ATP11C ATPase phospholipid transporting 11C [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP11Cprovided by HGNC
Official Full Name: ATPase phospholipid transporting 11Cprovided by HGNC
Primary source: HGNC:HGNC:13554
See related: Ensembl:ENSG00000101974 MIM:300516; AllianceGenome:HGNC:13554
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: ATPIG; ATPIQ; HACXL
Summary: Enables phosphatidylethanolamine flippase activity and phosphatidylserine flippase activity. Predicted to be involved in phospholipid translocation; positive regulation of B cell differentiation; and pre-B cell differentiation. Located in endoplasmic reticulum and plasma membrane. Is integral component of plasma membrane. Implicated in X-linked congenital hemolytic anemia. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver (RPKM 9.4), urinary bladder (RPKM 5.9) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: Xq27.1

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (139726348..139936903, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (138038281..138248842, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (138808507..139015212, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
Title: A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
ATP11C promotes the differentiation of pre-B cells into immature B cells but does not affect their IL-7-dependent proliferation.
Title: ATP11C promotes the differentiation of pre-B cells into immature B cells but does not affect their IL-7-dependent proliferation.
Two types of type IV P-type ATPases independently re-establish the asymmetrical distribution of phosphatidylserine in plasma membranes.
Title: Two types of type IV P-type ATPases independently re-establish the asymmetrical distribution of phosphatidylserine in plasma membranes.
The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical significance in sickle cell anemia.
Title: The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical significance in sickle cell anemia.
Transport Cycle of Plasma Membrane Flippase ATP11C by Cryo-EM.
Title: Transport Cycle of Plasma Membrane Flippase ATP11C by Cryo-EM.
Reduction in flippase activity contributes to surface presentation of phosphatidylserine in human senescent erythrocytes.
Title: Reduction in flippase activity contributes to surface presentation of phosphatidylserine in human senescent erythrocytes.
Crystal structure of a human plasma membrane phospholipid flippase.
Title: Crystal structure of a human plasma membrane phospholipid flippase.
The cytoplasmic C-terminal region of the ATP11C variant determines its localization at the polarized plasma membrane.
Title: The cytoplasmic C-terminal region of the ATP11C variant determines its localization at the polarized plasma membrane.
Data show that P4-ATPase flippase complex alpha subunit ATP11C (ATP11C) was absent in the patient's erythrocyte membranes.
Title: ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking.
results indicated that the extracellular domain of CDC50A has important roles both in CDC50A's ability to chaperone ATP11C to the plasma membrane and in inducing ATP11C's ATP hydrolysis-coupled flippase activity.
Title: The CDC50A extracellular domain is required for forming a functional complex with and chaperoning phospholipid flippases to the plasma membrane.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

Go to the top of the page Help

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
X-linked congenital hemolytic anemia MedGen: C4746970 OMIM: 301015 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-85130 (e-PCR)
- UniSTS:103497

RH104108 (e-PCR)
- UniSTS:98433

NoName (e-PCR)
- UniSTS:99496

stdJ41P24T7 (e-PCR)
- UniSTS:181738

sWXD1509 (e-PCR)
- UniSTS:99579

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 ATPase-coupled intramembrane lipid transporter activity	TAS Traceable Author Statement more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylethanolamine flippase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylserine flippase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylserine floppase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aminophospholipid translocation	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	TAS Traceable Author Statement more info
involved_in phospholipid translocation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid translocation	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid translocation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	HDA more info	PubMed
part_of phospholipid-translocating ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of phospholipid-translocating ATPase complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in recycling endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: phospholipid-transporting ATPase IG

Names: ATPase, class VI, type 11C; P4-ATPase flippase complex alpha subunit ATP11C; probable phospholipid-transporting ATPase IG

NP_001010986.2

EC 7.6.2.1

NP_001340739.2

EC 7.6.2.1

NP_001340740.2

EC 7.6.2.1

NP_001340741.2

EC 7.6.2.1

NP_775965.3

EC 7.6.2.1

XP_016884938.1

EC 7.6.2.1

XP_047297972.1

EC 7.6.2.1

XP_047297973.1

EC 7.6.2.1

XP_047297974.1

EC 7.6.2.1

XP_047297975.1

EC 7.6.2.1

XP_047297976.1

EC 7.6.2.1

XP_047297977.1

EC 7.6.2.1

XP_047297978.1

EC 7.6.2.1

XP_047297979.1

EC 7.6.2.1

XP_047297980.1

EC 7.6.2.1

XP_047297981.1

EC 7.6.2.1

XP_047297982.1

EC 7.6.2.1

XP_047297983.1

EC 7.6.2.1

XP_047297984.1

EC 7.6.2.1

XP_047297985.1

EC 7.6.2.1

XP_047297986.1

EC 7.6.2.1

XP_054182860.1

EC 7.6.2.1

XP_054182861.1

EC 7.6.2.1

XP_054182862.1

EC 7.6.2.1

XP_054182863.1

EC 7.6.2.1

XP_054182864.1

EC 7.6.2.1

XP_054182865.1

EC 7.6.2.1

XP_054182866.1

EC 7.6.2.1

XP_054182867.1

EC 7.6.2.1

XP_054182868.1

EC 7.6.2.1

XP_054182869.1

EC 7.6.2.1

XP_054182870.1

EC 7.6.2.1

XP_054182871.1

EC 7.6.2.1

XP_054182872.1

EC 7.6.2.1

XP_054182873.1

EC 7.6.2.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_016550.3 RefSeqGene

