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

Gene ID: 4238, updated on 11-Jun-2021

Summary

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
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
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

See MFAP3 in Genome Data Viewer
Location:
5q33.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (154038967..154057450)
105.20201022 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 uncharacterized LOC107986465 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 10 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 7

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586F0219

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001135037.2NP_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_001242336.2NP_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
    P55082
    Related
    ENSP00000322956.5, ENST00000322602.9
    Conserved Domains (2) summary
    smart00408
    Location:65130
    IGc2; Immunoglobulin C-2 Type
    cl24079
    Location:157273
    Helo_like_N; Fungal N-terminal domain of STAND proteins
  3. NM_005927.5NP_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
    P55082
    Related
    ENSP00000430852.2, ENST00000522782.6
    Conserved Domains (2) summary
    smart00408
    Location:65130
    IGc2; Immunoglobulin C-2 Type
    cl24079
    Location:157273
    Helo_like_N; Fungal N-terminal domain of STAND proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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