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    CIMAP3 ciliary microtubule associated protein 3 [ Homo sapiens (human) ]

    Gene ID: 128344, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CIMAP3provided by HGNC
    Official Full Name
    ciliary microtubule associated protein 3provided by HGNC
    Primary source
    HGNC:HGNC:27009
    See related
    Ensembl:ENSG00000173947 MIM:614234; AllianceGenome:HGNC:27009
    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
    PIFO; C1orf88; pitchfork
    Summary
    Enables cytoskeletal protein binding activity and enzyme binding activity. Involved in positive regulation of kinase activity. Predicted to be located in ciliary basal body and trans-Golgi network. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in thyroid (RPKM 7.2), testis (RPKM 6.6) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CIMAP3 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (111324663..111353017)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (111339352..111367700)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111889182..111895639)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chitinase acidic Neighboring gene uncharacterized LOC105378903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:111877825-111878326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:111878327-111878826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1183 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:111895985-111896486 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:111901823-111902650 Neighboring gene uncharacterized LOC105378904 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:111906935-111908134 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Pitchfork regulates primary cilia disassembly and left-right asymmetry. Kinzel D, et al. Dev Cell, 2010 Jul 20. PMID 20643351, Free PMC Article
    2. Structural specializations of the sperm tail. Leung MR, et al. Cell, 2023 Jun 22. PMID 37327785, Free PMC Article
    3. Mapping Extracellular Protein-Protein Interactions Using Extracellular Proximity Labeling (ePL). Peeney D, et al. J Proteome Res, 2024 Oct 4. PMID 39238192,
    4. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23853, MGC126550

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cytoskeletal protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables gamma-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables kinesin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic heart tube left/right pattern formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell projection organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell projection organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in trans-Golgi network ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ciliary microtubule-associated protein 3
    Names
    primary cilia formation
    protein pitchfork

    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_001300831.1 → NP_001287760.1  ciliary microtubule-associated protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001287760.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant (1). The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA021608, AK303897, BC050319, BF674731, BU686257
      Consensus CDS
      CCDS72836.1
      UniProtKB/Swiss-Prot
      Q8TCI5
      Related
      ENSP00000358752.4, ENST00000369737.4

    2. NM_181643.6 → NP_857594.2  ciliary microtubule-associated protein 3 isoform 1

      See identical proteins and their annotated locations for NP_857594.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC050319, BC101501, BU686257
      Consensus CDS
      CCDS833.1
      UniProtKB/Swiss-Prot
      D9J0A2, D9J0A3, Q4G0K4, Q52LJ6, Q5T5D5, Q5T5D6, Q8N310, Q8TCI5
      Related
      ENSP00000358753.4, ENST00000369738.9

    RNA

    1. NR_125338.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two internal 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)
      AA021608, AK310801, BC050319, BF674731, BU686257

    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
      111324663..111353017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270472.2 → XP_005270529.1  ciliary microtubule-associated protein 3 isoform X1

    2. XM_017000322.2 → XP_016855811.1  ciliary microtubule-associated protein 3 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      111339352..111367700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334451.1 → XP_054190426.1  ciliary microtubule-associated protein 3 isoform X1

    2. XM_054334452.1 → XP_054190427.1  ciliary microtubule-associated protein 3 isoform X4

    3. XM_054334453.1 → XP_054190428.1  ciliary microtubule-associated protein 3 isoform X2

    4. XM_054334450.1 → XP_054190425.1  ciliary microtubule-associated protein 3 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TCI5.2 GenPept UniProtKB/Swiss-Prot:Q8TCI5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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