MATN1 - matrilin 1 Gene

Also Known as CMP; CRTM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4146

About MATN1

Cytogenetic location: 1p35.2 Genomic coordinates (GRCh38): 1:30,711,277-30,723,585 (from NCBI)

This gene has 3 transcripts (splice variants), 190 orthologues and 12 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]

MATN1 Products (1)

mRNA Protein Name
NM_002379.3 NP_002370.1 cartilage matrix protein precursor

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15075323 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MATN1 Protein Structure

VWA

VWA: von Willebrand factor type A domain (41 - 211)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (227 - 262)

VWA

VWA: von Willebrand factor type A domain (275 - 443)

Matrilin_ccoil

Matrilin_ccoil: Trimeric coiled-coil oligomerisation domain of matrilin (450 - 495)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 496 a.a.
Protein Preferred Names Protein Names

cartilage matrix protein

  • matrilin 1, cartilage matrix protein

MATN1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84185 Matrilin-1 Antibody (YA3882) ICC/IF, ELISA Human
HY-P84185A Matrilin-1 Antibody (YA3882)(PBS only) ICC/IF, ELISA Human

Related Diseases

Diseases Alias
Relapsing Polychondritis

  • Polychondropathia

  • Polychondritis, Relapsing

  • Chondromalacia, Systemic

  • Chronic Atrophic Polychondritis

  • Recurrent Polychondritis

  • Polychondritis Relapsing
Epidermolysis Bullosa Acquisita

  • Acquired Epidermolysis Bullosa

  • Eb Acquisita

  • Eba

  • Eba - [Epidermolysis Bullosa Acquisita]
Pseudoachondroplasia

  • PSACH

  • Pseudoachondroplastic Dysplasia

  • Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome

  • Spondyloepiphyseal Dysplasia, Pseudoachondroplastic

  • Pseudoachondroplastic Spondyloepiphyseal Dysplasia

  • Spondyloepiphyseal Dysplasia Pseudoachondroplastic
Osteoarthritis

  • Osteoarthrosis

  • Degenerative Joint Disease

  • Hypertrophic Arthritis

  • Arthropathy

  • Degenerative Polyarthritis

  • Degenerative Arthritis

  • Osteoarthrosis And Allied Disorder

  • Arthritis, Degenerative

  • Oa

  • Osteoarthritis Deformans

  • Osteoarthrosis Deformans

  • Kashin-Beck Disease
Synovitis
Parastremmatic Dwarfism

  • Parastremmatic Dysplasia

  • PSTD

  • Dwarfism, Parastremmatic
Chondromalacia

  • Chondromalacia, Unspecified Site

  • Chondromalacia Nos
Epidermolysis Bullosa

  • Acantholysis Bullosa

  • Eb
Achondrogenesis, Type Ii

  • Achondrogenesis Type Ii

  • ACG2

  • Achondrogenesis, Langer-Saldino Type

  • Achondrogenesis Type 2

  • Chondrogenesis Imperfecta

  • Achondrogenesis, Type Ib, Formerly

  • Achondrogenesis, Type Ii Or Hypochondrogenesis

  • Achondrogenesis 2

  • Acg-Ii

  • Achondrogenesis-Hypochondrogenesis Type Ii

  • Achondrogenesis Langer-Saldino Type

  • Achondrogenesis-Hypochondrogenesis, Type Ii

  • Hypochondrogenesis
Transient Bullous Dermolysis Of The Newborn

  • TBDN

  • Transient Bullous Of The Newborn

  • Epidermolysis Bullosa Dystrophica, Neonatal Form

  • Dystrophic Epidermolysis Bullosa, Neonatal

  • Deb, Bullous Dermolysis Of The Newborn

  • Deb-Bdn

  • Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form

  • Self-Improving Dystrophic Epidermolysis Bullosa

  • Self-Improving Deb

  • Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Scoliosis
Geleophysic Dysplasia 2

  • GPHYSD2

  • Geleophysic Dwarfism

  • Dysplasia, Geleophysic, Type 2

  • Geleophysic Dysplasia
Febrile Seizures, Familial, 4

  • FEB4

  • Convulsions, Familial Febrile, 4

  • Familial Febrile Seizures 4

  • Familial Febrile Convulsions 4
Capillary Malformations, Congenital

  • Familial Multiple Nevi Flammei

  • Nevi Flammei, Familial Multiple

  • CMC

  • Port-Wine Stain

  • Capillary Malformations

  • Cmal

  • Familial Multiple Port-Wine Stains

  • Capillary Malformation

  • Capillary Malformations, Congenital, 1, Somatic, Mosaic

  • Congenital Capillary Malformations

  • Port-Wine Stain Familial Multiple

  • Hereditary Capillary Malformations

  • Capillary Malformations, Hereditary

  • Capillary Malformations, Congenital, Type 1, Somatic, Mosaic

  • Strawberry Nevus Of Skin

  • Naevus Flammeus
Hypochondrogenesis

  • Achondrogenesis Type Ii/Hypochondrogenesis
Cartilage Disease

  • Cartilage Diseases

  • Cartilage

  • Cartilage Disorder

  • Chondropathy

  • Cartilage Disorders
Syringomyelia

  • Hydromyelia
Campomelic Dysplasia

  • Acampomelic Campomelic Dysplasia

  • Camptomelic Dysplasia

  • Campomelic Dysplasia With Autosomal Sex Reversal

  • Cmpd

  • CMD1

  • Cmpd1

  • Cmpd1/Sra1

  • Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal

  • Campomelic Dwarfism

  • Campomelic Syndrome

  • Dysplasia, Campomelic

  • Chronic Myeloproliferative Disorder

  • Familial Dilated Cardiomyopathy
Metaphyseal Chondrodysplasia, Schmid Type

  • MCDS

  • Schmid Metaphyseal Chondrodysplasia

  • Metaphyseal Chondrodysplasia Schmid Type

  • Spondylometaphyseal Dysplasia, Japanese Type

  • Japanese Type Spondylometaphyseal Dysplasia

  • Schmid Type Metaphyseal Dysplasia

  • Metaphyseal Chondrodysplasia Type Schmid

  • Schmid Type Metaphyseal Chondrodysplasia

  • SMCD

  • Chondrodysplasia, Metaphyseal, Schmid Type

  • Corneal Dystrophy, Subepithelial Mucinous
Osteochondrodysplasia

  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08170 MATN1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus MATN1 VGNC VGNC:68194
Macaca mulatta MATN1 VGNC VGNC:106405
Canis familiaris MATN1 VGNC VGNC:52217
Mus musculus MATN1 MGD MGI:106591
Bos taurus MATN1 VGNC VGNC:31264
Rattus norvegicus MATN1 RGD RGD:1359410
Others MATN1 NCBI