Ift57 intraflagellar transport 57 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ift57provided by MGI
Official Full Name: intraflagellar transport 57provided by MGI
Primary source: MGI:MGI:1921166
See related: Ensembl:ENSMUSG00000032965 AllianceGenome:MGI:1921166
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hippi; MHS4R2; Esrrbl1; 4833420A15Rik
Summary: Predicted to enable DNA binding activity. Acts upstream of or within several processes, including cilium assembly; epithelial tube morphogenesis; and negative regulation of keratinocyte proliferation. Located in several cellular components, including cytoskeleton; dendrite terminus; and photoreceptor connecting cilium. Part of intraciliary transport particle B. Is expressed in several structures, including central nervous system; embryo ectoderm; embryo mesoderm; limb bud; and node. Human ortholog(s) of this gene implicated in orofaciodigital syndrome XVIII. Orthologous to human IFT57 (intraflagellar transport 57). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in frontal lobe adult (RPKM 12.9), testis adult (RPKM 10.1) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 B5; 16 31.08 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (49519657..49585489)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (49699294..49765126)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

novel transcription regulatory mechanism of REST by HIPPI may contribute to the deregulation of transcription observed in the cell model of Huntington disease.
Title: Regulation of RE1 protein silencing transcription factor (REST) expression by HIP1 protein interactor (HIPPI).
These findings suggest that Rybp and Hippi may functionally interact in the apoptotic processes that accompany normal murine neural development.
Title: Rybp interacts with Hippi and enhances Hippi-mediated apoptosis.
Hip-1 and Hippi cooperate to induce neuronal apoptosis in a caspase-8-dependent manner.
Title: Hip, hip, hippi!
Results show that pro-apoptotic Hippi-Hip-1 heterodimers can recruit procaspase-8 into a complex of Hippi, Hip-1 and procaspase-8, and launch apoptosis through components of the 'extrinsic' cell-death pathway.
Title: Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi.
Sonic hedgehog (Shh) pathway is downregulated in the neural tube in the absence of Hippi, which results in failure to establish ventral neural cell fate.
Title: Hippi is essential for node cilia assembly and Sonic hedgehog signaling.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary anterograde transport	NAS Non-traceable Author Statement more info	PubMed
involved_in intraciliary transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intraciliary transport	IC Inferred by Curator more info	PubMed
acts_upstream_of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within left/right pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within regulation of apoptotic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info	PubMed
located_in ciliary base	ISO Inferred from Sequence Orthology more info
located_in ciliary base	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	NAS Non-traceable Author Statement more info	PubMed
located_in cilium	TAS Traceable Author Statement more info
located_in dendrite terminus	IDA Inferred from Direct Assay more info	PubMed
part_of intraciliary transport particle B	IBA Inferred from Biological aspect of Ancestor more info
part_of intraciliary transport particle B	IDA Inferred from Direct Assay more info	PubMed
part_of intraciliary transport particle B	ISO Inferred from Sequence Orthology more info
is_active_in microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor connecting cilium	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: intraflagellar transport protein 57 homolog

Names: HIP1-interacting protein; Vestrogen-related receptor beta like 1; estrogen-related receptor beta like 1; huntingtin-interacting protein-1 protein interactor; intraflagellar transport 57 homolog

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.