ZCRB1 zinc finger CCHC-type and RNA binding motif containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZCRB1provided by HGNC
Official Full Name: zinc finger CCHC-type and RNA binding motif containing 1provided by HGNC
Primary source: HGNC:HGNC:29620
See related: Ensembl:ENSG00000139168 MIM:610750; AllianceGenome:HGNC:29620
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MADP1; RBM36; MADP-1; SNRNP31; ZCCHC19
Summary: Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 32.6), brain (RPKM 19.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (42312086..42326094, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (42270020..42284029, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (42705888..42719896, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Using small interfering RNA against MADP1, defective viral RNA synthesis was observed in the knockdown cells, therefore indicating the importance of the protein in coronaviral RNA synthesis.
Title: Binding of the 5'-untranslated region of coronavirus RNA to zinc finger CCHC-type and RNA-binding motif 1 enhances viral replication and transcription.
The 5'-flanking region contains an enhancer core motif and binding sites for AP-1, AP-2, and LF-A1. ZCRB1 is characterized by an RNA-binding motif and a CCHC zinc finger motif.
Title: Isolation, expression, and characterization of the human ZCRB1 gene mapped to 12q12.

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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

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

SHGC-64084 (e-PCR)
- UniSTS:44330

STS-N26725 (e-PCR)
- UniSTS:64107

SHGC-64773 (e-PCR)
- UniSTS:95414

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
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA splicing	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of U12-type spliceosomal complex	IBA Inferred from Biological aspect of Ancestor more info
part_of U12-type spliceosomal complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: zinc finger CCHC-type and RNA-binding motif-containing protein 1

Names: U11/U12 small nuclear ribonucleoprotein 31 kDa protein; U11/U12 snRNP 31 kDa protein; U11/U12 snRNP 31K; U11/U12-31K; zinc finger CCHC-type and RNA binding motif 1

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_033114.4 → NP_149105.3 zinc finger CCHC-type and RNA-binding motif-containing protein 1

See identical proteins and their annotated locations for NP_149105.3

Status: REVIEWED

Source sequence(s)

AB062361, BC022543, BI666919

Consensus CDS

CCDS8740.1

UniProtKB/Swiss-Prot

Q6PJX0, Q8TBF4, Q96TA6

UniProtKB/TrEMBL

F8VXY6

Related

ENSP00000266529.3, ENST00000266529.8

Conserved Domains (2) summary

cd12393
Location:9 → 86

RRM_ZCRB1; RNA recognition motif in Zinc finger CCHC-type and RNA-binding motif-containing protein 1 (ZCRB1) and similar proteins

cl26705
Location:97 → 123

AIR1; Arginine methyltransferase-interacting protein, contains RING Zn-finger [Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

42312086..42326094 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017020124.2 → XP_016875613.1 zinc finger CCHC-type and RNA-binding motif-containing protein 1 isoform X1

UniProtKB/TrEMBL

G3V1V1

Related

ENSP00000504144.1, ENST00000676501.1

Conserved Domains (2) summary

PTZ00368
Location:56 → 82

PTZ00368; universal minicircle sequence binding protein (UMSBP); Provisional

cl17169
Location:1 → 43

RRM_SF; RNA recognition motif (RRM) superfamily