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    CIMAP1B ciliary microtubule associated protein 1B [ Homo sapiens (human) ]

    Gene ID: 440836, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CIMAP1Bprovided by HGNC
    Official Full Name
    ciliary microtubule associated protein 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:34388
    See related
    Ensembl:ENSG00000177989 AllianceGenome:HGNC:34388
    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
    ODF3B; FAP123; ODF3L3
    Summary
    Predicted to be located in motile cilium. Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in lung (RPKM 15.4), spleen (RPKM 12.9) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CIMAP1B in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50530426..50532498, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51040987..51043059, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50968855..50970927, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13984 Neighboring gene non-SMC condensin II complex subunit H2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50955745-50956678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50965237-50965808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19324 Neighboring gene synthesis of cytochrome C oxidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13988 Neighboring gene thymidine phosphorylase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13989 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50969361-50969866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19326 Neighboring gene ODF3B-KLHDC7B intergenic CAGE-defined mid-level expression enhancer Neighboring gene uncharacterized LOC102724608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19329 Neighboring gene Sharpr-MPRA regulatory region 5393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19330 Neighboring gene KLHDC7B divergent transcript Neighboring gene Sharpr-MPRA regulatory region 13947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13995 Neighboring gene kelch domain containing 7B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13996

    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. Structural properties of 3.0 kb and 3.2 kb transcripts encoding platelet-derived endothelial cell growth factor/thymidine phosphorylase in A431 cells. Usuki K, et al. Biochim Biophys Acta, 1994 Jul 21. PMID 8038210
    2. AirID, a novel proximity biotinylation enzyme, for analysis of protein-protein interactions. Kido K, et al. Elife, 2020 May 11. PMID 32391793, Free PMC Article
    3. Structural specializations of the sperm tail. Leung MR, et al. Cell, 2023 Jun 22. PMID 37327785, Free PMC Article
    4. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Ganesh SK, et al. Nat Genet, 2009 Nov. PMID 19862010, Free PMC Article
    5. Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107413

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    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)

    Genotypes

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ciliary microtubule associated protein 1B
    Names
    orf2 5' to PD-ECGF/TP
    outer dense fiber of sperm tails 3B
    outer dense fiber protein 3-like protein 3
    outer dense fiber protein 3B

    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_001014440.4 → NP_001014440.2  ciliary microtubule associated protein 1B isoform 3

      See identical proteins and their annotated locations for NP_001014440.2

      Status: VALIDATED

      Source sequence(s)
      AW291097, BC127935, BG149596
      Consensus CDS
      CCDS43039.1
      UniProtKB/Swiss-Prot
      A0PK18, A8MYP8
      Related
      ENSP00000382804.2, ENST00000329363.9

    2. NM_001382807.1 → NP_001369736.1  ciliary microtubule associated protein 1B isoform 2

      Status: VALIDATED

      Source sequence(s)
      U62317
      Consensus CDS
      CCDS93189.1
      UniProtKB/TrEMBL
      B5MD02
      Related
      ENSP00000384310.1, ENST00000401779.5

    3. NM_001382808.1 → NP_001369737.1  ciliary microtubule associated protein 1B isoform 1

      Status: VALIDATED

      Source sequence(s)
      U62317
      Consensus CDS
      CCDS93190.1
      UniProtKB/TrEMBL
      A0A8C8KQ56
      Related
      ENSP00000390712.3, ENST00000428989.3

    4. NM_001410791.1 → NP_001397720.1  ciliary microtubule associated protein 1B isoform 4

      Status: VALIDATED

      Source sequence(s)
      U62317
      Consensus CDS
      CCDS93188.1
      UniProtKB/TrEMBL
      B5MC17
      Related
      ENSP00000385123.1, ENST00000403326.5

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      50530426..50532498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441379.1 → XP_047297335.1  ciliary microtubule associated protein 1B isoform X1

    2. XM_047441378.1 → XP_047297334.1  ciliary microtubule associated protein 1B isoform X1

    3. XM_047441382.1 → XP_047297338.1  ciliary microtubule associated protein 1B isoform X4

    4. XM_047441381.1 → XP_047297337.1  ciliary microtubule associated protein 1B isoform X3

    5. XM_047441380.1 → XP_047297336.1  ciliary microtubule associated protein 1B isoform X2

      UniProtKB/Swiss-Prot
      A0PK18, A8MYP8
      Related
      ENSP00000507825.1, ENST00000682240.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      51040987..51043059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325645.1 → XP_054181620.1  ciliary microtubule associated protein 1B isoform X1

    2. XM_054325644.1 → XP_054181619.1  ciliary microtubule associated protein 1B isoform X1

    3. XM_054325648.1 → XP_054181623.1  ciliary microtubule associated protein 1B isoform X4

    4. XM_054325647.1 → XP_054181622.1  ciliary microtubule associated protein 1B isoform X3

    5. XM_054325646.1 → XP_054181621.1  ciliary microtubule associated protein 1B isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MYP8.1 GenPept UniProtKB/Swiss-Prot:A8MYP8

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