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

Gene ID: 284451, updated on 5-Mar-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, Apr 2022]
Expression
Restricted expression toward testis (RPKM 4.1) See more
Orthologs
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Genomic context

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Location:
19p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (463361..491624, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (414863..444061, complement)
105.20220307 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. 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
  3. 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
  4. 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
  5. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568

See all (15) 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)

Genotypes

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_2023_10

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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