ATP6AP1 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	ATP6AP1
Entrez Gene ID	537
Full Name	ATPase H+ transporting accessory protein 1
Synonyms	16A,ATP6IP1,ATP6S1,Ac45,CF2,VATPS1,XAP-3,XAP3
General protein information	Preferred Names ATPase H+ transporting accessory protein 1 Names V-type proton ATPase subunit S1 ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1 ATPase, H+ transporting, lysosomal accessory protein 1 ATPase, H+ transporting, lysosomal interacting protein 1 H-ATPase subunit V-ATPase Ac45 subunit V-ATPase S1 accessory protein V-ATPase subunit S1 protein XAP-3 vacuolar proton pump subunit S1
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: X Map Location: Xq28
Summary	This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013].
Disorder MIM:	300197
Disorder Html:	Immunodeficiency 47, 300972 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001183.5	NP_001174.2	V-type proton ATPase subunit S1 precursor
NM_001183.6	NP_001174.2	V-type proton ATPase subunit S1 precursor
XM_011531179.1	XP_011529481.1	V-type proton ATPase subunit S1 isoform X1

Pathways from BioSystems

Homologies

Mus musculus (house mouse)	Atp6ap1	NP_061264.1
Danio rerio (zebrafish)	atp6ap1b	NP_775372.1
Xenopus tropicalis (tropical clawed frog)	atp6ap1.2	NP_001123842.1
Canis lupus familiaris (dog)	ATP6AP1	XP_853625.1
Danio rerio (zebrafish)	atp6ap1a	XP_001339012.3
Pan troglodytes (chimpanzee)	ATP6AP1	XP_003954169.1
Bos taurus (cattle)	ATP6AP1	NP_787000.1
Homo sapiens (human)	ATP6AP1	NP_001174.2
Rattus norvegicus (Norway rat)	Atp6ap1	NP_113973.1

Gene Ontology
Bibliography

Related articles in PubMed

Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.
Pareja F, Brandes AH, Basili T, Selenica P, Geyer FC, Fan D, Da Cruz Paula A, Kumar R, Brown DN, Gularte-Mérida R, Alemar B, Bi R, Lim RS, de Bruijn I, Fujisawa S, Gardner R, Feng E, Li A, da Silva EM, Lozada JR, Blecua P, Cohen-Gould L, Jungbluth AA, Rakha EA, Ellis IO, Edelweiss MIA, Palazzo J, Norton L, Hollmann T, Edelweiss M, Rubin BP, Weigelt B, Reis-Filho JS
Nature communications9(1)3533(2018 08)

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.
Witters P, Breckpot J, Foulquier F, Preston G, Jaeken J, Morava E
European journal of human genetics : EJHG26(5)618-621(2018 05)

Mutations in the X-linked
Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M
The Journal of experimental medicine214(12)3707-3729(2017 Dec)

The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.
Miles AL, Burr SP, Grice GL, Nathan JA
eLife6(2017 03)

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Müller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ
Nature communications711600(2016 05)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following ATP6AP1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the ATP6AP1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu56428	XM_011531179.1 Latest version!	Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1), transcript variant X1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	9-11	$139.30 $199.00
OHu09985	NM_001183.6 Latest version!	Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	5+	$69.30 $99.00
View Old Accession Versions >>
OHu09985	NM_001183.5	Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	5+	$69.30 $99.00
Hide Old Accession Versions >>

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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

ATP6AP1 ( XM_011531179.1 ) cDNA ORF clone, Homo sapiens(human) -> XP_011529481.1 Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1), transcript variant X1, mRNA.

Price & Availability↑

CloneID	OHu56428
Clone ID Related Accession (Same CDS sequence)	XM_011531179.1
Accession Version	XM_011531179.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 846bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	1575475200000
Organism	Homo sapiens(human)
Product	V-type proton ATPase subunit S1 isoform X1
Comment	Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000023.11) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Updated annotation Annotation Name :: Homo sapiens Updated Annotation Release 109.20191205 Annotation Version :: 109.20191205 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 8.3 Annotation Method :: Best-placed RefSeq; propagated RefSeq model Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

