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MFAP5 microfibril associated protein 5 [ Homo sapiens (human) ]

Gene ID: 8076, updated on 22-Feb-2020

Summary

Official Symbol
MFAP5provided by HGNC
Official Full Name
microfibril associated protein 5provided by HGNC
Primary source
HGNC:HGNC:29673
See related
Ensembl:ENSG00000197614 MIM:601103
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAT9; MP25; MAGP2; MAGP-2; MFAP-5
Summary
This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
Expression
Biased expression in fat (RPKM 53.2), endometrium (RPKM 51.6) and 11 other tissues See more
Orthologs

Genomic context

See MFAP5 in Genome Data Viewer
Location:
12p13.31
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (8645943..8662826, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8798540..8815433, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene activation induced cytidine deaminase Neighboring gene HADHA pseudogene 2 Neighboring gene Fanconi anemia core complex-associated protein 24-like Neighboring gene ribosomal modification protein rimK like family member B Neighboring gene ribosomal protein SA pseudogene 51

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
Process Evidence Code Pubs
definitive hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
supramolecular fiber organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
microfibril ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
microfibrillar-associated protein 5
Names
THE1A-MFAP5
microfibril-associated glycoprotein-2
microfibrillar associated protein 5

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_041814.1 RefSeqGene

    Range
    5063..21946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001297709.2NP_001284638.1  microfibrillar-associated protein 5 isoform b precursor

    See identical proteins and their annotated locations for NP_001284638.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AK299475, AL833019, DB247952
    Consensus CDS
    CCDS73437.1
    UniProtKB/Swiss-Prot
    Q13361
    UniProtKB/TrEMBL
    B3KW70
    Related
    ENSP00000379798.2, ENST00000396549.6
    Conserved Domains (1) summary
    pfam05507
    Location:33128
    MAGP; Microfibril-associated glycoprotein (MAGP)
  2. NM_001297710.2NP_001284639.1  microfibrillar-associated protein 5 isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the coding region compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AL833019, BX396041, DB247952
    Consensus CDS
    CCDS76522.1
    UniProtKB/TrEMBL
    B3KW70, F5GYX4
    Related
    ENSP00000441492.1, ENST00000543369.5
    Conserved Domains (1) summary
    pfam05507
    Location:21116
    MAGP; Microfibril-associated glycoprotein (MAGP)
  3. NM_001297711.2NP_001284640.1  microfibrillar-associated protein 5 isoform d precursor

    See identical proteins and their annotated locations for NP_001284640.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons in the coding region compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AL833019, DB247952
    Consensus CDS
    CCDS76523.1
    UniProtKB/TrEMBL
    B3KW70
    Related
    ENSP00000411997.2, ENST00000433590.6
    Conserved Domains (1) summary
    pfam05507
    Location:33113
    MAGP; Microfibril-associated glycoprotein (MAGP)
  4. NM_001297712.2NP_001284641.1  microfibrillar-associated protein 5 isoform e precursor

    See identical proteins and their annotated locations for NP_001284641.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks three alternate in-frame exons in the coding region compared to variant 1. The encoded isoform (e) is shorter than isoform a.
    Source sequence(s)
    AI494006, AK124368, AL833019, DA544968, DB247952
    Consensus CDS
    CCDS76524.1
    UniProtKB/TrEMBL
    B3KW70, F5H413
    Related
    ENSP00000438525.1, ENST00000535336.5
    Conserved Domains (1) summary
    pfam05507
    Location:1078
    MAGP; Microfibril-associated glycoprotein (MAGP)
  5. NM_003480.4NP_003471.1  microfibrillar-associated protein 5 isoform a precursor

    See identical proteins and their annotated locations for NP_003471.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AI494006, AK124368, AL833019, DB247952, U37283
    Consensus CDS
    CCDS8595.1
    UniProtKB/Swiss-Prot
    Q13361
    UniProtKB/TrEMBL
    B3KW70
    Related
    ENSP00000352455.2, ENST00000359478.7
    Conserved Domains (1) summary
    pfam05507
    Location:3138
    MAGP; Microfibril-associated glycoprotein (MAGP)

RNA

  1. NR_123733.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI494006, AK124368, AL833019, DB247952, DN996275
  2. NR_123734.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate internal exon, and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI494006, AK124368, AL833019, BU929788, DB247952

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    8645943..8662826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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