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    CIMAP1D CIMAP1 family member D [ Homo sapiens (human) ]

    Gene ID: 284451, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CIMAP1Dprovided by HGNC
    Official Full Name
    CIMAP1 family member Dprovided by HGNC
    Primary source
    HGNC:HGNC:26841
    See related
    Ensembl:ENSG00000181781 AllianceGenome:HGNC:26841
    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
    ODF3L2; C19orf19
    Summary
    Located in cytoplasmic microtubule. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 4.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See CIMAP1D in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (463361..491624, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (414863..444061, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (463361..491624, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene proline-rich proteoglycan 2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:412911-413666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:427767-428344 Neighboring gene SHC adaptor protein 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:428871-430070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:436243-436744 Neighboring gene RNA, 5S ribosomal pseudogene 462 Neighboring gene MPRA-validated peak3210 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:470349-470886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:485653-486171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9600 Neighboring gene uncharacterized LOC124904608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:489477-489978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9602 Neighboring gene MADCAM1 antisense RNA 1 Neighboring gene mucosal vascular addressin cell adhesion molecule 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:506573-507430 Neighboring gene Sharpr-MPRA regulatory region 4509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:511078-511918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:511919-512760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:518458-519364 Neighboring gene tubulin polyglutamylase complex subunit 1

    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
    • 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. Variants in several genomic regions associated with asperger disorder. Salyakina D, et al. Autism Res, 2010 Dec. PMID 21182207, Free PMC Article
    2. Structural specializations of the sperm tail. Leung MR, et al. Cell, 2023 Jun 22. PMID 37327785, Free PMC Article
    3. Tandem immunoprecipitation of phosphotyrosine-mass spectrometry (TIPY-MS) indicates C19ORF19 becomes tyrosine-phosphorylated and associated with activated epidermal growth factor receptor. Tong J, et al. J Proteome Res, 2008 Mar. PMID 18271526
    4. MTR120/KIAA1383, a novel microtubule-associated protein, promotes microtubule stability and ensures cytokinesis. Fong KW, et al. J Cell Sci, 2013 Feb 1. PMID 23264731, Free PMC Article
    5. USP11 mediates repair of DNA-protein cross-links by deubiquitinating SPRTN metalloprotease. Perry M, et al. J Biol Chem, 2021 Jan-Jun. PMID 33567341, Free PMC Article

    See all (16) 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
    Variants in several genomic regions associated with asperger disorder.
    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

    • FLJ40059, MGC129962, MGC129963

    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 cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein CIMAP1D
    Names
    outer dense fiber of sperm tails 3 like 2
    outer dense fiber protein 3-like protein 2

    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_001385597.1 → NP_001372526.1  protein CIMAP1D isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC005775, AC006124
      Consensus CDS
      CCDS92474.1
      Related
      ENSP00000372143.2, ENST00000382696.7

    2. NM_001385598.1 → NP_001372527.1  protein CIMAP1D isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3-5 all encode the same isoform (c).
      Source sequence(s)
      AC005775, AC006124

    3. NM_001385599.1 → NP_001372528.1  protein CIMAP1D isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3-5 all encode the same isoform (c).
      Source sequence(s)
      AC005775, AC006124

    4. NM_001385600.1 → NP_001372529.1  protein CIMAP1D isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3-5 all encode the same isoform (c).
      Source sequence(s)
      AC005775, AC006124

    5. NM_182577.3 → NP_872383.1  protein CIMAP1D isoform a

      See identical proteins and their annotated locations for NP_872383.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC005775, AC006124
      Consensus CDS
      CCDS12027.1
      UniProtKB/Swiss-Prot
      Q3SX64, Q3SX65, Q8N1L2
      Related
      ENSP00000318029.2, ENST00000315489.5

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      463361..491624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259545.6 → XP_005259602.1  protein CIMAP1D isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      414863..444061 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320707.1 → XP_054176682.1  protein CIMAP1D isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3SX64.2 GenPept UniProtKB/Swiss-Prot:Q3SX64

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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