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    DRC7 dynein regulatory complex subunit 7 [ Homo sapiens (human) ]

    Gene ID: 84229, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DRC7provided by HGNC
    Official Full Name
    dynein regulatory complex subunit 7provided by HGNC
    Primary source
    HGNC:HGNC:25289
    See related
    Ensembl:ENSG00000159625 MIM:618769; AllianceGenome:HGNC:25289
    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
    FAP50; CFAP50; CCDC135; C16orf50
    Summary
    Predicted to be involved in sperm axoneme assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 24.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See DRC7 in Genome Data Viewer
    Location:
    16q21
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (57694806..57731805)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (63490013..63527011)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (57728718..57765717)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57653277-57653781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57653782-57654285 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57654286-57654790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57656181-57657035 Neighboring gene Sharpr-MPRA regulatory region 10529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57661723-57662378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57662379-57663034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57665003-57665658 Neighboring gene adhesion G protein-coupled receptor G1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:57685116-57685516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57692922-57693920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57693921-57694919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57710685-57711625 Neighboring gene adhesion G protein-coupled receptor G3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10908 Neighboring gene MTCH2 pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57767533-57768510 Neighboring gene uncharacterized LOC107984852 Neighboring gene Sharpr-MPRA regulatory region 7942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57777601-57778101 Neighboring gene katanin regulatory subunit B1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57790901-57791540 Neighboring gene kinesin family member C3 Neighboring gene microRNA 6772

    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. Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment. Zhang D, et al. Cell Cycle, 2012 Oct 15. PMID 22983010, Free PMC Article
    2. Regulation of flagellar motility by the conserved flagellar protein CG34110/Ccdc135/FAP50. Yang Y, et al. Mol Biol Cell, 2011 Apr. PMID 21289096, Free PMC Article
    3. Promyelocytic leukemia protein interacts with the apoptosis-associated speck-like protein to limit inflammasome activation. Dowling JK, et al. J Biol Chem, 2014 Mar 7. PMID 24407287, Free PMC Article
    4. TNRC6 proteins modulate hepatitis C virus replication by spatially regulating the binding of miR-122/Ago2 complexes to viral RNA. Li Y, et al. Nucleic Acids Res, 2019 Jul 9. PMID 30997501, Free PMC Article
    5. TRIM21 ameliorates hepatic glucose and lipid metabolic disorders in type 2 diabetes mellitus by ubiquitination of PEPCK1 and FASN. Zhang K, et al. Cell Mol Life Sci, 2023 May 30. PMID 37249651, Free PMC Article

    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

    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

    • DKFZp434I099

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sperm axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    dynein regulatory complex subunit 7
    Names
    coiled-coil domain containing 135
    coiled-coil domain-containing protein 135
    coiled-coil domain-containing protein lobo homolog

    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_001289162.2 → NP_001276091.1  dynein regulatory complex subunit 7 isoform a

      See identical proteins and their annotated locations for NP_001276091.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC018552, AK093035, AK292558, BC030661, BC036667, DB093780
      Consensus CDS
      CCDS10787.1
      UniProtKB/Swiss-Prot
      A8K943, Q8IY82, Q8NAA0, Q9H080
      Related
      ENSP00000353942.3, ENST00000360716.8
      Conserved Domains (1) summary
      pfam01841
      Location:173 → 210
      Transglut_core; Transglutaminase-like superfamily

    2. NM_001289163.2 → NP_001276092.1  dynein regulatory complex subunit 7 isoform b

      See identical proteins and their annotated locations for NP_001276092.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.
      Source sequence(s)
      AC018552, AK093035, BC036667, DB093780
      Consensus CDS
      CCDS73894.1
      UniProtKB/Swiss-Prot
      Q8IY82
      Related
      ENSP00000338938.8, ENST00000336825.12

    3. NM_032269.6 → NP_115645.4  dynein regulatory complex subunit 7 isoform a

      See identical proteins and their annotated locations for NP_115645.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC018552, AK292558, BC036667
      Consensus CDS
      CCDS10787.1
      UniProtKB/Swiss-Prot
      A8K943, Q8IY82, Q8NAA0, Q9H080
      Related
      ENSP00000377869.4, ENST00000394337.8
      Conserved Domains (1) summary
      pfam01841
      Location:173 → 210
      Transglut_core; Transglutaminase-like superfamily

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      57694806..57731805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434768.1 → XP_047290724.1  dynein regulatory complex subunit 7 isoform X1

      UniProtKB/Swiss-Prot
      A8K943, Q8IY82, Q8NAA0, Q9H080

    2. XM_047434770.1 → XP_047290726.1  dynein regulatory complex subunit 7 isoform X2

    3. XM_047434771.1 → XP_047290727.1  dynein regulatory complex subunit 7 isoform X3

    4. XM_047434772.1 → XP_047290728.1  dynein regulatory complex subunit 7 isoform X4

    5. XM_047434769.1 → XP_047290725.1  dynein regulatory complex subunit 7 isoform X2

    6. XM_047434773.1 → XP_047290729.1  dynein regulatory complex subunit 7 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      63490013..63527011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314152.1 → XP_054170127.1  dynein regulatory complex subunit 7 isoform X1

      UniProtKB/Swiss-Prot
      A8K943, Q8IY82, Q8NAA0, Q9H080

    2. XM_054314154.1 → XP_054170129.1  dynein regulatory complex subunit 7 isoform X2

    3. XM_054314155.1 → XP_054170130.1  dynein regulatory complex subunit 7 isoform X3

    4. XM_054314156.1 → XP_054170131.1  dynein regulatory complex subunit 7 isoform X4

    5. XM_054314153.1 → XP_054170128.1  dynein regulatory complex subunit 7 isoform X2

    6. XM_054314157.1 → XP_054170132.1  dynein regulatory complex subunit 7 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IY82.3 GenPept UniProtKB/Swiss-Prot:Q8IY82

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