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Protein

Microfibril-associated glycoprotein 4

Gene

MFAP4

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

Functioni

Could be involved in calcium-dependent cell adhesion or intercellular interactions. May contribute to the elastic fiber assembly and/or maintenance (PubMed:26601954).1 Publication

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • cellular response to UV-B Source: BHF-UCL
  • elastic fiber assembly Source: BHF-UCL
  • extracellular fibril organization Source: BHF-UCL
  • regulation of collagen metabolic process Source: BHF-UCL
  • UV protection Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166482-MONOMER.
ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.

Names & Taxonomyi

Protein namesi
Recommended name:
Microfibril-associated glycoprotein 4
Gene namesi
Name:MFAP4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:7035. MFAP4.

Subcellular locationi

GO - Cellular componenti

  • elastic fiber Source: BHF-UCL
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: UniProtKB
  • extracellular region Source: BHF-UCL
  • microfibril Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi203S → A: No effect on its interaction with COL1A1 and ELN. 1 Publication1
Mutagenesisi203S → Y: Moderate reduction in its interaction with COL1A1. Significant reduction in its interaction with ELN. 1 Publication1
Mutagenesisi241F → A: Significant reduction in its interaction with COL1A1 and ELN. 1 Publication1
Mutagenesisi241F → W: Significant reduction in its interaction with COL1A1 and ELN. 1 Publication1

Organism-specific databases

DisGeNETi4239.
OpenTargetsiENSG00000166482.
PharmGKBiPA30771.

Polymorphism and mutation databases

BioMutaiMFAP4.
DMDMi2506403.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 211 PublicationAdd BLAST21
ChainiPRO_000000913422 – 255Microfibril-associated glycoprotein 4Add BLAST234

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi87N-linked (GlcNAc...)1 Publication1
Glycosylationi137N-linked (GlcNAc...)2 Publications1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP55083.
PeptideAtlasiP55083.
PRIDEiP55083.

PTM databases

iPTMnetiP55083.
PhosphoSitePlusiP55083.

Expressioni

Gene expression databases

BgeeiENSG00000166482.
CleanExiHS_MFAP4.
ExpressionAtlasiP55083. baseline and differential.
GenevisibleiP55083. HS.

Organism-specific databases

HPAiHPA054097.

Interactioni

Subunit structurei

Homodimer. Can also form higher oligomers. Interacts with FBN1, FBN2 and LOX. Interacts with COL1A1 in a Ca (2+)-dependent manner. Interacts with ELN in a Ca (2+)-dependent manner; this interaction promotes ELN self-assembly (PubMed:26601954).1 Publication

Protein-protein interaction databases

BioGridi110397. 7 interactors.
IntActiP55083. 3 interactors.
STRINGi9606.ENSP00000378957.

Structurei

3D structure databases

ProteinModelPortaliP55083.
SMRiP55083.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini32 – 255Fibrinogen C-terminalPROSITE-ProRule annotationAdd BLAST224

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi26 – 28Cell attachment siteSequence analysis3

Sequence similaritiesi

Contains 1 fibrinogen C-terminal domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2579. Eukaryota.
ENOG410ZYS4. LUCA.
GeneTreeiENSGT00830000128240.
HOGENOMiHOG000037127.
HOVERGENiHBG001644.
InParanoidiP55083.
PhylomeDBiP55083.
TreeFamiTF336658.

Family and domain databases

CDDicd00087. FReD. 1 hit.
Gene3Di3.90.215.10. 1 hit.
4.10.530.10. 1 hit.
InterProiIPR014716. Fibrinogen_a/b/g_C_1.
IPR014715. Fibrinogen_a/b/g_C_2.
IPR002181. Fibrinogen_a/b/g_C_dom.
[Graphical view]
PfamiPF00147. Fibrinogen_C. 1 hit.
[Graphical view]
SMARTiSM00186. FBG. 1 hit.
[Graphical view]
SUPFAMiSSF56496. SSF56496. 1 hit.
PROSITEiPS51406. FIBRINOGEN_C_2. 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: P55083-1) [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
MKALLALPLL LLLSTPPCAP QVSGIRGDAL ERFCLQQPLD CDDIYAQGYQ
60 70 80 90 100
SDGVYLIYPS GPSVPVPVFC DMTTEGGKWT VFQKRFNGSV SFFRGWNDYK
110 120 130 140 150
LGFGRADGEY WLGLQNMHLL TLKQKYELRV DLEDFENNTA YAKYADFSIS
160 170 180 190 200
PNAVSAEEDG YTLFVAGFED GGAGDSLSYH SGQKFSTFDR DQDLFVQNCA
210 220 230 240 250
ALSSGAFWFR SCHFANLNGF YLGGSHLSYA NGINWAQWKG FYYSLKRTEM

KIRRA
Length:255
Mass (Da):28,648
Last modified:November 1, 1997 - v2
Checksum:iB8F0B47AC694435E
GO
Isoform 2 (identifier: P55083-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2: MK → MGELSPLQRPLATEGTMKAQGVLLKL

