• Gene id: 55135

Gene Summary

• Gene Symbol: WRAP53   Gene   UCSC   Ensembl
• Aliases: DKCB3, TCAB1, WDR79
• Gene name: WD repeat containing antisense to TP53
• Alternate names: telomerase Cajal body protein 1, WD repeat-containing protein 79, WD repeat-containing protein WRAP53, WD40 protein Wrap53, WD40 repeat-containing protein antisense to TP53, WD40 repeat-containing protein encoding RNA antisense to p53, WRAP53beta,
• Gene location: 17p13.1 (9669712: 9699552)     Exons: 6     NC_000012.12
• Gene summary(Entrez): This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase functio
• OMIM: 612661

SNPs

rs2287498

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7689242C>T
NC_000017.10   g.7592560C>T
NG_017013.2   g.3309G>A
NG_028245.1   g.8172C>T
NM_018081.2   c.450C>T
NM_001143991.2   c.450C>T
NM_001143991.1   c.450C>T
NM_001143992.2   c.450C>T
NM_001143992.1   c.450C>T
NM_001143990.1   c.450C>T
XR_001752551.  

Protein Summary

• Protein general information: Q9BUR4  
  • Name: Telomerase Cajal body protein 1 (WD repeat containing protein 79) (WD40 repeat containing protein antisense to TP53 gene) (WRAP53beta)
  • Length: 548  
  • Mass: 59309
  • Tissue specificity: Expressed in all tissues and cell lines examined. {ECO
• Sequence:

  MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSL
  STPLETEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGEPAAEDEGDTAWNYSF
  SQLPRFLSGSWSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDT
  IYDYCWYSLMSSAQPDTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTV
  RVFSTARPGRDCEVRATFAKKQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCF
  HPDGNRFFSGARKDAELLCWDLRQSGYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGK
  PEPVLSFLPQKDCTNGVSLHPSLPLLATASGQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDS
  SIPDDHQGEKGQGGTEGGVGELI

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50082 PS50294
  • DIP: 56796
  • STRING: ENSP00000324203
• Other Databases: GeneCards:  WRAP53  Malacards:  WRAP53

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030576	Cajal body organization	IBA	biological process
GO:0015030	Cajal body	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IDA	biological process
GO:1905168	positive regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:2000781	positive regulation of double-strand break repair	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0035861	site of double-strand break	IDA	cellular component
GO:0045739	positive regulation of DNA repair	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0090666	scaRNA localization to Cajal body	IDA	biological process
GO:0015030	Cajal body	IDA	cellular component
GO:0070034	telomerase RNA binding	IDA	molecular function
GO:1904867	protein localization to Cajal body	IDA	biological process
GO:0070034	telomerase RNA binding	IDA	molecular function
GO:0015030	Cajal body	IDA	cellular component
GO:0034337	RNA folding	IDA	biological process
GO:0051973	positive regulation of telomerase activity	IDA	biological process
GO:0070034	telomerase RNA binding	IDA	molecular function
GO:0070034	telomerase RNA binding	IDA	molecular function
GO:0042393	histone binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0042393	histone binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0030576	Cajal body organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051973	positive regulation of telomerase activity	IEA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0090666	scaRNA localization to Cajal body	IMP	biological process
GO:0090666	scaRNA localization to Cajal body	IMP	biological process
GO:0090666	scaRNA localization to Cajal body	IMP	biological process
GO:0051973	positive regulation of telomerase activity	IMP	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051973	positive regulation of telomerase activity	IDA	biological process
GO:0051087	chaperone binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0007004	telomere maintenance via telomerase	IMP	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0051973	positive regulation of telomerase activity	IMP	biological process
GO:1904851	positive regulation of establishment of protein localization to telomere	IMP	biological process
GO:0090671	telomerase RNA localization to Cajal body	HMP	biological process
GO:1904867	protein localization to Cajal body	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:0090671	telomerase RNA localization to Cajal body	IMP	biological process
GO:0015030	Cajal body	IMP	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0051973	positive regulation of telomerase activity	IDA	biological process
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0015030	Cajal body	IDA	cellular component
GO:0003723	RNA binding	IDA	molecular function
GO:0032203	telomere formation via telomerase	IMP	biological process

Diseases

Associated diseases	References
Dyskeratosis congenita	KEGG:H00507
Dyskeratosis congenita	KEGG:H00507
Breast cancer	PMID:26460974
Rectal neoplasm	PMID:22805008
Ovarian cancer	PMID:26426684
Ovarian cancer	PMID:23192612
Esophagus squamous cell carcinoma	PMID:24626331
lung non-small cell carcinoma	PMID:31281482
lung non-small cell carcinoma	PMID:30344734
lung adenocarcinoma	PMID:28347242
head and neck squamous cell carcinoma	PMID:25456005
head and neck squamous cell carcinoma	PMID:25070141
hepatocellular carcinoma	PMID:26551349
glottis squamous cell carcinoma	PMID:28849066
colorectal cancer	PMID:26013439
colorectal cancer	PMID:30175821
nasopharynx carcinoma	PMID:28607398
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881