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

Gene ID: 148229, updated on 25-Nov-2021

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
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
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Genomic context

See ATP8B3 in Genome Data Viewer
Location:
19p13.3
Exon count:
29
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (1782075..1812276, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1782074..1812275, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1223, pseudogene Neighboring gene transcription factor 3 Neighboring gene uncharacterized LOC101928543 Neighboring gene one cut homeobox 3 Neighboring gene Sharpr-MPRA regulatory region 3984 Neighboring gene uncharacterized LOC100288123 Neighboring gene microRNA 1909 Neighboring gene RNA exonuclease 1 homolog

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATPase-coupled intramembrane lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in binding of sperm to zona pellucida IEA
Inferred from Electronic Annotation
more info
 
involved_in phospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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
NP_620168.1

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)

  1. NM_001178002.3NP_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:801173
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam13246
    Location:546622
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:55131
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:9281173
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:884928
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. NM_138813.4NP_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
    Related
    ENSP00000311336.6, ENST00000310127.10
    Conserved Domains (5) summary
    TIGR01652
    Location:1331210
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam13246
    Location:593669
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:108184
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:9651210
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:921965
    HAD_like; Haloacid Dehalogenase-like Hydrolases

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    1782075..1812276 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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