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    IFT74 intraflagellar transport 74 [ Homo sapiens (human) ]

    Gene ID: 80173, updated on 8-Apr-2018
    Official Symbol
    IFT74provided by HGNC
    Official Full Name
    intraflagellar transport 74provided by HGNC
    Primary source
    HGNC:HGNC:21424
    See related
    Ensembl:ENSG00000096872 MIM:608040; Vega:OTTHUMG00000021028
    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; BBS20; CCDC2; CMG-1
    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
    Location:
    9p21.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (26946990..27066134)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (26947037..27062931)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene caspase activity and apoptosis inhibitor 1 Neighboring gene RNA, 7SL, cytoplasmic 100, pseudogene Neighboring gene phospholipase A2 activating protein Neighboring gene IFT74 antisense RNA 1 Neighboring gene leucine rich repeat containing 19 Neighboring gene TEK receptor tyrosine kinase Neighboring gene RNA, 5S ribosomal pseudogene 280 Neighboring gene ribosomal protein L36a pseudogene 34

    • 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 Jun 15 11:32:44 2016
    • Cilium Assembly, organism-specific biosystem (from REACTOME)
      Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
    • Intraflagellar transport, organism-specific biosystem (from REACTOME)
      Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22621, MGC111562

    Gene Ontology Provided by GOA

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

    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
      14356..124145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001099222.2NP_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
      Q96LB3
      Related
      ENSP00000404122.1, ENST00000443698.5
      Conserved Domains (1) summary
      COG1196
      Location:123523
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    2. NM_001099223.2NP_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, HY000419
      Consensus CDS
      CCDS43793.1
      UniProtKB/Swiss-Prot
      Q96LB3
      Related
      ENSP00000389224.1, ENST00000433700.5
      Conserved Domains (1) summary
      COG1196
      Location:123523
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    3. NM_001099224.2NP_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)
      AL356133, BC107742, BG461464, DA617917
      Consensus CDS
      CCDS47955.1
      UniProtKB/Swiss-Prot
      Q96LB3
      Related
      ENSP00000393907.2, OTTHUMP00000226593, ENST00000429045.6, OTTHUMT00000378557
      Conserved Domains (1) summary
      cl25732
      Location:101349
      SMC_N; RecF/RecN/SMC N terminal domain
    4. NM_001349928.1NP_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
      Conserved Domains (1) summary
      cl25732
      Location:123523
      SMC_N; RecF/RecN/SMC N terminal domain
    5. NM_025103.3NP_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, AL356133, AY040325, DA617917
      Consensus CDS
      CCDS43793.1
      UniProtKB/Swiss-Prot
      Q96LB3
      Related
      ENSP00000369402.5, OTTHUMP00000022772, ENST00000380062.9, OTTHUMT00000055476
      Conserved Domains (1) summary
      COG1196
      Location:123523
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      26946990..27066134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518036.2XP_011516338.1  intraflagellar transport protein 74 homolog isoform X1

      Conserved Domains (1) summary
      COG1196
      Location:13376
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    2. XM_017015164.1XP_016870653.1  intraflagellar transport protein 74 homolog isoform X2

    3. XM_017015163.1XP_016870652.1  intraflagellar transport protein 74 homolog isoform X1

      Conserved Domains (1) summary
      COG1196
      Location:13376
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
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