Aliases for DNAI7 Gene

Aliases for DNAI7 Gene

  • Dynein Axonemal Intermediate Chain 7 2 3
  • Cilia And Flagella Associated Protein 94 2 3 4 5
  • PPP1R54 2 3 4
  • LAS1 2 3 4
  • Cancer Susceptibility Candidate Gene 1 Protein 3 4
  • Protein Phosphatase 1 Regulatory Subunit 54 3 4
  • Dynein Intermediate Chain CFAP94, Axonemal 3 4
  • Lung Adenoma Susceptibility 1-Like Protein 3 4
  • Cancer Susceptibility 1 2 3
  • Protein CASC1 3 4
  • CFAP94 3 5
  • CASC1 3 4
  • Protein Phosphatase 1, Regulatory Subunit 54 2
  • Cancer Susceptibility Candidate 1 3
  • FLJ10921 2

External Ids for DNAI7 Gene

Previous HGNC Symbols for DNAI7 Gene

  • CASC1
  • CFAP94

Summaries for DNAI7 Gene

GeneCards Summary for DNAI7 Gene

DNAI7 (Dynein Axonemal Intermediate Chain 7) is a Protein Coding gene. Diseases associated with DNAI7 include Lung Adenoma and Respiratory System Benign Neoplasm.

UniProtKB/Swiss-Prot Summary for DNAI7 Gene

  • Via its association with the multisubunit axonemal dynein complex, is potentially involved in the regulation of cilia function. May also act as a cell cycle regulator.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAI7 Gene

Genomics for DNAI7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNAI7 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
GH12J025194 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 273.9 -0.3 -344 2.8 TBP ZBTB10 SP1 MXD4 MNT SMAD5 MBD2 POLR2A ELF1 ZIC2 DNAI7 ETFRF1 lnc-LRMP-6 lnc-KRAS-2 KRAS RASSF8-AS1 ENSG00000274987
GH12J025150 Enhancer 0.8 Ensembl ENCODE 22.3 +43.2 43238 2 JUND ATF2 ZBTB21 BHLHE40 CREB1 TRIM28 CHD1 ZNF629 ATF3 ZBTB17 DNAI7 KRAS piR-31311-006 HSALNG0089900 lnc-KRAS-2 IRAG2
GH12J025050 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8 +141.2 141244 6.6 SP1 BCL11A POLR2A BHLHE40 SIN3A ZNF395 GTF2E2 VEZF1 TRIM22 IRF4 IRAG2 HSALNG0089892 DNAI7 ETFRF1 C12orf77 KRAS HSALNG0089893 LOC645177
GH12J024943 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.3 +246.8 246842 9.6 TBP ZBTB10 SP1 BCL11A MXD4 CEBPA MNT IKZF1 SMAD5 ETS1 BCAT1 ENSG00000255921 lnc-CASC1-4 C12orf77 KRAS DNAI7 HSALNG0089884 lnc-BCAT1-6 SOX5
GH12J025253 Enhancer 0.7 Ensembl ENCODE 10.4 -58.6 -58639 2 TEAD3 PRDM6 SPI1 SCRT1 MEIS2 MAFK TRIM28 PKNOX1 ZNF7 TEAD1 DNAI7 KRAS HSALNG0089908 LMNTD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAI7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAI7

Genomic Locations for DNAI7 Gene

Latest Assembly
chr12:25,107,057-25,195,162
(GRCh38/hg38)
Size:
88,106 bases
Orientation:
Minus strand

Previous Assembly
chr12:25,261,223-25,348,094
(GRCh37/hg19 by Entrez Gene)
Size:
86,872 bases
Orientation:
Minus strand

chr12:25,261,354-25,348,096
(GRCh37/hg19 by Ensembl)
Size:
86,743 bases
Orientation:
Minus strand

Genomic View for DNAI7 Gene

Genes around DNAI7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAI7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAI7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAI7 Gene

Proteins for DNAI7 Gene

  • Protein details for DNAI7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6TDU7-CASC1_HUMAN
    Recommended name:
    Dynein intermediate chain CFAP94, axonemal
    Protein Accession:
    Q6TDU7
    Secondary Accessions:
    • B4DNP2
    • F5H6T6
    • Q17RL2
    • Q4G171
    • Q5U5K5
    • Q9NV50

    Protein attributes for DNAI7 Gene

    Size:
    716 amino acids
    Molecular mass:
    83160 Da
    Quaternary structure:
    • Part of the multisubunit axonemal dynein complex formed at least of two heavy chains and a number of intermediate and light chains. Interacts with tubulin. Associates with microtubule.
    SequenceCaution:
    • Sequence=BAA91908.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91908.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAI7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAI7 Gene

Post-translational modifications for DNAI7 Gene

  • Ubiquitinated. Ubiquitination leads to its degradation through the 26S proteasome. Ubiquitin-proteasome-mediated CFAP94 degradation occurs in mitosis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DNAI7 Gene

