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ZMAT5 zinc finger matrin-type 5 [ Homo sapiens (human) ]

Gene ID: 55954, updated on 5-Mar-2024

Summary

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Official Symbol
ZMAT5provided by HGNC
Official Full Name
zinc finger matrin-type 5provided by HGNC
Primary source
HGNC:HGNC:28046
See related
Ensembl:ENSG00000100319 MIM:619741; AllianceGenome:HGNC:28046
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
ZC3H19; SNRNP20; U11/U12-20K
Summary
Predicted to enable zinc ion binding activity. Predicted to be involved in RNA splicing. Located in nucleoplasm. Part of U12-type spliceosomal complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal (RPKM 7.7), lung (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
22q12.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29730956..29767007, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30194319..30230905, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30126945..30162996, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30009952-30010452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30026831-30027330 Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 4 Neighboring gene NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30084213-30084714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30084715-30085214 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:30085434-30085934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30087218-30087838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30087839-30088460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30088461-30089081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30101159-30101822 Neighboring gene MPRA-validated peak4478 silencer Neighboring gene CABP7 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30117301-30118091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30133259-30134112 Neighboring gene calcium binding protein 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30143413-30144160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30144161-30144906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30162231-30162880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30162881-30163530 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:30179115-30179288 Neighboring gene ubiquinol-cytochrome c reductase, complex III subunit X Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30194678-30195178 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30195179-30195679 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30196571-30197566 Neighboring gene activating signal cointegrator 1 complex subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18820 Neighboring gene Sharpr-MPRA regulatory region 3108

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. Search for chromosome rearrangements: new approaches toward discovery of novel translocations in head and neck squamous cell carcinoma. Wang VW, et al. Head Neck, 2013 Jun. PMID 22807096
  2. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. Will CL, et al. RNA, 2004 Jun. PMID 15146077, Free PMC Article
  3. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
  4. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Adams MD, et al. Nature, 1995 Sep 28. PMID 7566098
  5. Characterizing WW domain interactions of tumor suppressor WWOX reveals its association with multiprotein networks. Abu-Odeh M, et al. J Biol Chem, 2014 Mar 28. PMID 24550385, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 processing 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 nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
zinc finger matrin-type protein 5
Names
U11/U12 small nuclear ribonucleoprotein 20 kDa protein
U11/U12 snRNP 20 kDa protein
U11/U12 snRNP 20K
zinc finger CCCH-type containing 19

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_001003692.2 → NP_001003692.1  zinc finger matrin-type protein 5

    See identical proteins and their annotated locations for NP_001003692.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC004882, BC009717, BU598307
    Consensus CDS
    CCDS13868.1
    UniProtKB/Swiss-Prot
    A8K9F6, Q9UDW3
    Related
    ENSP00000344241.3, ENST00000344318.4
    Conserved Domains (2) summary
    cl22907
    Location:4 → 46
    zf-U1; U1 zinc finger
    pfam00642
    Location:55 → 76
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

  2. NM_001318129.2 → NP_001305058.1  zinc finger matrin-type protein 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    BC009717, BQ931527, DT217179
    Consensus CDS
    CCDS13868.1
    UniProtKB/Swiss-Prot
    A8K9F6, Q9UDW3
    Conserved Domains (2) summary
    cl22907
    Location:4 → 46
    zf-U1; U1 zinc finger
    pfam00642
    Location:55 → 76
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

  3. NM_019103.3 → NP_061976.1  zinc finger matrin-type protein 5

    See identical proteins and their annotated locations for NP_061976.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AA312132, AC004882, AL160311, BC009717, BG285784
    Consensus CDS
    CCDS13868.1
    UniProtKB/Swiss-Prot
    A8K9F6, Q9UDW3
    Conserved Domains (2) summary
    cl22907
    Location:4 → 46
    zf-U1; U1 zinc finger
    pfam00642
    Location:55 → 76
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

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
    29730956..29767007 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    30194319..30230905 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325795.1 → XP_054181770.1  zinc finger matrin-type protein 5 isoform X1

    UniProtKB/Swiss-Prot
    A8K9F6, Q9UDW3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UDW3.1 GenPept UniProtKB/Swiss-Prot:Q9UDW3

Gene LinkOut

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

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