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IFTAP intraflagellar transport associated protein [ Homo sapiens (human) ]

Gene ID: 119710, updated on 3-Apr-2024

Summary

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Official Symbol
IFTAPprovided by HGNC
Official Full Name
intraflagellar transport associated proteinprovided by HGNC
Primary source
HGNC:HGNC:25142
See related
Ensembl:ENSG00000166352 MIM:619270; AllianceGenome:HGNC:25142
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
NWC; HEPIS; C11orf74
Summary
This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Expression
Broad expression in thyroid (RPKM 26.2), testis (RPKM 16.8) and 22 other tissues See more
Orthologs
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Genomic context

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See IFTAP in Genome Data Viewer
Location:
11p12
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (36594502..36659272)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (36737675..36802458)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (36616052..36680822)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:36522348-36523547 Neighboring gene TNF receptor associated factor 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4633 Neighboring gene recombination activating 1 Neighboring gene NANOG hESC enhancer GRCh37_chr11:36603130-36603633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4634 Neighboring gene recombination activating 2 Neighboring gene uncharacterized LOC107984325 Neighboring gene transforming acidic coiled-coil containing protein 3 pseudogene

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
  • 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. Search for the Function of NWC, Third Gene Within RAG Locus: Generation and Characterization of NWC-Deficient Mice. Kasztura M, et al. Arch Immunol Ther Exp (Warsz), 2016 Aug. PMID 26703212, Free PMC Article
  2. Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk. Nan H, et al. Hum Mol Genet, 2011 Jul 1. PMID 21478494, Free PMC Article
  3. Identification of a novel transcriptional repressor (HEPIS) that interacts with nsp-10 of SARS coronavirus. Hong M, et al. Viral Immunol, 2008 Jun. PMID 18433331
  4. Identification of a third evolutionarily conserved gene within the RAG locus and its RAG1-dependent and -independent regulation. Cebrat M, et al. Eur J Immunol, 2005 Jul. PMID 15971274
  5. C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization. Takahara M, et al. J Biochem, 2019 Mar 1. PMID 30476139

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The C11ORF74, interacts with the IFT-A complex via the IFT122 subunit and is accumulated at the distal tip in the absence of an IFT-A subunit IFT139, suggesting that at least a fraction of C11ORF74 molecules can be transported towards the ciliary tip by associating with the IFT-A complex, although its majority might be out of cilia at steady state.
    Title: C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization.
  2. identification of HEPIS as a protein that binds nsp10 of SARS-CoV
    Title: The interaction of the SARS coronavirus non-structural protein 10 with the cellular oxido-reductase system causes an extensive cytopathic effect.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
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

EBI GWAS Catalog

Description
Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ38678

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables intraciliary transport particle A binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables intraciliary transport particle A binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in acrosome reaction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in 9+0 non-motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
intraflagellar transport-associated protein
Names
protein C11orf74
uncharacterized protein C11orf74

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_033154.1 RefSeqGene

    Range
    5010..69780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276722.2 → NP_001263651.1  intraflagellar transport-associated protein isoform a

    See identical proteins and their annotated locations for NP_001263651.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, 3, and 4 encode the same isoform (a).
    Source sequence(s)
    AC139427, BC051031, BM670168, CD678640
    Consensus CDS
    CCDS7904.1
    UniProtKB/Swiss-Prot
    D3DR18, Q86VG3, Q96DD6
    UniProtKB/TrEMBL
    A8K468
    Related
    ENSP00000403937.3, ENST00000446510.6
    Conserved Domains (1) summary
    pfam17722
    Location:1 → 209
    DUF5567; Family of unknown function (DUF5567)

  2. NM_001276723.2 → NP_001263652.1  intraflagellar transport-associated protein isoform a

    See identical proteins and their annotated locations for NP_001263652.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a).
    Source sequence(s)
    AC139427, BM670168, CD101968
    Consensus CDS
    CCDS7904.1
    UniProtKB/Swiss-Prot
    D3DR18, Q86VG3, Q96DD6
    UniProtKB/TrEMBL
    A8K468
    Related
    ENSP00000433407.2, ENST00000531554.6
    Conserved Domains (1) summary
    pfam17722
    Location:1 → 209
    DUF5567; Family of unknown function (DUF5567)

  3. NM_001276724.2 → NP_001263653.1  intraflagellar transport-associated protein isoform a

    See identical proteins and their annotated locations for NP_001263653.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a).
    Source sequence(s)
    AC139427, BC051031, BI831382, BM670168, HY051439
    Consensus CDS
    CCDS7904.1
    UniProtKB/Swiss-Prot
    D3DR18, Q86VG3, Q96DD6
    UniProtKB/TrEMBL
    A8K468
    Related
    ENSP00000483671.1, ENST00000617650.5
    Conserved Domains (1) summary
    pfam17722
    Location:1 → 209
    DUF5567; Family of unknown function (DUF5567)

