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    LRRC28 leucine rich repeat containing 28 [ Homo sapiens (human) ]

    Gene ID: 123355, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LRRC28provided by HGNC
    Official Full Name
    leucine rich repeat containing 28provided by HGNC
    Primary source
    HGNC:HGNC:28355
    See related
    Ensembl:ENSG00000168904 AllianceGenome:HGNC:28355
    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
    Summary
    Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.7), liver (RPKM 2.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC28 in Genome Data Viewer
    Location:
    15q26.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (99251481..99390729)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (97015255..97154521)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (99791686..99930934)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99640383-99641189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6865 Neighboring gene SYNM antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99676969-99677470 Neighboring gene synemin Neighboring gene TTC23 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:99694074-99694869 Neighboring gene tetratricopeptide repeat domain 23 Neighboring gene MPRA-validated peak2445 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99754475-99754975 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:99758119-99759318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6866 Neighboring gene heat shock protein 90 beta family member 2, pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 62 Neighboring gene MPRA-validated peak2447 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10151 Neighboring gene uncharacterized LOC105371017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99942299-99942818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99942819-99943336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99944293-99944794 Neighboring gene long intergenic non-protein coding RNA 2244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99949649-99950148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6867 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:99973380-99974579 Neighboring gene long intergenic non-protein coding RNA 3080

    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. ARIH2 Is a Vif-Dependent Regulator of CUL5-Mediated APOBEC3G Degradation in HIV Infection. Hüttenhain R, et al. Cell Host Microbe, 2019 Jul 10. PMID 31253590, Free PMC Article
    2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34269, FLJ45242, MGC24976

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 28

    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_001284400.3 → NP_001271329.1  leucine-rich repeat-containing protein 28 isoform 2

      See identical proteins and their annotated locations for NP_001271329.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC037479, AY358082, DA787321
      Consensus CDS
      CCDS66873.1
      Related
      ENSP00000404520.2, ENST00000447360.6
      Conserved Domains (2) summary
      sd00033
      Location:43 → 66
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:43 → 100
      LRR_8; Leucine rich repeat

    2. NM_001321675.2 → NP_001308604.1  leucine-rich repeat-containing protein 28 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC037479
      Consensus CDS
      CCDS10380.1
      UniProtKB/Swiss-Prot
      A8KA22, Q6UY49, Q6ZSS6, Q86X40
      Conserved Domains (2) summary
      sd00033
      Location:43 → 66
      LRR_RI; leucine-rich repeat [structural motif]
      cl26018
      Location:46 → 306
      NEL; C-terminal novel E3 ligase, LRR-interacting

    3. NM_001321676.2 → NP_001308605.1  leucine-rich repeat-containing protein 28 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC037479
      Conserved Domains (2) summary
      sd00033
      Location:43 → 66
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:43 → 100
      LRR_8; Leucine rich repeat

    4. NM_001321677.2 → NP_001308606.1  leucine-rich repeat-containing protein 28 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC037479, AK295161, DA787321
      UniProtKB/TrEMBL
      B4DHL3
      Conserved Domains (2) summary
      sd00033
      Location:20 → 42
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:43 → 100
      LRR_8; Leucine rich repeat

    5. NM_001321678.2 → NP_001308607.1  leucine-rich repeat-containing protein 28 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC037479
      UniProtKB/TrEMBL
      H0YKM4
      Conserved Domains (2) summary
      sd00033
      Location:22 → 44
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:20 → 101
      LRR_8; Leucine rich repeat

    6. NM_001321679.2 → NP_001308608.1  leucine-rich repeat-containing protein 28 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC037479
      UniProtKB/TrEMBL
      B4DK22, Q8NB41
      Conserved Domains (2) summary
      PRK15370
      Location:5 → 152
      PRK15370; E3 ubiquitin-protein ligase SlrP; Provisional
      sd00031
      Location:5 → 27
      LRR_1; leucine-rich repeat [structural motif]

    7. NM_001321680.2 → NP_001308609.1  leucine-rich repeat-containing protein 28 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC037479
      UniProtKB/TrEMBL
      B4DK22, Q8NB41
      Conserved Domains (2) summary
      PRK15370
      Location:5 → 152
      PRK15370; E3 ubiquitin-protein ligase SlrP; Provisional
      sd00031
      Location:5 → 27
      LRR_1; leucine-rich repeat [structural motif]

