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

    Gene ID: 221044, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001303118.2NP_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:1102
      UCMA; Unique cartilage matrix associated protein
    2. NM_001303119.2NP_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:180
      UCMA; Unique cartilage matrix associated protein
    3. NM_145314.3NP_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:1134
      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)