA257K9.4; Em:AC019205.8
Expression
Broad expression in brain (RPKM 1.7), thyroid (RPKM 1.1) and 23 other tissues See more
Orthologs

Genomic context

See KHDC1 in Genome Data Viewer
Location:
6q13
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (73241314..73310365, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (73951037..74019938, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene KH domain containing 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 4143 Neighboring gene KH domain containing 1 like Neighboring gene uncharacterized LOC112267961 Neighboring gene ribosomal protein SA pseudogene 41 Neighboring gene eukaryotic translation initiation factor 3 subunit E pseudogene 1 Neighboring gene syndecan binding protein 2 pseudogene 1 Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase 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

General gene information

Markers

Readthrough KHDC1

Included gene: KHDC1L

Homology

Clone Names

  • FLJ33665, MGC10818

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
KH homology domain-containing protein 1
Names
KH homology domain containing 1
Putative KHDC1-like protein

NCBI Reference Sequences (RefSeq)

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_001251874.2NP_001238803.1  KH homology domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001238803.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC019205, AL365232, BC022080
    Consensus CDS
    CCDS59027.1
    UniProtKB/Swiss-Prot
    Q4VXA5
    Related
    ENSP00000359411.3, ENST00000370384.7
    Conserved Domains (1) summary
    cd12795
    Location:67181
    FILIA_N_like; FILIA-N KH-like domain
  2. NM_030568.5NP_085045.3  KH homology domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_085045.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region, compared to variant 1. These differences causes translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL365232, BC022080, DA059235, DB473653
    Consensus CDS
    CCDS43480.1
    UniProtKB/Swiss-Prot
    Q4VXA5
    Related
    ENSP00000257765.5, ENST00000257765.9
    Conserved Domains (1) summary
    cd12795
    Location:1108
    FILIA_N_like; FILIA-N KH-like domain

RNA

  1. NR_027005.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks three alternate exons, contains three alternate exons and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI493466, AK090984, BM747426

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    73241314..73310365 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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