    8. NM_144598.5 → NP_653199.2  leucine-rich repeat-containing protein 28 isoform 1

      See identical proteins and their annotated locations for NP_653199.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC037479, BC047306
      Consensus CDS
      CCDS10380.1
      UniProtKB/Swiss-Prot
      A8KA22, Q6UY49, Q6ZSS6, Q86X40
      Related
      ENSP00000304923.3, ENST00000301981.8
      Conserved Domains (2) summary
      sd00033
      Location:43 → 66
      LRR_RI; leucine-rich repeat [structural motif]
      cl26018
      Location:46 → 306
      NEL; C-terminal novel E3 ligase, LRR-interacting

    RNA

    1. NR_135753.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC037479, AK127177, AK296352, BC047306

    2. NR_135754.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC037479

    3. NR_135755.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC037479

    4. NR_135756.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC037479

    5. NR_135757.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC037479

    6. NR_135758.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC037479

    7. NR_135759.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC037479

    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
      99251481..99390729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521218.3 → XP_011519520.1  leucine-rich repeat-containing protein 28 isoform X1

      See identical proteins and their annotated locations for XP_011519520.1

      UniProtKB/Swiss-Prot
      A8KA22, Q6UY49, Q6ZSS6, Q86X40
      Conserved Domains (2) summary
      sd00033
      Location:43 → 66
      LRR_RI; leucine-rich repeat [structural motif]
      cl26018
      Location:46 → 306
      NEL; C-terminal novel E3 ligase, LRR-interacting

    2. XM_011521220.3 → XP_011519522.1  leucine-rich repeat-containing protein 28 isoform X2

      UniProtKB/TrEMBL
      H0YKM4
      Related
      ENSP00000452863.1, ENST00000561276.5
      Conserved Domains (2) summary
      sd00033
      Location:43 → 66
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:43 → 100
      LRR_8; Leucine rich repeat

    3. XM_047432145.1 → XP_047288101.1  leucine-rich repeat-containing protein 28 isoform X2

    4. XM_047432148.1 → XP_047288104.1  leucine-rich repeat-containing protein 28 isoform X6

    5. XM_017021914.2 → XP_016877403.1  leucine-rich repeat-containing protein 28 isoform X5

      Conserved Domains (2) summary
      sd00033
      Location:43 → 66
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:43 → 100
      LRR_8; Leucine rich repeat

    6. XM_011521221.4 → XP_011519523.1  leucine-rich repeat-containing protein 28 isoform X3

      Conserved Domains (2) summary
      sd00033
      Location:43 → 66
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:43 → 100
      LRR_8; Leucine rich repeat

    7. XM_006720389.5 → XP_006720452.1  leucine-rich repeat-containing protein 28 isoform X5

      Conserved Domains (2) summary
      sd00033
      Location:43 → 66
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:43 → 100
      LRR_8; Leucine rich repeat

    8. XM_047432146.1 → XP_047288102.1  leucine-rich repeat-containing protein 28 isoform X4

    9. XM_047432150.1 → XP_047288106.1  leucine-rich repeat-containing protein 28 isoform X7

      UniProtKB/TrEMBL
      Q8NB41

    10. XM_047432149.1 → XP_047288105.1  leucine-rich repeat-containing protein 28 isoform X7

      UniProtKB/TrEMBL
      Q8NB41

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      97015255..97154521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377274.1 → XP_054233249.1  leucine-rich repeat-containing protein 28 isoform X2

    2. XM_054377280.1 → XP_054233255.1  leucine-rich repeat-containing protein 28 isoform X6

    3. XM_054377279.1 → XP_054233254.1  leucine-rich repeat-containing protein 28 isoform X5

    4. XM_054377276.1 → XP_054233251.1  leucine-rich repeat-containing protein 28 isoform X3

    5. XM_054377278.1 → XP_054233253.1  leucine-rich repeat-containing protein 28 isoform X5

    6. XM_054377277.1 → XP_054233252.1  leucine-rich repeat-containing protein 28 isoform X4

    7. XM_054377273.1 → XP_054233248.1  leucine-rich repeat-containing protein 28 isoform X1

      UniProtKB/Swiss-Prot
      A8KA22, Q6UY49, Q6ZSS6, Q86X40

    8. XM_054377275.1 → XP_054233250.1  leucine-rich repeat-containing protein 28 isoform X2

    9. XM_054377282.1 → XP_054233257.1  leucine-rich repeat-containing protein 28 isoform X7

      UniProtKB/TrEMBL
      Q8NB41

    10. XM_054377281.1 → XP_054233256.1  leucine-rich repeat-containing protein 28 isoform X7

      UniProtKB/TrEMBL
      Q8NB41
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86X40.1 GenPept UniProtKB/Swiss-Prot:Q86X40

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