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MATN4 matrilin 4 [ Homo sapiens (human) ]

Gene ID: 8785, updated on 7-Jun-2020

Summary

Official Symbol
MATN4provided by HGNC
Official Full Name
matrilin 4provided by HGNC
Primary source
HGNC:HGNC:6910
See related
Ensembl:ENSG00000124159 MIM:603897
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
Summary
This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression
Biased expression in pancreas (RPKM 6.7), skin (RPKM 0.9) and 2 other tissues See more
Orthologs

Genomic context

See MATN4 in Genome Data Viewer
Location:
20q13.12
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (45293446..45308566, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43922086..43937206, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372630 Neighboring gene semenogelin 2 Neighboring gene secretory leukocyte peptidase inhibitor Neighboring gene recombination signal binding protein for immunoglobulin kappa J region like Neighboring gene tRNA-Val (anticodon CAC) 14-1 Neighboring gene syndecan 4

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14417, HE6WCR54

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
extracellular matrix organization TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_033953.1 RefSeqGene

    Range
    5001..20084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003833.4NP_003824.2  matrilin-4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_003824.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK074593, BC151219, DA970379
    Consensus CDS
    CCDS13348.1
    UniProtKB/TrEMBL
    A2RRP8, B3KQB2
    Related
    ENSP00000440328.1, ENST00000537548.2
    Conserved Domains (3) summary
    cd01475
    Location:31253
    vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...
    pfam14670
    Location:260295
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:342578
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  2. NM_030590.4NP_085080.1  matrilin-4 isoform 2 precursor

    See identical proteins and their annotated locations for NP_085080.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AK074597, BC141811
    Consensus CDS
    CCDS46607.1
    UniProtKB/Swiss-Prot
    O95460
    UniProtKB/TrEMBL
    A2RRP8, A5D8U1
    Related
    ENSP00000353819.5, ENST00000360607.10
    Conserved Domains (2) summary
    pfam14670
    Location:260295
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:301537
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  3. NM_030592.3NP_085095.1  matrilin-4 isoform 3 precursor

    See identical proteins and their annotated locations for NP_085095.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks two alternate in-frame exons in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1. This variant lacks publicly available transcript support but is supported by data in PMID:9827539.
    Source sequence(s)
    AK074597, BC151219
    UniProtKB/Swiss-Prot
    O95460
    UniProtKB/TrEMBL
    A2RRP8, A6NNA4
    Related
    ENSP00000243983.5, ENST00000353917.9
    Conserved Domains (1) summary
    cl00057
    Location:260496
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    45293446..45308566 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028115.1XP_016883604.1  matrilin-4 isoform X3

  2. XM_017028114.1XP_016883603.1  matrilin-4 isoform X2

  3. XM_005260597.1XP_005260654.1  matrilin-4 isoform X4

    See identical proteins and their annotated locations for XP_005260654.1

    UniProtKB/Swiss-Prot
    O95460
    Related
    ENSP00000361842.1, ENST00000372756.5
    Conserved Domains (3) summary
    cd01475
    Location:31253
    vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...
    pfam14670
    Location:260295
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:342578
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  4. XM_017028113.1XP_016883602.1  matrilin-4 isoform X1

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