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

Summary

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. Involved in cilium disassembly; protein localization to nucleolus; and ribosome biogenesis. Located in centrosome; cilium; and nucleolus. Part of small-subunit processome. Implicated in primary autosomal recessive microcephaly. [provided by Alliance of Genome Resources, Nov 2024]
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

Location:: 22q13.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (42508344..42519796, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (42989327..43000778, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (42904350..42915802, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SERHL__5382 (e-PCR)
- UniSTS:463895

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

L17809 (e-PCR)
- UniSTS:39087

A008L30 (e-PCR)
- UniSTS:52427

WI-14068 (e-PCR)
- UniSTS:78295

WI-14105 (e-PCR)
- UniSTS:2780

STS-T78900 (e-PCR)
- UniSTS:48126

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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)

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