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    LUC7L LUC7 like [ Homo sapiens (human) ]

    Gene ID: 55692, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LUC7Lprovided by HGNC
    Official Full Name
    LUC7 likeprovided by HGNC
    Primary source
    HGNC:HGNC:6723
    See related
    Ensembl:ENSG00000007392 MIM:607782; AllianceGenome:HGNC:6723
    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
    Luc7; SR+89; LUC7B1; hLuc7B1
    Summary
    The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 18.6), spleen (RPKM 15.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LUC7L in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (188990..229449, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (182837..223275, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (238989..279448, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene hemoglobin subunit alpha 1 recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6903 Neighboring gene hemoglobin subunit alpha 1 Neighboring gene hemoglobin subunit theta 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:279124-279820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:284237-284780 Neighboring gene C4orf46 pseudogene 1 Neighboring gene family with sequence similarity 234 member A Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:307431-308390 Neighboring gene regulator of G protein signaling 11

    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. Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms. Daniels NJ, et al. Cell Rep, 2021 Apr 13. PMID 33852859, Free PMC Article
    2. Characterization of a widely expressed gene (LUC7-LIKE; LUC7L) defining the centromeric boundary of the human alpha-globin domain. Tufarelli C, et al. Genomics, 2001 Feb 1. PMID 11170747
    3. Structured RNAs in the ENCODE selected regions of the human genome. Washietl S, et al. Genome Res, 2007 Jun. PMID 17568003, Free PMC Article
    4. GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. Li J, et al. Hum Mol Genet, 2013 Apr 1. PMID 23263863, Free PMC Article
    5. The Brd4 extraterminal domain confers transcription activation independent of pTEFb by recruiting multiple proteins, including NSD3. Rahman S, et al. Mol Cell Biol, 2011 Jul. PMID 21555454, Free PMC Article

    See all (108) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms.
      Title: Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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 of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10231

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RS domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splice site recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of striated muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of U1 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type prespliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    putative RNA-binding protein Luc7-like 1
    Names
    putative SR protein LUC7B1
    sarcoplasmic reticulum protein LUC7B1

    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_001320226.2 → NP_001307155.1  putative RNA-binding protein Luc7-like 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and uses an alternate splice site in the 3' coding region. The encoded isoform (a) has a shorter C-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AK001093, AY005111, HY095072, Z69706
      Consensus CDS
      CCDS10401.1
      UniProtKB/TrEMBL
      Q1W6G4
      Related
      ENSP00000380885.1, ENST00000397783.5
      Conserved Domains (1) summary
      pfam03194
      Location:5 → 242
      LUC7; LUC7 N_terminus

    2. NM_001330420.2 → NP_001317349.1  putative RNA-binding protein Luc7-like 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites, resulting in the use of a downstream start codon and a shorter 3' coding region, compared to variant 1. The encoded isoform (c) has shorter N- and C-termini compared to isoform a.
      Source sequence(s)
      BC065198, Z69706, Z69890
      Consensus CDS
      CCDS81921.1
      UniProtKB/TrEMBL
      A8MYV2
      Related
      ENST00000490762.5
      Conserved Domains (1) summary
      pfam03194
      Location:1 → 189
      LUC7; LUC7 N_terminus

    3. NM_018032.5 → NP_060502.1  putative RNA-binding protein Luc7-like 1 isoform a

      See identical proteins and their annotated locations for NP_060502.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (a) is shorter at the C-terminus compared to isoform b. Variants 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AJ404326, AY005111, HY095072
      Consensus CDS
      CCDS10401.1
      UniProtKB/TrEMBL
      Q1W6G4
      Related
      ENSP00000337507.4, ENST00000337351.8
      Conserved Domains (1) summary
      pfam03194
      Location:5 → 242
      LUC7; LUC7 N_terminus

    4. NM_201412.3 → NP_958815.1  putative RNA-binding protein Luc7-like 1 isoform b

      See identical proteins and their annotated locations for NP_958815.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (b).
      Source sequence(s)
      AY005111, HY095072
      Consensus CDS
      CCDS32348.1
      UniProtKB/Swiss-Prot
      B8ZZ13, Q96S32, Q9NPH4, Q9NQ29
      UniProtKB/TrEMBL
      Q53G47
      Related
      ENSP00000293872.8, ENST00000293872.13
      Conserved Domains (1) summary
      pfam03194
      Location:5 → 242
      LUC7; LUC7 N_terminus

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      188990..229449 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522561.3 → XP_011520863.1  putative RNA-binding protein Luc7-like 1 isoform X1

      UniProtKB/TrEMBL
      Q53G47
      Conserved Domains (2) summary
      COG5200
      Location:5 → 197
      LUC7; U1 snRNP component, mediates U1 snRNP association with cap-binding complex [RNA processing and modification]
      pfam03194
      Location:5 → 208
      LUC7; LUC7 N_terminus

    2. XM_005255427.4 → XP_005255484.1  putative RNA-binding protein Luc7-like 1 isoform X2

      See identical proteins and their annotated locations for XP_005255484.1

      UniProtKB/TrEMBL
      Q53G47
      Conserved Domains (1) summary
      pfam03194
      Location:1 → 189
      LUC7; LUC7 N_terminus

    3. XM_017023438.3 → XP_016878927.1  putative RNA-binding protein Luc7-like 1 isoform X3

      Conserved Domains (1) summary
      cl27291
      Location:1 → 156
      LUC7; LUC7 N_terminus

    4. XM_047434359.1 → XP_047290315.1  putative RNA-binding protein Luc7-like 1 isoform X4

      UniProtKB/TrEMBL
      A8MYV2
      Related
      ENSP00000380882.1, ENST00000397780.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      182837..223275 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313455.1 → XP_054169430.1  putative RNA-binding protein Luc7-like 1 isoform X1

    2. XM_054313456.1 → XP_054169431.1  putative RNA-binding protein Luc7-like 1 isoform X2

    3. XM_054313457.1 → XP_054169432.1  putative RNA-binding protein Luc7-like 1 isoform X3

    4. XM_054313458.1 → XP_054169433.1  putative RNA-binding protein Luc7-like 1 isoform X4

      UniProtKB/TrEMBL
      A8MYV2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQ29.1 GenPept UniProtKB/Swiss-Prot:Q9NQ29

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