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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55135
Gene name	WD repeat containing antisense to TP53
Gene symbol	WRAP53
Synonyms (NCBI Gene)	DKCB3TCAB1WDR79
Chromosome	17
Chromosome location	17p13.1
Summary	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

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs116535684	G>A,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs281865548	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs281865549	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs281865550	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs968150359	G>A	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, 3 prime UTR variant
rs1597422298	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022742	hsa-miR-124-3p	Proteomics	18668037
MIRT038551	hsa-miR-106b-3p	CLASH	23622248
MIRT037886	hsa-miR-455-3p	CLASH	23622248
MIRT734576	hsa-miR-302a-3p	qRT-PCR	33123477

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IDA	19179534
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IPI	20351177
GO:0005515	Function	Protein binding	IPI	19179534, 21072240, 25467444, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005697	Component	Telomerase holoenzyme complex	IDA	19179534, 26170453, 29695869, 29804836
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007004	Process	Telomere maintenance via telomerase	IDA	29695869, 29804836
GO:0007004	Process	Telomere maintenance via telomerase	TAS	25467444
GO:0015030	Component	Cajal body	IBA
GO:0015030	Component	Cajal body	IDA	19179534, 19285445, 21072240, 22547674, 26170453
GO:0015030	Component	Cajal body	IEA
GO:0015030	Component	Cajal body	IMP	25467444
GO:0016604	Component	Nuclear body	IDA
GO:0030576	Process	Cajal body organization	IBA
GO:0030576	Process	Cajal body organization	IMP	21072240
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	25512560, 27715493
GO:0032203	Process	Telomere formation via telomerase	IMP	19179534
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IDA	23685356
GO:0034337	Process	RNA folding	IDA	29804836
GO:0035861	Component	Site of double-strand break	IDA	25512560, 26734725, 27715493
GO:0042393	Function	Histone binding	IPI	26734725, 27715493
GO:0042802	Function	Identical protein binding	IPI	21072240
GO:0044877	Function	Protein-containing complex binding	IDA	25467444
GO:0045739	Process	Positive regulation of DNA repair	IDA	25512560
GO:0051087	Function	Protein-folding chaperone binding	IPI	25467444
GO:0070034	Function	Telomerase RNA binding	IDA	22547674, 26170453, 29695869, 29804836
GO:0070034	Function	Telomerase RNA binding	IPI	20351177, 25467444
GO:0090666	Process	ScaRNA localization to Cajal body	IDA	19285445
GO:0090666	Process	ScaRNA localization to Cajal body	IMP	25467444
GO:0090671	Process	Telomerase RNA localization to Cajal body	IMP	25467444
GO:0140597	Function	Protein carrier chaperone	IMP	25467444
GO:0140691	Function	RNA folding chaperone	IDA	19179534, 29804836
GO:0140691	Function	RNA folding chaperone	IEA
GO:1904851	Process	Positive regulation of establishment of protein localization to telomere	IMP	25467444
GO:1904867	Process	Protein localization to Cajal body	IDA	22547674, 25467444
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	25512560
GO:2000781	Process	Positive regulation of double-strand break repair	IDA	27715493
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IDA	25512560

MIM	HGNC	e!Ensembl
612661	25522	ENSG00000141499

Q9BUR4

Protein name

Telomerase Cajal body protein 1 (WD repeat-containing protein 79) (WD40 repeat-containing protein antisense to TP53 gene) (WRAP53beta)

Protein function

RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (PubMed:29695869, PubMed:29804836). Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) a

PDB

7BGB , 7TRC , 7V9A , 8OUE , 8OUF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	263 → 304	WD domain, G-beta repeat	Repeat
PF00400	WD40	357 → 396	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues and cell lines examined. {ECO:0000269|PubMed:19250907}.

Sequence

MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAG
SAVSQELREGDPVSLSTPLETEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANG
PELGSGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGSWSEFSTQPENFLKGCKWAPD
GSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP
DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTV
RVFSTARPGRDCEVRATFAKKQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPL
ALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQSGYPLWSLGREVTTNQRIYFD
LDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS
GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGT
EGGVGELI

Sequence length

548

Interactions

View interactions

	Reactome
			Telomere Extension By Telomerase

193

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dyskeratosis congenita, autosomal recessive 3	Pathogenic; Likely pathogenic	rs281865549, rs281865547, rs1597422298	RCV000023967 RCV000034152 RCV000791190
Hereditary cancer-predisposing syndrome	Pathogenic	rs1206472792	RCV003445471

