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

Gene ID: 84267, updated on 22-Apr-2017
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; Vega:OTTHUMG00000020111
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
Orthologs
Location:
9q21.32
Exon count:
6
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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

  • 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 Jun 15 11:32:44 2016

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

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
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 

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  UPF0553 protein C9orf64 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, OTTHUMP00000021563, ENST00000314700.5, OTTHUMT00000052866
    Conserved Domains (1) summary
    pfam10343
    Location:1197
    Q_salvage; Potential Queuosine, Q, salvage protein family
  2. NM_032307.4NP_115683.3  UPF0553 protein C9orf64 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, OTTHUMP00000021562, ENST00000376344.7, OTTHUMT00000052865
    Conserved Domains (1) summary
    pfam10343
    Location:55338
    Q_salvage; Potential Queuosine, Q, salvage protein family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005252271.4XP_005252328.1  UPF0553 protein C9orf64 isoform X1

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

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    86699916..86718592 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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