Range

8850..215555

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001010986.3 → NP_001010986.2 phospholipid-transporting ATPase IG isoform b

Status: VALIDATED

Source sequence(s)

AL161777, AL356785

Consensus CDS

CCDS35410.1

UniProtKB/TrEMBL

A0A067XG54

Related

ENSP00000355165.2, ENST00000361648.6

Conserved Domains (2) summary

cd02073
Location:45 → 977

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

pfam16212
Location:865 → 1092

PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
NM_001353810.2 → NP_001340739.2 phospholipid-transporting ATPase IG isoform c

Status: VALIDATED

Source sequence(s)

AL161777, AL356785, AL590077

UniProtKB/TrEMBL

A0A067XG54

Related

ENSP00000359588.1, ENST00000370557.5

Conserved Domains (2) summary

cd02073
Location:42 → 974

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

pfam16212
Location:862 → 1089

PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
NM_001353811.2 → NP_001340740.2 phospholipid-transporting ATPase IG isoform d

Status: VALIDATED

Source sequence(s)

AL161777, AL356785, AL590077

UniProtKB/TrEMBL

A0A067XG54

Conserved Domains (2) summary

cd02073
Location:42 → 974

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

pfam16212
Location:862 → 1089

PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
NM_001353812.2 → NP_001340741.2 phospholipid-transporting ATPase IG isoform e

Status: VALIDATED

Source sequence(s)

AL161777, AL356785, AL590077

Consensus CDS

CCDS94677.1

UniProtKB/TrEMBL

A0A067XG54, A0A804HIW2

Related

ENSP00000507250.1, ENST00000682941.1

Conserved Domains (2) summary

cd02073
Location:42 → 974

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

pfam16212
Location:862 → 1089

PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
NM_173694.5 → NP_775965.3 phospholipid-transporting ATPase IG isoform a

Status: VALIDATED

Source sequence(s)

AL161777, AL356785

Consensus CDS

CCDS14668.1

UniProtKB/Swiss-Prot

Q5JT69, Q5JT70, Q5JT71, Q5JT72, Q5JT73, Q6ZND5, Q6ZU50, Q6ZUP7, Q70IJ9, Q70IK0, Q8NB49, Q8WX24

UniProtKB/TrEMBL

A0A067XG54

Related

ENSP00000332756.3, ENST00000327569.7

Conserved Domains (2) summary

cd02073
Location:45 → 977

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

pfam16212
Location:865 → 1092

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

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_000023.11 Reference GRCh38.p14 Primary Assembly

Range

139726348..139936903 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442018.1 → XP_047297974.1 phospholipid-transporting ATPase IG isoform X3
XM_047442024.1 → XP_047297980.1 phospholipid-transporting ATPase IG isoform X7
XM_047442028.1 → XP_047297984.1 phospholipid-transporting ATPase IG isoform X11
XM_047442027.1 → XP_047297983.1 phospholipid-transporting ATPase IG isoform X10
XM_047442016.1 → XP_047297972.1 phospholipid-transporting ATPase IG isoform X1
XM_047442021.1 → XP_047297977.1 phospholipid-transporting ATPase IG isoform X4

UniProtKB/TrEMBL

A0A804HIW2
XM_017029449.2 → XP_016884938.1 phospholipid-transporting ATPase IG isoform X12

Conserved Domains (4) summary

pfam13246
Location:203 → 307

Cation_ATPase; Cation transport ATPase (P-type)

pfam16212
Location:597 → 824

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

cl14615
Location:333 → 409

PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily

cl21460
Location:546 → 575

HAD_like; Haloacid Dehalogenase-like Hydrolases
XM_047442020.1 → XP_047297976.1 phospholipid-transporting ATPase IG isoform X4

UniProtKB/TrEMBL

A0A804HIW2
XM_047442029.1 → XP_047297985.1 phospholipid-transporting ATPase IG isoform X12
XM_047442019.1 → XP_047297975.1 phospholipid-transporting ATPase IG isoform X4

UniProtKB/TrEMBL

A0A804HIW2
XM_047442026.1 → XP_047297982.1 phospholipid-transporting ATPase IG isoform X9

UniProtKB/TrEMBL

H7C0E8

Related

ENSP00000394573.2, ENST00000422228.2
XM_047442023.1 → XP_047297979.1 phospholipid-transporting ATPase IG isoform X6
XM_047442025.1 → XP_047297981.1 phospholipid-transporting ATPase IG isoform X8
XM_047442017.1 → XP_047297973.1 phospholipid-transporting ATPase IG isoform X2
XM_047442022.1 → XP_047297978.1 phospholipid-transporting ATPase IG isoform X5
XM_047442030.1 → XP_047297986.1 phospholipid-transporting ATPase IG isoform X13