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    DNAI4 dynein axonemal intermediate chain 4 [ Homo sapiens (human) ]

    Gene ID: 79819, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DNAI4provided by HGNC
    Official Full Name
    dynein axonemal intermediate chain 4provided by HGNC
    Primary source
    HGNC:HGNC:26252
    See related
    Ensembl:ENSG00000152763 MIM:619156; AllianceGenome:HGNC:26252
    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
    DIC4; WDR78
    Summary
    Predicted to enable dynein heavy chain binding activity and dynein light chain binding activity. Predicted to be involved in axonemal dynein complex assembly and cilium movement. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in axoneme; dynein axonemal particle; and motile cilium. Predicted to be part of axonemal dynein complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in testis (RPKM 11.4), thyroid (RPKM 2.6) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAI4 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (66812885..66924856, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (66690412..66802384, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (67278568..67390539, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene dynein light chain Tctex-type family member 5 Neighboring gene insulin like 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 974 Neighboring gene MIER1 transcriptional regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 975 Neighboring gene MPRA-validated peak274 silencer Neighboring gene solute carrier family 35 member D1 Neighboring gene MPRA-validated peak275 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:67486227-67487025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 978 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:67562817-67563435 Neighboring gene small nucleolar RNA SNORA31 Neighboring gene chromosome 1 open reading frame 141

    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. A unified taxonomy for ciliary dyneins. Hom EF, et al. Cytoskeleton (Hoboken), 2011 Oct. PMID 21953912, Free PMC Article
    2. Cytoplasmic Metadherin (MTDH) provides survival advantage under conditions of stress by acting as RNA-binding protein. Meng X, et al. J Biol Chem, 2012 Feb 10. PMID 22199357, Free PMC Article
    3. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    4. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (10) 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

    • FLJ23129

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein heavy chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein light chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of axonemal dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of axonemal dynein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in dynein axonemal particle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    dynein axonemal intermediate chain 4
    Names
    WD repeat domain 78
    WD repeat-containing protein 78
    dynein intermediate chain 4, axonemal

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_024763.5 → NP_079039.4  dynein axonemal intermediate chain 4 isoform 1

      See identical proteins and their annotated locations for NP_079039.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL133617, BC126381, DA916550
      Consensus CDS
      CCDS635.1
      UniProtKB/Swiss-Prot
      A8K9W5, B5MDT3, H7BY80, Q5VTH9, Q5VTI0, Q8N5G5, Q9H5R9, Q9UF44
      UniProtKB/TrEMBL
      A0AVI9
      Related
      ENSP00000360065.3, ENST00000371026.8
      Conserved Domains (3) summary
      COG2319
      Location:485 → 845
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:707 → 744
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:493 → 775
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_207014.3 → NP_996897.2  dynein axonemal intermediate chain 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC032406, DA916550
      Consensus CDS
      CCDS44157.1
      UniProtKB/Swiss-Prot
      Q5VTH9
      Related
      ENSP00000360062.3, ENST00000371023.7

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      66812885..66924856 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002354.2 → XP_016857843.1  dynein axonemal intermediate chain 4 isoform X8

      UniProtKB/TrEMBL
      A0AVI9

    2. XM_047430752.1 → XP_047286708.1  dynein axonemal intermediate chain 4 isoform X6

    3. XM_017002353.2 → XP_016857842.1  dynein axonemal intermediate chain 4 isoform X7

      UniProtKB/TrEMBL
      A0AVI9

    4. XM_005271212.4 → XP_005271269.1  dynein axonemal intermediate chain 4 isoform X4

      UniProtKB/TrEMBL
      A0AVI9
      Conserved Domains (3) summary
      COG2319
      Location:420 → 780
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:642 → 679
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:428 → 710
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. XM_047430731.1 → XP_047286687.1  dynein axonemal intermediate chain 4 isoform X3

    6. XM_011542161.3 → XP_011540463.1  dynein axonemal intermediate chain 4 isoform X1

      UniProtKB/TrEMBL
      A0AVI9
      Conserved Domains (3) summary
      COG2319
      Location:482 → 816
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:678 → 715
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:509 → 746
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    7. XM_011542162.3 → XP_011540464.1  dynein axonemal intermediate chain 4 isoform X2

      UniProtKB/TrEMBL
      A0AVI9
      Conserved Domains (3) summary
      COG2319
      Location:488 → 812
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:539 → 583
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:538 → 800
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    8. XM_047430749.1 → XP_047286705.1  dynein axonemal intermediate chain 4 isoform X5

    9. XM_017002355.1 → XP_016857844.1  dynein axonemal intermediate chain 4 isoform X9

      UniProtKB/TrEMBL
      H0YDI6
      Related
      ENSP00000433682.1, ENST00000464352.6

    10. XM_024449821.2 → XP_024305589.1  dynein axonemal intermediate chain 4 isoform X10

      UniProtKB/TrEMBL
      H0YDI6
      Conserved Domains (2) summary
      COG2319
      Location:196 → 536
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:418 → 455
      7WD40; WD40 repeat [structural motif]

    11. XM_017002357.2 → XP_016857846.1  dynein axonemal intermediate chain 4 isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      66690412..66802384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338779.1 → XP_054194754.1  dynein axonemal intermediate chain 4 isoform X8

    2. XM_054338777.1 → XP_054194752.1  dynein axonemal intermediate chain 4 isoform X6

    3. XM_054338778.1 → XP_054194753.1  dynein axonemal intermediate chain 4 isoform X7

    4. XM_054338775.1 → XP_054194750.1  dynein axonemal intermediate chain 4 isoform X4

    5. XM_054338774.1 → XP_054194749.1  dynein axonemal intermediate chain 4 isoform X3

    6. XM_054338772.1 → XP_054194747.1  dynein axonemal intermediate chain 4 isoform X1

    7. XM_054338773.1 → XP_054194748.1  dynein axonemal intermediate chain 4 isoform X2

    8. XM_054338776.1 → XP_054194751.1  dynein axonemal intermediate chain 4 isoform X5

    9. XM_054338780.1 → XP_054194755.1  dynein axonemal intermediate chain 4 isoform X9

    10. XM_054338781.1 → XP_054194756.1  dynein axonemal intermediate chain 4 isoform X10

    11. XM_054338782.1 → XP_054194757.1  dynein axonemal intermediate chain 4 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VTH9.1 GenPept UniProtKB/Swiss-Prot:Q5VTH9

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