Ift81 intraflagellar transport 81 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ift81provided by MGI
Official Full Name: intraflagellar transport 81provided by MGI
Primary source: MGI:MGI:1098597
See related: Ensembl:ENSMUSG00000029469 AllianceGenome:MGI:1098597
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: Cdv1; Cdv-1; Cdv-1r
Summary: Predicted to enable tubulin binding activity. Acts upstream of or within spermatogenesis. Located in centrosome; sperm midpiece; and sperm principal piece. Part of intraciliary transport particle B. Human ortholog(s) of this gene implicated in short-rib thoracic dysplasia 19 with or without polydactyly. Orthologous to human IFT81 (intraflagellar transport 81). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E11.5 (RPKM 9.1), CNS E18 (RPKM 8.2) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 62.44 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (122678328..122752614, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (122540265..122614546, complement)

Chromosome 5 - NC_000071.7 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?

IFT81 plays an essential role during spermatogenesis by modulating the assembly and elongation of the sperm flagella.
Title: The essential role of intraflagellar transport protein IFT81 in male mice spermiogenesis and fertility.
Cdv-1R might be involved in the carnitine pathway in the epididimis
Title: Expression of Cdv-iR gene in mouse epididymis as revealed by in situ hybridization.
inconsistent expression levels of human CDV-1 and mouse Cdv-1 in heart implied that cardiac hypertrophy in human SCD might not be associated with the abnormal expression of CDV-1.
Title: Identification of human CDV-1R and mouse Cdv-1R, two novel proteins with putative signal peptides, especially highly expressed in testis and increased with the male sex maturation.

Submit: New GeneRIF Correction

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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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
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
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
involved_in intraciliary transport involved in cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in regulation of smoothened signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in sperm flagellum assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISO Inferred from Sequence Orthology 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 cytoplasm	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
located_in sperm midpiece	IDA Inferred from Direct Assay more info	PubMed
located_in sperm principal piece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: intraflagellar transport protein 81 homolog

Names: carnitine deficiency-associated gene expressed in ventricle 1; carnitine deficiency-associated protein expressed in ventricle 1; intraflagellar transport 81 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_001358917.2 → NP_001345846.1 intraflagellar transport protein 81 homolog isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC113285, AC114632

Consensus CDS

CCDS19650.1

UniProtKB/Swiss-Prot

O35594, Q8R4W2, Q9CSA1, Q9EQM1

Conserved Domains (1) summary

cl25732
Location:170 → 547

SMC_N; RecF/RecN/SMC N terminal domain
NM_001358918.2 → NP_001345847.1 intraflagellar transport protein 81 homolog isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.

Source sequence(s)

AC113285, AC114632

Conserved Domains (1) summary

cl25732
Location:114 → 491

SMC_N; RecF/RecN/SMC N terminal domain
NM_001358919.2 → NP_001345848.1 intraflagellar transport protein 81 homolog isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AC113285, AC114632

Conserved Domains (2) summary

COG1196
Location:97 → 474

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

pfam18383
Location:10 → 53

IFT81_CH; Intraflagellar transport 81 calponin homology domain
NM_001421274.1 → NP_001408203.1 intraflagellar transport protein 81 homolog isoform b

Status: VALIDATED

Source sequence(s)

AC113285, AC114632
NM_001421275.1 → NP_001408204.1 intraflagellar transport protein 81 homolog isoform d

Status: VALIDATED

Source sequence(s)

AC113285, AC114632
NM_001421276.1 → NP_001408205.1 intraflagellar transport protein 81 homolog isoform c

Status: VALIDATED

Source sequence(s)

AC113285, AC114632
NM_001421277.1 → NP_001408206.1 intraflagellar transport protein 81 homolog isoform e

Status: VALIDATED

Source sequence(s)

AC113285, AC114632
NM_009879.5 → NP_034009.2 intraflagellar transport protein 81 homolog isoform a

See identical proteins and their annotated locations for NP_034009.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC113285, AC114632

Consensus CDS

CCDS19650.1

UniProtKB/Swiss-Prot

O35594, Q8R4W2, Q9CSA1, Q9EQM1

Related

ENSMUSP00000031426.8, ENSMUST00000031426.14

Conserved Domains (1) summary

cl25732
Location:170 → 547

SMC_N; RecF/RecN/SMC N terminal domain

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_000071.7 Reference GRCm39 C57BL/6J

Range

122678328..122752614 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011248162.2 → XP_011246464.1 intraflagellar transport protein 81 homolog isoform X1

Conserved Domains (2) summary

COG1196
Location:170 → 547

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

pfam18383
Location:3 → 126

IFT81_CH; Intraflagellar transport 81 calponin homology domain