Aliases for HOATZ Gene

Aliases for HOATZ Gene

  • HOATZ Cilia And Flagella Associated Protein 2 3 5
  • Cilia- And Flagella-Associated Protein HOATZ 3 4
  • Hypothetical Gene Supported By BC039505 2 3
  • C11orf88 3 4
  • Chromosome 11 Open Reading Frame 88 2
  • UPF0722 Protein C11orf88 3
  • Protein Hoatz 3
  • FLJ46266 2
  • HOATZIN 4
  • HOATZ 5

External Ids for HOATZ Gene

Previous HGNC Symbols for HOATZ Gene

  • C11orf88

Previous GeneCards Identifiers for HOATZ Gene

  • GC11P111628

Summaries for HOATZ Gene

GeneCards Summary for HOATZ Gene

HOATZ (HOATZ Cilia And Flagella Associated Protein) is a Protein Coding gene. Diseases associated with HOATZ include Oligoasthenoteratozoospermia. An important paralog of this gene is SELENON.

UniProtKB/Swiss-Prot Summary for HOATZ Gene

  • Required for motile ciliogenesis and flagellar genesis by mediating the maturation of the glycolytic enzyme ENO4.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HOATZ Gene

Genomics for HOATZ Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HOATZ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J111514 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 255.4 +0.1 123 0.6 SIN3A BMI1 RFX1 ELF3 PRDM10 CTCF PKNOX1 HOATZ BTG4 MIR34B MIR34C piR-39656 ENSG00000254980 LAYN
GH11J111512 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 250.7 -1.7 -1677 2.2 CTCF GLIS2 POLR2A EZH2 ZNF335 ZBTB26 BTG4 HOATZ MIR34B MIR34C piR-39656 PPP2R1B LAYN LOC728196 ENSG00000254980 POU2AF1
GH11J111764 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.8 +251.2 251238 3.3 IKZF1 SSRP1 ZNF580 POLR2A NFIC ZIC2 YY1 SMAD5 SIN3A ZNF639 PPP2R1B HSALNG0087137 lnc-SIK2-3 ALG9 SIK2 PIH1D2 NKAPD1 LAYN BTG4 HOATZ
GH11J111375 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 9.2 -136.3 -136291 5.1 BCLAF1 ZNF207 POLR2A IRF4 EBF1 CBFB SMARCA5 MAX TAF1 BHLHE40 POU2AF1 lnc-BTG4-3 COLCA1 COLCA2 ENSG00000255093 BTG4 HOATZ MIR34B MIR34C HSALNG0087098
GH11J111776 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 9.8 +263.1 263102 2.7 ZNF654 CEBPA YY1 MXD4 CTCF REST ZNF592 TRIM22 KMT2B KDM6A PPP2R1B ENSG00000254990 HSALNG0087139 SIK2 ENSG00000255093 POU2AF1 BTG4 HOATZ MIR34B MIR34C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HOATZ on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HOATZ

Genomic Locations for HOATZ Gene

Latest Assembly
chr11:111,514,778-111,537,043
(GRCh38/hg38)
Size:
22,266 bases
Orientation:
Plus strand

Previous Assembly
chr11:111,385,503-111,407,768
(GRCh37/hg19 by Entrez Gene)
Size:
22,266 bases
Orientation:
Plus strand

chr11:111,385,510-111,407,756
(GRCh37/hg19 by Ensembl)
Size:
22,247 bases
Orientation:
Plus strand

Genomic View for HOATZ Gene

Genes around HOATZ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOATZ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOATZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOATZ Gene

Proteins for HOATZ Gene

  • Protein details for HOATZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PI97-HOATZ_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein HOATZ
    Protein Accession:
    Q6PI97
    Secondary Accessions:
    • E9PAN0
    • Q6ZRL3

    Protein attributes for HOATZ Gene

    Size:
    169 amino acids
    Molecular mass:
    19340 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH39505.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for HOATZ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HOATZ Gene

Post-translational modifications for HOATZ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOATZ Gene

No data available for DME Specific Peptides for HOATZ Gene

Domains & Families for HOATZ Gene

Gene Families for HOATZ Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HOATZ Gene

InterPro:

Suggested Antigen Peptide Sequences for HOATZ Gene

GenScript: Design optimal peptide antigens:
  • UPF0722 protein C11orf88 (CK088_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PI97

UniProtKB/Swiss-Prot:

HOATZ_HUMAN :
  • Belongs to the HOATZ family.
Family:
  • Belongs to the HOATZ family.
genes like me logo Genes that share domains with HOATZ: view

Function for HOATZ Gene

Molecular function for HOATZ Gene

UniProtKB/Swiss-Prot Function:
Required for motile ciliogenesis and flagellar genesis by mediating the maturation of the glycolytic enzyme ENO4.

