Ift74 intraflagellar transport 74 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ift74provided by MGI
Official Full Name: intraflagellar transport 74provided by MGI
Primary source: MGI:MGI:1914944
See related: Ensembl:ENSMUSG00000028576 AllianceGenome:MGI:1914944
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: Cmg1; Ccdc2; b2b796Clo; 1700029H06Rik
Summary: Enables chromatin binding activity. Acts upstream of or within several processes, including keratinocyte development; non-motile cilium assembly; and positive regulation of cell adhesion mediated by integrin. Located in centrosome; cilium; and nucleus. Part of intraciliary transport particle B. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and respiratory system. Used to study visceral heterotaxy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 22. Orthologous to human IFT74 (intraflagellar transport 74). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 8.8), CNS E11.5 (RPKM 7.9) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C5; 4 43.34 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (94491503..94581470)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (94603266..94693233)

Chromosome 4 - NC_000070.7 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: 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?

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Title: IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Intraflagellar transport protein 74 is essential for spermatogenesis and male fertility in micedagger.
Title: Intraflagellar transport protein 74 is essential for spermatogenesis and male fertility in mice†.
The CMG-1 serves as a transcriptional regulator of proliferation and adhesion-associated genes in early stage male germ-line cells in the testis.
Title: Novel role for the intraflagellar transport protein CMG-1 in regulating the transcription of cyclin-D2, E-cadherin and integrin-alpha family genes in mouse spermatocyte-derived cells.
Ift74 is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
Title: Tissue expression patterns identify mouse cilia genes.
Results identify a cDNA encoding the mouse ortholog of capillary morphogenesis gene (CMG)-1, and suggest that CMG-1 may play a role in the transcriptional regulation of the cyclin D2 gene.
Title: Capillary morphogenesis gene (CMG)-1 is among the genes differentially expressed in mouse male germ line stem cells and embryonic stem cells.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (4) 1 citation
Chemically induced (ENU) (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI314124 (e-PCR)
- UniSTS:159256

AW261791 (e-PCR)
- UniSTS:179031

RH125384 (e-PCR)
- UniSTS:162206

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-tubulin binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary anterograde transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within intraciliary transport	IC Inferred by Curator more info	PubMed
involved_in intraciliary transport involved in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in intraciliary transport involved in cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within keratinocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of epithelial cell proliferation	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 non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell adhesion mediated by integrin	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
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 cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
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
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: intraflagellar transport protein 74 homolog

Names: capillary morphogenesis gene 1 protein; capillary morphogenesis protein 1; coiled-coil domain-containing protein 2

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_001290568.1 → NP_001277497.1 intraflagellar transport protein 74 homolog isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several exons in the 3' region and contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK011690, AK053369, AL772277, BY237866

Consensus CDS

CCDS71420.1

UniProtKB/TrEMBL

B1AWG1, Q05DN8

Related

ENSMUSP00000102721.3, ENSMUST00000107104.3

Conserved Domains (1) summary

pfam05461
Location:273 → 333

ApoL; Apolipoprotein L
NM_026319.3 → NP_080595.2 intraflagellar transport protein 74 homolog isoform 1

See identical proteins and their annotated locations for NP_080595.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK053369, BY237866, BY706530, CD740935

Consensus CDS

CCDS51232.1

UniProtKB/Swiss-Prot

B1AWG2, Q80ZI3, Q8BKE9, Q9CSY1, Q9CUS0, Q9D9T5

Related

ENSMUSP00000030311.5, ENSMUST00000030311.11

Conserved Domains (1) summary

COG1196
Location:219 → 590

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

94491503..94581470

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164369.1 → XP_036020262.1 intraflagellar transport protein 74 homolog isoform X1

Conserved Domains (2) summary

COG1196
Location:219 → 535

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd21341
Location:7 → 63

TTC8_N; N-terminal domain of tetratricopeptide repeat domain 8
XM_030253727.2 → XP_030109587.1 intraflagellar transport protein 74 homolog isoform X3

UniProtKB/Swiss-Prot

B1AWG2, Q80ZI3, Q8BKE9, Q9CSY1, Q9CUS0, Q9D9T5

Conserved Domains (1) summary

COG1196
Location:219 → 590

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_006503324.5 → XP_006503387.1 intraflagellar transport protein 74 homolog isoform X3

See identical proteins and their annotated locations for XP_006503387.1

UniProtKB/Swiss-Prot

B1AWG2, Q80ZI3, Q8BKE9, Q9CSY1, Q9CUS0, Q9D9T5

Conserved Domains (1) summary

COG1196
Location:219 → 590

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_036164368.1 → XP_036020261.1 intraflagellar transport protein 74 homolog isoform X1

Conserved Domains (2) summary

COG1196
Location:219 → 535

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd21341
Location:7 → 63

TTC8_N; N-terminal domain of tetratricopeptide repeat domain 8
XM_036164367.1 → XP_036020260.1 intraflagellar transport protein 74 homolog isoform X1

Conserved Domains (2) summary

COG1196
Location:219 → 535

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd21341
Location:7 → 63

TTC8_N; N-terminal domain of tetratricopeptide repeat domain 8
XM_036164371.1 → XP_036020264.1 intraflagellar transport protein 74 homolog isoform X4

Conserved Domains (1) summary

COG1196
Location:193 → 509

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_036164373.1 → XP_036020266.1 intraflagellar transport protein 74 homolog isoform X6

Conserved Domains (1) summary

COG1196
Location:99 → 415

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_036164366.1 → XP_036020259.1 intraflagellar transport protein 74 homolog isoform X1

Conserved Domains (2) summary

COG1196
Location:219 → 535

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd21341
Location:7 → 63

TTC8_N; N-terminal domain of tetratricopeptide repeat domain 8
XM_036164372.1 → XP_036020265.1 intraflagellar transport protein 74 homolog isoform X6

Conserved Domains (1) summary

COG1196
Location:99 → 415

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_006503329.4 → XP_006503392.1 intraflagellar transport protein 74 homolog isoform X7

Conserved Domains (1) summary

COG1196
Location:99 → 470

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_006503328.5 → XP_006503391.1 intraflagellar transport protein 74 homolog isoform X5

Conserved Domains (1) summary

COG1196
Location:193 → 564

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_036164374.1 → XP_036020267.1 intraflagellar transport protein 74 homolog isoform X7

Conserved Domains (1) summary

COG1196
Location:99 → 470

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_036164370.1 → XP_036020263.1 intraflagellar transport protein 74 homolog isoform X2

Conserved Domains (1) summary

COG1196
Location:215 → 531

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]