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

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: mouse all
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Genomic context

Location:: 10p13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (13221766..13234374, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (13234493..13247115, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (13263766..13276374, complement)

Chromosome 10 - NC_000010.11 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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).
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.
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).
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.
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.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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
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
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