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    MFAP3L microfibril associated protein 3 like [ Homo sapiens (human) ]

    Gene ID: 9848, updated on 14-Nov-2024

    Summary

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    Official Symbol
    MFAP3Lprovided by HGNC
    Official Full Name
    microfibril associated protein 3 likeprovided by HGNC
    Primary source
    HGNC:HGNC:29083
    See related
    Ensembl:ENSG00000198948 MIM:616523; AllianceGenome:HGNC:29083
    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
    NYD-sp9
    Summary
    Located in several cellular components, including cell junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in kidney (RPKM 7.1), brain (RPKM 6.1) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MFAP3L in Genome Data Viewer
    Location:
    4q33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (169986602..170027277, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (173346787..173390228, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (170907753..170947546, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900810 Neighboring gene uncharacterized LOC105377530 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:170840189-170840734 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:170840735-170841282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:170845115-170845639 Neighboring gene long intergenic non-protein coding RNA 2275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:170897057-170897800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:170947923-170948642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22146 Neighboring gene uncharacterized LOC101928198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:170966616-170967155 Neighboring gene uncharacterized LOC107986326 Neighboring gene aminoadipate aminotransferase

    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. MFAP3L activation promotes colorectal cancer cell invasion and metastasis. Lou X, et al. Biochim Biophys Acta, 2014 Sep. PMID 24735981
    2. Genome-wide and gene-based association studies of anxiety disorders in European and African American samples. Otowa T, et al. PLoS One, 2014. PMID 25390645, Free PMC Article
    3. High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2. Cappella M, et al. Cell Death Dis, 2018 Jun 28. PMID 29955039, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Ishikawa K, et al. DNA Res, 1998 Jun 30. PMID 9734811
    5. Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV. Stukalov A, et al. Nature, 2021 Jun. PMID 33845483

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MFAP3L activation promotes colorectal cancer cell invasion and metastasis.
      Title: MFAP3L activation promotes colorectal cancer cell invasion and metastasis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.
    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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    microfibrillar-associated protein 3-like
    Names
    microfi brillar-associated protein 3-like
    microfibrillar associated protein 3 like
    testis development protein NYD-SP9

    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_001009554.4 → NP_001009554.1  microfibrillar-associated protein 3-like isoform 2

      See identical proteins and their annotated locations for NP_001009554.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
      Source sequence(s)
      AB014526, AF327560, BI459190
      Consensus CDS
      CCDS43281.1
      UniProtKB/Swiss-Prot
      O75121
      Related
      ENSP00000377307.3, ENST00000393704.3
      Conserved Domains (1) summary
      cd00096
      Location:2 → 36
      Ig; Immunoglobulin domain

    2. NM_001301647.2 → NP_001288576.1  microfibrillar-associated protein 3-like isoform 2

      See identical proteins and their annotated locations for NP_001288576.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
      Source sequence(s)
      AB014526, DA324165, DA412844
      Consensus CDS
      CCDS43281.1
      UniProtKB/Swiss-Prot
      O75121
      Conserved Domains (1) summary
      cd00096
      Location:2 → 36
      Ig; Immunoglobulin domain

    3. NM_001301648.2 → NP_001288577.1  microfibrillar-associated protein 3-like isoform 2

      See identical proteins and their annotated locations for NP_001288577.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
      Source sequence(s)
      AB014526, BI459190, DB026038
      Consensus CDS
      CCDS43281.1
      UniProtKB/Swiss-Prot
      O75121
      Conserved Domains (1) summary
      cd00096
      Location:2 → 36
      Ig; Immunoglobulin domain

    4. NM_021647.8 → NP_067679.6  microfibrillar-associated protein 3-like isoform 1 precursor

      See identical proteins and their annotated locations for NP_067679.6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB014526, DA324165
      Consensus CDS
      CCDS34103.1
      UniProtKB/Swiss-Prot
      A8K1X6, D3DP35, O75121, Q4W5N7, Q4W5N9, Q6TNA8, Q9BVE1, Q9BXK0
      Related
      ENSP00000354583.3, ENST00000361618.4
      Conserved Domains (1) summary
      pfam13927
      Location:47 → 129
      Ig_3; Immunoglobulin domain

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      169986602..170027277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416460.1 → XP_047272416.1  microfibrillar-associated protein 3-like isoform X3

      UniProtKB/Swiss-Prot
      A8K1X6, D3DP35, O75121, Q4W5N7, Q4W5N9, Q6TNA8, Q9BVE1, Q9BXK0

    2. XM_017008867.3 → XP_016864356.1  microfibrillar-associated protein 3-like isoform X2

    3. XM_017008865.3 → XP_016864354.1  microfibrillar-associated protein 3-like isoform X2

    4. XM_017008864.3 → XP_016864353.1  microfibrillar-associated protein 3-like isoform X2

    5. XM_017008871.2 → XP_016864360.1  microfibrillar-associated protein 3-like isoform X3

      UniProtKB/Swiss-Prot
      A8K1X6, D3DP35, O75121, Q4W5N7, Q4W5N9, Q6TNA8, Q9BVE1, Q9BXK0
      Conserved Domains (1) summary
      pfam13927
      Location:47 → 129
      Ig_3; Immunoglobulin domain

    6. XM_005263366.4 → XP_005263423.1  microfibrillar-associated protein 3-like isoform X1

      Conserved Domains (1) summary
      smart00409
      Location:88 → 175
      IG; Immunoglobulin

    7. XM_017008866.2 → XP_016864355.1  microfibrillar-associated protein 3-like isoform X2

    8. XM_047416459.1 → XP_047272415.1  microfibrillar-associated protein 3-like isoform X2

    9. XM_047416461.1 → XP_047272417.1  microfibrillar-associated protein 3-like isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      173346787..173390228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351330.1 → XP_054207305.1  microfibrillar-associated protein 3-like isoform X2

    2. XM_054351331.1 → XP_054207306.1  microfibrillar-associated protein 3-like isoform X2

    3. XM_054351332.1 → XP_054207307.1  microfibrillar-associated protein 3-like isoform X2

    4. XM_054351335.1 → XP_054207310.1  microfibrillar-associated protein 3-like isoform X3

      UniProtKB/Swiss-Prot
      A8K1X6, D3DP35, O75121, Q4W5N7, Q4W5N9, Q6TNA8, Q9BVE1, Q9BXK0

    5. XM_054351328.1 → XP_054207303.1  microfibrillar-associated protein 3-like isoform X1

    6. XM_054351329.1 → XP_054207304.1  microfibrillar-associated protein 3-like isoform X2

    7. XM_054351333.1 → XP_054207308.1  microfibrillar-associated protein 3-like isoform X2

    8. XM_054351334.1 → XP_054207309.1  microfibrillar-associated protein 3-like isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75121.3 GenPept UniProtKB/Swiss-Prot:O75121

    Gene LinkOut

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