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MFAP4 microfibril associated protein 4 [ Homo sapiens (human) ]

Gene ID: 4239, updated on 16-Aug-2021

Summary

Official Symbol
MFAP4provided by HGNC
Official Full Name
microfibril associated protein 4provided by HGNC
Primary source
HGNC:HGNC:7035
See related
Ensembl:ENSG00000166482 MIM:600596
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
Summary
This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Expression
Broad expression in gall bladder (RPKM 378.1), lung (RPKM 320.6) and 18 other tissues See more
Orthologs
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Genomic context

See MFAP4 in Genome Data Viewer
Location:
17p11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (19383445..19387190, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19286758..19290503, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene B9 domain containing 1 Neighboring gene microRNA 1180 Neighboring gene uncharacterized LOC105371573 Neighboring gene mitogen-activated protein kinase 7 Neighboring gene ring finger protein 112 Neighboring gene uncharacterized LOC105371574 Neighboring gene long intergenic non-protein coding RNA 2094

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables antigen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables carbohydrate derivative binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in UV protection IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to UV-B IDA
Inferred from Direct Assay
more info
PubMed 
involved_in complement activation, lectin pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in elastic fiber assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in elastic fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of collagen metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in supramolecular fiber organization IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
microfibril-associated glycoprotein 4
Names
microfibrillar associated protein 4

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.

Genomic

  1. NG_027952.1 RefSeqGene

    Range
    5030..8775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001198695.2NP_001185624.1  microfibril-associated glycoprotein 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001185624.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC124066, AK293056, AK304528, BQ017631
    Consensus CDS
    CCDS56023.1
    UniProtKB/Swiss-Prot
    P55083
    UniProtKB/TrEMBL
    A0A024QZ34
    Related
    ENSP00000378957.2, ENST00000395592.6
    Conserved Domains (1) summary
    cd00087
    Location:60278
    FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
  2. NM_002404.3NP_002395.1  microfibril-associated glycoprotein 4 isoform 2 precursor

    See identical proteins and their annotated locations for NP_002395.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC124066, AK293056, BQ017631
    Consensus CDS
    CCDS11208.1
    UniProtKB/Swiss-Prot
    P55083
    Related
    ENSP00000299610.5, ENST00000299610.5
    Conserved Domains (1) summary
    cd00087
    Location:36254
    FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    19383445..19387190 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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