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    CIMIP5 ciliary microtubule inner protein 5 [ Homo sapiens (human) ]

    Gene ID: 130813, updated on 27-Dec-2024

    Summary

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    Official Symbol
    CIMIP5provided by HGNC
    Official Full Name
    ciliary microtubule inner protein 5provided by HGNC
    Primary source
    HGNC:HGNC:26324
    See related
    Ensembl:ENSG00000150873 AllianceGenome:HGNC:26324
    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
    C2orf50
    Summary
    Located in cilium. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See CIMIP5 in Genome Data Viewer
    Location:
    2p25.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (11133128..11154576)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (11162478..11183718)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (11273254..11291443)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11058947-11059850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11059851-11060754 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:11075650-11076849 Neighboring gene potassium voltage-gated channel modifier subfamily F member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11105924-11106900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11108135-11108636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11108637-11109136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11245073-11245572 Neighboring gene Putative uncharacterized protein FLJ33534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11269908-11270408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11270409-11270909 Neighboring gene ribosomal protein L6 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11292424-11292924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11171 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:11298670-11298918 Neighboring gene solute carrier family 66 member 3 Neighboring gene Sharpr-MPRA regulatory region 13580 Neighboring gene Rho associated coiled-coil containing protein kinase 2 Neighboring gene RNA, U6 small nuclear 1081, pseudogene

    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. Uncovering structural themes across cilia microtubule inner proteins with implications for human cilia function. Andersen JS, et al. Nat Commun, 2024 Mar 27. PMID 38538594, Free PMC Article
    2. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. Luykx JJ, et al. Mol Psychiatry, 2014 Feb. PMID 23319000
    3. A yeast two-hybrid screen reveals that osteopontin associates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. Long P, et al. Eur J Neurosci, 2012 Sep. PMID 22779921
    4. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (8) 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

    EBI GWAS Catalog

    Description
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25143, MGC149401

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C2orf50

    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_001371320.1 → NP_001358249.1  uncharacterized protein C2orf50

      Status: VALIDATED

      Source sequence(s)
      AC018463, AC062028
      Consensus CDS
      CCDS1678.1
      UniProtKB/Swiss-Prot
      A8K9W3, D6W503, Q96LR7
      Conserved Domains (1) summary
      pfam14945
      Location:66 → 130
      LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein

    2. NM_001371321.1 → NP_001358250.1  uncharacterized protein C2orf50

      Status: VALIDATED

      Source sequence(s)
      AC018463, AC062028
      Consensus CDS
      CCDS1678.1
      UniProtKB/Swiss-Prot
      A8K9W3, D6W503, Q96LR7
      Related
      ENSP00000370997.3, ENST00000381585.8
      Conserved Domains (1) summary
      pfam14945
      Location:66 → 130
      LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein

    3. NM_182500.4 → NP_872306.1  uncharacterized protein C2orf50

      See identical proteins and their annotated locations for NP_872306.1

      Status: VALIDATED

      Source sequence(s)
      AC018463, AC062028
      Consensus CDS
      CCDS1678.1
      UniProtKB/Swiss-Prot
      A8K9W3, D6W503, Q96LR7
      Related
      ENSP00000384186.3, ENST00000405022.3
      Conserved Domains (1) summary
      pfam14945
      Location:66 → 130
      LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      11133128..11154576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711857.3 → XP_006711920.1  uncharacterized protein C2orf50 isoform X1

      See identical proteins and their annotated locations for XP_006711920.1

      UniProtKB/Swiss-Prot
      A8K9W3, D6W503, Q96LR7
      Conserved Domains (1) summary
      pfam14945
      Location:66 → 130
      LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein

    2. XM_006711858.3 → XP_006711921.1  uncharacterized protein C2orf50 isoform X1

      See identical proteins and their annotated locations for XP_006711921.1

      UniProtKB/Swiss-Prot
      A8K9W3, D6W503, Q96LR7
      Conserved Domains (1) summary
      pfam14945
      Location:66 → 130
      LLC1; Normal lung function maintenance, Low in Lung Cancer 1 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      11162478..11183718
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340590.1 → XP_054196565.1  uncharacterized protein C2orf50 isoform X1

      UniProtKB/Swiss-Prot
      A8K9W3, D6W503, Q96LR7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LR7.1 GenPept UniProtKB/Swiss-Prot:Q96LR7

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