LUC7L3 LUC7 like 3 pre-mRNA splicing factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: LUC7L3provided by HGNC
Official Full Name: LUC7 like 3 pre-mRNA splicing factorprovided by HGNC
Primary source: HGNC:HGNC:24309
See related: Ensembl:ENSG00000108848 MIM:609434; AllianceGenome:HGNC:24309
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CRA; CROP; LUC7A; hLuc7A; CREAP-1; OA48-18
Summary: This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009]
Expression: Ubiquitous expression in endometrium (RPKM 53.0), ovary (RPKM 46.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (50719603..50756219)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (51586802..51623382)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48796964..48833580)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
In our present RNA-Seq experiment, we demonstrated that the LUC7L3 and SFRS18 splicing factors contribute to the regulation of several well-known psoriasis-associated pathways, including the IFN signalling pathway, antiviral immunity and ubiquitination.
Title: Analysis of psoriasis-relevant gene expression and exon usage alterations after silencing of SR-rich splicing regulators.
results indicate that LUC7L3, PPIG, and SFRS18 are not only implicated in EDA+ fibronectin formation, but also that they could possess multiple roles in psoriasis-associated molecular abnormalities.
Title: Splicing factors differentially expressed in psoriasis alter mRNA maturation of disease-associated EDA+ fibronectin.
LUC7 like 3 pre-mRNA splicing factor (LUC7L3, also known as hLuc7A or CROP) is a novel interacting partner of HBV enhancer II and basal core promoter.
Title: LUC7L3/CROP inhibits replication of hepatitis B virus via suppressing enhancer II/basal core promoter activity.
these results show that angiotensin II and hypoxia, signals common to heart failure, result in increased LUC7L3 and RBM25 splicing regulators, increased binding of RBM25 to SCN5A mRNA, increased SCN5A splice variant abundances, decreased full-length SCN5A mRNA and protein, and decreased Na(+) current.
Title: RBM25/LUC7L3 function in cardiac sodium channel splicing regulation of human heart failure.
RBM25/LUC7L3-mediated abnormal SCN5A mRNA splicing reduced Na+ channel current 91.1+/-9.3% to a range known to cause sudden death.
Title: Role of RBM25/LUC7L3 in abnormal cardiac sodium channel splicing regulation in human heart failure.
Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
Luc7A is a new U1 snRNP-associated splicing factor.
Title: The U1 snRNP-associated factor Luc7p affects 5' splice site selection in yeast and human.
These results suggest that cisplatin affects RNA splicing by changing the subnuclear distribution of proteins including cisplatin resistance-associated overexpressed protein (CROP).
Title: Effect of cisplatin treatment on speckled distribution of a serine/arginine-rich nuclear protein CROP/Luc7A.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH45304 (e-PCR)
- UniSTS:38960

RH45275 (e-PCR)
- UniSTS:59961

SHGC-2641 (e-PCR)
- UniSTS:39782

SGC31696 (e-PCR)
- UniSTS:59551

EST12G4 (e-PCR)
- UniSTS:263082

D17S1482E (e-PCR)
- UniSTS:15038

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA splice site recognition	IBA Inferred from Biological aspect of Ancestor 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
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: luc7-like protein 3

Names: CRE-associated protein 1; LUC7-like 3; cAMP regulatory element-associated protein 1; cisplatin resistance-associated-overexpressed protein; okadaic acid-inducible phosphoprotein OA48-18

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)

NM_001330330.2 → NP_001317259.1 luc7-like protein 3 isoform 2

Status: REVIEWED

Source sequence(s)

AC005921, AK225980, BC047043, DA218563

Consensus CDS

CCDS82158.1

UniProtKB/TrEMBL

J3KPP4

Related

ENSP00000376919.2, ENST00000393227.6

Conserved Domains (1) summary

pfam03194
Location:4 → 246

LUC7; LUC7 N_terminus
NM_006107.4 → NP_006098.2 luc7-like protein 3 isoform 1

See identical proteins and their annotated locations for NP_006098.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal region in the 3' UTR, as compared to variant 1.

Source sequence(s)

AC005921, AK023672, CN271700

Consensus CDS

CCDS11573.1

UniProtKB/Swiss-Prot

B3KN54, D3DTY1, O95232, Q6PHR9, Q9NUY0, Q9P2S7

UniProtKB/TrEMBL

A8K3C5

Related

ENSP00000240304.1, ENST00000240304.5

Conserved Domains (1) summary

pfam03194
Location:4 → 246

LUC7; LUC7 N_terminus
NM_016424.5 → NP_057508.2 luc7-like protein 3 isoform 1

See identical proteins and their annotated locations for NP_057508.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AC005921, AK290540, BC047043, CN271700, DA231851

Consensus CDS

CCDS11573.1

UniProtKB/Swiss-Prot

B3KN54, D3DTY1, O95232, Q6PHR9, Q9NUY0, Q9P2S7

UniProtKB/TrEMBL

A8K3C5

Related

ENSP00000425092.1, ENST00000505658.6

Conserved Domains (1) summary

pfam03194
Location:4 → 246

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

50719603..50756219

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005257452.2 → XP_005257509.1 luc7-like protein 3 isoform X2

See identical proteins and their annotated locations for XP_005257509.1

UniProtKB/TrEMBL

A8K3C5

Conserved Domains (1) summary

pfam03194
Location:4 → 246

LUC7; LUC7 N_terminus
XM_005257449.3 → XP_005257506.1 luc7-like protein 3 isoform X1

See identical proteins and their annotated locations for XP_005257506.1

UniProtKB/TrEMBL

A8K3C5

Conserved Domains (1) summary

pfam03194
Location:4 → 246

LUC7; LUC7 N_terminus
XM_047436247.1 → XP_047292203.1 luc7-like protein 3 isoform X3

UniProtKB/TrEMBL

A8K3C5
XM_006721943.3 → XP_006722006.1 luc7-like protein 3 isoform X4

See identical proteins and their annotated locations for XP_006722006.1

Conserved Domains (1) summary

cl27291
Location:4 → 170

LUC7; LUC7 N_terminus
XM_047436248.1 → XP_047292204.1 luc7-like protein 3 isoform X4
XM_047436249.1 → XP_047292205.1 luc7-like protein 3 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

51586802..51623382

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316416.1 → XP_054172391.1 luc7-like protein 3 isoform X2

UniProtKB/TrEMBL

A8K3C5
XM_054316415.1 → XP_054172390.1 luc7-like protein 3 isoform X1

UniProtKB/TrEMBL

A8K3C5
XM_054316417.1 → XP_054172392.1 luc7-like protein 3 isoform X3

UniProtKB/TrEMBL

A8K3C5
XM_054316419.1 → XP_054172394.1 luc7-like protein 3 isoform X4
XM_054316418.1 → XP_054172393.1 luc7-like protein 3 isoform X4
XM_054316420.1 → XP_054172395.1 luc7-like protein 3 isoform X4