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Protein

Matrilin-4

Gene

MATN4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Major component of the extracellular matrix of cartilage.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124159-MONOMER.
ReactomeiR-HSA-3000178. ECM proteoglycans.

Names & Taxonomyi

Protein namesi
Recommended name:
Matrilin-4
Gene namesi
Name:MATN4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:6910. MATN4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi8785.
OpenTargetsiENSG00000124159.
PharmGKBiPA30653.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18By similarityAdd BLAST18
ChainiPRO_000000766019 – 622Matrilin-4Add BLAST604

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi69N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi219 ↔ 230PROSITE-ProRule annotation
Disulfide bondi226 ↔ 239PROSITE-ProRule annotation
Disulfide bondi241 ↔ 254PROSITE-ProRule annotation
Glycosylationi251N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi260 ↔ 271PROSITE-ProRule annotation
Disulfide bondi267 ↔ 280PROSITE-ProRule annotation
Disulfide bondi282 ↔ 295PROSITE-ProRule annotation
Disulfide bondi301 ↔ 312PROSITE-ProRule annotation
Glycosylationi305N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi308 ↔ 321PROSITE-ProRule annotation
Disulfide bondi323 ↔ 336PROSITE-ProRule annotation
Disulfide bondi342 ↔ 353PROSITE-ProRule annotation
Disulfide bondi349 ↔ 362PROSITE-ProRule annotation
Disulfide bondi364 ↔ 377PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PeptideAtlasiO95460.
PRIDEiO95460.

PTM databases

iPTMnetiO95460.
PhosphoSitePlusiO95460.

Expressioni

Tissue specificityi

Embryonic kidney, lung and placenta.

Gene expression databases

BgeeiENSG00000124159.
ExpressionAtlasiO95460. baseline and differential.
GenevisibleiO95460. HS.

Interactioni

Subunit structurei

Interacts with COMP.1 Publication

Protein-protein interaction databases

BioGridi114313. 11 interactors.
IntActiO95460. 2 interactors.

Structurei

3D structure databases

ProteinModelPortaliO95460.
SMRiO95460.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 213VWFA 1PROSITE-ProRule annotationAdd BLAST180
Domaini215 – 255EGF-like 1; incompletePROSITE-ProRule annotationAdd BLAST41
Domaini256 – 292EGF-like 2PROSITE-ProRule annotationAdd BLAST37
Domaini297 – 337EGF-like 3PROSITE-ProRule annotationAdd BLAST41
Domaini342 – 377EGF-like 4PROSITE-ProRule annotationAdd BLAST36
Domaini386 – 561VWFA 2PROSITE-ProRule annotationAdd BLAST176

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili591 – 622Sequence analysisAdd BLAST32

Sequence similaritiesi

Contains 4 EGF-like domains.PROSITE-ProRule annotation
Contains 2 VWFA domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, EGF-like domain, Repeat, Signal

Phylogenomic databases

GeneTreeiENSGT00760000119000.
HOVERGENiHBG056906.
InParanoidiO95460.
OMAiQFQGRLC.
OrthoDBiEOG091G04O4.
PhylomeDBiO95460.
TreeFamiTF330078.

