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

Gene ID: 83638, updated on 21-Dec-2019

Summary

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
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
Expression
Ubiquitous expression in ovary (RPKM 21.4), testis (RPKM 21.1) and 25 other tissues See more
Orthologs

Genomic context

See C11orf68 in Genome Data Viewer
Location:
11q13.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65916810..65919062, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65684281..65686531, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr11.3338 Neighboring gene NFE2L2 motif-containing MPRA enhancer 146/147 Neighboring gene DR1 associated protein 1 Neighboring gene uncharacterized LOC105369349 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3343

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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

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_001135635.2NP_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:157254
    DUF1917; Domain of unknown function (DUF1917)
  2. NM_031450.4NP_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
    Q9H3H3
    Related
    ENSP00000409681.3, ENST00000449692.3
    Conserved Domains (1) summary
    pfam08939
    Location:156253
    DUF1917; Domain of unknown function (DUF1917)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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