CACTIN cactin, spliceosome C complex subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: CACTINprovided by HGNC
Official Full Name: cactin, spliceosome C complex subunitprovided by HGNC
Primary source: HGNC:HGNC:29938
See related: Ensembl:ENSG00000105298 MIM:618536; AllianceGenome:HGNC:29938
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: fSAPc; C19orf29; NY-REN-24
Summary: Enables RNA binding activity. Involved in several processes, including cellular response to cytokine stimulus; negative regulation of cytokine production; and negative regulation of signal transduction. Located in cytosol and nuclear speck. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in spleen (RPKM 5.5), testis (RPKM 4.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (3610645..3626790, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (3588768..3604917, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (3610643..3626788, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

cellular complexes comprising cactin, DHX8 and SRRM2 sustain precise chromosome segregation, genome stability and cell proliferation by allowing faithful splicing of specific pre-mRNAs.
Title: Human cactin interacts with DHX8 and SRRM2 to assure efficient pre-mRNA splicing and sister chromatid cohesion.
TRIM39 negatively regulates the NFkappaB signaling pathway possibly via stabilization of cactin.
Title: TRIM39 negatively regulates the NFκB-mediated signaling pathway through stabilization of Cactin.
results indicate that PKC-mediated cortactin phosphorylation might be implicated in the maintenance of growth cone
Title: Possible role of cortactin phosphorylation by protein kinase Cα in actin-bundle formation at growth cone.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

G20563 (e-PCR)
- UniSTS:35640

A005X06 (e-PCR)
- UniSTS:35641

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 cellular response to interleukin-1	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to tumor necrosis factor	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in mRNA cis splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of interferon-beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lipopolysaccharide-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of toll-like receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of type I interferon-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: splicing factor Cactin

Names: NY REN 24 antigen; functional spliceosome-associated protein c; renal carcinoma antigen NY-REN-24

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_001080543.2 → NP_001074012.1 splicing factor Cactin

See identical proteins and their annotated locations for NP_001074012.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC005175, AW027691, BF196424, CF272634, CN305928, CO248922

Consensus CDS

CCDS45920.1

UniProtKB/Swiss-Prot

A6NNA9, A9UL12, O75229, Q7LE08, Q8WUQ7, Q9BTA6, Q9Y5A4

Related

ENSP00000415078.1, ENST00000429344.7

Conserved Domains (3) summary

pfam09732
Location:634 → 758

CactinC_cactus; Cactus-binding C-terminus of cactin protein

pfam10312
Location:270 → 455

Cactin_mid; Conserved mid region of cactin

pfam14738
Location:213 → 304

PaaSYMP; Solute carrier (proton/amino acid symporter), TRAMD3 or PAT1
NM_021231.2 → NP_067054.1 splicing factor Cactin

See identical proteins and their annotated locations for NP_067054.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC005175, AW027691, BC019848, BF196424, CF272634, CN305928, CO248922

Consensus CDS

CCDS45920.1

UniProtKB/Swiss-Prot

A6NNA9, A9UL12, O75229, Q7LE08, Q8WUQ7, Q9BTA6, Q9Y5A4

Related

ENSP00000248420.5, ENST00000248420.9

Conserved Domains (3) summary

pfam09732
Location:634 → 758

CactinC_cactus; Cactus-binding C-terminus of cactin protein

pfam10312
Location:270 → 455

Cactin_mid; Conserved mid region of cactin

pfam14738
Location:213 → 304

PaaSYMP; Solute carrier (proton/amino acid symporter), TRAMD3 or PAT1

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

3610645..3626790 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528160.3 → XP_011526462.1 splicing factor Cactin isoform X1

Conserved Domains (1) summary

pfam10312
Location:270 → 452

Cactin_mid; Conserved mid region of cactin
XM_011528161.3 → XP_011526463.1 splicing factor Cactin isoform X2

Conserved Domains (1) summary

pfam10312
Location:270 → 384

Cactin_mid; Conserved mid region of cactin