Family and domain databases

Gene3Di1.20.5.30. 1 hit.
3.40.50.410. 2 hits.
InterProiIPR026823. cEGF.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR009030. Growth_fac_rcpt_.
IPR030765. Matrilin-3/4.
IPR019466. Matrilin_coiled-coil_trimer.
IPR002035. VWF_A.
[Graphical view]
PANTHERiPTHR11132:SF50. PTHR11132:SF50. 1 hit.
PfamiPF12662. cEGF. 1 hit.
PF10393. Matrilin_ccoil. 1 hit.
PF00092. VWA. 2 hits.
[Graphical view]
SMARTiSM00181. EGF. 4 hits.
SM00179. EGF_CA. 4 hits.
SM01279. Matrilin_ccoil. 1 hit.
SM00327. VWA. 2 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 2 hits.
SSF57184. SSF57184. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 2 hits.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 3 hits.
PS50234. VWFA. 2 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: O95460-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRGLLCWPVL LLLLQPWETQ LQLTGPRCHT GPLDLVFVID SSRSVRPFEF
60 70 80 90 100
ETMRQFLMGL LRGLNVGPNA TRVGVIQYSS QVQSVFPLRA FSRREDMERA
110 120 130 140 150
IRDLVPLAQG TMTGLAIQYA MNVAFSVAEG ARPPEERVPR VAVIVTDGRP
160 170 180 190 200
QDRVAEVAAQ ARARGIEIYA VGVQRADVGS LRAMASPPLD EHVFLVESFD
210 220 230 240 250
LIQEFGLQFQ SRLCGKDQCA EGGHGCQHQC VNAWAMFHCT CNPGYKLAAD
260 270 280 290 300
NKSCLAIDLC AEGTHGCEHH CVNSPGSYFC HCQVGFVLQQ DQRSCRAIDY
310 320 330 340 350
CSFGNHSCQH ECVSTPGGPR CHCREGHDLQ PDGRSCQVRD LCNGVDHGCE
360 370 380 390 400
FQCVSEGLSY RCLCPEGRQL QADGKSCNRC REGHVDLVLL VDGSKSVRPQ
410 420 430 440 450
NFELVKRFVN QIVDFLDVSP EGTRVGLVQF SSRVRTEFPL GRYGTAAEVK
460 470 480 490 500
QAVLAVEYME RGTMTGLALR HMVEHSFSEA QGARPRALNV PRVGLVFTDG
510 520 530 540 550
RSQDDISVWA ARAKEEGIVM YAVGVGKAVE AELREIASEP AELHVSYAPD
560 570 580 590 600
FGTMTHLLEN LRGSICPEEG ISAGTELRSP CECESLVEFQ GRTLGALESL
610 620
TLNLAQLTAR LEDLENQLAN QK
Note: No experimental confirmation available.
Length:622
Mass (Da):68,487
Last modified:August 30, 2005 - v3
Checksum:i283C32AF7EA58C68
GO
Isoform 2 (identifier: O95460-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-255: Missing.

Show »
Length:581
Mass (Da):64,107
Checksum:iCD61982098A4C706
GO
Isoform 3 (identifier: O95460-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-214: Missing.

Note: No experimental confirmation available.
Show »
Length:432
Mass (Da):47,503
Checksum:iD88DD393F26EAB81
GO
Isoform 4 (identifier: O95460-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-255: Missing.
     256-296: Missing.

Note: No experimental confirmation available.
Show »
Length:540
Mass (Da):59,588
Checksum:iBA8481C2D0A4A56C
GO

Sequence cautioni

The sequence BAC11081 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti173V → L in BAC11083 (PubMed:14702039).Curated1
Sequence conflicti563G → S in BAC11083 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05575813L → F.Corresponds to variant rs2743307dbSNPEnsembl.1
Natural variantiVAR_055759164R → S.1 PublicationCorresponds to variant rs2072788dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01525525 – 214Missing in isoform 3. CuratedAdd BLAST190
Alternative sequenceiVSP_001400215 – 255Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST41
Alternative sequenceiVSP_015256256 – 296Missing in isoform 4. 1 PublicationAdd BLAST41

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ007581 mRNA. Translation: CAA07569.1.
AK074595 mRNA. Translation: BAC11081.1. Different initiation.
AK074597 mRNA. Translation: BAC11083.1.
AL021578 Genomic DNA. Translation: CAB39280.1.
AL021578 Genomic DNA. Translation: CAB46380.1.
AL021578 Genomic DNA. Translation: CAI21077.1.
CCDSiCCDS13348.1. [O95460-2]
CCDS46607.1. [O95460-4]
RefSeqiNP_085080.1. NM_030590.3. [O95460-4]
NP_085095.1. NM_030592.3.
XP_005260654.1. XM_005260597.1. [O95460-2]
UniGeneiHs.278489.

