TIFAB TIFA inhibitor [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIFABprovided by HGNC
Official Full Name: TIFA inhibitorprovided by HGNC
Primary source: HGNC:HGNC:34024
See related: Ensembl:ENSG00000255833 MIM:612663; AllianceGenome:HGNC:34024
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
Summary: Predicted to enable deubiquitinase activator activity. Involved in several processes, including cochlea morphogenesis; cranial nerve development; and hard palate morphogenesis. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in lymph node (RPKM 4.5), appendix (RPKM 3.4) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (135444226..135452351, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (135971397..135979522, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (134779916..134788041, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TIFAB Regulates USP15-Mediated p53 Signaling during Stressed and Malignant Hematopoiesis.
Title: TIFAB Regulates USP15-Mediated p53 Signaling during Stressed and Malignant Hematopoiesis.
TIFA and TIFAB: FHA-domain proteins involved in inflammation, hematopoiesis, and disease.
Title: TIFA and TIFAB: FHA-domain proteins involved in inflammation, hematopoiesis, and disease.
TIFAB loss increases TRAF6 protein and the dynamic range of TLR4 signaling
Title: Loss of Tifab, a del(5q) MDS gene, alters hematopoiesis through derepression of Toll-like receptor-TRAF6 signaling.

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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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables deubiquitinase activator activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in auditory behavior	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cochlea development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cochlea morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in craniofacial suture morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in genitalia development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in genitalia morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in hard palate morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in inner ear development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in inner ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in learned vocalization behavior	IGI Inferred from Genetic Interaction more info	PubMed
involved_in lipopolysaccharide-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in mastication	IGI Inferred from Genetic Interaction more info	PubMed
involved_in myeloid cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of relaxation of muscle	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of saliva secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuromuscular process controlling balance	IGI Inferred from Genetic Interaction more info	PubMed
involved_in peristalsis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator	IEA Inferred from Electronic Annotation more info
involved_in regulation of muscle organ development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in thorax and anterior abdomen determination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in toll-like receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in trigeminal nerve development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in vestibulocochlear nerve formation	IGI Inferred from Genetic Interaction more info	PubMed

General protein information

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Preferred Names: TRAF-interacting protein with FHA domain-containing protein B

Names: TIFA-like protein; TIFA-related protein TIFAB; TRAF-interacting protein with forkhead-associated domain, family member B

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_001099221.2 → NP_001092691.1 TRAF-interacting protein with FHA domain-containing protein B

See identical proteins and their annotated locations for NP_001092691.1

Status: VALIDATED

Source sequence(s)

AB161513, AC022092, AK131088, BX119085

Consensus CDS

CCDS43365.1

UniProtKB/Swiss-Prot

Q5H8A9, Q6ZNK6

Related

ENSP00000440509.1, ENST00000537858.2

Conserved Domains (1) summary

cd00060
Location:31 → 117

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...