TYW1B

protein-coding

tRNA-yW synthesizing protein 1 homolog B, the group of Radical S-adenosylmethionine domain containing

Gene summary

Wybutosine is a hypermodified guanosine found in phenylalanine tRNA. Wybutosine functions to stabilize codon-anticodon interactions during ribosome decoding and therefore supports the maintenance of the reading frame. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. The human genome contains two closely related genes that putatively function in wybutosine synthesis. The open reading frame of this locus is disrupted in some individuals. Thus, this locus appears to be an evolving pseudogene, but may still be functional in some members of the population. [provided by RefSeq, Apr 2014]

MANE transcript

NM_001145440.3

Inheritance

—

ClinVar variants

U:74B:3

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr7:72,558,744-72,828,200

External References & Databases

Ensembl (ENSG00000277149)

Transcript & Mutation Effects

hg38 • Region Span ~269.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TYW1B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 68

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001145440.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			72 clinvar	2 clinvar		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	74	3	0	77

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001145440.3	RefSeq	NP_001138912.2	14	MANE Select
ENST00000620995.5	Ensembl	ENSP00000482502.1	14	MANE Select
NM_001412179.1	RefSeq	NP_001399108.1	12	Standard
NM_001412180.1	RefSeq	NP_001399109.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

tRNA processing
oxidation-reduction process

Molecular Function

FMN binding
metal ion binding
4 iron, 4 sulfur cluster binding
tRNA-4-demethylwyosine synthase activity

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N- methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity). {ECO:0000250}.;