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    MFAP1 microfibril associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 4236, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MFAP1provided by HGNC
    Official Full Name
    microfibril associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:7032
    See related
    Ensembl:ENSG00000140259 MIM:600215; AllianceGenome:HGNC:7032
    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
    Also known as
    AMP
    Summary
    Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in centrosome; microfibril; and nucleoplasm. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 15.2), testis (RPKM 14.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MFAP1 in Genome Data Viewer
    Location:
    15q15.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43804492..43824690, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41611854..41632052, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (44096690..44116888, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SERF2-C15orf63 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44085666-44086519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44087241-44087742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44087743-44088242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44091515-44092215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44092216-44092916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9330 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:44104820-44106019 Neighboring gene small EDRK-rich factor 2 Neighboring gene serine incorporator 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:44116704-44117335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6390 Neighboring gene huntingtin interacting protein K Neighboring gene WD repeat domain 76 Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 4 pseudogene 1 Neighboring gene FERM domain containing 5

    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 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. Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21. Yeh H, et al. Genomics, 1994 Sep 15. PMID 7835894
    2. Characterization of an associated microfibril protein through recombinant DNA techniques. Horrigan SK, et al. J Biol Chem, 1992 May 15. PMID 1374398
    3. Depletion of the MFAP1/SPP381 Splicing Factor Causes R-Loop-Independent Genome Instability. Salas-Armenteros I, et al. Cell Rep, 2019 Aug 6. PMID 31390568, Free PMC Article
    4. Human MFAP1 is a cryptic ortholog of the Saccharomyces cerevisiae Spp381 splicing factor. Ulrich AK, et al. BMC Evol Biol, 2017 Mar 24. PMID 28335716, Free PMC Article
    5. CRL7(SMU1) E3 ligase complex-driven H2B ubiquitylation functions in sister chromatid cohesion by regulating SMC1 expression. Shah VJ, et al. J Cell Sci, 2018 Apr 26. PMID 29507117, Free PMC Article

    See all (112) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Depletion of the MFAP1/SPP381 Splicing Factor Causes R-Loop-Independent Genome Instability.
      Title: Depletion of the MFAP1/SPP381 Splicing Factor Causes R-Loop-Independent Genome Instability.
    2. Study identified the human B-specific protein MFAP1 as a putative ortholog of the S. cerevisiae tri-snRNP protein Spp381. In vitro binding studies showed that human MFAP1 and yeast Spp381 bind their respective Prp38 proteins via equivalent interfaces and that they cross-interact with the Prp38 proteins of the respective other species.
      Title: Human MFAP1 is a cryptic ortholog of the Saccharomyces cerevisiae Spp381 splicing factor.
    3. 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.
    4. 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

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, microfibrillar-associated protein 1 (MFAP1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with MFAP1 is increased by RRE PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of U2-type precatalytic spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2-type spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in microfibril IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    microfibrillar-associated protein 1
    Names
    microfibrillar associated protein 1
    spliceosome B complex protein MFAP1

    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_005926.3 → NP_005917.2  microfibrillar-associated protein 1

      See identical proteins and their annotated locations for NP_005917.2

      Status: VALIDATED

      Source sequence(s)
      AC018512, BC050742, BF981568
      Consensus CDS
      CCDS10105.1
      UniProtKB/Swiss-Prot
      P55081, Q86TG6
      Related
      ENSP00000267812.3, ENST00000267812.4
      Conserved Domains (1) summary
      pfam06991
      Location:190 → 399
      MFAP1; Microfibril-associated/Pre-mRNA processing

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      43804492..43824690 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      41611854..41632052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55081.2 GenPept UniProtKB/Swiss-Prot:P55081

    Gene LinkOut

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

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