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Col10a1 collagen, type X, alpha 1 [ Mus musculus (house mouse) ]

Gene ID: 12813, updated on 17-Jan-2023

Summary

Official Symbol
Col10a1provided by MGI
Official Full Name
collagen, type X, alpha 1provided by MGI
Primary source
MGI:MGI:88445
See related
Ensembl:ENSMUSG00000039462 AllianceGenome:MGI:88445
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Col10; Col10a-1
Summary
Predicted to be an extracellular matrix structural constituent. Predicted to be involved in cartilage development; endochondral ossification; and extracellular matrix organization. Located in cell cortex and extracellular matrix. Part of collagen trimer. Is expressed in several structures, including brain; cartilage; limb; pelvic girdle musculature; and skeletal system. Used to study Schmid metaphyseal chondrodysplasia. Human ortholog(s) of this gene implicated in Schmid metaphyseal chondrodysplasia and osteochondrodysplasia. Orthologous to human COL10A1 (collagen type X alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in limb E14.5 (RPKM 58.1) and CNS E14 (RPKM 6.3) See more
Orthologs
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Genomic context

See Col10a1 in Genome Data Viewer
Location:
10 B1; 10 18.85 cM
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (34265977..34273081)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (34389981..34397085)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26564 Neighboring gene testis-specific protein, Y-encoded-like 1 Neighboring gene TSPY-like 4 Neighboring gene 5'-nucleotidase domain containing 1 Neighboring gene fyn-related kinase Neighboring gene CWC22 spliceosome-associated protein homolog pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (8)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables extracellular matrix structural constituent conferring tensile strength RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cartilage development ISO
Inferred from Sequence Orthology
more info
 
involved_in endochondral ossification ISO
Inferred from Sequence Orthology
more info
 
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
part_of collagen trimer IDA
Inferred from Direct Assay
more info
PubMed 
part_of collagen type X trimer ISO
Inferred from Sequence Orthology
more info
 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in collagen-containing extracellular matrix ISO
Inferred from Sequence Orthology
more info
 
located_in collagen-containing extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of receptor complex ISO
Inferred from Sequence Orthology
more info
PubMed 

General protein information

Preferred Names
collagen alpha-1(X) chain
Names
procollagen, type X, alpha 1

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_009925.4NP_034055.1  collagen alpha-1(X) chain precursor

    See identical proteins and their annotated locations for NP_034055.1

    Status: VALIDATED

    Source sequence(s)
    AC153960, BY141606, CJ326431, CN664467
    Consensus CDS
    CCDS23780.1
    UniProtKB/Swiss-Prot
    Q05306
    Related
    ENSMUSP00000101150.2, ENSMUST00000105511.2
    Conserved Domains (2) summary
    smart00110
    Location:545680
    C1Q; Complement component C1q domain
    pfam01391
    Location:299353
    Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    34265977..34273081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)