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    IFT25 intraflagellar transport 25 [ Homo sapiens (human) ]

    Gene ID: 51668, updated on 27-Nov-2024

    Summary

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    Official Symbol
    IFT25provided by HGNC
    Official Full Name
    intraflagellar transport 25provided by HGNC
    Primary source
    HGNC:HGNC:25019
    See related
    Ensembl:ENSG00000081870 MIM:620841; AllianceGenome:HGNC:25019
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PP25; FAP232; HSPB11; C1orf41; CFAP232; HSPCO34
    Summary
    Predicted to enable metal ion binding activity. Predicted to be involved in kidney development and spermatogenesis. Predicted to act upstream of or within several processes, including left/right axis specification; lung development; and skeletal system development. Part of intraciliary transport particle B. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 22.0), lymph node (RPKM 13.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IFT25 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (53911576..53946305, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (53793420..53829213, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (54382246..54411978, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Yip1 domain family member 1 Neighboring gene Sharpr-MPRA regulatory region 6831 Neighboring gene Sharpr-MPRA regulatory region 3939 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54359446-54359946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54359947-54360447 Neighboring gene uncharacterized LOC124904180 Neighboring gene iodothyronine deiodinase 1 Neighboring gene uncharacterized LOC124904181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 913 Neighboring gene Sharpr-MPRA regulatory region 3629 Neighboring gene leucine rich repeat containing 42 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:54422389-54423588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:54424449-54425155 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 12

    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. Preventing apoptotic cell death by a novel small heat shock protein. Bellyei S, et al. Eur J Cell Biol, 2007 Mar. PMID 17275951
    2. Correlation between the progressive cytoplasmic expression of a novel small heat shock protein (Hsp16.2) and malignancy in brain tumors. Pozsgai E, et al. BMC Cancer, 2007 Dec 21. PMID 18154656, Free PMC Article
    3. Association between small heat shock protein B11 and the prognostic value of MGMT promoter methylation in patients with high-grade glioma. Cheng W, et al. J Neurosurg, 2016 Jul. PMID 26544773
    4. Isolation and characterization of five new soluble placental tissue proteins (PP22, PP23, PP24, PP25, PP26). Bohn H, et al. Arch Gynecol Obstet, 1991. PMID 2018407
    5. Small heat shock proteins are induced during multiple sclerosis lesion development in white but not grey matter. Peferoen LA, et al. Acta Neuropathol Commun, 2015 Dec 22. PMID 26694816, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. HSPB11 was identified as a novel prognostic marker in patients with high-grade glioma.
      Title: Association between small heat shock protein B11 and the prognostic value of MGMT promoter methylation in patients with high-grade glioma.
    3. HSPB11 are induced during multiple sclerosis lesion development in white but not grey matter.
      Title: Small heat shock proteins are induced during multiple sclerosis lesion development in white but not grey matter.
    4. Hsp16.2 expression is directly correlated with the histological grade of brain tumors.
      Title: Correlation between the progressive cytoplasmic expression of a novel small heat shock protein (Hsp16.2) and malignancy in brain tumors.
    5. These data suggest that Hsp16.2 can prevent the destabilization of mitochondrial membrane systems and could represent a suitable target for modulating cell death pathways.
      Title: Preventing apoptotic cell death by a novel small heat shock protein.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion 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 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in left/right axis specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    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
    		  

    General protein information

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    Preferred Names
    intraflagellar transport protein 25 homolog
    Names
    heat shock protein beta-11
    heat shock protein family B (small) member 11
    heat shock protein family B (small), member 11
    heat shock protein family B member 11
    intraflagellar transport 25 homolog
    placental protein 25

    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.

    mRNA and Protein(s)

    1. NM_001316935.2 → NP_001303864.1  intraflagellar transport protein 25 homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variant 1, encodes isoform a.
      Source sequence(s)
      AL031427
      Consensus CDS
      CCDS41341.1
      UniProtKB/Swiss-Prot
      A6NG57, D3DQ45, Q9Y547, Q9Y684
      Conserved Domains (1) summary
      pfam00754
      Location:19 → 121
      F5_F8_type_C; F5/8 type C domain

