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CIMIP3 ciliary microtubule inner protein 3 [ Homo sapiens (human) ]

Gene ID: 114841037, updated on 15-Mar-2024

Summary

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Official Symbol
CIMIP3provided by HGNC
Official Full Name
ciliary microtubule inner protein 3provided by HGNC
Primary source
HGNC:HGNC:55126
See related
Ensembl:ENSG00000287363 AllianceGenome:HGNC:55126
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
GUCA1ANB
Summary
Predicted to enable guanylate cyclase regulator activity. Predicted to be involved in positive regulation of guanylate cyclase activity. Predicted to act upstream of or within phototransduction; regulation of guanylate cyclase activity; and visual perception. Predicted to be located in cone photoreceptor outer segment and photoreceptor inner segment. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

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Location:
6p21.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42155406..42163418)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41983624..41991617)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42123144..42131156)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr6:42017885-42018436 and GRCh37_chr6:42018437-42018988 Neighboring gene TATA-box binding protein associated factor 8 Neighboring gene Sharpr-MPRA regulatory region 7068 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42067953-42068174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17200 Neighboring gene chromosome 6 open reading frame 132 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42104000-42104697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42108933-42109612 Neighboring gene GUCA1ANB-GUCA1A readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42133477-42134444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42146768-42147472 Neighboring gene guanylate cyclase activator 1A Neighboring gene guanylate cyclase activator 1B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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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)

General gene information

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Readthrough GUCA1ANB-GUCA1A

Readthrough gene: GUCA1ANB-GUCA1A, Included gene: GUCA1A

Homology

General protein information

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Preferred Names
putative uncharacterized protein CIMIP3
Names
GUCA1A neighbor

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_001370581.1 → NP_001357510.1  putative uncharacterized protein CIMIP3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL096814, BX106483
    Consensus CDS
    CCDS93922.1
    UniProtKB/Swiss-Prot
    X6R8D5
    Related
    ENSP00000362054.3, ENST00000372963.4

  2. NM_001384994.1 → NP_001371923.1  putative uncharacterized protein CIMIP3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL096814
    Consensus CDS
    CCDS93921.1
    UniProtKB/TrEMBL
    A0A096LNT9
    Related
    ENSP00000485219.1, ENST00000623004.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    42155406..42163418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    41983624..41991617
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
X6R8D5.2 GenPept UniProtKB/Swiss-Prot:X6R8D5

Gene LinkOut

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