MFAP3 - microfibril associated protein 3 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4238

About MFAP3

Cytogenetic location: 5q33.2 Genomic coordinates (GRCh38): 5:154,038,967-154,057,450 (from NCBI)

This gene has 14 transcripts (splice variants), 187 orthologues and 1 paralogue. Ubiquitous expression in placenta (RPKM 9.1), urinary bladder (RPKM 9.1) and 25 other tissues.

Summary

Predicted to be located in extracellular region. Predicted to be active in cytoplasm; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

MFAP3 Products (3)

mRNA Protein Name
NM_001135037.2 NP_001128509.1 microfibril-associated glycoprotein 3 isoform 2
NM_001242336.2 NP_001229265.1 microfibril-associated glycoprotein 3 isoform 1 precursor
NM_005927.5 NP_005918.1 microfibril-associated glycoprotein 3 isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MFAP3 Protein Structure

I-set

I-set: Immunoglobulin I-set domain (61 - 130)

  • 0
  • 100
  • 200
  • 300
  • 362 a.a.
Protein Preferred Names Protein Names

microfibril-associated glycoprotein 3

  • microfibrillar associated protein 3

MFAP3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MFAP3 P55082 GRIP1 Homo sapiens Q9Y3R0-3 32296183
Intra
MFAP3 P55082 GRIP1 Homo sapiens Q9Y3R0-3 32296183
Intra
MFAP3 P55082 GRIP1 Homo sapiens Q9Y3R0-3 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MFAP3 Proteins

Cat. No. Product Name Accession Purity
HY-P77085 MFAP3 Protein, Human (HEK293, Fc) P55082-1 (A19-M147) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Lutembacher'S Syndrome
  • Lutembacher Syndrome

  • Lutembacher'S Anomaly

Contractural Arachnodactyly, Congenital
  • Congenital Contractural Arachnodactyly

  • Beals Syndrome

  • CCA

  • Beals-Hecht Syndrome

  • Distal Arthrogryposis Type 9

  • Arthrogryposis, Distal, Type 9

  • Da9

  • Arachnodactyly, Contractural Beals Type

  • Contractures, Multiple With Arachnodactyly

  • Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis

  • Arthrogyroposis, Distal, Type 9

  • Distal Arthrogyropsis Type 9

  • Cca Syndrome

  • Arachnodactyly

Yellow Nail Syndrome
  • Yns

  • Lymphedema And Yellow Nails

  • Lymphedema With Yellow Nails

  • Lymphedema-Yellow Nails

  • LYYN

  • Hereditary Lymphedema And Yellow Nails

  • Hereditary Lymphoedema And Yellow Nails

Isolated Ectopia Lentis
  • Familial Ectopia Lentis

  • Ectopia Lentis

  • Ectopia Lentis Syndrome

  • Lens Subluxation

  • Iel

  • Congenital Ectopia Lentis

  • Subluxation Of Lens

  • Ectopia Lentis, Isolated

  • Ectopia Lentis Isolated

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus MFAP3 VGNC VGNC:68240
Bos taurus MFAP3 VGNC VGNC:50216
Macaca mulatta MFAP3 VGNC VGNC:74709
Rattus norvegicus MFAP3 RGD RGD:1359463
Canis familiaris MFAP3 VGNC VGNC:43188
Mus musculus MFAP3 MGD MGI:1924068
Others MFAP3 NCBI