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Protein

Microfibril-associated glycoprotein 3

Gene

MFAP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Component of the elastin-associated microfibrils.

Enzyme and pathway databases

ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.

Names & Taxonomyi

Protein namesi
Recommended name:
Microfibril-associated glycoprotein 3
Gene namesi
Name:MFAP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:7034. MFAP3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 147129ExtracellularSequence analysisAdd
BLAST
Transmembranei148 – 17023HelicalSequence analysisAdd
BLAST
Topological domaini171 – 362192CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30770.

Polymorphism and mutation databases

BioMutaiMFAP3.
DMDMi1709013.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence analysisAdd
BLAST
Chaini19 – 362344Microfibril-associated glycoprotein 3PRO_0000014865Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi36 – 361N-linked (GlcNAc...)Sequence analysis
Glycosylationi41 – 411N-linked (GlcNAc...)Sequence analysis
Disulfide bondi73 ↔ 124PROSITE-ProRule annotation
Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence analysis

Post-translational modificationi

Glycosylated.Curated

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP55082.
PaxDbiP55082.
PRIDEiP55082.

PTM databases

iPTMnetiP55082.
PhosphoSiteiP55082.

Expressioni

Gene expression databases

BgeeiP55082.
CleanExiHS_MFAP3.
ExpressionAtlasiP55082. baseline and differential.
GenevisibleiP55082. HS.

Organism-specific databases

HPAiHPA015883.
HPA049198.

Interactioni

Protein-protein interaction databases

BioGridi110396. 34 interactions.
IntActiP55082. 2 interactions.
STRINGi9606.ENSP00000322956.

Structurei

3D structure databases

ProteinModelPortaliP55082.
SMRiP55082. Positions 56-144.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini45 – 13793Ig-like C2-typeAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE5Z. Eukaryota.
ENOG410XPPH. LUCA.
GeneTreeiENSGT00390000011576.
HOGENOMiHOG000013030.
HOVERGENiHBG052463.
InParanoidiP55082.
OMAiWLVSDNF.
PhylomeDBiP55082.
TreeFamiTF333205.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013151. Immunoglobulin.
[Graphical view]
PfamiPF00047. ig. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 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: P55082-1) [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
MKLHCCLFTL VASIIVPAAF VLEDVDFDQM VSLEANRSSY NASFPSSFEL
60 70 80 90 100
SASSHSDDDV IIAKEGTSVS IECLLTASHY EDVHWHNSKG QQLDGRSRGG
110 120 130 140 150
KWLVSDNFLN ITNVAFDDRG LYTCFVTSPI RASYSVTLRV IFTSGDMSVY
160 170 180 190 200
YMIVCLIAFT ITLILNVTRL CMMSSHLRKT EKAINEFFRT EGAEKLQKAF
210 220 230 240 250
EIAKRIPIIT SAKTLELAKV TQFKTMEFAR YIEELARSVP LPPLILNCRA
260 270 280 290 300
FVEEMFEAVR VDDPDDLGER IKERPALNAQ GGIYVINPEM GRSNSPGGDS
310 320 330 340 350
DDGSLNEQGQ EIAVQVSVHL QSETKSIDTE SQGSSHFSPP DDIGSAESNC
360
NYKDGAYENC QL
Length:362
Mass (Da):40,165
Last modified:October 1, 1996 - v1
Checksum:iB99B176F1EC78785
GO
Isoform 2 (identifier: P55082-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-146: Missing.

Note: No experimental confirmation available.
Show »
Length:216
Mass (Da):24,076
Checksum:iCDDA1C19DC0D46A9
GO

Sequence cautioni

The sequence BAA91108.1 differs from that shown. Reason: Frameshift at position 238. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531S → G.1 Publication
VAR_069386

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 146146Missing in isoform 2. 1 PublicationVSP_042948Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L35251 Genomic DNA. Translation: AAC41753.1.
AK000358 mRNA. Translation: BAA91108.1. Frameshift.
AK296468 mRNA. Translation: BAG59113.1.
AK315573 mRNA. Translation: BAG37947.1.
AC008672 Genomic DNA. No translation available.
AC010232 Genomic DNA. No translation available.
AC010295 Genomic DNA. No translation available.
AC022088 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW61645.1.
BC026244 mRNA. Translation: AAH26244.1.
CCDSiCCDS4324.1. [P55082-1]
CCDS47319.1. [P55082-2]
PIRiA56745.
RefSeqiNP_001128509.1. NM_001135037.1. [P55082-2]
NP_001229265.1. NM_001242336.1. [P55082-1]
NP_005918.1. NM_005927.4. [P55082-1]
UniGeneiHs.432818.

