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    HOATZ HOATZ cilia and flagella associated protein [ Homo sapiens (human) ]

    Gene ID: 399949, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HOATZprovided by HGNC
    Official Full Name
    HOATZ cilia and flagella associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:25061
    See related
    Ensembl:ENSG00000183644 AllianceGenome:HGNC:25061
    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
    C11orf88
    Summary
    Predicted to be involved in axoneme assembly; flagellated sperm motility; and spermatogenesis. Predicted to be located in cilium and cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 9.4), lung (RPKM 6.2) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See HOATZ in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111514778..111537043)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111524926..111547188)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111385503..111407768)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BTG anti-proliferation factor 4 Neighboring gene MIR34B and MIR34C host gene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111410548-111411227 Neighboring gene microRNA 34b Neighboring gene microRNA 34c Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:111424938-111426137 Neighboring gene Sharpr-MPRA regulatory region 3081 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:111435687-111436190 Neighboring gene layilin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3899 Neighboring gene salt inducible kinase 2 Neighboring gene RN7SK pseudogene 273

    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. Discovery of a Vertebrate-Specific Factor that Processes Flagellar Glycolytic Enolase during Motile Ciliogenesis. Narita K, et al. iScience, 2020 Apr 24. PMID 32248064, Free PMC Article
    2. 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

    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)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46266

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in flagellated sperm motility 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 cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein HOATZ
    Names
    UPF0722 protein C11orf88
    hypothetical gene supported by BC039505
    protein Hoatz

    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_001100388.2 → NP_001093858.1  cilia- and flagella-associated protein HOATZ isoform 2

      See identical proteins and their annotated locations for NP_001093858.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AP002008
      Consensus CDS
      CCDS41713.1
      UniProtKB/Swiss-Prot
      E9PAN0, Q6PI97, Q6ZRL3
      UniProtKB/TrEMBL
      E9PN74
      Related
      ENSP00000364768.4, ENST00000375618.9

    2. NM_207430.2 → NP_997313.2  cilia- and flagella-associated protein HOATZ isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI829856, AK128145
      Consensus CDS
      CCDS41712.1
      UniProtKB/TrEMBL
      E9PN74
      Related
      ENSP00000333845.6, ENST00000332814.6

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      111514778..111537043
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      111524926..111547188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PI97.2 GenPept UniProtKB/Swiss-Prot:Q6PI97

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