APOL5 apolipoprotein L5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: APOL5provided by HGNC
Official Full Name: apolipoprotein L5provided by HGNC
Primary source: HGNC:HGNC:14869
See related: Ensembl:ENSG00000128313 MIM:607255; AllianceGenome:HGNC:14869
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: APOLV; APOL-V
Summary: This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 22q12.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (35708424..35729483)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (36168169..36189236)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (36113919..36125530)

Chromosome 22 - NC_000022.11 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic associations of brain structural networks in schizophrenia: a preliminary study.
APOL5 has been found only in humans
Title: The human apolipoprotein L gene cluster: identification, classification, and sites of distribution.

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
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables high-density lipoprotein particle binding	NAS Non-traceable Author Statement more info	PubMed
enables lipid binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in lipid metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in lipid transport	IEA Inferred from Electronic Annotation more info
involved_in lipoprotein metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: apolipoprotein L5

Names: apolipoprotein L, 5; apolipoprotein L-V

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_030642.1 → NP_085145.1 apolipoprotein L5

See identical proteins and their annotated locations for NP_085145.1

Status: REVIEWED

Source sequence(s)

AY014878

Consensus CDS

CCDS13920.1

UniProtKB/Swiss-Prot

Q5TFL9, Q9BWW9, Q9UGW5

UniProtKB/TrEMBL

A0A0G2JME4

Related

ENSP00000249044.2, ENST00000249044.2

Conserved Domains (1) summary

pfam05461
Location:55 → 350

ApoL; Apolipoprotein L

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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

35708424..35729483

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724321.5 → XP_006724384.1 apolipoprotein L5 isoform X1

UniProtKB/TrEMBL

A0A0G2JME4

Conserved Domains (1) summary

pfam05461
Location:39 → 334

ApoL; Apolipoprotein L
XM_017028945.3 → XP_016884434.1 apolipoprotein L5 isoform X2

UniProtKB/TrEMBL

A0A0G2JME4