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NOPCHAP1 NOP protein chaperone 1 [ Homo sapiens (human) ]

Gene ID: 121053, updated on 19-Sep-2024

Summary

Official Symbol
NOPCHAP1provided by HGNC
Official Full Name
NOP protein chaperone 1provided by HGNC
Primary source
HGNC:HGNC:28628
See related
Ensembl:ENSG00000151131 AllianceGenome:HGNC:28628
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
DDSR1; C12orf45
Summary
Enables box C/D snoRNP complex binding activity. Involved in box C/D snoRNP assembly. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in appendix (RPKM 8.1), lymph node (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

See NOPCHAP1 in Genome Data Viewer
Location:
12q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (104986316..105017625)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (104947920..104979230)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (105380094..105411403)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 41 member 2 Neighboring gene Sharpr-MPRA regulatory region 12146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6937 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24038 Neighboring gene Sharpr-MPRA regulatory region 3023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4799 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4800 Neighboring gene uncharacterized LOC105369952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:105379748-105380260 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:105380261-105380771 Neighboring gene keratin 18 pseudogene 20 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:105392867-105393367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4802 Neighboring gene aldehyde dehydrogenase 1 family member L2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:105454275-105455474 Neighboring gene uncharacterized LOC124903005 Neighboring gene Sharpr-MPRA regulatory region 9297 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:105477079-105477879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4803 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:105486286-105486900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4804 Neighboring gene uncharacterized LOC414300

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

General gene information

Clone Names

  • MGC40397

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables box C/D methylation guide snoRNP complex binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables box C/D methylation guide snoRNP complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in box C/D snoRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in box C/D snoRNP assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
NOP protein chaperone 1
Names
DNA damage-sensitive RNA 1
uncharacterized protein C12orf45

NCBI Reference Sequences (RefSeq)

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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_152318.3NP_689531.2  NOP protein chaperone 1

    See identical proteins and their annotated locations for NP_689531.2

    Status: VALIDATED

    Source sequence(s)
    AC090051, BG829346
    Consensus CDS
    CCDS41825.1
    UniProtKB/Swiss-Prot
    Q8N5I9
    UniProtKB/TrEMBL
    A0A087WT30
    Related
    ENSP00000447057.1, ENST00000552951.7
    Conserved Domains (1) summary
    pfam15370
    Location:69117
    DUF4598; Domain of unknown function (DUF4598)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    104986316..105017625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    104947920..104979230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)