U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
ribosomal RNA-processing protein 7 homolog A
Names
CTA-126B4.5
gastric cancer antigen Zg14

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous