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

    Gene ID: 119710, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (36594502..36659272)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (36737675..36802458)
    RS_2024_09 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 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. 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
    3. 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
    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 (22) 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_2024_08

    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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