LSM14A LSM14A mRNA processing body assembly factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: LSM14Aprovided by HGNC
Official Full Name: LSM14A mRNA processing body assembly factorprovided by HGNC
Primary source: HGNC:HGNC:24489
See related: Ensembl:ENSG00000257103 MIM:610677; AllianceGenome:HGNC:24489
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: RAP55; FAM61A; RAP55A; C19orf13
Summary: Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in thyroid (RPKM 23.9), lymph node (RPKM 21.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.11

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (34172504..34229288)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (36693004..36749747)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (34663409..34720193)

Chromosome 19 - NC_000019.10 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 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?

Nonstructural Protein NSs Hampers Cellular Antiviral Response through LSm14A during Severe Fever with Thrombocytopenia Syndrome Virus Infection.
Title: Nonstructural Protein NSs Hampers Cellular Antiviral Response through LSm14A during Severe Fever with Thrombocytopenia Syndrome Virus Infection.
alpha-synuclein p.A53V homozygous mutation leads to a distinct phenotype of progressive parkinsonism and cognitive decline, commonly observed in patients with SNCA missense mutation or multiplications
Title: Homozygous alpha-synuclein p.A53V in familial Parkinson's disease.
Excessive iron and alpha-synuclein oligomer in brain commonly contributed to pure apathy of PD through potential mechanism of oxidative stress.
Title: Excessive Iron and α-Synuclein Oligomer in Brain are Relevant to Pure Apathy in Parkinson Disease.
RAP55/LSM14 binds directly the tubulin and that is implicated in the process of the mitotic spindle stabilization
Title: Localization and role of RAP55/LSM14 in HeLa cells: a new finding on the mitotic spindle assembly.
RAP55 is important for the assembly of cytoplasmic mRNP granules and that PRMT1 is required for RAP55A to localize to P-bodies.
Title: PRMT1 is required for RAP55 to localize to processing bodies.
The NS1 protein of influenza A virus interacts with cellular processing bodies and stress granules through RNA-associated protein 55 (RAP55) during virus infection.
Title: The NS1 protein of influenza A virus interacts with cellular processing bodies and stress granules through RNA-associated protein 55 (RAP55) during virus infection.
LSm14A is a processing body-associated sensor of viral nucleic acids that initiates cellular antiviral response in the early phase of viral infection.
Title: LSm14A is a processing body-associated sensor of viral nucleic acids that initiates cellular antiviral response in the early phase of viral infection.
this protein family has evolved a common and fundamental role in the control of mRNA translation. Human RAP55A is an autoantigen detected in the serum of patients with primary biliary cirrhosis (PBC).
Title: RAP55: insights into an evolutionarily conserved protein family.

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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

D19S1104 (e-PCR)
- UniSTS:1070

REN92021 (e-PCR)
- UniSTS:416819

BMON117 (e-PCR), detects polymorphism
- UniSTS:251706

CSAP26E (e-PCR), detects polymorphism
- UniSTS:279628

WI-15149 (e-PCR)
- UniSTS:43863

ECD12271 (e-PCR)
- UniSTS:293304

RH44323 (e-PCR)
- UniSTS:40640

D19S802 (e-PCR)
- UniSTS:153550

RH93647 (e-PCR)
- UniSTS:91880

RH70420 (e-PCR)
- UniSTS:39669

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables double-stranded RNA binding	IEA Inferred from Electronic Annotation more info
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded RNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in P-body assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in P-body assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in P-body assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in RIG-I signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of type I interferon-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in stress granule assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in P-body	IBA Inferred from Biological aspect of Ancestor more info
located_in P-body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein LSM14 homolog A

Names: LSM14 homolog A; LSM14A, SCD6 homolog A; RNA-associated protein 55; RNA-associated protein 55A; alphaSNBP; family with sequence similarity 61, member A; hRAP55; hRAP55A; protein SCD6 homolog; putative alpha-synuclein-binding protein

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_001114093.3 → NP_001107565.1 protein LSM14 homolog A isoform a

See identical proteins and their annotated locations for NP_001107565.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform a. While isoforms a and b are of the same length, their C-termini are different.

Source sequence(s)

AC010614

Consensus CDS

CCDS46040.1

UniProtKB/Swiss-Prot

B4DTG6, Q76LX7, Q8ND56, Q96AR3, Q96K73, Q96SN5, Q9UFR3

Related

ENSP00000413964.3, ENST00000433627.9

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:291 → 399

FDF; FDF domain
NM_001384420.1 → NP_001371349.1 protein LSM14 homolog A isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) encodes the longest isoform (c).

Source sequence(s)

AC010614

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:291 → 399

FDF; FDF domain
NM_001384421.1 → NP_001371350.1 protein LSM14 homolog A isoform d

Status: VALIDATED

Source sequence(s)

AC010614

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:289 → 397

FDF; FDF domain
NM_001384422.1 → NP_001371351.1 protein LSM14 homolog A isoform e

Status: VALIDATED

Source sequence(s)

AC010614

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:280 → 388

FDF; FDF domain
NM_001384423.1 → NP_001371352.1 protein LSM14 homolog A isoform f

Status: VALIDATED

Source sequence(s)

AC010614

Consensus CDS

CCDS92582.1

UniProtKB/TrEMBL

A0A140TA76

Related

ENSP00000446451.1, ENST00000540746.6

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:250 → 358

FDF; FDF domain
NM_001384424.1 → NP_001371353.1 protein LSM14 homolog A isoform g

Status: VALIDATED

Source sequence(s)

AC010614

UniProtKB/TrEMBL

A0A140TA76

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:232 → 340

FDF; FDF domain
NM_001384425.1 → NP_001371354.1 protein LSM14 homolog A isoform h

Status: VALIDATED

Description

Transcript Variant: This variant (8) encodes isoform h. While isoforms h and i are of the same length, their C-termini are different.

