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IFT74 intraflagellar transport 74 [ Homo sapiens (human) ]

Gene ID: 80173, updated on 27-Nov-2024

Summary

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Official Symbol
IFT74provided by HGNC
Official Full Name
intraflagellar transport 74provided by HGNC
Primary source
HGNC:HGNC:21424
See related
Ensembl:ENSG00000096872 MIM:608040; AllianceGenome:HGNC:21424
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMG1; BBS22; CCDC2; CMG-1; JBTS40; SPGF58
Summary
This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]
Expression
Broad expression in testis (RPKM 6.8), thyroid (RPKM 3.2) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See IFT74 in Genome Data Viewer
Location:
9p21.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (26947110..27066134)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (26957713..27076715)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (26947108..27066132)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene caspase activity and apoptosis inhibitor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:26892199-26892778 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:26892779-26893358 Neighboring gene RNA, 7SL, cytoplasmic 100, pseudogene Neighboring gene H3 histone pseudogene 31 Neighboring gene MPRA-validated peak7213 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26936699-26937379 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26946315-26946990 Neighboring gene phospholipase A2 activating protein Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26946991-26947664 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:26955622-26956357 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:26956358-26957092 Neighboring gene Sharpr-MPRA regulatory region 4046 Neighboring gene IFT74 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:26975626-26976196 Neighboring gene leucine rich repeat containing 19 Neighboring gene Sharpr-MPRA regulatory region 6395 Neighboring gene MPRA-validated peak7214 silencer Neighboring gene uncharacterized LOC124902134 Neighboring gene TEK receptor tyrosine kinase Neighboring gene RNA, 5S ribosomal pseudogene 280

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Getting tubulin to the tip of the cilium: one IFT train, many different tubulin cargo-binding sites? Bhogaraju S, et al. Bioessays, 2014 May. PMID 24616010
  2. A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome. Lorès P, et al. Hum Genet, 2021 Jul. PMID 33689014
  3. Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. Mardy AH, et al. Clin Genet, 2021 Jul. PMID 33748949
  4. Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations. Fassad MR, et al. Hum Mol Genet, 2023 Oct 17. PMID 37555648, Free PMC Article
  5. Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Priya S, et al. Indian J Ophthalmol, 2016 Sep. PMID 27853007, Free PMC Article

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
    Title: Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
  2. 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.
  3. Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
    Title: Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
  4. Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.
    Title: Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.
  5. Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
    Title: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
  6. A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
    Title: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
  7. this study found that the two core intraflagellar transport proteins IFT74 and IFT81 form a tubulin-binding module and mapped the interaction to a calponin homology domain of IFT81 and a highly basic domain in IFT74.
    Title: Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.
  8. The results revealed that the common variations in IFT74 and GRN neither constitute strong ALS risk factors nor modify the age-at-onset.
    Title: Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Bardet-Biedl syndrome 22
MedGen: C5561936 OMIM: 617119 GeneReviews: Not available
Compare labs
Joubert syndrome 40
MedGen: C5562007 OMIM: 619582 GeneReviews: Not available
Compare labs
Spermatogenic failure 58
MedGen: C5562008 OMIM: 619585 GeneReviews: Not available
Compare labs

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22621, MGC111562

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables beta-tubulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
  
involved_in heart development IEA
Inferred from Electronic Annotation
more info
  
involved_in intraciliary anterograde transport NAS
Non-traceable Author Statement
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in keratinocyte development IEA
Inferred from Electronic Annotation
more info
  
involved_in keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cell adhesion mediated by integrin IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary tip TAS
Traceable Author Statement
more info
  
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cilium NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cilium TAS
Traceable Author Statement
more info
  
part_of intraciliary transport particle B IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of intraciliary transport particle B IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of intraciliary transport particle B ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

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 2
coiled-coil domain-containing protein 2
intraflagellar transport 74 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.

Genomic

  1. NG_053083.1 RefSeqGene

    Range
    14423..124145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001099222.3 → NP_001092692.1  intraflagellar transport protein 74 homolog isoform a

    See identical proteins and their annotated locations for NP_001092692.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
    Source sequence(s)
    AI699118, AI919195, AL355432, BC113524, BP224777, DB049275
    Consensus CDS
    CCDS43793.1
    UniProtKB/Swiss-Prot
    Q3B789, Q5VY34, Q6PGQ8, Q96LB3, Q9H643, Q9H8G7
    UniProtKB/TrEMBL
    A0PJM7
    Related
    ENSP00000404122.1, ENST00000443698.5
    Conserved Domains (1) summary
    COG1196
    Location:123 → 523
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  2. NM_001099223.3 → NP_001092693.1  intraflagellar transport protein 74 homolog isoform a

    See identical proteins and their annotated locations for NP_001092693.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
    Source sequence(s)
    AI699118, AI919195, AL355432, BC113524, DB451450
    Consensus CDS
    CCDS43793.1
    UniProtKB/Swiss-Prot
    Q3B789, Q5VY34, Q6PGQ8, Q96LB3, Q9H643, Q9H8G7
    UniProtKB/TrEMBL
    A0PJM7
    Related
    ENSP00000389224.1, ENST00000433700.5
    Conserved Domains (1) summary
    COG1196
    Location:123 → 523
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  3. NM_001099224.3 → NP_001092694.1  intraflagellar transport protein 74 homolog isoform b

    See identical proteins and their annotated locations for NP_001092694.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several exons in the 3' coding region, uses an alternate 3' terminal exon, and differs in the 3' UTR, compared to variant 1. The encoded isoform (b) has a shorter and distinct C-terminus, compared to isoform (a).
    Source sequence(s)
    BC107742, BG461464, DA617917
    Consensus CDS
    CCDS47955.1
    UniProtKB/Swiss-Prot
    Q96LB3
    Related
    ENSP00000393907.2, ENST00000429045.6
    Conserved Domains (1) summary
    cl25732
    Location:101 → 349
    SMC_N; RecF/RecN/SMC N terminal domain

  4. NM_001349928.2 → NP_001336857.1  intraflagellar transport protein 74 homolog isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region and differs in the 3' UTR, compared to variant 1. The encoded isoform (c) has a shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AI699118, AL355432, AL356133
    UniProtKB/TrEMBL
    A0PJM7
    Conserved Domains (1) summary
    cl25732
    Location:123 → 523
    SMC_N; RecF/RecN/SMC N terminal domain

  5. NM_025103.4 → NP_079379.2  intraflagellar transport protein 74 homolog isoform a

    See identical proteins and their annotated locations for NP_079379.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2, and 3 encode the same isoform (a).
    Source sequence(s)
    AI699118, AI919195, AL355432, AY040325, DA617917
    Consensus CDS
    CCDS43793.1
    UniProtKB/Swiss-Prot
    Q3B789, Q5VY34, Q6PGQ8, Q96LB3, Q9H643, Q9H8G7
    UniProtKB/TrEMBL
    A0PJM7
    Related
    ENSP00000369402.5, ENST00000380062.10
    Conserved Domains (1) summary
    COG1196
    Location:123 → 523
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    26947110..27066134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    26957713..27076715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96LB3.1 GenPept UniProtKB/Swiss-Prot:Q96LB3

Gene LinkOut

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