Note: No experimental confirmation available.
Show »
Length:279
Mass (Da):31,153
Checksum:i1B9BF3D8F578B0F8
GO

Sequence cautioni

The sequence AAB00968 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAG65329 differs from that shown. Reason: Erroneous termination at position 256. Translated as stop.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti69F → S in BAG65329 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069073173A → V.1 PublicationCorresponds to variant rs17855749dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0458311 – 2MK → MGELSPLQRPLATEGTMKAQ GVLLKL in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L38486 mRNA. Translation: AAB00968.1. Different initiation.
AK293056 mRNA. Translation: BAF85745.1.
AK304528 mRNA. Translation: BAG65329.1. Different termination.
AC124066 Genomic DNA. No translation available.
CH471212 Genomic DNA. Translation: EAW50888.1.
CH471212 Genomic DNA. Translation: EAW50889.1.
BC062415 mRNA. Translation: AAH62415.1.
CCDSiCCDS11208.1. [P55083-1]
CCDS56023.1. [P55083-2]
RefSeqiNP_001185624.1. NM_001198695.1. [P55083-2]
NP_002395.1. NM_002404.2. [P55083-1]
UniGeneiHs.296049.

Genome annotation databases

EnsembliENST00000299610; ENSP00000299610; ENSG00000166482. [P55083-1]
ENST00000395592; ENSP00000378957; ENSG00000166482. [P55083-2]
GeneIDi4239.
KEGGihsa:4239.
UCSCiuc002gvs.4. human. [P55083-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L38486 mRNA. Translation: AAB00968.1. Different initiation.
AK293056 mRNA. Translation: BAF85745.1.
AK304528 mRNA. Translation: BAG65329.1. Different termination.
AC124066 Genomic DNA. No translation available.
CH471212 Genomic DNA. Translation: EAW50888.1.
CH471212 Genomic DNA. Translation: EAW50889.1.
BC062415 mRNA. Translation: AAH62415.1.
CCDSiCCDS11208.1. [P55083-1]
CCDS56023.1. [P55083-2]
RefSeqiNP_001185624.1. NM_001198695.1. [P55083-2]
NP_002395.1. NM_002404.2. [P55083-1]
UniGeneiHs.296049.

3D structure databases

ProteinModelPortaliP55083.
SMRiP55083.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110397. 7 interactors.
IntActiP55083. 3 interactors.
STRINGi9606.ENSP00000378957.

PTM databases

iPTMnetiP55083.
PhosphoSitePlusiP55083.

Polymorphism and mutation databases

BioMutaiMFAP4.
DMDMi2506403.

Proteomic databases

PaxDbiP55083.
PeptideAtlasiP55083.
PRIDEiP55083.

Protocols and materials databases

DNASUi4239.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299610; ENSP00000299610; ENSG00000166482. [P55083-1]
ENST00000395592; ENSP00000378957; ENSG00000166482. [P55083-2]
GeneIDi4239.
KEGGihsa:4239.
UCSCiuc002gvs.4. human. [P55083-1]

Organism-specific databases

CTDi4239.
DisGeNETi4239.
GeneCardsiMFAP4.
HGNCiHGNC:7035. MFAP4.
HPAiHPA054097.
MIMi600596. gene.
neXtProtiNX_P55083.
OpenTargetsiENSG00000166482.
PharmGKBiPA30771.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2579. Eukaryota.
ENOG410ZYS4. LUCA.
GeneTreeiENSGT00830000128240.
HOGENOMiHOG000037127.
HOVERGENiHBG001644.
InParanoidiP55083.
PhylomeDBiP55083.
TreeFamiTF336658.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166482-MONOMER.
ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.

Miscellaneous databases

ChiTaRSiMFAP4. human.
GenomeRNAii4239.
PROiP55083.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166482.
CleanExiHS_MFAP4.
ExpressionAtlasiP55083. baseline and differential.
GenevisibleiP55083. HS.

Family and domain databases

CDDicd00087. FReD. 1 hit.
Gene3Di3.90.215.10. 1 hit.
4.10.530.10. 1 hit.
InterProiIPR014716. Fibrinogen_a/b/g_C_1.
IPR014715. Fibrinogen_a/b/g_C_2.
IPR002181. Fibrinogen_a/b/g_C_dom.
[Graphical view]
PfamiPF00147. Fibrinogen_C. 1 hit.
[Graphical view]
SMARTiSM00186. FBG. 1 hit.
[Graphical view]
SUPFAMiSSF56496. SSF56496. 1 hit.
PROSITEiPS51406. FIBRINOGEN_C_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMFAP4_HUMAN
AccessioniPrimary (citable) accession number: P55083
Secondary accession number(s): A8KAJ1
, A8MVM2, B4E317, Q6P680
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 1, 1997
Last modified: November 30, 2016
This is version 138 of the entry and version 2 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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.