UniProtKB - Q13361 (MFAP5_HUMAN)
Protein
Microfibrillar-associated protein 5
Gene
MFAP5
Organism
Homo sapiens (Human)
Status
Functioni
May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:8557636).By similarity1 Publication
GO - Molecular functioni
- extracellular matrix structural constituent Source: ProtInc
GO - Biological processi
- definitive hemopoiesis Source: UniProtKB
- embryonic eye morphogenesis Source: GO_Central
- extracellular matrix organization Source: Reactome
- supramolecular fiber organization Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q13361 |
Reactomei | R-HSA-1566948, Elastic fibre formation R-HSA-2129379, Molecules associated with elastic fibres |
SignaLinki | Q13361 |
Names & Taxonomyi
Protein namesi | Recommended name: Microfibrillar-associated protein 5Short name: MFAP-5 Alternative name(s): MP25 Microfibril-associated glycoprotein 2 Short name: MAGP-2 |
Gene namesi | Name:MFAP5 Synonyms:MAGP2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000197614.10 |
HGNCi | HGNC:29673, MFAP5 |
MIMi | 601103, gene |
neXtProti | NX_Q13361 |
Subcellular locationi
Extracellular region or secreted
Extracellular region or secreted
- collagen-containing extracellular matrix Source: BHF-UCL
- extracellular region Source: Reactome
- microfibril Source: UniProtKB
Keywords - Cellular componenti
Extracellular matrix, SecretedPathology & Biotechi
Involvement in diseasei
Aortic aneurysm, familial thoracic 9 (AAT9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072688 | 21 | W → L in AAT9; expression of the mutant protein is significantly decreased. 1 PublicationCorresponds to variant dbSNP:rs724159961EnsemblClinVar. | 1 |
Keywords - Diseasei
Aortic aneurysm, Disease mutationOrganism-specific databases
DisGeNETi | 8076 |
MalaCardsi | MFAP5 |
MIMi | 616166, phenotype |
OpenTargetsi | ENSG00000197614 |
Orphaneti | 91387, Familial thoracic aortic aneurysm and aortic dissection |
PharmGKBi | PA134915148 |
Miscellaneous databases
Pharosi | Q13361, Tbio |
Polymorphism and mutation databases
BioMutai | MFAP5 |
DMDMi | 2498553 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
ChainiPRO_0000018685 | 22 – 173 | Microfibrillar-associated protein 5Add BLAST | 152 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 54 | O-linked (GalNAc...) threonine1 Publication | 1 | |
Glycosylationi | 79 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Post-translational modificationi
Forms intermolecular disulfide bonds either with other MAGP-2 molecules or with other components of the microfibrils.
N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. O-glycan heterogeneity at Thr-54: HexHexNAc (major) and HexHexNAc + sulfate (minor).2 Publications
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | Q13361 |
MassIVEi | Q13361 |
PaxDbi | Q13361 |
PeptideAtlasi | Q13361 |
PRIDEi | Q13361 |
ProteomicsDBi | 59344 [Q13361-1] 69162 |
PTM databases
GlyConnecti | 752, 4 N-Linked glycans (1 site), 3 O-Linked glycans (1 site) |
GlyGeni | Q13361, 3 sites, 2 O-linked glycans (2 sites) |
iPTMneti | Q13361 |
PhosphoSitePlusi | Q13361 |
UniCarbKBi | Q13361 |
Expressioni
Gene expression databases
Bgeei | ENSG00000197614, Expressed in myometrium and 190 other tissues |
ExpressionAtlasi | Q13361, baseline and differential |
Genevisiblei | Q13361, HS |
Organism-specific databases
HPAi | ENSG00000197614, Tissue enhanced (placenta) |
Interactioni
Subunit structurei
Interacts with TGFB2.
Interacts with BMP2.
Interacts with FBN1 (via N-terminal domain) and FBN2.