Domains & Families for DNAI7 Gene

Protein Domains for DNAI7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAI7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57643, highly similar to Homo sapiens cancer susceptibility candidate 1 (CASC1), mRNA (B4DX11_HUMAN)
  • Lung adenoma susceptibility 1-like protein (CASC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6TDU7

UniProtKB/Swiss-Prot:

CASC1_HUMAN :
  • Belongs to the CFAP94 family.
Family:
  • Belongs to the CFAP94 family.
genes like me logo Genes that share domains with DNAI7: view

Function for DNAI7 Gene

Molecular function for DNAI7 Gene

UniProtKB/Swiss-Prot Function:
Via its association with the multisubunit axonemal dynein complex, is potentially involved in the regulation of cilia function. May also act as a cell cycle regulator.

Phenotypes From GWAS Catalog for DNAI7 Gene

Gene Ontology (GO) - Molecular Function for DNAI7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0008017 microtubule binding ISS --
GO:0048487 beta-tubulin binding ISS --
genes like me logo Genes that share ontologies with DNAI7: view
genes like me logo Genes that share phenotypes with DNAI7: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAI7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DNAI7 Gene

Localization for DNAI7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAI7 Gene

Cell projection, cilium. Cytoplasm. Note=Colocalizes with microtubules in interphase. {ECO:0000250 UniProtKB:Q6TDU8}.

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 DNAI7 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
plasma membrane 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DNAI7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005858 axonemal dynein complex IEA,ISS --
GO:0005929 cilium ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with DNAI7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAI7 Gene

Pathways & Interactions for DNAI7 Gene

PathCards logo

SuperPathways for DNAI7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAI7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DNAI7 Gene

Drugs & Compounds for DNAI7 Gene

No Compound Related Data Available

Transcripts for DNAI7 Gene

mRNA/cDNA for DNAI7 Gene

15 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
15 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 DNAI7

Alternative Splicing Database (ASD) splice patterns (SP) for DNAI7 Gene

No ASD Table

Relevant External Links for DNAI7 Gene

GeneLoc Exon Structure for
DNAI7

Expression for DNAI7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAI7

SOURCE GeneReport for Unigene cluster for DNAI7 Gene:

Hs.407771

Evidence on tissue expression from TISSUES for DNAI7 Gene

  • Intestine(4.2)
  • Lung(4.2)
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 DNAI7 Gene

Orthologs for DNAI7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DNAI7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CASC1 30 31
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CASC1 30 31
  • 88.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CASC1 30 31
  • 86.55 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Casc1 30 17 31
  • 70.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Casc1 30
  • 70.29 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CASC1 31
  • 53 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CASC1 31
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC101750345 30
  • 62.55 (n)
CASC1 31
  • 48 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CASC1 31
  • 45 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii casc1 30 31
  • 51.56 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToOne
Species where no ortholog for DNAI7 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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 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 DNAI7 Gene

ENSEMBL:
Gene Tree for DNAI7 (if available)
TreeFam:
Gene Tree for DNAI7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAI7: view image

Paralogs for DNAI7 Gene

No data available for Paralogs for DNAI7 Gene

Variants for DNAI7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAI7 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs10842496 - p.Arg33Ser
rs859146 - p.Ala633Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DNAI7 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 DNAI7 Gene

Variant ID Type Subtype PubMed ID
esv2064539 CNV deletion 18987734
esv2471634 CNV deletion 19546169
esv2652823 CNV deletion 19546169
esv2656765 CNV deletion 23128226
esv2678918 CNV deletion 23128226
esv3628889 CNV loss 21293372
esv3628890 CNV loss 21293372
esv3628891 CNV loss 21293372
nsv1125543 CNV tandem duplication 24896259
nsv469169 CNV gain 19166990
nsv478234 CNV novel sequence insertion 20440878
nsv515612 CNV gain 19592680
nsv53768 CNV deletion 16902084
nsv557775 CNV gain 21841781
nsv557796 CNV loss 21841781
nsv557797 CNV loss 21841781
nsv951341 CNV deletion 24416366

Variation tolerance for DNAI7 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.31; 90.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAI7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAI7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAI7 Gene

Disorders for DNAI7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DNAI7 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
lung adenoma
  • adenoma of lung
respiratory system benign neoplasm
cantu syndrome
  • hypertrichotic osteochondrodysplasia
- elite association - COSMIC cancer census association via MalaCards
Search DNAI7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DNAI7

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DNAI7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAI7 Gene

Publications for DNAI7 Gene

  1. A V141L polymorphism of the human LRMP gene is associated with survival of lung cancer patients. (PMID: 16410263) Manenti G … Dragani TA (Carcinogenesis 2006) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Positional cloning of the major quantitative trait locus underlying lung tumor susceptibility in mice. (PMID: 14583591) Zhang Z … You M (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3

Products for DNAI7 Gene

Sources for DNAI7 Gene