Col24a1 collagen, type XXIV, alpha 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Col24a1provided by MGI
Official Full Name: collagen, type XXIV, alpha 1provided by MGI
Primary source: MGI:MGI:1918605
See related: Ensembl:ENSMUSG00000028197 AllianceGenome:MGI:1918605
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 5430404K19Rik
Summary: This gene encodes the alpha-1 subunit of type XXIV collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein has structural features of invertebrate fibrillar collagens and is expressed predominantly in bone tissue. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Expression: Biased expression in limb E14.5 (RPKM 3.8), frontal lobe adult (RPKM 3.5) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 H2; 3 69.42 cM

Exon count:: 62

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (144998233..145257768)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (145292472..145552013)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Col24alpha1 imparts some of its regulatory control on osteoblast differentiation and mineralization at least partially through interaction with integrin beta3 and the transforming growth factor beta (TGF-beta) /Smads signaling pathway.
Title: Collagen XXIV (Col24α1) promotes osteoblastic differentiation and mineralization through TGF-β/Smads signaling pathway.
These findings lend further support to the hypothesis that collagen XXIV may be implicated in the formation of a mineralization-competent bone matrix.
Title: Collagen XXIV (Col24a1) gene expression is a specific marker of osteoblast differentiation and bone formation.
Data report the characterization of the proximal promoter of the mouse collagen XXIV gene (Col24a1) and its regulation by CREB-AP1 in osteoblastic cells.
Title: CREB-AP1 protein complexes regulate transcription of the collagen XXIV gene (Col24a1) in osteoblasts.
collagen XXIV is an ancient molecule that may contribute to the regulation of type I collagen fibrillogenesis at specific anatomical locations during fetal development
Title: Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2)

General gene information

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Markers

Col24a1 (e-PCR), detects polymorphism
- UniSTS:507402

BB367780 (e-PCR)
- UniSTS:207575

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	IEA Inferred from Electronic Annotation more info
enables extracellular matrix structural constituent conferring tensile strength	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed

Process	Evidence Code	Pubs
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
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

General protein information

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Preferred Names: collagen alpha-1(XXIV) chain

Names: procollagen, type XXIV, 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)

NM_001317733.1 → NP_001304662.1 collagen alpha-1(XXIV) chain isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC123711, AC136729, AC161237

Conserved Domains (2) summary

pfam01391
Location:411 → 468

Collagen; Collagen triple helix repeat (20 copies)

cl02436
Location:702 → 884

COLFI; Fibrillar collagen C-terminal domain
NM_027770.3 → NP_082046.2 collagen alpha-1(XXIV) chain isoform 1 precursor

See identical proteins and their annotated locations for NP_082046.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC123711, AC136729, AC161237

Consensus CDS

CCDS17892.1

UniProtKB/Swiss-Prot

B2RT51, E9QNS5, Q30D77

Related

ENSMUSP00000029848.5, ENSMUST00000029848.5

Conserved Domains (4) summary

pfam01391
Location:577 → 634

Collagen; Collagen triple helix repeat (20 copies)

pfam03157
Location:931 → 1424

Glutenin_hmw; High molecular weight glutenin subunit

cl02436
Location:1550 → 1732

COLFI; Fibrillar collagen C-terminal domain

cl22861
Location:41 → 230

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

144998233..145257768

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011240232.3 → XP_011238534.1 collagen alpha-1(XXIV) chain isoform X1

See identical proteins and their annotated locations for XP_011238534.1

UniProtKB/Swiss-Prot

B2RT51, E9QNS5, Q30D77

Conserved Domains (4) summary

pfam01391
Location:577 → 634

Collagen; Collagen triple helix repeat (20 copies)

pfam03157
Location:931 → 1424

Glutenin_hmw; High molecular weight glutenin subunit

cl02436
Location:1550 → 1732

COLFI; Fibrillar collagen C-terminal domain

cl22861
Location:41 → 230

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_006502097.4 → XP_006502160.1 collagen alpha-1(XXIV) chain isoform X1

See identical proteins and their annotated locations for XP_006502160.1

UniProtKB/Swiss-Prot

B2RT51, E9QNS5, Q30D77

Conserved Domains (4) summary

pfam01391
Location:577 → 634

Collagen; Collagen triple helix repeat (20 copies)

pfam03157
Location:931 → 1424

Glutenin_hmw; High molecular weight glutenin subunit

cl02436
Location:1550 → 1732

COLFI; Fibrillar collagen C-terminal domain

cl22861
Location:41 → 230

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_017319724.3 → XP_017175213.1 collagen alpha-1(XXIV) chain isoform X2

Conserved Domains (2) summary

pfam01391
Location:1006 → 1065

Collagen; Collagen triple helix repeat (20 copies)

cl22861
Location:41 → 230

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
XM_036163325.1 → XP_036019218.1 collagen alpha-1(XXIV) chain isoform X3

Conserved Domains (2) summary

pfam01391
Location:1060 → 1115

Collagen; Collagen triple helix repeat (20 copies)

cl22861
Location:41 → 230

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...