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

Gene ID: 9848, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in kidney (RPKM 7.1), brain (RPKM 6.1) and 14 other tissues See more
Orthologs
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Genomic context

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Location:
4q33
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (169986602..170027277, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (173346787..173390228, complement)
105.20220307 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
  • 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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 
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_2023_10

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

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