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LUC7L LUC7 like [ Homo sapiens (human) ]

Gene ID: 55692, updated on 17-Jun-2019

Summary

Official Symbol
LUC7Lprovided by HGNC
Official Full Name
LUC7 likeprovided by HGNC
Primary source
HGNC:HGNC:6723
See related
Ensembl:ENSG00000007392 MIM:607782
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

Genomic context

See LUC7L in Genome Data Viewer
Location:
16p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (188969..229482, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (238970..279449, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene hemoglobin subunit alpha 1 recombination region Neighboring gene hemoglobin subunit alpha 1 Neighboring gene hemoglobin subunit theta 1 Neighboring gene chromosome 4 open reading frame 46 pseudogene Neighboring gene family with sequence similarity 234 member A Neighboring gene regulator of G protein signaling 11

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10231

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001320226.1NP_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, CB105153, HY095072, Z69706
    Consensus CDS
    CCDS10401.1
    UniProtKB/Swiss-Prot
    Q9NQ29
    UniProtKB/TrEMBL
    Q1W6G4
    Related
    ENSP00000380885.1, ENST00000397783.5
    Conserved Domains (1) summary
    pfam03194
    Location:5242
    LUC7; LUC7 N_terminus
  2. NM_001330420.1NP_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/Swiss-Prot
    Q9NQ29
    UniProtKB/TrEMBL
    A8MYV2
    Related
    ENSP00000380882.1, ENST00000397780.5
    Conserved Domains (1) summary
    pfam03194
    Location:1189
    LUC7; LUC7 N_terminus
  3. NM_018032.5NP_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/Swiss-Prot
    Q9NQ29
    UniProtKB/TrEMBL
    Q1W6G4
    Related
    ENSP00000337507.4, ENST00000337351.8
    Conserved Domains (1) summary
    pfam03194
    Location:5242
    LUC7; LUC7 N_terminus
  4. NM_201412.2NP_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, CB105153, HY095072
    Consensus CDS
    CCDS32348.1
    UniProtKB/Swiss-Prot
    Q9NQ29
    Related
    ENSP00000293872.8, ENST00000293872.12
    Conserved Domains (1) summary
    pfam03194
    Location:5242
    LUC7; LUC7 N_terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    188969..229482 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023440.2XP_016878929.1  putative RNA-binding protein Luc7-like 1 isoform X5

  2. XM_024450344.1XP_024306112.1  putative RNA-binding protein Luc7-like 1 isoform X3

    Conserved Domains (1) summary
    pfam03194
    Location:5209
    LUC7; LUC7 N_terminus
  3. XM_005255427.3XP_005255484.1  putative RNA-binding protein Luc7-like 1 isoform X2

    See identical proteins and their annotated locations for XP_005255484.1

    Conserved Domains (1) summary
    pfam03194
    Location:1189
    LUC7; LUC7 N_terminus
  4. XM_017023437.2XP_016878926.1  putative RNA-binding protein Luc7-like 1 isoform X2

    Conserved Domains (1) summary
    pfam03194
    Location:1189
    LUC7; LUC7 N_terminus
  5. XM_017023438.2XP_016878927.1  putative RNA-binding protein Luc7-like 1 isoform X4

    UniProtKB/TrEMBL
    D3DU41
    Conserved Domains (1) summary
    COG5200
    Location:4144
    LUC7; U1 snRNP component, mediates U1 snRNP association with cap-binding complex [RNA processing and modification]
  6. XM_005255429.3XP_005255486.1  putative RNA-binding protein Luc7-like 1 isoform X4

    See identical proteins and their annotated locations for XP_005255486.1

    UniProtKB/TrEMBL
    D3DU41
    Conserved Domains (1) summary
    COG5200
    Location:4144
    LUC7; U1 snRNP component, mediates U1 snRNP association with cap-binding complex [RNA processing and modification]
  7. XM_011522561.2XP_011520863.1  putative RNA-binding protein Luc7-like 1 isoform X1

    Conserved Domains (2) summary
    COG5200
    Location:5197
    LUC7; U1 snRNP component, mediates U1 snRNP association with cap-binding complex [RNA processing and modification]
    pfam03194
    Location:5208
    LUC7; LUC7 N_terminus
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