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

Gene ID: 12589, updated on 11-Apr-2024

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
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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_000071.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700040P09 gene Neighboring gene predicted gene, 22965 Neighboring gene STIP1 homology and U-Box containing protein 1 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E10347 Neighboring gene predicted gene, 32988 Neighboring gene STARR-seq mESC enhancer starr_14292 Neighboring gene purinergic receptor P2X, ligand-gated ion channel, 7 Neighboring gene microRNA 8115

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

  1. NM_001358917.2NP_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:170547
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001358918.2NP_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:114491
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001358919.2NP_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:97474
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam18383
    Location:1053
    IFT81_CH; Intraflagellar transport 81 calponin homology domain
  4. NM_001421274.1NP_001408203.1  intraflagellar transport protein 81 homolog isoform b

    Status: VALIDATED

    Source sequence(s)
    AC113285, AC114632
  5. NM_001421275.1NP_001408204.1  intraflagellar transport protein 81 homolog isoform d

    Status: VALIDATED

    Source sequence(s)
    AC113285, AC114632
  6. NM_001421276.1NP_001408205.1  intraflagellar transport protein 81 homolog isoform c

    Status: VALIDATED

    Source sequence(s)
    AC113285, AC114632
  7. NM_001421277.1NP_001408206.1  intraflagellar transport protein 81 homolog isoform e

    Status: VALIDATED

    Source sequence(s)
    AC113285, AC114632
  8. NM_009879.5NP_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:170547
    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

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    122678328..122752614 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    COG1196
    Location:170547
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam18383
    Location:3126
    IFT81_CH; Intraflagellar transport 81 calponin homology domain