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Protein

Microfibrillar-associated protein 5

Gene

MFAP5

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

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

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-1566948 Elastic fibre formation
R-HSA-2129379 Molecules associated with elastic fibres
SignaLinkiQ13361

Names & Taxonomyi

Protein namesi
Recommended name:
Microfibrillar-associated protein 5
Short name:
MFAP-5
Alternative name(s):
MP25
Microfibril-associated glycoprotein 2
Short name:
MAGP-2
Gene namesi
Name:MFAP5
Synonyms:MAGP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000197614.10
HGNCiHGNC:29673 MFAP5
MIMi601103 gene
neXtProtiNX_Q13361

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & 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.
See also OMIM:616166
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07268821W → L in AAT9; expression of the mutant protein is significantly decreased. 1 PublicationCorresponds to variant dbSNP:rs724159961EnsemblClinVar.1

Keywords - Diseasei

Aortic aneurysm, Disease mutation

Organism-specific databases

DisGeNETi8076
MalaCardsiMFAP5
MIMi616166 phenotype
OpenTargetsiENSG00000197614
Orphaneti91387 Familial thoracic aortic aneurysm and aortic dissection
PharmGKBiPA134915148

Polymorphism and mutation databases

BioMutaiMFAP5
DMDMi2498553

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000001868522 – 173Microfibrillar-associated protein 5Add BLAST152

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi54O-linked (GalNAc...) threonine1 Publication1
Glycosylationi79N-linked (GlcNAc...) asparagine1 Publication1

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, Glycoprotein

Proteomic databases

PaxDbiQ13361
PeptideAtlasiQ13361
PRIDEiQ13361
ProteomicsDBi59344

PTM databases

GlyConnecti1513
752
iPTMnetiQ13361
PhosphoSitePlusiQ13361
UniCarbKBiQ13361

Expressioni

Gene expression databases

BgeeiENSG00000197614 Expressed in 177 organ(s), highest expression level in myometrium
CleanExiHS_MFAP5
ExpressionAtlasiQ13361 baseline and differential
GenevisibleiQ13361 HS

Organism-specific databases

HPAiHPA010553

Interactioni

Subunit structurei

Interacts with TGFB2. Interacts with BMP2. Interacts with FBN1 (via N-terminal domain) and FBN2.By similarity

Protein-protein interaction databases

BioGridi113750, 48 interactors
STRINGi9606.ENSP00000352455

Structurei

3D structure databases

ProteinModelPortaliQ13361
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi30 – 32Cell attachment siteSequence analysis3

Sequence similaritiesi

Belongs to the MFAP family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J1DR Eukaryota
ENOG410YT9K LUCA
GeneTreeiENSGT00390000017736
HOGENOMiHOG000034641
HOVERGENiHBG052464
InParanoidiQ13361
OMAiLRRMYIV
OrthoDBiEOG091G0QMI
PhylomeDBiQ13361
TreeFamiTF333418

Family and domain databases

InterProiView protein in InterPro
IPR008673 MAGP
PANTHERiPTHR16485 PTHR16485, 1 hit
PfamiView protein in Pfam
PF05507 MAGP, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
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
Length:173
Mass (Da):19,612
Last modified:November 1, 1997 - v1
Checksum:i70CE35B303C710A0
GO
Isoform 2 (identifier: Q13361-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-82: Missing.

Show »
Length:163
Mass (Da):18,608
Checksum:iC9EE4E1165E7CE0E
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B3KW70B3KW70_HUMAN
cDNA FLJ42377 fis, clone UTERU20354...
MFAP5
148Annotation score:
F5H413F5H413_HUMAN
Microfibrillar-associated protein 5
MFAP5
109Annotation score:
F5GYX4F5GYX4_HUMAN
Microfibrillar-associated protein 5
MFAP5
151Annotation score:
F5H2W4F5H2W4_HUMAN
Microfibrillar-associated protein 5
MFAP5
138Annotation score:
F5H1C0F5H1C0_HUMAN
Microfibrillar-associated protein 5
MFAP5
91Annotation score:
F5H7Z2F5H7Z2_HUMAN
Microfibrillar-associated protein 5
MFAP5
128Annotation score:
H0YG03H0YG03_HUMAN
Microfibrillar-associated protein 5
MFAP5
163Annotation score:
H0YGS3H0YGS3_HUMAN
Microfibrillar-associated protein 5
MFAP5
79Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07268821W → L in AAT9; expression of the mutant protein is significantly decreased. 1 PublicationCorresponds to variant dbSNP:rs724159961EnsemblClinVar.1
Natural variantiVAR_03643061V → D in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05661873 – 82Missing in isoform 2. 2 Publications10

