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Aliases for C9orf24 Gene

Aliases for C9orf24 Gene

  • Chromosome 9 Open Reading Frame 24 2 3
  • Spermatid-Specific Manchette-Related Protein 1 2 3
  • Ciliated Bronchial Epithelial Protein 1 3 4
  • Testis Development Protein NYD-SP22 3 4
  • Ciliated Bronchial Epithelium 1 2 3
  • SMRP1 3 4
  • CBE1 3 4
  • BA573M23.4 3
  • NYD-SP22 3

External Ids for C9orf24 Gene

Summaries for C9orf24 Gene

Entrez Gene Summary for C9orf24 Gene

  • This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for C9orf24 Gene

C9orf24 (Chromosome 9 Open Reading Frame 24) is a Protein Coding gene. GO annotations related to this gene include alpha-tubulin binding.

UniProtKB/Swiss-Prot for C9orf24 Gene

  • May play a role in spermatogenesis (By similarity). May be involved in differentiation or function of ciliated cells.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf24 Gene

Genomics for C9orf24 Gene

Genomic Location for C9orf24 Gene

Start:
34,379,019 bp from pter
End:
34,397,899 bp from pter
Size:
18,881 bases
Orientation:
Minus strand

Genomic View for C9orf24 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C9orf24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf24 Gene

Regulatory Elements for C9orf24 Gene

Proteins for C9orf24 Gene

  • Protein details for C9orf24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCR6-SMRP1_HUMAN
    Recommended name:
    Spermatid-specific manchette-related protein 1
    Protein Accession:
    Q8NCR6
    Secondary Accessions:
    • Q5T598
    • Q5T599
    • Q5T5A0
    • Q8N9G4
    • Q96KD1
    • Q96LN1

    Protein attributes for C9orf24 Gene

    Size:
    262 amino acids
    Molecular mass:
    30167 Da
    Quaternary structure:
    • Interacts with alpha-tubulin.

    Alternative splice isoforms for C9orf24 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C9orf24 Gene

Proteomics data for C9orf24 Gene at MOPED

Post-translational modifications for C9orf24 Gene

No Post-translational modifications

No data available for DME Specific Peptides for C9orf24 Gene

Domains for C9orf24 Gene

Protein Domains for C9orf24 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C9orf24 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NCR6

UniProtKB/Swiss-Prot:

SMRP1_HUMAN
Family:
  • Belongs to the SMRP1 family.:
    • Q8NCR6
genes like me logo Genes that share domains with C9orf24: view

No data available for Gene Families for C9orf24 Gene

Function for C9orf24 Gene

Molecular function for C9orf24 Gene

UniProtKB/Swiss-Prot Function: May play a role in spermatogenesis (By similarity). May be involved in differentiation or function of ciliated cells.
UniProtKB/Swiss-Prot Induction: Down-regulated by IL13.

Gene Ontology (GO) - Molecular Function for C9orf24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0043014 alpha-tubulin binding IEA --
genes like me logo Genes that share ontologies with C9orf24: view

miRNA for C9orf24 Gene

miRTarBase miRNAs that target C9orf24

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for C9orf24 Gene

Localization for C9orf24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf24 Gene

Cytoplasm, cytoskeleton. Nucleus. Cytoplasm. Note=Localizes to the manchette in elongating spermatids (By similarity). Predominantly perinuclear in bronchial epithelial cells but also detected in the nucleus in some primary epithelial cells and in a number of cell lines. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C9orf24 Gene COMPARTMENTS Subcellular localization image for C9orf24 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for C9orf24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002177 manchette ISS --
GO:0005634 nucleus IDA 15242845
GO:0005737 cytoplasm --
GO:0048471 perinuclear region of cytoplasm IDA 15242845
genes like me logo Genes that share ontologies with C9orf24: view

Pathways for C9orf24 Gene

SuperPathways for C9orf24 Gene

No Data Available

Interacting Proteins for C9orf24 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000297623%0d%0a9606.ENSP00000369816%0d%0a9606.ENSP00000340176%0d%0a
Selected Interacting proteins: ENSP00000297623 Q8NCR6-SMRP1_HUMAN for C9orf24 Gene via STRING UniProtKB I2D

Gene Ontology (GO) - Biological Process for C9orf24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0043623 cellular protein complex assembly IEA --
genes like me logo Genes that share ontologies with C9orf24: view

