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C11orf68 chromosome 11 open reading frame 68 [ Homo sapiens (human) ]

Gene ID: 83638, updated on 5-Mar-2024

Summary

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Official Symbol
C11orf68provided by HGNC
Official Full Name
chromosome 11 open reading frame 68provided by HGNC
Primary source
HGNC:HGNC:28801
See related
Ensembl:ENSG00000175573 AllianceGenome:HGNC:28801
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
P5326; BLES03
Summary
Enables RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 21.4), testis (RPKM 21.1) and 25 other tissues See more
Orthologs
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Genomic context

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See C11orf68 in Genome Data Viewer
Location:
11q13.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65916810..65919062, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65909888..65912140, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65684281..65686533, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65661089-65661593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5021 Neighboring gene coiled-coil domain containing 85B Neighboring gene FOS like 1, AP-1 transcription factor subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65666730-65666957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3567 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5022 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:65682731-65683930 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:65685650-65686569 and GRCh37_chr11:65686570-65687490 Neighboring gene DR1 associated protein 1 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3343 Neighboring gene NANOG hESC enhancer GRCh37_chr11:65704708-65705232 Neighboring gene uncharacterized LOC105369350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65708489-65708988 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65708959-65709182 Neighboring gene testis specific 10 interacting protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Genome-wide search for eliminylating domains reveals novel function for BLES03-like proteins. Khater S, et al. Genome Biol Evol, 2014 Jul 24. PMID 25062915, Free PMC Article
  2. The structure at 2.5 A resolution of human basophilic leukemia-expressed protein BLES03. Bitto E, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2005 Sep 1. PMID 16511166, Free PMC Article
  3. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
  4. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181
  5. Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrPC) in Alzheimer's disease. Ulbrich S, et al. PLoS One, 2018. PMID 29791485, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
UPF0696 protein C11orf68
Names
basophilic leukemia expressed protein BLES03
basophilic leukemia-expressed protein Bles03
protein p5326

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_001135635.2 → NP_001129107.1  UPF0696 protein C11orf68 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP006287
    Consensus CDS
    CCDS44652.1
    UniProtKB/Swiss-Prot
    Q9H3H3
    Related
    ENSP00000398350.2, ENST00000438576.3
    Conserved Domains (1) summary
    pfam08939
    Location:157 → 254
    DUF1917; Domain of unknown function (DUF1917)

  2. NM_031450.4 → NP_113638.2  UPF0696 protein C11orf68 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the CDS, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
    Source sequence(s)
    AP006287
    Consensus CDS
    CCDS8122.2
    UniProtKB/Swiss-Prot
    J3KQG9, Q9BT13, Q9H3H3
    Related
    ENSP00000409681.3, ENST00000449692.3
    Conserved Domains (1) summary
    pfam08939
    Location:156 → 253
    DUF1917; Domain of unknown function (DUF1917)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    65916810..65919062 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65909888..65912140 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H3H3.3 GenPept UniProtKB/Swiss-Prot:Q9H3H3

Gene LinkOut

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