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    UCMA upper zone of growth plate and cartilage matrix associated [ Homo sapiens (human) ]

    Gene ID: 221044, updated on 28-Oct-2024

    Summary

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    Official Symbol
    UCMAprovided by HGNC
    Official Full Name
    upper zone of growth plate and cartilage matrix associatedprovided by HGNC
    Primary source
    HGNC:HGNC:25205
    See related
    Ensembl:ENSG00000165623 AllianceGenome:HGNC:25205
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GRP; C10orf49; GRP/UCMA
    Summary
    This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See UCMA in Genome Data Viewer
    Location:
    10p13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (13221766..13234374, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (13234493..13247115, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (13263766..13276374, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr10:13203307-13203620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2151 Neighboring gene Sharpr-MPRA regulatory region 2216 Neighboring gene minichromosome maintenance 10 replication initiation factor Neighboring gene RNA, U6 small nuclear 6, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13276077-13276987 Neighboring gene phytanoyl-CoA 2-hydroxylase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:13341054-13341674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2152 Neighboring gene uncharacterized LOC124902377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3051 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:13343766-13344266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3053

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Exon resequencing of the gene encoding UCma/GRP reveals a common carboxy-terminal 138Thr > Ser polymorphism. Osman A, et al. Clin Lab, 2013. PMID 24409676
    2. Gla-rich protein is involved in the cross-talk between calcification and inflammation in osteoarthritis. Cavaco S, et al. Cell Mol Life Sci, 2016 Mar. PMID 26337479, Free PMC Article
    3. Chronic Kidney Disease Circulating Calciprotein Particles and Extracellular Vesicles Promote Vascular Calcification: A Role for GRP (Gla-Rich Protein). Viegas CSB, et al. Arterioscler Thromb Vasc Biol, 2018 Mar. PMID 29301790
    4. Gla-rich protein function as an anti-inflammatory agent in monocytes/macrophages: Implications for calcification-related chronic inflammatory diseases. Viegas CSB, et al. PLoS One, 2017. PMID 28542410, Free PMC Article
    5. Unique cartilage matrix-associated protein inhibits the migratory and invasive potential of triple-negative breast cancer. Lee SH, et al. Biochem Biophys Res Commun, 2020 Oct 1. PMID 32768190

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of emerging vitamin Kdependent proteins: Growth arrestspecific protein 6, Glarich protein and periostin (Review).
      Title: Role of emerging vitamin K‑dependent proteins: Growth arrest‑specific protein 6, Gla‑rich protein and periostin (Review).
    2. Unique cartilage matrix-associated protein inhibits the migratory and invasive potential of triple-negative breast cancer.
      Title: Unique cartilage matrix-associated protein inhibits the migratory and invasive potential of triple-negative breast cancer.
    3. Decreased levels of GRP and fetuin-A promote circulating calciprotein particle/extracellular vesicle mediated vascular calcification in chronic kidney disease.
      Title: Chronic Kidney Disease Circulating Calciprotein Particles and Extracellular Vesicles Promote Vascular Calcification: A Role for GRP (Gla-Rich Protein).
    4. GRP might act as a novel molecular mediator linking inflammation and calcification events
      Title: Gla-rich protein function as an anti-inflammatory agent in monocytes/macrophages: Implications for calcification-related chronic inflammatory diseases.
    5. The study demonstrates the involvement of GRP in the two major molecular processes affecting osteoarthritis: mineralization and inflammation of articular tissue.
      Title: Gla-rich protein is involved in the cross-talk between calcification and inflammation in osteoarthritis.
    6. Data suggest that novel splice variants of GRP are expressed in cartilage and other tissues (i.e. GRP-F5, GRP-F6); GRP-F1 is predominant splice variant expressed in adult tissues particularly in cartilage of patients with osteoarthritis.
      Title: Insights into the association of Gla-rich protein and osteoarthritis, novel splice variants and γ-carboxylation status.
    7. full exon resequencing of DNA samples from 17 chronic kidney disease patients (stage 5) and 121 healthy controls in a Swsedish population; the 138Thr > Ser polymorphism seems to be the only non-synonymous SNP found in the UCMA gene in a Swedish population
      Title: Exon resequencing of the gene encoding UCma/GRP reveals a common carboxy-terminal 138Thr > Ser polymorphism.
    8. Gla-rich protein (GRP) is a new vitamin K-dependent protein that can bind calcium through Gla residues.
      Title: Gla-rich protein (GRP), a new vitamin K-dependent protein identified from sturgeon cartilage and highly conserved in vertebrates.
    9. The present data strongly suggest an important function of Ucma in the early phase of chondrocyte differentiation.
      Title: Ucma--A novel secreted factor represents a highly specific marker for distal chondrocytes.
    10. Ucma may be involved in the negative control of osteogenic differentiation of osteochondrogenic precursor cells
      Title: Ucma, a novel secreted cartilage-specific protein with implications in osteogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BMP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in embryonic skeletal system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    unique cartilage matrix-associated protein
    Names
    Gla-rich protein

    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_001303118.2 → NP_001290047.1  unique cartilage matrix-associated protein isoform 2 precursor

      See identical proteins and their annotated locations for NP_001290047.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA628504, AL138764, BC018068, JX169864
      UniProtKB/TrEMBL
      A0A067XJP8
      Conserved Domains (1) summary
      pfam17085
      Location:1 → 102
      UCMA; Unique cartilage matrix associated protein

    2. NM_001303119.2 → NP_001290048.1  unique cartilage matrix-associated protein isoform 3

      See identical proteins and their annotated locations for NP_001290048.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AA628504, AL138764, BC018068, JX169865
      UniProtKB/TrEMBL
      A0A067XKV3
      Conserved Domains (1) summary
      pfam17085
      Location:1 → 80
      UCMA; Unique cartilage matrix associated protein

    3. NM_145314.3 → NP_660357.2  unique cartilage matrix-associated protein isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_660357.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA628504, AL138764, BC018068
      Consensus CDS
      CCDS31147.1
      UniProtKB/Swiss-Prot
      Q8WVF2
      UniProtKB/TrEMBL
      A0A067XJX6, R4GMV7
      Related
      ENSP00000367952.3, ENST00000378681.8
      Conserved Domains (1) summary
      pfam17085
      Location:1 → 134
      UCMA; Unique cartilage matrix associated protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      13221766..13234374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      13234493..13247115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVF2.2 GenPept UniProtKB/Swiss-Prot:Q8WVF2

    Gene LinkOut

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