ATP8B3 ATPase phospholipid transporting 8B3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP8B3provided by HGNC
Official Full Name: ATPase phospholipid transporting 8B3provided by HGNC
Primary source: HGNC:HGNC:13535
See related: Ensembl:ENSG00000130270 MIM:605866; AllianceGenome:HGNC:13535
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: ATPIK
Summary: The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Expression: Biased expression in testis (RPKM 14.6), endometrium (RPKM 1.3) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (1782075..1812276, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (1753422..1783592, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (1782074..1812275, complement)

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
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?

Association of ATP8B3 gene polymorphisms with aspirin-exacerbated respiratory disease in asthmatics.
Title: Association of ATP8B3 gene polymorphisms with aspirin-exacerbated respiratory disease in asthmatics.

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
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

GDB:314949 (e-PCR)
- UniSTS:156503

RH102133 (e-PCR)
- UniSTS:96467

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled intramembrane lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylserine floppase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in binding of sperm to zona pellucida	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in phospholipid translocation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in acrosomal membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
part_of phospholipid-translocating ATPase complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: phospholipid-transporting ATPase IK

Names: ATPase, aminophospholipid transporter, class I, type 8B, member 3; ATPase, class I, type 8B, member 3; aminophospholipid translocase ATP8B3; potential phospholipid-transporting ATPase IK; probable phospholipid-transporting ATPase IK

NP_001171473.1

EC 7.6.2.1

NP_620168.1

EC 7.6.2.1

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_001178002.3 → NP_001171473.1 phospholipid-transporting ATPase IK isoform 2

See identical proteins and their annotated locations for NP_001171473.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' sequence, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AC012615, AK057452, AY302538, BC035162, BU542181

Consensus CDS

CCDS54196.1

UniProtKB/Swiss-Prot

O60423

Related

ENSP00000437115.1, ENST00000525591.5

Conserved Domains (5) summary

TIGR01652
Location:80 → 1173

ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase

pfam13246
Location:546 → 622

Cation_ATPase; Cation transport ATPase (P-type)

pfam16209
Location:55 → 131

PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal

pfam16212
Location:928 → 1173

PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal

cl21460
Location:884 → 928

HAD_like; Haloacid Dehalogenase-like Hydrolases
NM_138813.4 → NP_620168.1 phospholipid-transporting ATPase IK isoform 1

See identical proteins and their annotated locations for NP_620168.1

Status: REVIEWED

Description

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

Source sequence(s)

AC004755, AC012615, BC035162, DA111464

Consensus CDS

CCDS45901.1

UniProtKB/Swiss-Prot

O60423, Q7Z485, Q8IVB8, Q8N4Y8, Q96M22

Related

ENSP00000311336.6, ENST00000310127.10

Conserved Domains (5) summary

TIGR01652
Location:133 → 1210

ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase

pfam13246
Location:593 → 669

Cation_ATPase; Cation transport ATPase (P-type)

pfam16209
Location:108 → 184

PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal

pfam16212
Location:965 → 1210

PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal

cl21460
Location:921 → 965

HAD_like; Haloacid Dehalogenase-like Hydrolases

RNA

NR_047593.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC004755, AK125969, AW444739, CD365734, DB453086, KF459576

Related

ENST00000531925.5