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IFT74 intraflagellar transport 74 [ Homo sapiens (human) ]

Gene ID: 80173, updated on 17-Jun-2019

Summary

Official Symbol
IFT74provided by HGNC
Official Full Name
intraflagellar transport 74provided by HGNC
Primary source
HGNC:HGNC:21424
See related
Ensembl:ENSG00000096872 MIM:608040
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

Genomic context

See IFT74 in Genome Data Viewer
Location:
9p21.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 involved in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
ciliary tip TAS
Traceable Author Statement
more info
 
cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
 

General protein information

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)

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, ENST00000429045.6
    Conserved Domains (1) summary
    cl25732
    Location:101349
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_001349928.2NP_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_025103.4NP_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
    Q96LB3
    Related
    ENSP00000369402.5, ENST00000380062.9
    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

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 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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