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LUC7L LUC7 like [ Homo sapiens (human) ]

Gene ID: 55692, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (188990..229449, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (182837..223275, complement)
105.20220307 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 (99) 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)

Genotypes

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_2023_10

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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