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

Gene ID: 9848, updated on 4-Jul-2021

Summary

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
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
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

See MFAP3L in Genome Data Viewer
Location:
4q33
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (169986602..170028741, complement)
105.20201022 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 chloride nucleotide-sensitive channel 1A pseudogene Neighboring gene uncharacterized LOC105377530 Neighboring gene long intergenic non-protein coding RNA 2275 Neighboring gene uncharacterized LOC101928198 Neighboring gene uncharacterized LOC107986326 Neighboring gene aminoadipate aminotransferase

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

Phenotypes

Associated conditions

Description Tests
Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001009554.4NP_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:236
    Ig; Immunoglobulin domain
  2. NM_001301647.2NP_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:236
    Ig; Immunoglobulin domain
  3. NM_001301648.2NP_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:236
    Ig; Immunoglobulin domain
  4. NM_021647.8NP_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
    O75121
    Related
    ENSP00000354583.3, ENST00000361618.4
    Conserved Domains (1) summary
    pfam13927
    Location:47129
    Ig_3; Immunoglobulin domain

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    169986602..170028741 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017008870.2XP_016864359.1  microfibrillar-associated protein 3-like isoform X3

    UniProtKB/Swiss-Prot
    O75121
    Conserved Domains (1) summary
    pfam13927
    Location:47129
    Ig_3; Immunoglobulin domain
  3. XM_017008865.2XP_016864354.1  microfibrillar-associated protein 3-like isoform X2

  4. XM_017008869.2XP_016864358.1  microfibrillar-associated protein 3-like isoform X3

    UniProtKB/Swiss-Prot
    O75121
    Conserved Domains (1) summary
    pfam13927
    Location:47129
    Ig_3; Immunoglobulin domain
  5. XM_017008864.2XP_016864353.1  microfibrillar-associated protein 3-like isoform X2

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

    Conserved Domains (1) summary
    smart00409
    Location:88175
    IG; Immunoglobulin
  7. XM_017008866.1XP_016864355.1  microfibrillar-associated protein 3-like isoform X2

  8. XM_017008868.1XP_016864357.1  microfibrillar-associated protein 3-like isoform X3

    UniProtKB/Swiss-Prot
    O75121
    Conserved Domains (1) summary
    pfam13927
    Location:47129
    Ig_3; Immunoglobulin domain
  9. XM_017008871.1XP_016864360.1  microfibrillar-associated protein 3-like isoform X3

    UniProtKB/Swiss-Prot
    O75121
    Conserved Domains (1) summary
    pfam13927
    Location:47129
    Ig_3; Immunoglobulin domain
  10. XM_005263368.3XP_005263425.1  microfibrillar-associated protein 3-like isoform X4

    See identical proteins and their annotated locations for XP_005263425.1

    UniProtKB/Swiss-Prot
    O75121
    Conserved Domains (1) summary
    cd00096
    Location:236
    Ig; Immunoglobulin domain
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