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    DNAAF8 dynein axonemal assembly factor 8 [ Homo sapiens (human) ]

    Gene ID: 146562, updated on 3-Apr-2024

    Summary

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    Official Symbol
    DNAAF8provided by HGNC
    Official Full Name
    dynein axonemal assembly factor 8provided by HGNC
    Primary source
    HGNC:HGNC:25081
    See related
    Ensembl:ENSG00000166246 AllianceGenome:HGNC:25081
    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
    Daap1; C16orf71
    Summary
    Predicted to enable dynein complex binding activity. Predicted to be involved in outer dynein arm assembly. Located in dynein axonemal particle. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 29.4) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4734537..4749396)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4763994..4778854)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4784538..4799397)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene hESC enhancers GRCh37_chr16:4743475-4743982 and GRCh37_chr16:4743983-4744490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4745093-4745593 Neighboring gene nudix hydrolase 16 like 1 Neighboring gene ankyrin repeat and sterile alpha motif domain containing 3 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:4763641-4764282 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:4764283-4764922 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:4768049-4768651 and GRCh37_chr16:4768652-4769253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7163 Neighboring gene zinc finger protein 500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10344 Neighboring gene septin 12 Neighboring gene small integral membrane protein 22 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4852142-4852642 Neighboring gene rogdi atypical leucine zipper

    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. Functional partitioning of a liquid-like organelle during assembly of axonemal dyneins. Lee C, et al. Elife, 2020 Dec 2. PMID 33263282, Free PMC Article
    2. Dynamic Protein Interactions of the Polycomb Repressive Complex 2 during Differentiation of Pluripotent Cells. Oliviero G, et al. Mol Cell Proteomics, 2016 Nov. PMID 27634302, Free PMC Article
    3. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) 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

    • FLJ43261, DKFZp686H2240

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in outer dynein arm assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in dynein axonemal particle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dynein axonemal particle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dynein axonemal assembly factor 8
    Names
    dynein axonemal-associated protein 1
    uncharacterized protein C16orf71

    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_139170.3 → NP_631909.2  dynein axonemal assembly factor 8

      See identical proteins and their annotated locations for NP_631909.2

      Status: VALIDATED

      Source sequence(s)
      BC035024, BI458862, BX648126
      Consensus CDS
      CCDS10521.1
      UniProtKB/Swiss-Prot
      Q8IYS4, Q8NCV0
      UniProtKB/TrEMBL
      K7EPW6
      Related
      ENSP00000299320.4, ENST00000299320.10
      Conserved Domains (1) summary
      pfam15773
      Location:21 → 520
      DUF4701; Domain of unknown function (DUF4701)

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      4734537..4749396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005255144.4 → XP_005255201.1  dynein axonemal assembly factor 8 isoform X2

      Conserved Domains (1) summary
      pfam15773
      Location:1 → 382
      DUF4701; Domain of unknown function (DUF4701)

    2. XM_017022975.2 → XP_016878464.1  dynein axonemal assembly factor 8 isoform X1

      UniProtKB/TrEMBL
      K7EPW6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      4763994..4778854
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379690.1 → XP_054235665.1  dynein axonemal assembly factor 8 isoform X2

    2. XM_054379689.1 → XP_054235664.1  dynein axonemal assembly factor 8 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYS4.3 GenPept UniProtKB/Swiss-Prot:Q8IYS4

    Gene LinkOut

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

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