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MFAP3 microfibril associated protein 3 [ Homo sapiens (human) ]

Gene ID: 4238, updated on 5-Mar-2024

Summary

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Official Symbol
MFAP3provided by HGNC
Official Full Name
microfibril associated protein 3provided by HGNC
Primary source
HGNC:HGNC:7034
See related
Ensembl:ENSG00000037749 MIM:600491; AllianceGenome:HGNC:7034
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Ubiquitous expression in placenta (RPKM 9.1), urinary bladder (RPKM 9.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
5q33.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (154038967..154057450)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (154572102..154590586)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (153418527..153437010)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107983980 Neighboring gene family with sequence similarity 114 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23472 Neighboring gene NANOG hESC enhancer GRCh37_chr5:153465203-153465708 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153486570-153487566 Neighboring gene Sharpr-MPRA regulatory region 747 Neighboring gene uncharacterized LOC124901118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153568703-153569668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16535 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:153582451-153582951 Neighboring gene uncharacterized LOC107986465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153598352-153598858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153598859-153599363 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genome-wide association of BMI in African Americans. Ng MC, et al. Obesity (Silver Spring), 2012 Mar. PMID 21701570, Free PMC Article
  2. Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2. Abrams WR, et al. Genomics, 1995 Mar 1. PMID 7782085
  3. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. Chen Z, et al. Mol Cell Proteomics, 2020 Mar. PMID 31900314, Free PMC Article
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Gupta GD, et al. Cell, 2015 Dec 3. PMID 26638075, Free PMC Article
  5. Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms. Bagci H, et al. Nat Cell Biol, 2020 Jan. PMID 31871319

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of BMI in African Americans.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp586F0219

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables MHC class II protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein tyrosine kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in T cell activation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in interleukin-15-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of ERK1 and ERK2 cascade IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
microfibril-associated glycoprotein 3
Names
microfibrillar associated protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001135037.2 → NP_001128509.1  microfibril-associated glycoprotein 3 isoform 2

    See identical proteins and their annotated locations for NP_001128509.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal exon and uses a downstream start codon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC022088, AK296468
    Consensus CDS
    CCDS47319.1
    UniProtKB/Swiss-Prot
    P55082
    Related
    ENSP00000414219.2, ENST00000439768.2

  2. NM_001242336.2 → NP_001229265.1  microfibril-associated glycoprotein 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001229265.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AC010232, AC022088
    Consensus CDS
    CCDS4324.1
    UniProtKB/Swiss-Prot
    B2RDK0, B4DKA1, P55082, Q9NXA7
    Related
    ENSP00000322956.5, ENST00000322602.9
    Conserved Domains (2) summary
    smart00408
    Location:65 → 130
    IGc2; Immunoglobulin C-2 Type
    cl24079
    Location:157 → 273
    Helo_like_N; Fungal N-terminal domain of STAND proteins

  3. NM_005927.5 → NP_005918.1  microfibril-associated glycoprotein 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_005918.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AC022088, AK296468, CB994356
    Consensus CDS
    CCDS4324.1
    UniProtKB/Swiss-Prot
    B2RDK0, B4DKA1, P55082, Q9NXA7
    Related
    ENSP00000430852.2, ENST00000522782.6
    Conserved Domains (2) summary
    smart00408
    Location:65 → 130
    IGc2; Immunoglobulin C-2 Type
    cl24079
    Location:157 → 273
    Helo_like_N; Fungal N-terminal domain of STAND proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    154038967..154057450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    154572102..154590586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P55082.1 GenPept UniProtKB/Swiss-Prot:P55082

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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