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    CIMIP7 ciliary microtubule inner protein 7 [ Homo sapiens (human) ]

    Gene ID: 646498, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CIMIP7provided by HGNC
    Official Full Name
    ciliary microtubule inner protein 7provided by HGNC
    Primary source
    HGNC:HGNC:44666
    See related
    Ensembl:ENSG00000236980 AllianceGenome:HGNC:44666
    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
    C3orf84
    Expression
    Restricted expression toward testis (RPKM 1.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See CIMIP7 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49177634..49191858, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49205607..49219926, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49215067..49229291, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49200790-49201290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14358 Neighboring gene coiled-coil domain containing 71 Neighboring gene kelch domain containing 8B Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49230135-49230318 Neighboring gene interactor of HORMAD1 1 Neighboring gene MPRA-validated peak4647 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19858 Neighboring gene GCSH pseudogene 6 Neighboring gene chromosome 3 open reading frame 62 Neighboring gene microRNA 4271

    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

    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)

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C3orf84

    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_001080528.3 → NP_001073997.2  uncharacterized protein C3orf84

      See identical proteins and their annotated locations for NP_001073997.2

      Status: VALIDATED

      Source sequence(s)
      AC135506
      Consensus CDS
      CCDS58831.1
      UniProtKB/Swiss-Prot
      H3BNL1
      Related
      ENSP00000454903.1, ENST00000545770.7
      Conserved Domains (1) summary
      pfam15115
      Location:7 → 116
      HDNR; Domain of unknown function with conserved HDNR motif

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49177634..49191858 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534017.3 → XP_011532319.1  uncharacterized protein C3orf84 isoform X2

      Conserved Domains (1) summary
      pfam15115
      Location:10 → 111
      HDNR; Domain of unknown function with conserved HDNR motif

    2. XM_011534015.3 → XP_011532317.1  uncharacterized protein C3orf84 isoform X1

      UniProtKB/TrEMBL
      H3BQU4
      Related
      ENSP00000455944.1, ENST00000432035.2
      Conserved Domains (1) summary
      pfam15115
      Location:7 → 117
      HDNR; Domain of unknown function with conserved HDNR motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49205607..49219926 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347548.1 → XP_054203523.1  uncharacterized protein C3orf84 isoform X2

    2. XM_054347547.1 → XP_054203522.1  uncharacterized protein C3orf84 isoform X1

      UniProtKB/TrEMBL
      H3BQU4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    H3BNL1.1 GenPept UniProtKB/Swiss-Prot:H3BNL1

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