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    IFT74 intraflagellar transport 74 [ Homo sapiens (human) ]

    Gene ID: 80173, updated on 3-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 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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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