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

Gene ID: 128344, updated on 26-Nov-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, Nov 2024]
Expression
Broad expression in thyroid (RPKM 7.2), testis (RPKM 6.6) and 16 other tissues See more
Orthologs
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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: 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. 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

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

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