Source sequence(s)

AC010614

UniProtKB/TrEMBL

A0A140TA76

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:232 → 340

FDF; FDF domain
NM_001384426.1 → NP_001371355.1 protein LSM14 homolog A isoform i

Status: VALIDATED

Description

Transcript Variant: This variant (9) encodes isoform i. While isoforms h and i are of the same length, their C-termini are different.

Source sequence(s)

AC010614

UniProtKB/TrEMBL

A0A140TA76

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:232 → 340

FDF; FDF domain
NM_001384427.1 → NP_001371356.1 protein LSM14 homolog A isoform j

Status: VALIDATED

Description

Transcript Variant: This variant (10) encodes isoform j. While isoforms j and k are of the same length, their C-termini are different.

Source sequence(s)

AC010614

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:256 → 338

FDF; FDF domain
NM_001384428.1 → NP_001371357.1 protein LSM14 homolog A isoform k

Status: VALIDATED

Description

Transcript Variant: This variant (11) encodes isoform k. While isoforms j and k are of the same length, their C-termini are different.

Source sequence(s)

AC010614

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:256 → 338

FDF; FDF domain
NM_001384429.1 → NP_001371358.1 protein LSM14 homolog A isoform l

Status: VALIDATED

Source sequence(s)

AC010614

UniProtKB/TrEMBL

A0A140TA76

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:210 → 318

FDF; FDF domain
NM_001384430.1 → NP_001371359.1 protein LSM14 homolog A isoform m

Status: VALIDATED

Source sequence(s)

AC010614

Conserved Domains (1) summary

pfam09532
Location:197 → 305

FDF; FDF domain
NM_001384431.1 → NP_001371360.1 protein LSM14 homolog A isoform n

Status: VALIDATED

Description

Transcript Variant: This variant (14) encodes isoform n. While isoforms n and o are of the same length, their C-termini are different.

Source sequence(s)

AC010614

Conserved Domains (1) summary

pfam09532
Location:184 → 292

FDF; FDF domain
NM_001384432.1 → NP_001371361.1 protein LSM14 homolog A isoform o

Status: VALIDATED

Description

Transcript Variant: This variant (15), as well as variants 16 and 17, encodes isoform o. While isoforms n and o are of the same length, their C-termini are different.

Source sequence(s)

AC010614

Conserved Domains (1) summary

pfam09532
Location:184 → 292

FDF; FDF domain
NM_001384433.1 → NP_001371362.1 protein LSM14 homolog A isoform o

Status: VALIDATED

Description

Transcript Variant: This variant (16), as well as variants 15 and 17, encodes isoform o. While isoforms n and o are of the same length, their C-termini are different.

Source sequence(s)

AC010614

Conserved Domains (1) summary

pfam09532
Location:184 → 292

FDF; FDF domain
NM_001384434.1 → NP_001371363.1 protein LSM14 homolog A isoform o

Status: VALIDATED

Description

Transcript Variant: This variant (17), as well as variants 15 and 16, encodes isoform o. While isoforms n and o are of the same length, their C-termini are different.

Source sequence(s)

AC010614

Conserved Domains (1) summary

pfam09532
Location:184 → 292

FDF; FDF domain
NM_001384435.1 → NP_001371364.1 protein LSM14 homolog A isoform p

Status: VALIDATED

Description

Transcript Variant: This variant (18) encodes isoform p. While isoforms p and q are of the same length, their C-termini are different.

Source sequence(s)

AC010614

UniProtKB/TrEMBL

A0A140TA76

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:197 → 279

FDF; FDF domain
NM_001384436.1 → NP_001371365.1 protein LSM14 homolog A isoform q

Status: VALIDATED

Description

Transcript Variant: This variant (19) encodes isoform q. While isoforms p and q are of the same length, their C-termini are different.

Source sequence(s)

AC010614

UniProtKB/TrEMBL

A0A140TA76

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:197 → 279

FDF; FDF domain
NM_001384437.1 → NP_001371366.1 protein LSM14 homolog A isoform r

Status: VALIDATED

Source sequence(s)

AC010614

Conserved Domains (1) summary

pfam09532
Location:149 → 231

FDF; FDF domain
NM_015578.4 → NP_056393.2 protein LSM14 homolog A isoform b

See identical proteins and their annotated locations for NP_056393.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1 and encodes isoform b. While isoforms a and b are of the same length, their C-termini are different.

Source sequence(s)

AC010614

Consensus CDS

CCDS12435.1

UniProtKB/Swiss-Prot

Q8ND56

Related

ENSP00000446271.2, ENST00000544216.8

Conserved Domains (2) summary

cd01736
Location:4 → 77

LSm14_N; Like-Sm protein 14, N-terminal domain

pfam09532
Location:291 → 399

FDF; FDF domain