Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	58509
Gene name	Cactin, spliceosome C complex subunit
Gene symbol	CACTIN
Synonyms (NCBI Gene)	C19orf29NY-REN-24fSAPc
Chromosome	19
Chromosome location	19p13.3

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043985	hsa-miR-378a-5p	CLASH	23622248

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IMP	28062851
GO:0001933	Process	Negative regulation of protein phosphorylation	IMP	20829348
GO:0002376	Process	Immune system process	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	20829348, 26363554, 32296183
GO:0005634	Component	Nucleus	IDA	15302935, 20829348, 28062851
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IBA
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0031665	Process	Negative regulation of lipopolysaccharide-mediated signaling pathway	IMP	20829348
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	20829348
GO:0032688	Process	Negative regulation of interferon-beta production	IMP	20829348
GO:0032717	Process	Negative regulation of interleukin-8 production	IDA	20829348
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IDA	20829348
GO:0034122	Process	Negative regulation of toll-like receptor signaling pathway	IDA	20829348
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	26363554
GO:0045087	Process	Innate immune response	IEA
GO:0045292	Process	MRNA cis splicing, via spliceosome	IBA
GO:0045824	Process	Negative regulation of innate immune response	IBA
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IMP	20829348
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0071222	Process	Cellular response to lipopolysaccharide	IDA	20829348
GO:0071347	Process	Cellular response to interleukin-1	IDA	20829348
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	20829348

MIM	HGNC	e!Ensembl
618536	29938	ENSG00000105298

Q8WUQ7

Protein name

Splicing factor Cactin (Renal carcinoma antigen NY-REN-24)

Protein function

Plays a role in pre-mRNA splicing by facilitating excision of a subset of introns (PubMed:28062851). Required for the splicing of CDCA5/Sororin, a regulator of sister chromatid cohesion (PubMed:28062851). Involved in the regulation of innate imm

PDB

6QDV , 7W5A , 7W5B , 8C6J , 9FMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10312	Cactin_mid	270 → 457	Conserved mid region of cactin	Family
PF09732	CactinC_cactus	634 → 758	Cactus-binding C-terminus of cactin protein	Domain

Sequence

MGRDTRSRSRSAGRRGRRRQSQSGSRSRSRSHGRRNRRRREDEGRRRRRRRSRERRSDSE
EERWQRSGMRSRSPPRPKWHSRDGSSQSDSGEEQSRGQWARRRRRARSWSPSSSASSSAS
PGRSQSPRAAAAALSQQQSLQERLRLREERKQQEELMKAFETPEEKRARRLAKKEAKERK
KREKMGWGEEYMGYTNTDNPFGDNNLLGTFIWNKALEKKGISHLEEKELKERNKRIQEDN
RLELQKVKQLRLEREREKAMREQELEMLQREKEAEHFKTWEEQEDNFHLQQAKLRSKIRI
RDGRAKPIDLLAKYISAEDDDLAVEMHEPYTFLNGLTVADMEDLLEDIQVYMELEQGKNA
DFWRDMTTITEDEISKLRKLEASGKGPGERREGVNASVSSDVQSVFKGKTYNQLQVIFQG
IEGKIRAGGPNLDMGYWESLLQQLRAHMARARLRERHQDVLRQKLYKLKQEQGVESEPLF
PILKQEPQSPSRSLEPEDAAPTPPGPSSEGGPAEAEVDGATPTEGDGDGDGEGEGEGEAV
LMEEDLIQQSLDDYDAGRYSPRLLTAHELPLDAHVLEPDEDLQRLQLSRQQLQVTGDASE
SAEDIFFRRAKEGMGQDEAQFSVEMPLTGKAYLWADKYRPRKPRFFNRVHTGFEWNKYNQ
THYDFDNPPPKIVQGYKFNIFYPDLIDKRSTPEYFLEACADNKDFAILRFHAGPPYEDIA
FKIVNREWEYSHRHGFRCQFANGIFQLWFHFKRYRYRR

Sequence length

758

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Stomach Neoplasms	Stomach neoplasms	Pubtator	34413861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	32756109	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CACTIN (cactin, spliceosome C complex subunit)