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs73248508	RCV005894709
Clear cell carcinoma of kidney	Benign; Likely benign	rs73248508	RCV005894710
Dyskeratosis congenita	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs1257126093, rs762717799, rs375718073, rs571153185, rs1255617679, rs774657140, rs80354016, rs375033488, rs776553040, rs554392556, rs35123152, rs567221089, rs565530006, rs752687945, rs759428765 View all (60 more)	RCV005513079 RCV004040254 RCV004038996 RCV002334873 RCV002388901 RCV005513183 RCV005515304 RCV004822971 RCV004043774 RCV004043990 RCV004822973 RCV004822972 RCV005298894 RCV004043787 RCV004043942 RCV003994357 RCV003303630 RCV005301019 RCV003167281 RCV004822945 RCV004042601 RCV005300996 RCV005513120 RCV004044485 RCV004042995 RCV002352712 RCV003355804 RCV004045850 RCV004045768 RCV003365687 RCV002361438 RCV002357921 RCV002382674 RCV002396190 RCV002374176 RCV002385503 RCV002422183 RCV002448187 RCV006307303 RCV004073275 RCV004073276 RCV003161850 RCV004823108 RCV004823106 RCV004137642 RCV004154490 RCV004178902 RCV002379080 RCV002392768 RCV002401960 RCV002392769 RCV004291381 RCV005771970 RCV004483176 RCV004524246 RCV004524247 RCV004524248 RCV002374554 RCV004021717 RCV002446585 RCV004686581 RCV004822034 RCV006302170 RCV002418337 RCV005781983 RCV004023409 RCV002422639 RCV004678860 RCV003169255 RCV002400006 RCV002372558 RCV002390916 RCV002400262 RCV004822332 RCV006302322 RCV006302318
Dyskeratosis Congenita, Recessive	Uncertain significance	rs770706285, rs1057516027	RCV000315520 RCV000312883
Gastric cancer	Benign; Likely benign	rs73248508	RCV005894711
Germ cell tumor of testis	Benign; Likely benign	rs17880740	RCV005894708
Hereditary cancer	Conflicting classifications of pathogenicity	rs200147473	RCV004699563
Lung cancer	Benign; Likely benign	rs73248508	RCV005894713
Malignant tumor of breast	Uncertain significance	rs968150359	RCV001005039
Melanoma	Benign; Likely benign	rs73248508	RCV005894712
WRAP53-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs149828392, rs143017192, rs751646242, rs533794855, rs140635900, rs2537661583, rs774374559, rs929724373, rs149359927, rs776832907, rs199901527, rs146651237, rs192994436	RCV003394082 RCV003893023 RCV003916354 RCV003958518 RCV003936592 RCV003393097 RCV003966594 RCV003951795 RCV003942461 RCV003392581 RCV004754632 RCV003933091 RCV003960537

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	28347242
Brain Diseases	Associate	30552426
Breast Neoplasms	Associate	23886136, 26460974, 31387111, 36975842
Carcinogenesis	Associate	28347242
Carcinoma Non Small Cell Lung	Associate	28406480, 36706151
Carcinoma Non Small Cell Lung	Stimulate	29516630
Chronic Disease	Associate	37299586
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	25467444
Congenital Bone Marrow Failure Syndromes	Associate	31664887
Death	Associate	36975842
Developmental Disabilities	Associate	30552426
Dyskeratosis Congenita	Associate	21602826, 29514627, 31664887, 36116037
Epileptic Encephalopathy Early Infantile 3	Associate	30552426
Esophageal Squamous Cell Carcinoma	Stimulate	24626331
Hoyeraal Hreidarsson syndrome	Associate	32303682
Lymphatic Metastasis	Stimulate	24626331
Muscular Atrophy Spinal	Associate	21072240
Neoplasm Metastasis	Associate	22805008
Neoplasms	Stimulate	22805008, 28347242
Neoplasms	Associate	23192612, 24626331, 25854392, 26460974, 36975842
Neoplasms	Inhibit	36239411
Neurodegenerative Diseases	Associate	25512560, 26460974
Osteosarcoma	Associate	22471498
Ovarian Neoplasms	Associate	23192612
Parkinson Disease	Stimulate	31051499
Rectal Neoplasms	Associate	22805008
Recurrence	Associate	36975842
Squamous Cell Carcinoma of Head and Neck	Associate	25854392

WRAP53 (WD repeat containing antisense to TP53)