Genome annotation databases

EnsembliENST00000360607; ENSP00000353819; ENSG00000124159. [O95460-4]
ENST00000372754; ENSP00000361840; ENSG00000124159. [O95460-1]
ENST00000372756; ENSP00000361842; ENSG00000124159. [O95460-2]
ENST00000537548; ENSP00000440328; ENSG00000124159. [O95460-2]
GeneIDi8785.
KEGGihsa:8785.
UCSCiuc002xno.4. human. [O95460-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ007581 mRNA. Translation: CAA07569.1.
AK074595 mRNA. Translation: BAC11081.1. Different initiation.
AK074597 mRNA. Translation: BAC11083.1.
AL021578 Genomic DNA. Translation: CAB39280.1.
AL021578 Genomic DNA. Translation: CAB46380.1.
AL021578 Genomic DNA. Translation: CAI21077.1.
CCDSiCCDS13348.1. [O95460-2]
CCDS46607.1. [O95460-4]
RefSeqiNP_085080.1. NM_030590.3. [O95460-4]
NP_085095.1. NM_030592.3.
XP_005260654.1. XM_005260597.1. [O95460-2]
UniGeneiHs.278489.

3D structure databases

ProteinModelPortaliO95460.
SMRiO95460.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114313. 11 interactors.
IntActiO95460. 2 interactors.

PTM databases

iPTMnetiO95460.
PhosphoSitePlusiO95460.

Proteomic databases

PeptideAtlasiO95460.
PRIDEiO95460.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360607; ENSP00000353819; ENSG00000124159. [O95460-4]
ENST00000372754; ENSP00000361840; ENSG00000124159. [O95460-1]
ENST00000372756; ENSP00000361842; ENSG00000124159. [O95460-2]
ENST00000537548; ENSP00000440328; ENSG00000124159. [O95460-2]
GeneIDi8785.
KEGGihsa:8785.
UCSCiuc002xno.4. human. [O95460-1]

Organism-specific databases

CTDi8785.
DisGeNETi8785.
GeneCardsiMATN4.
HGNCiHGNC:6910. MATN4.
MIMi603897. gene.
neXtProtiNX_O95460.
OpenTargetsiENSG00000124159.
PharmGKBiPA30653.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00760000119000.
HOVERGENiHBG056906.
InParanoidiO95460.
OMAiQFQGRLC.
OrthoDBiEOG091G04O4.
PhylomeDBiO95460.
TreeFamiTF330078.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124159-MONOMER.
ReactomeiR-HSA-3000178. ECM proteoglycans.

Miscellaneous databases

GenomeRNAii8785.
PROiO95460.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124159.
ExpressionAtlasiO95460. baseline and differential.
GenevisibleiO95460. HS.

Family and domain databases

Gene3Di1.20.5.30. 1 hit.
3.40.50.410. 2 hits.
InterProiIPR026823. cEGF.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR009030. Growth_fac_rcpt_.
IPR030765. Matrilin-3/4.
IPR019466. Matrilin_coiled-coil_trimer.
IPR002035. VWF_A.
[Graphical view]
PANTHERiPTHR11132:SF50. PTHR11132:SF50. 1 hit.
PfamiPF12662. cEGF. 1 hit.
PF10393. Matrilin_ccoil. 1 hit.
PF00092. VWA. 2 hits.
[Graphical view]
SMARTiSM00181. EGF. 4 hits.
SM00179. EGF_CA. 4 hits.
SM01279. Matrilin_ccoil. 1 hit.
SM00327. VWA. 2 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 2 hits.
SSF57184. SSF57184. 1 hit.
PROSITEiPS00010. ASX_HYDROXYL. 2 hits.
PS01186. EGF_2. 2 hits.
PS50026. EGF_3. 3 hits.
PS50234. VWFA. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMATN4_HUMAN
AccessioniPrimary (citable) accession number: O95460
Secondary accession number(s): A6NH94
, A6NKN5, Q5QPU2, Q5QPU3, Q5QPU4, Q8N2M5, Q8N2M7, Q9H1F8, Q9H1F9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: August 30, 2005
Last modified: November 30, 2016
This is version 158 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.