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

Gene ID: 221044, updated on 2-Nov-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
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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 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)

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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_001303118.2NP_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)