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    FAM89B family with sequence similarity 89 member B [ Homo sapiens (human) ]

    Gene ID: 23625, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FAM89Bprovided by HGNC
    Official Full Name
    family with sequence similarity 89 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:16708
    See related
    Ensembl:ENSG00000176973 MIM:616128; AllianceGenome:HGNC:16708
    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
    MTVR; MTVR1; LRAP25
    Summary
    Predicted to enable transcription corepressor binding activity. Predicted to be involved in establishment of cell polarity; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and positive regulation of cell migration. Predicted to be located in cell projection. Predicted to be active in cytoplasm and lamellipodium. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 17.3), prostate (RPKM 15.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM89B in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65572538..65574190)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65566770..65568422)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65340009..65341661)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4989 Neighboring gene ZNRD2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3539 Neighboring gene zinc ribbon domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3543 Neighboring gene Sharpr-MPRA regulatory region 14514 Neighboring gene EH domain binding protein 1 like 1 Neighboring gene uncharacterized LOC124902692 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:65355424-65355944 and GRCh37_chr11:65355945-65356464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65356597-65357098 Neighboring gene potassium two pore domain channel subfamily K member 7

    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. Identification of human homologues of the mouse mammary tumor virus receptor. Stewart AF. Arch Virol, 2002 Mar. PMID 11958456
    2. Novel related cDNAs (C184L, C184M, and C184S) from developing mouse brain encoding two apparently unrelated proteins. Sakuma-Takagi M, et al. Biochem Biophys Res Commun, 1999 Oct 5. PMID 10512749
    3. A novel membrane protein is a mouse mammary tumor virus receptor. Golovkina TV, et al. J Virol, 1998 Apr. PMID 9525630, Free PMC Article
    4. Adaptor protein LRAP25 mediates myotonic dystrophy kinase-related Cdc42-binding kinase (MRCK) regulation of LIMK1 protein in lamellipodial F-actin dynamics. Lee ICJ, et al. J Biol Chem, 2014 Sep 26. PMID 25107909, Free PMC Article
    5. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the functional relevance of the LRAP25-MRCK complex in LIMK1-cofilin signaling and the importance of LRAP adaptors as key determinants of MRCK cellular localization and downstream specificities.
      Title: Adaptor protein LRAP25 mediates myotonic dystrophy kinase-related Cdc42-binding kinase (MRCK) regulation of LIMK1 protein in lamellipodial F-actin dynamics.
    2. identified two human genes, Mtvr1 and Mtvr2, encoding proteins highly related to the Mouse Mammary Tumor Virus receptor [Mtvr1] [Mtvr2]
      Title: Identification of human homologues of the mouse mammary tumor virus receptor.
    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 association study identifies three novel susceptibility loci for severe Acne vulgaris.
    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 transcription corepressor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription corepressor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in establishment of cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of cell polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    leucine repeat adapter protein 25
    Names
    leucine repeat adaptor protein 25
    mammary tumor virus receptor homolog 1
    protein FAM89B

    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_001098784.2 → NP_001092254.1  leucine repeat adapter protein 25 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the coding region, compared to variant 1, that results in a frameshift. It encodes isoform 3 which has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC032373, DR001553
      Consensus CDS
      CCDS44648.1
      UniProtKB/Swiss-Prot
      Q8N5H3
      Related
      ENSP00000402439.2, ENST00000449319.2

    2. NM_001098785.2 → NP_001092255.1  leucine repeat adapter protein 25 isoform 1

      See identical proteins and their annotated locations for NP_001092255.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC032373, BE394215
      Consensus CDS
      CCDS53662.1
      UniProtKB/Swiss-Prot
      E9PB01, E9PL72, Q6PJ27, Q8N5H3
      Related
      ENSP00000431459.1, ENST00000530349.2

    3. NM_152832.3 → NP_690045.1  leucine repeat adapter protein 25 isoform 2

      See identical proteins and their annotated locations for NP_690045.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      BC032373
      Consensus CDS
      CCDS8105.1
      UniProtKB/Swiss-Prot
      Q8N5H3
      Related
      ENSP00000314829.2, ENST00000316409.2

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      65572538..65574190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65566770..65568422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5H3.2 GenPept UniProtKB/Swiss-Prot:Q8N5H3

    Gene LinkOut

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

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