By similarityProtein-protein interaction databases
BioGRIDi | 113750, 48 interactors |
STRINGi | 9606.ENSP00000352455 |
Miscellaneous databases
RNActi | Q13361, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 30 – 32 | Cell attachment siteSequence analysis | 3 |
Sequence similaritiesi
Belongs to the MFAP family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | ENOG502S4DY, Eukaryota |
GeneTreei | ENSGT00390000017736 |
InParanoidi | Q13361 |
OMAi | RLICKEH |
OrthoDBi | 288325at2759 |
PhylomeDBi | Q13361 |
TreeFami | TF333418 |
Family and domain databases
InterProi | View protein in InterPro IPR008673, MAGP |
PANTHERi | PTHR16485, PTHR16485, 1 hit |
Pfami | View protein in Pfam PF05507, MAGP, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q13361-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSLLGPKVLL FLAAFIITSD WIPLGVNSQR GDDVTQATPE TFTEDPNLVN
60 70 80 90 100
DPATDETVLA VLADIAPSTD DLASLSEKNT TAECWDEKFT CTRLYSVHRP
110 120 130 140 150
VKQCIHQLCF TSLRRMYIVN KEICSRLVCK EHEAMKDELC RQMAGLPPRR
160 170
LRRSNYFRLP PCENVDLQRP NGL
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H413 | F5H413_HUMAN | Microfibrillar-associated protein 5 | MFAP5 | 109 | Annotation score: | ||
F5H1C0 | F5H1C0_HUMAN | Microfibrillar-associated protein 5 | MFAP5 | 91 | Annotation score: | ||
B3KW70 | B3KW70_HUMAN | Microfibrillar-associated protein 5 | MFAP5 | 148 | Annotation score: | ||
F5GYX4 | F5GYX4_HUMAN | Microfibrillar-associated protein 5 | MFAP5 | 151 | Annotation score: | ||
F5H2W4 | F5H2W4_HUMAN | Microfibrillar-associated protein 5 | MFAP5 | 138 | Annotation score: | ||
F5H7Z2 | F5H7Z2_HUMAN | Microfibrillar-associated protein 5 | MFAP5 | 128 | Annotation score: | ||
H0YGS3 | H0YGS3_HUMAN | Microfibrillar-associated protein 5 | MFAP5 | 79 | Annotation score: | ||
H0YG03 | H0YG03_HUMAN | Microfibrillar-associated protein 5 | MFAP5 | 163 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072688 | 21 | W → L in AAT9; expression of the mutant protein is significantly decreased. 1 PublicationCorresponds to variant dbSNP:rs724159961EnsemblClinVar. | 1 | |
Natural variantiVAR_036430 | 61 | V → D in a breast cancer sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056618 | 73 – 82 | Missing in isoform 2. 2 Publications | 10 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U37283 mRNA Translation: AAA96752.1 AF084927 , AF084919, AF084920, AF084921, AF084922, AF084923, AF084924, AF084925, AF084926 Genomic DNA Translation: AAC83942.1 AY339060 mRNA Translation: AAQ18021.1 AK299475 mRNA Translation: BAG61439.1 AK315807 mRNA Translation: BAF98698.1 AC092184 Genomic DNA No translation available. AC092490 Genomic DNA No translation available. CH471116 Genomic DNA Translation: EAW88613.1 CH471116 Genomic DNA Translation: EAW88614.1 BC005901 mRNA Translation: AAH05901.1 |
CCDSi | CCDS73437.1 [Q13361-2] CCDS8595.1 [Q13361-1] |
RefSeqi | NP_001284638.1, NM_001297709.1 [Q13361-2] NP_003471.1, NM_003480.3 [Q13361-1] |
Genome annotation databases
Ensembli | ENST00000359478; ENSP00000352455; ENSG00000197614 [Q13361-1] ENST00000396549; ENSP00000379798; ENSG00000197614 [Q13361-2] ENST00000540087; ENSP00000440496; ENSG00000197614 [Q13361-2] |
GeneIDi | 8076 |
KEGGi | hsa:8076 |
