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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
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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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