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C9orf64 chromosome 9 open reading frame 64 [ Homo sapiens (human) ]

Gene ID: 84267, updated on 5-Apr-2020

Summary

Official Symbol
C9orf64provided by HGNC
Official Full Name
chromosome 9 open reading frame 64provided by HGNC
Primary source
HGNC:HGNC:28144
See related
Ensembl:ENSG00000165118 MIM:611342
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 duodenum (RPKM 8.0), small intestine (RPKM 7.8) and 24 other tissues See more
Orthologs

Genomic context

See C9orf64 in Genome Data Viewer
Location:
9q21.32
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (83938311..83956986, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (86553226..86571665, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene G kinase anchoring protein 1 Neighboring gene uncharacterized LOC101927552 Neighboring gene kinesin family member 27 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene heterogeneous nuclear ribonucleoprotein K Neighboring gene microRNA 7-1 Neighboring gene RecQ mediated genome instability 1

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
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10999

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
tRNA modification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA-guanine transglycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 

General protein information

Preferred Names
queuosine salvage protein
Names
UPF0553 protein C9orf64

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_001317997.1NP_001304926.1  queuosine salvage protein isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK090882, AL354733, BC004407, BX116423
    Consensus CDS
    CCDS83381.1
    UniProtKB/Swiss-Prot
    Q5T6V5
    UniProtKB/TrEMBL
    Q5T6V7
    Related
    ENSP00000318375.1, ENST00000314700.5
    Conserved Domains (1) summary
    pfam10343
    Location:1200
    Q_salvage; Potential Queuosine, Q, salvage protein family
  2. NM_032307.5NP_115683.3  queuosine salvage protein isoform 1

    See identical proteins and their annotated locations for NP_115683.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL354733, BC004407, BG709062, BX116423
    Consensus CDS
    CCDS6666.2
    UniProtKB/Swiss-Prot
    Q5T6V5
    Related
    ENSP00000365522.3, ENST00000376344.8
    Conserved Domains (1) summary
    pfam10343
    Location:55338
    Q_salvage; Potential Queuosine, Q, salvage protein family

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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    83938311..83956986 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252271.4XP_005252328.1  queuosine salvage protein isoform X1

    Conserved Domains (1) summary
    pfam10343
    Location:55199
    Q_salvage; Potential Queuosine, Q, salvage protein family
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