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Aliases for COL24A1 Gene

Aliases for COL24A1 Gene

  • Collagen, Type XXIV, Alpha 1 2 3

External Ids for COL24A1 Gene

Previous GeneCards Identifiers for COL24A1 Gene

  • GC01M086610
  • GC01M085351
  • GC01M085487
  • GC01M085617
  • GC01M085906
  • GC01M086194
  • GC01M084305

Summaries for COL24A1 Gene

GeneCards Summary for COL24A1 Gene

COL24A1 (Collagen, Type XXIV, Alpha 1) is a Protein Coding gene. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL3A1.

UniProtKB/Swiss-Prot for COL24A1 Gene

  • May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL24A1 Gene

Genomics for COL24A1 Gene

Regulatory Elements for COL24A1 Gene

Genomic Location for COL24A1 Gene

Start:
85,729,233 bp from pter
End:
86,156,943 bp from pter
Size:
427,711 bases
Orientation:
Minus strand

Genomic View for COL24A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL24A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL24A1 Gene

Proteins for COL24A1 Gene

  • Protein details for COL24A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q17RW2-COOA1_HUMAN
    Recommended name:
    Collagen alpha-1(XXIV) chain
    Protein Accession:
    Q17RW2
    Secondary Accessions:
    • C9J1X6
    • Q14BD7
    • Q59EX5
    • Q5VY50
    • Q7Z5L5

    Protein attributes for COL24A1 Gene

    Size:
    1714 amino acids
    Molecular mass:
    175496 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for COL24A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL24A1 Gene

Proteomics data for COL24A1 Gene at MOPED

Post-translational modifications for COL24A1 Gene

  • Glycosylation at Asn155, Asn321, and Asn376
  • Modification sites at PhosphoSitePlus

Other Protein References for COL24A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COL24A1 Gene

Domains for COL24A1 Gene

Gene Families for COL24A1 Gene

HGNC:

Suggested Antigen Peptide Sequences for COL24A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q17RW2

UniProtKB/Swiss-Prot:

COOA1_HUMAN :
  • Q17RW2
Domain:
  • Contains 17 collagen-like domains.
  • Contains 1 fibrillar collagen NC1 domain.
  • Contains 1 laminin G-like domain.
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL24A1: view

Function for COL24A1 Gene

Molecular function for COL24A1 Gene

UniProtKB/Swiss-Prot Function: May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development.

Gene Ontology (GO) - Molecular Function for COL24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with COL24A1: view

Phenotypes for COL24A1 Gene

GenomeRNAi human phenotypes for COL24A1:
genes like me logo Genes that share phenotypes with COL24A1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for COL24A1 Gene

Localization for COL24A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL24A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL24A1 Gene COMPARTMENTS Subcellular localization image for COL24A1 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 4
nucleus 2
cytosol 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COL24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL24A1: view

Pathways for COL24A1 Gene

genes like me logo Genes that share pathways with COL24A1: view

Gene Ontology (GO) - Biological Process for COL24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with COL24A1: view

Transcripts for COL24A1 Gene

Unigene Clusters for COL24A1 Gene

Collagen, type XXIV, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL24A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1:
SP2:
SP3:
SP4: -

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40a · 40b ^ 41
SP1: -
SP2:
SP3:
SP4:

Relevant External Links for COL24A1 Gene

GeneLoc Exon Structure for
COL24A1
ECgene alternative splicing isoforms for
COL24A1

Expression for COL24A1 Gene

mRNA expression in normal human tissues for COL24A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COL24A1 Gene

SOURCE GeneReport for Unigene cluster for COL24A1 Gene Hs.659516

genes like me logo Genes that share expressions with COL24A1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COL24A1 Gene

