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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

Gene LinkOut

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