UCSCi | uc001qus.3, human [Q13361-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U37283 mRNA Translation: AAA96752.1 AF084927 , AF084919, AF084920, AF084921, AF084922, AF084923, AF084924, AF084925, AF084926 Genomic DNA Translation: AAC83942.1 AY339060 mRNA Translation: AAQ18021.1 AK299475 mRNA Translation: BAG61439.1 AK315807 mRNA Translation: BAF98698.1 AC092184 Genomic DNA No translation available. AC092490 Genomic DNA No translation available. CH471116 Genomic DNA Translation: EAW88613.1 CH471116 Genomic DNA Translation: EAW88614.1 BC005901 mRNA Translation: AAH05901.1 |
CCDSi | CCDS73437.1 [Q13361-2] CCDS8595.1 [Q13361-1] |
RefSeqi | NP_001284638.1, NM_001297709.1 [Q13361-2] NP_003471.1, NM_003480.3 [Q13361-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 113750, 48 interactors |
STRINGi | 9606.ENSP00000352455 |
PTM databases
GlyConnecti | 752, 4 N-Linked glycans (1 site), 3 O-Linked glycans (1 site) |
GlyGeni | Q13361, 3 sites, 2 O-linked glycans (2 sites) |
iPTMneti | Q13361 |
PhosphoSitePlusi | Q13361 |
UniCarbKBi | Q13361 |
Polymorphism and mutation databases
BioMutai | MFAP5 |
DMDMi | 2498553 |
Proteomic databases
jPOSTi | Q13361 |
MassIVEi | Q13361 |
PaxDbi | Q13361 |
PeptideAtlasi | Q13361 |
PRIDEi | Q13361 |
ProteomicsDBi | 59344 [Q13361-1] 69162 |
Protocols and materials databases
Antibodypediai | 2040, 206 antibodies |
DNASUi | 8076 |
Genome annotation databases
Ensembli | ENST00000359478; ENSP00000352455; ENSG00000197614 [Q13361-1] ENST00000396549; ENSP00000379798; ENSG00000197614 [Q13361-2] ENST00000540087; ENSP00000440496; ENSG00000197614 [Q13361-2] |
GeneIDi | 8076 |
KEGGi | hsa:8076 |
UCSCi | uc001qus.3, human [Q13361-1] |
Organism-specific databases
CTDi | 8076 |
DisGeNETi | 8076 |
EuPathDBi | HostDB:ENSG00000197614.10 |
GeneCardsi | MFAP5 |
HGNCi | HGNC:29673, MFAP5 |
HPAi | ENSG00000197614, Tissue enhanced (placenta) |
MalaCardsi | MFAP5 |
MIMi | 601103, gene 616166, phenotype |
neXtProti | NX_Q13361 |
OpenTargetsi | ENSG00000197614 |
Orphaneti | 91387, Familial thoracic aortic aneurysm and aortic dissection |
PharmGKBi | PA134915148 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S4DY, Eukaryota |
GeneTreei | ENSGT00390000017736 |
InParanoidi | Q13361 |
OMAi | RLICKEH |
OrthoDBi | 288325at2759 |
PhylomeDBi | Q13361 |
TreeFami | TF333418 |
Enzyme and pathway databases
PathwayCommonsi | Q13361 |
Reactomei | R-HSA-1566948, Elastic fibre formation R-HSA-2129379, Molecules associated with elastic fibres |
SignaLinki | Q13361 |
Miscellaneous databases
BioGRID-ORCSi | 8076, 9 hits in 841 CRISPR screens |
ChiTaRSi | MFAP5, human |
GeneWikii | MFAP5 |
GenomeRNAii | 8076 |
Pharosi | Q13361, Tbio |
PROi | PR:Q13361 |
RNActi | Q13361, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000197614, Expressed in myometrium and 190 other tissues |
ExpressionAtlasi | Q13361, baseline and differential |
Genevisiblei | Q13361, HS |
Family and domain databases
InterProi | View protein in InterPro IPR008673, MAGP |
PANTHERi | PTHR16485, PTHR16485, 1 hit |
Pfami | View protein in Pfam PF05507, MAGP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MFAP5_HUMAN | |
Accessioni | Q13361Primary (citable) accession number: Q13361 Secondary accession number(s): B0AZL6, D3DUV1, Q7Z490 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 1, 1997 | |
Last modified: | December 2, 2020 | |
This is version 155 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations