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Protein

Microfibrillar-associated protein 5

Gene

MFAP5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • extracellular matrix structural constituent Source: ProtInc

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_150331. Molecules associated with elastic fibres.
REACT_150366. Elastic fibre formation.
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
ProteomesiUP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:29673. MFAP5.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211W → L in AAT9; expression of the mutant protein is significantly decreased. 1 Publication
VAR_072688

Keywords - Diseasei

Aortic aneurysm, Disease mutation

Organism-specific databases

MIMi616166. phenotype.
PharmGKBiPA134915148.

Polymorphism and mutation databases

BioMutaiMFAP5.
DMDMi2498553.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence AnalysisAdd
BLAST
Chaini22 – 173152Microfibrillar-associated protein 5PRO_0000018685Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi54 – 541O-linked (GalNAc...)1 Publication
Glycosylationi79 – 791N-linked (GlcNAc...)1 Publication

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.
PRIDEiQ13361.

PTM databases

PhosphoSiteiQ13361.

Expressioni

Gene expression databases

BgeeiQ13361.
CleanExiHS_MFAP5.
ExpressionAtlasiQ13361. baseline and differential.
GenevisibleiQ13361. HS.

Organism-specific databases

HPAiCAB020802.
HPA010553.

Interactioni

Subunit structurei

Interacts with TGFB2 (By similarity). Interacts with BMP2 (By similarity).By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000352455.

Structurei

3D structure databases

ProteinModelPortaliQ13361.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi30 – 323Cell attachment siteSequence Analysis

Sequence similaritiesi

Belongs to the MFAP family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG39121.
GeneTreeiENSGT00390000017736.
HOGENOMiHOG000034641.
HOVERGENiHBG052464.
InParanoidiQ13361.
OMAiKNTTAEC.
PhylomeDBiQ13361.
TreeFamiTF333418.

Family and domain databases

InterProiIPR008673. MAGP.
[Graphical view]
PANTHERiPTHR16485. PTHR16485. 1 hit.
PfamiPF05507. MAGP. 1 hit.
[Graphical view]

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

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211W → L in AAT9; expression of the mutant protein is significantly decreased. 1 Publication
VAR_072688
Natural varianti61 – 611V → D in a breast cancer sample; somatic mutation. 1 Publication
VAR_036430

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei73 – 8210Missing in isoform 2. 2 PublicationsVSP_056618

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.
ENST00000396549; ENSP00000379798; ENSG00000197614. [Q13361-2]
ENST00000540087; ENSP00000440496; ENSG00000197614. [Q13361-2]
GeneIDi8076.
KEGGihsa:8076.
UCSCiuc001qus.2. human.
uc001qut.1. human. [Q13361-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

STRINGi9606.ENSP00000352455.

PTM databases

PhosphoSiteiQ13361.

Polymorphism and mutation databases

BioMutaiMFAP5.
DMDMi2498553.

Proteomic databases

PaxDbiQ13361.
PRIDEiQ13361.

Protocols and materials databases

DNASUi8076.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359478; ENSP00000352455; ENSG00000197614.
ENST00000396549; ENSP00000379798; ENSG00000197614. [Q13361-2]
ENST00000540087; ENSP00000440496; ENSG00000197614. [Q13361-2]
GeneIDi8076.
KEGGihsa:8076.
UCSCiuc001qus.2. human.
uc001qut.1. human. [Q13361-1]

Organism-specific databases

CTDi8076.
GeneCardsiGC12M008806.
HGNCiHGNC:29673. MFAP5.
HPAiCAB020802.
HPA010553.
MIMi601103. gene.
616166. phenotype.
neXtProtiNX_Q13361.
PharmGKBiPA134915148.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG39121.
GeneTreeiENSGT00390000017736.
HOGENOMiHOG000034641.
HOVERGENiHBG052464.
InParanoidiQ13361.
OMAiKNTTAEC.
PhylomeDBiQ13361.
TreeFamiTF333418.

Enzyme and pathway databases

ReactomeiREACT_150331. Molecules associated with elastic fibres.
REACT_150366. Elastic fibre formation.
SignaLinkiQ13361.

Miscellaneous databases

GeneWikiiMFAP5.
GenomeRNAii8076.
NextBioi30683.
PROiQ13361.
SOURCEiSearch...

Gene expression databases

BgeeiQ13361.
CleanExiHS_MFAP5.
ExpressionAtlasiQ13361. baseline and differential.
GenevisibleiQ13361. HS.

Family and domain databases

InterProiIPR008673. MAGP.
[Graphical view]
PANTHERiPTHR16485. PTHR16485. 1 hit.
PfamiPF05507. MAGP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)."
    Gibson M.A., Hatzinikolas G., Kumaratilake J.S., Sandberg L.B., Nicholl J.K., Sutherland G.R., Cleary E.G.
    J. Biol. Chem. 271:1096-1103(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
  2. "The exon structure of the human MAGP-2 gene. Similarity with the MAGP-1 gene is confined to two exons encoding a cysteine-rich region."
    Hatzinikolas G., Gibson M.A.
    J. Biol. Chem. 273:29309-29314(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
  3. Li H., Cao L., Zhou G., Shen C., Zhong G., Yu R., Lin L., Yang S.
    Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Tongue.
  5. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Skeletal muscle.
  8. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-79.
    Tissue: Liver.
  9. "Human urinary glycoproteomics; attachment site specific analysis of N-and O-linked glycosylations by CID and ECD."
    Halim A., Nilsson J., Ruetschi U., Hesse C., Larson G.
    Mol. Cell. Proteomics 0:0-0(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT THR-54, STRUCTURE OF CARBOHYDRATES, IDENTIFICATION BY MASS SPECTROMETRY.
  10. "MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections."
    Barbier M., Gross M.S., Aubart M., Hanna N., Kessler K., Guo D.C., Tosolini L., Ho-Tin-Noe B., Regalado E., Varret M., Abifadel M., Milleron O., Odent S., Dupuis-Girod S., Faivre L., Edouard T., Dulac Y., Busa T.
    , Gouya L., Milewicz D.M., Jondeau G., Boileau C.
    Am. J. Hum. Genet. 95:736-743(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN AAT9, VARIANT AAT9 LEU-21, CHARACTERIZATION OF VARIANT AAT9 LEU-21.
  11. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASP-61.

Entry informationi

Entry nameiMFAP5_HUMAN
AccessioniPrimary (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: July 22, 2015
This is version 114 of the entry and version 1 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 12
    Human chromosome 12: 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

External Data

Dasty 3

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 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.