LTV1 LTV1 ribosome biogenesis factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: LTV1provided by HGNC
Official Full Name: LTV1 ribosome biogenesis factorprovided by HGNC
Primary source: HGNC:HGNC:21173
See related: Ensembl:ENSG00000135521 MIM:620074; AllianceGenome:HGNC:21173
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: IPHAK; C6orf93; dJ468K18.4
Summary: Predicted to be involved in ribosomal small subunit biogenesis and ribosomal small subunit export from nucleus. Located in cytosol and nucleoplasm. Implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 17.0), testis (RPKM 13.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q24.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (143843338..143863812)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (145036018..145056492)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (144164475..144184949)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
Title: Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
Ribosome biogenesis factor Ltv1 chaperones the assembly of the small subunit head.
Title: Ribosome biogenesis factor Ltv1 chaperones the assembly of the small subunit head.

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

Associated conditions

Description	Tests
Inflammatory poikiloderma with hair abnormalities and acral keratoses MedGen: C5774293 OMIM: 620199 GeneReviews: Not available	not available

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

RH99001 (e-PCR)
- UniSTS:90395

DXS7944 (e-PCR)
- UniSTS:99361

A009Z26 (e-PCR)
- UniSTS:17725

RH16386 (e-PCR)
- UniSTS:61005

G33020 (e-PCR)
- UniSTS:117597

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ribosomal small subunit biogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosomal small subunit export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosome biogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of preribosome, small subunit precursor	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein LTV1 homolog

Names: LTV1 homolog

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_001329953.2 → NP_001316882.1 protein LTV1 homolog isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AL049844
NM_032860.5 → NP_116249.2 protein LTV1 homolog isoform 1

See identical proteins and their annotated locations for NP_116249.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AA453435, BC009855, DA885378

Consensus CDS

CCDS5201.1

UniProtKB/Swiss-Prot

Q96GA3, Q96JX8

Related

ENSP00000356548.5, ENST00000367576.6

Conserved Domains (1) summary

pfam04180
Location:15 → 445

LTV; Low temperature viability protein