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

Gene ID: 646498, updated on 17-Sep-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
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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: HPA RNA-seq normal tissues 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. 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)

Genotypes

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

Gene LinkOut

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