No data available for Pathways by source for C9orf24 Gene

Transcripts for C9orf24 Gene

Unigene Clusters for C9orf24 Gene

Chromosome 9 open reading frame 24:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf24 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b
SP1: - - - -
SP2: -
SP3: -
SP4: - -
SP5:

Relevant External Links for C9orf24 Gene

GeneLoc Exon Structure for
C9orf24
ECgene alternative splicing isoforms for
C9orf24

Expression for C9orf24 Gene

mRNA expression in normal human tissues for C9orf24 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C9orf24 Gene

This gene is overexpressed in Testis (12.2), Brain - Caudate (basal ganglia) (4.1), and Brain - Nucleus accumbens (basal ganglia) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for C9orf24 Gene

SOURCE GeneReport for Unigene cluster for C9orf24 Gene Hs.50334

mRNA Expression by UniProt/SwissProt for C9orf24 Gene

Q8NCR6-SMRP1_HUMAN
Tissue specificity: Expressed in epithelial cells of nasal polyps and in intact epithelium of bronchial biopsies from subjects with and without asthma. Strong expression in columnar cells with little or no expression in basal epithelial cells along the basement membrane. Strongly expressed in ciliated epithelial cells with lower levels in goblet cells (at protein level).
genes like me logo Genes that share expressions with C9orf24: view

Orthologs for C9orf24 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9orf24 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf24 35
  • 99.62 (n)
  • 98.85 (a)
C9orf24 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C8H9orf24 35
  • 82.41 (n)
  • 79.37 (a)
SMRP1 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C11H9orf24 35
  • 82.15 (n)
  • 76.38 (a)
C9orf24 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1110017D15Rik 35
  • 83.12 (n)
  • 77.25 (a)
1110017D15Rik 16
1110017D15Rik 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C9orf24 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf24 36
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1561916 35
  • 80.91 (n)
  • 75 (a)
chicken
(Gallus gallus)
Aves C9ORF24 35
  • 59.06 (n)
  • 48.55 (a)
C9orf24 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C9orf24 36
  • 44 (a)
OneToOne
Species with no ortholog for C9orf24:
  • A. gosspyii yeast (Ashbya 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 squirt (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)
  • zebrafish (Danio rerio)

Evolution for C9orf24 Gene

ENSEMBL:
Gene Tree for C9orf24 (if available)
TreeFam:
Gene Tree for C9orf24 (if available)

Paralogs for C9orf24 Gene

Selected SIMAP similar genes for C9orf24 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with C9orf24: view

No data available for Paralogs for C9orf24 Gene

Variants for C9orf24 Gene

Sequence variations from dbSNP and Humsavar for C9orf24 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs2381117 -- 34,382,177(+) ACCAG(C/T)CATGT upstream-variant-2KB, intron-variant
rs2381118 -- 34,394,937(+) CCATA(C/T)TGCCA intron-variant, upstream-variant-2KB
rs2890585 -- 34,384,065(+) TGCGA(C/G)ACGGT intron-variant
rs3036364 -- 34,394,966(+) TTTTT(-/TT)AAGAG intron-variant, upstream-variant-2KB
rs3737242 -- 34,379,694(-) GCAGT(A/G)TGCTG missense, reference, synonymous-codon, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for C9orf24 Gene

Variant ID Type Subtype PubMed ID
nsv893037 CNV Gain 21882294
nsv831542 CNV Gain 17160897

Relevant External Links for C9orf24 Gene

HapMap Linkage Disequilibrium report
C9orf24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf24 Gene

Disorders for C9orf24 Gene

No disorders were found for C9orf24 Gene.

No data available for UniProtKB/Swiss-Prot for C9orf24 Gene

Publications for C9orf24 Gene

  1. Chronological expression of Ciliated Bronchial Epithelium 1 during pulmonary development. (PMID: 19213785) Haitchi H.M. … Davies D.E. (Eur. Respir. J. 2009) 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Characterization of ciliated bronchial epithelium 1, a ciliated cell- associated gene induced during mucociliary differentiation. (PMID: 15242845) Yoshisue H. … Holloway J.W. (Am. J. Respir. Cell Mol. Biol. 2004) 3 4
  4. Identification of testis development and spermatogenesis-related genes in human and mouse testes using cDNA arrays. (PMID: 12029067) Sha J. … Zhou K. (Mol. Hum. Reprod. 2002) 2 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for C9orf24 Gene

Sources for C9orf24 Gene

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