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IFT74 intraflagellar transport 74 [ Homo sapiens (human) ]

Gene ID: 80173, updated on 5-Jan-2022

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; 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
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Genomic context

See IFT74 in Genome Data Viewer
Location:
9p21.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (26947110..27066134)
105.20201022 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 RNA, 7SL, cytoplasmic 100, pseudogene Neighboring gene H3 histone pseudogene 31 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

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
enables beta-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
Component Evidence Code Pubs
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary tip TAS
Traceable Author Statement
more info
 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cilium TAS
Traceable Author Statement
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
part_of intraciliary transport particle B IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001099222.3NP_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_001099223.3NP_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
    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_001099224.3NP_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: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, ENST00000380062.10
    Conserved Domains (1) summary
    COG1196
    Location:123523
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    26947110..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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