    2. NM_001382249.1 → NP_001369178.1  intraflagellar transport protein 25 homolog isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variant 6, encodes isoform b.
      Source sequence(s)
      AL031427
      Conserved Domains (1) summary
      cl23730
      Location:19 → 65
      F5_F8_type_C; F5/8 type C domain

    3. NM_001382250.1 → NP_001369179.1  intraflagellar transport protein 25 homolog isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variant 5, encodes isoform b.
      Source sequence(s)
      AL031427
      Conserved Domains (1) summary
      cl23730
      Location:19 → 65
      F5_F8_type_C; F5/8 type C domain

    4. NM_001382251.1 → NP_001369180.1  intraflagellar transport protein 25 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variant 8, encodes isoform c.
      Source sequence(s)
      AL031427

    5. NM_001382252.1 → NP_001369181.1  intraflagellar transport protein 25 homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variant 7, encodes isoform c.
      Source sequence(s)
      AL031427

    6. NM_001382253.1 → NP_001369182.1  intraflagellar transport protein 25 homolog isoform d

      Status: VALIDATED

      Source sequence(s)
      AL031427
      Conserved Domains (1) summary
      cl23730
      Location:19 → 51
      F5_F8_type_C; F5/8 type C domain

    7. NM_001382254.1 → NP_001369183.1  intraflagellar transport protein 25 homolog isoform e

      Status: VALIDATED

      Source sequence(s)
      AL031427

    8. NM_001382261.1 → NP_001369190.1  intraflagellar transport protein 25 homolog isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18) encodes the longest isoform (f).
      Source sequence(s)
      AL031427
      Consensus CDS
      CCDS90960.1
      UniProtKB/TrEMBL
      X6R7Y7
      Related
      ENSP00000360429.2, ENST00000371378.6
      Conserved Domains (1) summary
      pfam00754
      Location:19 → 90
      F5_F8_type_C; F5/8 type C domain

    9. NM_016126.4 → NP_057210.2  intraflagellar transport protein 25 homolog isoform a

      See identical proteins and their annotated locations for NP_057210.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variant 2, encodes isoform a.
      Source sequence(s)
      AL031427
      Consensus CDS
      CCDS41341.1
      UniProtKB/Swiss-Prot
      A6NG57, D3DQ45, Q9Y547, Q9Y684
      Related
      ENSP00000194214.5, ENST00000194214.10
      Conserved Domains (1) summary
      pfam00754
      Location:19 → 121
      F5_F8_type_C; F5/8 type C domain

    RNA

    1. NR_133632.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL031427

    2. NR_133633.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL031427

    3. NR_167989.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL031427

    4. NR_167990.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL031427

    5. NR_167991.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL031427

    6. NR_167992.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL031427

    7. NR_167993.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL031427

    8. NR_167994.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL031427

    9. NR_167995.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL031427

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      53911576..53946305 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422521.1 → XP_047278477.1  intraflagellar transport protein 25 homolog isoform X1

      UniProtKB/TrEMBL
      X6R7Y7

    2. XM_047422520.1 → XP_047278476.1  intraflagellar transport protein 25 homolog isoform X1

      UniProtKB/TrEMBL
      X6R7Y7

    3. XM_047422519.1 → XP_047278475.1  intraflagellar transport protein 25 homolog isoform X1

      UniProtKB/TrEMBL
      X6R7Y7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      53793420..53829213 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336988.1 → XP_054192963.1  intraflagellar transport protein 25 homolog isoform X1

      UniProtKB/TrEMBL
      X6R7Y7

    2. XM_054336989.1 → XP_054192964.1  intraflagellar transport protein 25 homolog isoform X1

      UniProtKB/TrEMBL
      X6R7Y7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y547.1 GenPept UniProtKB/Swiss-Prot:Q9Y547

    Gene LinkOut

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