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C12orf66 chromosome 12 open reading frame 66 [ Homo sapiens (human) ]

Gene ID: 144577, updated on 13-Mar-2020

Summary

Official Symbol
C12orf66provided by HGNC
Official Full Name
chromosome 12 open reading frame 66provided by HGNC
Primary source
HGNC:HGNC:26517
See related
Ensembl:ENSG00000174206 MIM:617420
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
Expression
Ubiquitous expression in thyroid (RPKM 2.7), spleen (RPKM 2.0) and 25 other tissues See more
Orthologs

Genomic context

See C12orf66 in Genome Data Viewer
Location:
12q14.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (64186312..64222296, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (64580098..64616076, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SLIT-ROBO Rho GTPase activating protein 1 Neighboring gene uncharacterized LOC105369801 Neighboring gene uncharacterized LOC105369798 Neighboring gene RNA, U6 small nuclear 1009, pseudogene Neighboring gene RNA, U5A small nuclear 7, pseudogene Neighboring gene chromosome 12 open reading frame 56 Neighboring gene ATPase H+ transporting V1 subunit E1 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

Phenotypes

NHGRI GWAS Catalog

Description
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32549

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cellular response to amino acid starvation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to amino acid starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to glucose starvation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to glucose starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
KICSTOR complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
KICSTOR complex IDA
Inferred from Direct Assay
more info
PubMed 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
KICSTOR complex protein C12orf66
Names
UPF0536 protein C12orf66

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_001300940.1NP_001287869.1  KICSTOR complex protein C12orf66 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC012158, AK129933, BC036246, DB313913
    Consensus CDS
    CCDS73490.1
    Related
    ENSP00000311486.8, ENST00000311915.12
    Conserved Domains (1) summary
    pfam09404
    Location:10444
    DUF2003; Eukaryotic protein of unknown function (DUF2003)
  2. NM_001300941.2NP_001287870.2  KICSTOR complex protein C12orf66 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and contains a 3' terminal exon that extends past a splice site that is used in variant 1. These differences result in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) shorter, and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC012158, KF459550
    Consensus CDS
    CCDS76574.1
    Related
    ENSP00000445481.1, ENST00000544871.1
  3. NM_152440.5NP_689653.4  KICSTOR complex protein C12orf66 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a 3' terminal exon that extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) shorter, and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC012158, KF459550
    Consensus CDS
    CCDS41803.1
    Related
    ENSP00000381132.3, ENST00000398055.7

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_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    64186312..64222296 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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