U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

C1orf216 chromosome 1 open reading frame 216 [ Homo sapiens (human) ]

Gene ID: 127703, updated on 29-Mar-2023

Summary

Official Symbol
C1orf216provided by HGNC
Official Full Name
chromosome 1 open reading frame 216provided by HGNC
Primary source
HGNC:HGNC:26800
See related
Ensembl:ENSG00000142686 AllianceGenome:HGNC:26800
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
Broad expression in brain (RPKM 27.7), testis (RPKM 6.2) and 22 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See C1orf216 in Genome Data Viewer
Location:
1p34.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (35713877..35718884, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (35576833..35581840, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36179478..36184485, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36156281-36156798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36156799-36157314 Neighboring gene Sharpr-MPRA regulatory region 7840 Neighboring gene Sharpr-MPRA regulatory region 10959 Neighboring gene claspin Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:36204140-36205339

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001348691.2NP_001335620.1  UPF0500 protein C1orf216

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK096303, AL354864, DC314927
    Consensus CDS
    CCDS395.1
    UniProtKB/Swiss-Prot
    Q8N8N6, Q8TAB5
    Conserved Domains (1) summary
    pfam15546
    Location:1228
    DUF4653; Domain of unknown function (DUF4653)
  2. NM_152374.2NP_689587.1  UPF0500 protein C1orf216

    See identical proteins and their annotated locations for NP_689587.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AK096303
    Consensus CDS
    CCDS395.1
    UniProtKB/Swiss-Prot
    Q8N8N6, Q8TAB5
    Related
    ENSP00000425166.1, ENST00000270815.5
    Conserved Domains (1) summary
    pfam15546
    Location:1228
    DUF4653; Domain of unknown function (DUF4653)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    35713877..35718884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    35576833..35581840 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)