IFT74 intraflagellar transport 74 [Homo sapiens (human)] - Gene

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; 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

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
Title: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
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.
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.
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.

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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	not available
Joubert syndrome 40 MedGen: C5562007 OMIM: 619582 GeneReviews: Not available	not available
Spermatogenic failure 58 MedGen: C5562008 OMIM: 619585 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-18307 (e-PCR)
- UniSTS:64105

STS-Z41378 (e-PCR)
- UniSTS:48279

D8S1398E (e-PCR)
- UniSTS:14788

G59807 (e-PCR)
- UniSTS:136956

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

NG_053083.1 RefSeqGene

Range

14423..124145

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]
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
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
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]