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    RRP7A ribosomal RNA processing 7 homolog A [ Homo sapiens (human) ]

    Gene ID: 27341, updated on 7-Apr-2024

    Summary

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    Official Symbol
    RRP7Aprovided by HGNC
    Official Full Name
    ribosomal RNA processing 7 homolog Aprovided by HGNC
    Primary source
    HGNC:HGNC:24286
    See related
    Ensembl:ENSG00000189306 MIM:619449; AllianceGenome:HGNC:24286
    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
    Rrp7; CGI-96; MCPH28; BK126B4.3
    Summary
    Enables RNA binding activity. Predicted to be involved in rRNA processing and ribosomal small subunit assembly. Predicted to act upstream of or within blastocyst formation. Predicted to be located in nucleoplasm. Predicted to be part of CURI complex and UTP-C complex. Implicated in primary autosomal recessive microcephaly. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 9.4), lymph node (RPKM 9.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RRP7A in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42508344..42519796, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42989327..43000778, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42904350..42915802, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42834221-42834722 Neighboring gene uncharacterized LOC101927344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42836600-42837599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42840373-42841139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19167 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:42894685-42895205 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:42895291-42895792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13826 Neighboring gene uncharacterized LOC101927372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42900600-42901233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42904339-42905038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42905039-42905737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42909821-42910364 Neighboring gene serine hydrolase like (pseudogene) Neighboring gene uncharacterized LOC124900479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19168 Neighboring gene Sharpr-MPRA regulatory region 9885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42923851-42924598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42929412-42929912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42929913-42930413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42956436-42957120 Neighboring gene serine hydrolase like 2 Neighboring gene RN7SK pseudogene 80 Neighboring gene RNA, U6 small nuclear 513, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Serological identification and expression analysis of gastric cancer-associated genes. Linē A, et al. Br J Cancer, 2002 Jun 5. PMID 12087473, Free PMC Article
    2. RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis. Farooq M, et al. Nat Commun, 2020 Nov 16. PMID 33199730, Free PMC Article
    3. The ribosome biogenesis factor yUtp23/hUTP23 coordinates key interactions in the yeast and human pre-40S particle and hUTP23 contains an essential PIN domain. Wells GR, et al. Nucleic Acids Res, 2017 May 5. PMID 28082392, Free PMC Article
    4. Identification of UHRF1/2 as new N-methylpurine DNA glycosylase-interacting proteins. Liang C, et al. Biochem Biophys Res Commun, 2013 Apr 19. PMID 23537643
    5. Nucleolar maturation of the human small subunit processome. Singh S, et al. Science, 2021 Sep 10. PMID 34516797, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
      Title: RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Microcephaly 28, primary, autosomal recessive
    MedGen: C5562069 OMIM: 619453 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC150422, MGC150423

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blastocyst formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium disassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to nucleolus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in rRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ribosomal small subunit assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ribosome biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of CURI complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of UTP-C complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ribosomal RNA-processing protein 7 homolog A
    Names
    CTA-126B4.5
    gastric cancer antigen Zg14

    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_015703.5 → NP_056518.2  ribosomal RNA-processing protein 7 homolog A

      See identical proteins and their annotated locations for NP_056518.2

      Status: VALIDATED

      Source sequence(s)
      AL022316, BC073834
      Consensus CDS
      CCDS14036.1
      UniProtKB/Swiss-Prot
      A4FTX2, B2RBG4, Q0VAD0, Q5JZ94, Q6P4B5, Q8IVR9, Q8IVY0, Q8N5Q3, Q8NEY6, Q9Y3A4, Q9Y3H5
      Related
      ENSP00000321449.6, ENST00000323013.7
      Conserved Domains (2) summary
      cd12951
      Location:151 → 280
      RRP7_Rrp7A; RRP7 domain ribosomal RNA-processing protein 7 homolog A (Rrp7A) and similar proteins
      cd12294
      Location:59 → 159
      RRM_Rrp7A; RNA recognition motif in ribosomal RNA-processing protein 7 homolog A (Rrp7A) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      42508344..42519796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42989327..43000778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3A4.2 GenPept UniProtKB/Swiss-Prot:Q9Y3A4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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