Genome annotation databases

EnsembliENST00000322602; ENSP00000322956; ENSG00000037749. [P55082-1]
ENST00000439768; ENSP00000414219; ENSG00000037749. [P55082-2]
GeneIDi4238.
KEGGihsa:4238.
UCSCiuc003lvf.3. human. [P55082-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L35251 Genomic DNA. Translation: AAC41753.1.
AK000358 mRNA. Translation: BAA91108.1. Frameshift.
AK296468 mRNA. Translation: BAG59113.1.
AK315573 mRNA. Translation: BAG37947.1.
AC008672 Genomic DNA. No translation available.
AC010232 Genomic DNA. No translation available.
AC010295 Genomic DNA. No translation available.
AC022088 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW61645.1.
BC026244 mRNA. Translation: AAH26244.1.
CCDSiCCDS4324.1. [P55082-1]
CCDS47319.1. [P55082-2]
PIRiA56745.
RefSeqiNP_001128509.1. NM_001135037.1. [P55082-2]
NP_001229265.1. NM_001242336.1. [P55082-1]
NP_005918.1. NM_005927.4. [P55082-1]
UniGeneiHs.432818.

3D structure databases

ProteinModelPortaliP55082.
SMRiP55082. Positions 56-144.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110396. 34 interactions.
IntActiP55082. 2 interactions.
STRINGi9606.ENSP00000322956.

PTM databases

iPTMnetiP55082.
PhosphoSiteiP55082.

Polymorphism and mutation databases

BioMutaiMFAP3.
DMDMi1709013.

Proteomic databases

MaxQBiP55082.
PaxDbiP55082.
PRIDEiP55082.

Protocols and materials databases

DNASUi4238.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322602; ENSP00000322956; ENSG00000037749. [P55082-1]
ENST00000439768; ENSP00000414219; ENSG00000037749. [P55082-2]
GeneIDi4238.
KEGGihsa:4238.
UCSCiuc003lvf.3. human. [P55082-1]

Organism-specific databases

CTDi4238.
GeneCardsiMFAP3.
HGNCiHGNC:7034. MFAP3.
HPAiHPA015883.
HPA049198.
MIMi600491. gene.
neXtProtiNX_P55082.
PharmGKBiPA30770.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE5Z. Eukaryota.
ENOG410XPPH. LUCA.
GeneTreeiENSGT00390000011576.
HOGENOMiHOG000013030.
HOVERGENiHBG052463.
InParanoidiP55082.
OMAiWLVSDNF.
PhylomeDBiP55082.
TreeFamiTF333205.

Enzyme and pathway databases

ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.

Miscellaneous databases

ChiTaRSiMFAP3. human.
GenomeRNAii4238.
PROiP55082.
SOURCEiSearch...

Gene expression databases

BgeeiP55082.
CleanExiHS_MFAP3.
ExpressionAtlasiP55082. baseline and differential.
GenevisibleiP55082. HS.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013151. Immunoglobulin.
[Graphical view]
PfamiPF00047. ig. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2."
    Abrams W.R., Ma R.-I., Kucich U., Bashir M.M., Decker S., Tsipouras P., McPherson J.D., Wasmuth J.J., Rosenbloom J.
    Genomics 26:47-54(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Fibroblast.
  2. "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: Placenta.
  3. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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: Testis.
  6. Cited for: VARIANT GLY-53.

Entry informationi

Entry nameiMFAP3_HUMAN
AccessioniPrimary (citable) accession number: P55082
Secondary accession number(s): B2RDK0, B4DKA1, Q9NXA7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: June 8, 2016
This is version 145 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 5
    Human chromosome 5: 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.