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
CCDSiCCDS73437.1 [Q13361-2]
CCDS8595.1 [Q13361-1]
RefSeqiNP_001284638.1, NM_001297709.1 [Q13361-2]
NP_003471.1, NM_003480.3 [Q13361-1]
UniGeneiHs.512842

Genome annotation databases

EnsembliENST00000359478; ENSP00000352455; ENSG00000197614 [Q13361-1]
ENST00000396549; ENSP00000379798; ENSG00000197614 [Q13361-2]
ENST00000540087; ENSP00000440496; ENSG00000197614 [Q13361-2]
GeneIDi8076
KEGGihsa:8076
UCSCiuc001qus.3 human [Q13361-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS73437.1 [Q13361-2]
CCDS8595.1 [Q13361-1]
RefSeqiNP_001284638.1, NM_001297709.1 [Q13361-2]
NP_003471.1, NM_003480.3 [Q13361-1]
UniGeneiHs.512842

3D structure databases

ProteinModelPortaliQ13361
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113750, 48 interactors
STRINGi9606.ENSP00000352455

PTM databases

GlyConnecti1513
752
iPTMnetiQ13361
PhosphoSitePlusiQ13361
UniCarbKBiQ13361

Polymorphism and mutation databases

BioMutaiMFAP5
DMDMi2498553

Proteomic databases

PaxDbiQ13361
PeptideAtlasiQ13361
PRIDEiQ13361
ProteomicsDBi59344

Protocols and materials databases

DNASUi8076
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359478; ENSP00000352455; ENSG00000197614 [Q13361-1]
ENST00000396549; ENSP00000379798; ENSG00000197614 [Q13361-2]
ENST00000540087; ENSP00000440496; ENSG00000197614 [Q13361-2]
GeneIDi8076
KEGGihsa:8076
UCSCiuc001qus.3 human [Q13361-1]

Organism-specific databases

CTDi8076
DisGeNETi8076
EuPathDBiHostDB:ENSG00000197614.10
GeneCardsiMFAP5
HGNCiHGNC:29673 MFAP5
HPAiHPA010553
MalaCardsiMFAP5
MIMi601103 gene
616166 phenotype
neXtProtiNX_Q13361
OpenTargetsiENSG00000197614
Orphaneti91387 Familial thoracic aortic aneurysm and aortic dissection
PharmGKBiPA134915148
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J1DR Eukaryota
ENOG410YT9K LUCA
GeneTreeiENSGT00390000017736
HOGENOMiHOG000034641
HOVERGENiHBG052464
InParanoidiQ13361
OMAiLRRMYIV
OrthoDBiEOG091G0QMI
PhylomeDBiQ13361
TreeFamiTF333418

Enzyme and pathway databases

ReactomeiR-HSA-1566948 Elastic fibre formation
R-HSA-2129379 Molecules associated with elastic fibres
SignaLinkiQ13361

Miscellaneous databases

ChiTaRSiMFAP5 human
GeneWikiiMFAP5
GenomeRNAii8076
PROiPR:Q13361
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197614 Expressed in 177 organ(s), highest expression level in myometrium
CleanExiHS_MFAP5
ExpressionAtlasiQ13361 baseline and differential
GenevisibleiQ13361 HS

Family and domain databases

InterProiView protein in InterPro
IPR008673 MAGP
PANTHERiPTHR16485 PTHR16485, 1 hit
PfamiView protein in Pfam
PF05507 MAGP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMFAP5_HUMAN
AccessioniPrimary (citable) accession number: Q13361
Secondary accession number(s): B0AZL6, D3DUV1, Q7Z490
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: November 7, 2018
This is version 142 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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