Iftap intraflagellar transport associated protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Iftapprovided by MGI
Official Full Name: intraflagellar transport associated proteinprovided by MGI
Primary source: MGI:MGI:1915420
See related: Ensembl:ENSMUSG00000027165 AllianceGenome:MGI:1915420
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: NWC; B230118H07Rik
Summary: Enables intraciliary transport particle A binding activity. Acts upstream of or within acrosome reaction and spermatogenesis. Located in 9+0 non-motile cilium and cytosol. Is expressed in cerebral cortex ventricular layer and retina. Orthologous to human IFTAP (intraflagellar transport associated protein). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis adult (RPKM 6.9), bladder adult (RPKM 6.6) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E2; 2 53.83 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (101391124..101459376, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (101560779..101629031, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NWC-devoid spermatogenesis produces functionally impaired sperm. Sperm of knockout males fail to successfully compete with control sperm. NWC knockout sperm had a reduced ability to fertilize cumulus-intact eggs.
Title: Lack of NWC protein (c11orf74 homolog) in murine spermatogenesis results in reduced sperm competitiveness and impaired ability to fertilize egg cells in vitro.
functional inactivation of NWC does not cause any gross developmental, physiological or reproductive abnormalities, and that under physiological conditions NWC may be involved in assembling and functioning of cilia
Title: Search for the Function of NWC, Third Gene Within RAG Locus: Generation and Characterization of NWC-Deficient Mice.
Ikaros, a lymphocyte-specific transcription factor, acts as a repressor of NWC promoter--thus identifying a new Ikaros target--but is insufficient for inducing methylation which depends on antisense transcription driven by RAG-2 promoter
Title: Ikaros and RAG-2-mediated antisense transcription are responsible for lymphocyte-specific inactivation of NWC promoter.
Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells
Title: Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells.
Careful analysis of the Rag2 intergenic region uncovered a second evolutionarily conserved Nwc promoter region from which a previously unknown Nwc transcript can be generated in nonlymphocytes of Nwctmpro1 and normal mice.
Title: Complexity of transcriptional regulation within the Rag locus: identification of a second Nwc promoter region within the Rag2 intron.
These results indicate that accessibility of NWC promoter and RAG promoters to trans-acting factors is regulated by different epigenetic mechanisms.
Title: Mechanism of lymphocyte-specific inactivation of RAG-2 intragenic promoter of NWC: implications for epigenetic control of RAG locus.
NWC is regulated in lymphocytes by RAG1 promoter, in all other cells by RAG2 intragenic promoter
Title: Identification of a third evolutionarily conserved gene within the RAG locus and its RAG1-dependent and -independent regulation.

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Variation

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Alleles

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

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC102178P1 (e-PCR)
- UniSTS:270080

PMC137757P1 (e-PCR)
- UniSTS:270853

RAG2 (e-PCR)
- UniSTS:266542

UniSTS:259651 (e-PCR)
- UniSTS:259651

Rag2 (e-PCR), detects polymorphism
- UniSTS:259651

PMC21337P1 (e-PCR)
- UniSTS:272038

PMC196132P1 (e-PCR)
- UniSTS:271798

Rag2 (e-PCR), detects polymorphism
- UniSTS:144320

Rag2 (e-PCR), detects polymorphism
- UniSTS:256451

NoName (e-PCR)
- UniSTS:234473

PMC150727P7 (e-PCR)
- UniSTS:271096

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables intraciliary transport particle A binding	IBA Inferred from Biological aspect of Ancestor more info
enables intraciliary transport particle A binding	IDA Inferred from Direct Assay more info	PubMed
enables intraciliary transport particle A binding	ISO Inferred from Sequence Orthology more info
enables intraciliary transport particle A binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in acrosome reaction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within acrosome reaction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in 9+0 non-motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in 9+0 non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: intraflagellar transport-associated protein

Names: protein C11orf74 homolog; uncharacterized protein C11orf74 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.

mRNA and Protein(s)

NM_001362687.2 → NP_001349616.1 intraflagellar transport-associated protein isoform 1

Status: VALIDATED

Source sequence(s)

AL929569

Consensus CDS

CCDS16461.1

UniProtKB/Swiss-Prot

A2AVN5, A2AVN6, Q8C2H0, Q8R186, Q9CQI4

Related

ENSMUSP00000087999.5, ENSMUST00000090513.11

Conserved Domains (1) summary

pfam17722
Location:1 → 234

DUF5567; Family of unknown function (DUF5567)
NM_001362688.2 → NP_001349617.1 intraflagellar transport-associated protein isoform 2

Status: VALIDATED

Source sequence(s)

AL929569

Consensus CDS

CCDS89525.1

UniProtKB/TrEMBL

I1E4Y3, Z4YK27

Related

ENSMUSP00000097274.3, ENSMUST00000099682.9

Conserved Domains (1) summary

pfam17722
Location:1 → 191

DUF5567; Family of unknown function (DUF5567)
NM_026592.5 → NP_080868.1 intraflagellar transport-associated protein isoform 1

See identical proteins and their annotated locations for NP_080868.1

Status: VALIDATED

Source sequence(s)

AL929569

Consensus CDS

CCDS16461.1

UniProtKB/Swiss-Prot

A2AVN5, A2AVN6, Q8C2H0, Q8R186, Q9CQI4

Related

ENSMUSP00000106862.4, ENSMUST00000111231.10

Conserved Domains (1) summary

pfam17722
Location:1 → 234

DUF5567; Family of unknown function (DUF5567)