  4. NM_001276725.2 → NP_001263654.1  intraflagellar transport-associated protein isoform b

    See identical proteins and their annotated locations for NP_001263654.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two in-frame exons, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 5, 6, and 7 encode the same isoform (b).
    Source sequence(s)
    AC139427, BM670168, BQ018679
    Consensus CDS
    CCDS60762.1
    UniProtKB/Swiss-Prot
    Q86VG3
    Related
    ENSP00000433152.1, ENST00000534635.5
    Conserved Domains (1) summary
    pfam17722
    Location:1 → 135
    DUF5567; Family of unknown function (DUF5567)

  5. NM_001276726.2 → NP_001263655.1  intraflagellar transport-associated protein isoform b

    See identical proteins and their annotated locations for NP_001263655.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in the 5' UTR and lacks two in-frame exons, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 5, 6, and 7 encode the same isoform (b).
    Source sequence(s)
    AC139427, BM670168, CD674194
    Consensus CDS
    CCDS60762.1
    UniProtKB/Swiss-Prot
    Q86VG3
    Related
    ENSP00000435676.2, ENST00000527108.6
    Conserved Domains (1) summary
    pfam17722
    Location:1 → 135
    DUF5567; Family of unknown function (DUF5567)

  6. NM_001276727.2 → NP_001263656.1  intraflagellar transport-associated protein isoform b

    See identical proteins and their annotated locations for NP_001263656.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate splice site in the 5' UTR and lacks two in-frame exons, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 5, 6, and 7 encode the same isoform (b).
    Source sequence(s)
    AC139427, DQ121386
    Consensus CDS
    CCDS60762.1
    UniProtKB/Swiss-Prot
    Q86VG3
    Related
    ENSP00000299442.6, ENST00000347206.8
    Conserved Domains (1) summary
    pfam17722
    Location:1 → 135
    DUF5567; Family of unknown function (DUF5567)

  7. NM_138787.4 → NP_620142.2  intraflagellar transport-associated protein isoform a

    See identical proteins and their annotated locations for NP_620142.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a).
    Source sequence(s)
    AK290833, BC051031, BM670168
    Consensus CDS
    CCDS7904.1
    UniProtKB/Swiss-Prot
    D3DR18, Q86VG3, Q96DD6
    UniProtKB/TrEMBL
    A8K468
    Related
    ENSP00000334848.5, ENST00000334307.10
    Conserved Domains (1) summary
    pfam17722
    Location:1 → 209
    DUF5567; Family of unknown function (DUF5567)

RNA

  1. NR_077243.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use start codon used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC139427, AK302634, BM670168
    Related
    ENST00000528092.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    36594502..36659272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519885.4 → XP_011518187.1  intraflagellar transport-associated protein isoform X1

    See identical proteins and their annotated locations for XP_011518187.1

    UniProtKB/Swiss-Prot
    D3DR18, Q86VG3, Q96DD6
    UniProtKB/TrEMBL
    A8K468
    Related
    ENSP00000503448.1, ENST00000676979.1
    Conserved Domains (1) summary
    pfam17722
    Location:1 → 209
    DUF5567; Family of unknown function (DUF5567)

  2. XM_047426343.1 → XP_047282299.1  intraflagellar transport-associated protein isoform X2

  3. XM_006718138.5 → XP_006718201.1  intraflagellar transport-associated protein isoform X1

    See identical proteins and their annotated locations for XP_006718201.1

    UniProtKB/Swiss-Prot
    D3DR18, Q86VG3, Q96DD6
    UniProtKB/TrEMBL
    A8K468
    Related
    ENSP00000431374.2, ENST00000532470.3
    Conserved Domains (1) summary
    pfam17722
    Location:1 → 209
    DUF5567; Family of unknown function (DUF5567)

  4. XM_047426341.1 → XP_047282297.1  intraflagellar transport-associated protein isoform X1

    UniProtKB/Swiss-Prot
    D3DR18, Q86VG3, Q96DD6

  5. XM_047426342.1 → XP_047282298.1  intraflagellar transport-associated protein isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    36737675..36802458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367618.1 → XP_054223593.1  intraflagellar transport-associated protein isoform X1

    UniProtKB/Swiss-Prot
    D3DR18, Q86VG3, Q96DD6

  2. XM_054367621.1 → XP_054223596.1  intraflagellar transport-associated protein isoform X2

  3. XM_054367617.1 → XP_054223592.1  intraflagellar transport-associated protein isoform X1

    UniProtKB/Swiss-Prot
    D3DR18, Q86VG3, Q96DD6

  4. XM_054367619.1 → XP_054223594.1  intraflagellar transport-associated protein isoform X1

    UniProtKB/Swiss-Prot
    D3DR18, Q86VG3, Q96DD6

  5. XM_054367620.1 → XP_054223595.1  intraflagellar transport-associated protein isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86VG3.1 GenPept UniProtKB/Swiss-Prot:Q86VG3

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