Phenotypes From GWAS Catalog for HOATZ Gene

genes like me logo Genes that share phenotypes with HOATZ: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOATZ

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HOATZ Gene

Localization for HOATZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOATZ Gene

Cytoplasm. Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HOATZ gene
Compartment Confidence
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for HOATZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005929 cilium ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with HOATZ: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HOATZ Gene

Pathways & Interactions for HOATZ Gene

PathCards logo

SuperPathways for HOATZ Gene

No Data Available

Interacting Proteins for HOATZ Gene

Gene Ontology (GO) - Biological Process for HOATZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA,ISS --
GO:0030317 flagellated sperm motility IEA,ISS --
GO:0035082 axoneme assembly IEA,ISS --
GO:0060271 cilium assembly ISS --
genes like me logo Genes that share ontologies with HOATZ: view

No data available for Pathways by source and SIGNOR curated interactions for HOATZ Gene

Drugs & Compounds for HOATZ Gene

No Compound Related Data Available

Transcripts for HOATZ Gene

mRNA/cDNA for HOATZ Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOATZ

Alternative Splicing Database (ASD) splice patterns (SP) for HOATZ Gene

No ASD Table

Relevant External Links for HOATZ Gene

GeneLoc Exon Structure for
HOATZ

Expression for HOATZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lung (Respiratory System)

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HOATZ

SOURCE GeneReport for Unigene cluster for HOATZ Gene:

Hs.411600

Evidence on tissue expression from TISSUES for HOATZ Gene

  • Intestine(4.1)
genes like me logo Genes that share expression patterns with HOATZ: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HOATZ Gene

Orthologs for HOATZ Gene

This gene was present in the common ancestor of chordates.

Orthologs for HOATZ Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C11H11orf88 29
  • 98.81 (n)
C11orf88 30
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C15H11orf88 29
  • 80.26 (n)
C11orf88 30
  • 73 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C5H11orf88 29
  • 78.44 (n)
C11orf88 30
  • 71 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 4833427G06Rik 29 30
  • 76.79 (n)
OneToOne
Hoatz 16
Rat
(Rattus norvegicus)
Mammalia LOC100359479 29
  • 74.27 (n)
Oppossum
(Monodelphis domestica)
Mammalia C11orf88 30
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C11orf88 30
  • 43 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii C5H11orf88 30
  • 38 (a)
OneToOne
Species where no ortholog for HOATZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HOATZ Gene

ENSEMBL:
Gene Tree for HOATZ (if available)
TreeFam:
Gene Tree for HOATZ (if available)
Alliance of Genome Resources:
Additional Orthologs for HOATZ

Paralogs for HOATZ Gene

Paralogs for HOATZ Gene

genes like me logo Genes that share paralogs with HOATZ: view

Variants for HOATZ Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HOATZ Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HOATZ Gene

Variant ID Type Subtype PubMed ID
nsv1119912 CNV deletion 24896259
nsv832268 CNV loss 17160897
nsv976515 CNV deletion 23825009

Variation tolerance for HOATZ Gene

Residual Variation Intolerance Score: 85.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.24; 52.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HOATZ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOATZ
Leiden Open Variation Database (LOVD)
HOATZ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HOATZ Gene

Disorders for HOATZ Gene

MalaCards: The human disease database

(1) MalaCards diseases for HOATZ Gene - From: COP

Disorder Aliases PubMed IDs
oligoasthenoteratozoospermia
  • oat
- elite association - COSMIC cancer census association via MalaCards
Search HOATZ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HOATZ

genes like me logo Genes that share disorders with HOATZ: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HOATZ Gene

Publications for HOATZ Gene

  1. Discovery of a Vertebrate-Specific Factor that Processes Flagellar Glycolytic Enolase during Motile Ciliogenesis. (PMID: 32248064) Narita K … Takeda S (iScience 2020) 2 3
  2. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

No data available for Mastermind for HOATZ Gene

Products for HOATZ Gene

Sources for HOATZ Gene