Orthologs for COL24A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL24A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL24A1 35
  • 99.07 (n)
  • 98.6 (a)
dog
(Canis familiaris)
Mammalia COL24A1 35
  • 90.32 (n)
  • 87 (a)
COL24A1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col24a1 35
  • 82.31 (n)
  • 78.49 (a)
Col24a1 16
Col24a1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 37 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Col24a1 35
  • 83.87 (n)
  • 82.15 (a)
chicken
(Gallus gallus)
Aves COL24A1 35
  • 70.27 (n)
  • 65.12 (a)
COL24A1 36
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:ch211-196i2.2 36
  • 30 (a)
ManyToMany
si:dkey-21p1.3 36
  • 40 (a)
ManyToMany
si:dkey-61l1.4 36
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for COL24A1:
  • 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)
  • cow (Bos Taurus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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 COL24A1 Gene

ENSEMBL:
Gene Tree for COL24A1 (if available)
TreeFam:
Gene Tree for COL24A1 (if available)

Paralogs for COL24A1 Gene

genes like me logo Genes that share paralogs with COL24A1: view

Variants for COL24A1 Gene

Sequence variations from dbSNP and Humsavar for COL24A1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs167518 -- 85,807,013(+) AGAAC(C/T)CCAAG intron-variant
rs172693 -- 85,835,296(+) ccaga(C/T)aattt intron-variant
rs172694 -- 85,811,230(+) tgata(A/G)acatt intron-variant
rs184339 -- 85,840,021(+) TACGT(G/T)GACAA intron-variant
rs184340 -- 85,777,209(+) TCCCA(A/T)AGTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL24A1 Gene

Variant ID Type Subtype PubMed ID
nsv871471 CNV Gain 21882294
esv2663357 CNV Deletion 23128226
esv25228 CNV Loss 19812545
nsv871189 CNV Loss 21882294
nsv823409 CNV Loss 20364138
nsv870724 CNV Loss 21882294
nsv462395 CNV Gain 19166990
nsv522304 CNV Gain 19592680
nsv437701 CNV Loss 16327808
nsv10350 CNV Loss 18304495
dgv54n67 CNV Loss 20364138
nsv819896 CNV Loss 19587683
esv23326 CNV Loss 19812545
esv4489 CNV Deletion 18987735
nsv508371 CNV Loss 20534489
esv2714307 CNV Deletion 23290073
esv2675513 CNV Deletion 23128226
esv2421338 CNV Deletion 20811451
nsv433165 CNV Loss 18776910
nsv437871 CNV Loss 16468122
esv2595836 CNV Deletion 19546169
nsv511704 CNV Loss 21212237
esv2075404 CNV Deletion 18987734
esv3715 CNV Deletion 18987735
esv2714318 CNV Deletion 23290073
esv995781 CNV Deletion 20482838
esv8255 CNV Loss 19470904
esv1017473 CNV Deletion 17803354
nsv462406 CNV Gain 19166990
nsv525678 CNV Loss 19592680
esv1008311 CNV Loss 20482838
nsv830481 CNV Gain 17160897
esv2714329 CNV Deletion 23290073
nsv506943 CNV Insertion 20534489

Relevant External Links for COL24A1 Gene

HapMap Linkage Disequilibrium report
COL24A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL24A1 Gene

Disorders for COL24A1 Gene

Relevant External Links for COL24A1

Genetic Association Database (GAD)
COL24A1
Human Genome Epidemiology (HuGE) Navigator
COL24A1
genes like me logo Genes that share disorders with COL24A1: view

No data available for UniProtKB/Swiss-Prot for COL24A1 Gene

Publications for COL24A1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  3. Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone. (PMID: 12874293) Koch M. … Gordon M.K. (J. Biol. Chem. 2003) 3 4
  4. CREB-AP1 protein complexes regulate transcription of the collagen XXIV gene (Col24a1) in osteoblasts. (PMID: 16373341) Matsuo N. … Ramirez F. (J. Biol. Chem. 2006) 3
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3

Products for COL24A1 Gene

Sources for COL24A1 Gene

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