ATGGCACCCA GGGAAGTCCT CACAGGCAAC GATGAGGTCA TCGGGCAGGT CCTGAGCACA 
CTCAAGTCCG AAGATGTCCC ATACACAGCG GCCCTCACAG CGGTCCGCCC TTCCAGGGTG 
GCCCGTGATG TAGCCGTGGT GGCCGGAGGG CTAGGTCGCC AGCTGCTACA AAAACAGCCA 
GTATCACCTG TGATCCATCC TCCTGTGAGT TACAATGACA CCGCTCCCCG GATCCTGTTC 
TGGGCCCAAA ACTTCTCTGT GGCGTACAAG GACCAGTGGG AGGACCTGAC TCCCCTCACC 
TTTGGGGTGC AGGAACTCAA CCTGACTGGC TCCTTCTGGA ATGACTCCTT TGCCAGGCTC 
TCACTGACCT ATGAACGACT CTTTGGTACC ACAGTGACAT TCAAGTTCAT TCTGGCCAAC 
CGCCTCTACC CAGTGTCTGC CCGGCACTGG TTTACCATGG AGCGCCTCGA AGTCCACAGC 
AATGGCTCCG TCGCCTACTT CAATGCTTCC CAGGTCACAG GGCCCAGCAT CTACTCCTTC 
CACTGCGAGT ATGTCAGCAG CCTGAGCAAG AAGGGTAGTC TCCTCGTGGC CCGCACGCAG 
CCCTCTCCCT GGCAGATGAT GCTTCAGGAC TTCCAGATCC AGGCTTTCAA CGTAATGGGG 
GAGCAGTTCT CCTACGCCAG CGACTGTGCC AGCTTCTTCT CCCCCGGCAT CTGGATGGGG 
CTGCTCACCT CCCTGTTCAT GCTCTTCATC TTCACCTATG GCCTGCACAT GATCCTCAGC 
CTCAAGACCA TGGATCGCTT TGATGACCAC AAGGGCCCCA CTATTTCTTT GACCCAGATT 
GTGTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	XP_011529481.1
CDS	959..1804
Translation	MAPREVLTGNDEVIGQVLSTLKSEDVPYTAALTAVRPSRVARDVAVVAGGLGRQLLQKQPVSPVIHPPVSYNDTAPRILFWAQNFSVAYKDQWEDLTPLTFGVQELNLTGSFWNDSFARLSLTYERLFGTTVTFKFILANRLYPVSARHWFTMERLEVHSNGSVAYFNASQVTGPSIYSFHCEYVSSLSKKGSLLVARTQPSPWQMMLQDFQIQAFNVMGEQFSYASDCASFFSPGIWMGLLTSLFMLFIFTYGLHMILSLKTMDRFDDHKGPTISLTQIV

Target ORF information:

RefSeq Version	XM_011531179.1
Organism	Homo sapiens(human)
Definition	Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1), transcript variant X1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

XM_011531179.1

ORF Insert Sequence:

ATGGCACCCA GGGAAGTCCT CACAGGCAAC GATGAGGTCA TCGGGCAGGT CCTGAGCACA 
CTCAAGTCCG AAGATGTCCC ATACACAGCG GCCCTCACAG CGGTCCGCCC TTCCAGGGTG 
GCCCGTGATG TAGCCGTGGT GGCCGGAGGG CTAGGTCGCC AGCTGCTACA AAAACAGCCA 
GTATCACCTG TGATCCATCC TCCTGTGAGT TACAATGACA CCGCTCCCCG GATCCTGTTC 
TGGGCCCAAA ACTTCTCTGT GGCGTACAAG GACCAGTGGG AGGACCTGAC TCCCCTCACC 
TTTGGGGTGC AGGAACTCAA CCTGACTGGC TCCTTCTGGA ATGACTCCTT TGCCAGGCTC 
TCACTGACCT ATGAACGACT CTTTGGTACC ACAGTGACAT TCAAGTTCAT TCTGGCCAAC 
CGCCTCTACC CAGTGTCTGC CCGGCACTGG TTTACCATGG AGCGCCTCGA AGTCCACAGC 
AATGGCTCCG TCGCCTACTT CAATGCTTCC CAGGTCACAG GGCCCAGCAT CTACTCCTTC 
CACTGCGAGT ATGTCAGCAG CCTGAGCAAG AAGGGTAGTC TCCTCGTGGC CCGCACGCAG 
CCCTCTCCCT GGCAGATGAT GCTTCAGGAC TTCCAGATCC AGGCTTTCAA CGTAATGGGG 
GAGCAGTTCT CCTACGCCAG CGACTGTGCC AGCTTCTTCT CCCCCGGCAT CTGGATGGGG 
CTGCTCACCT CCCTGTTCAT GCTCTTCATC TTCACCTATG GCCTGCACAT GATCCTCAGC 
CTCAAGACCA TGGATCGCTT TGATGACCAC AAGGGCCCCA CTATTTCTTT GACCCAGATT 
GTGTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

ATP6AP1 ( NM_001183.5 ) cDNA ORF clone, Homo sapiens(human) -> NP_001174.2 Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1), mRNA.

Price & Availability↑

CloneID	OHu09985
Clone ID Related Accession (Same CDS sequence)	NM_001183.5 , NM_001183.6
Accession Version	NM_001183.5	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1413bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	1506787200000
Organism	Homo sapiens(human)
Product	V-type proton ATPase subunit S1 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA921677.1, AK289452.1, AK075284.1 and DB569252.1. This sequence is a reference standard in the RefSeqGene project. On Aug 18, 2013 this sequence version replaced NM_001183.4. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGATGGCGG CCATGGCGAC GGCTCGAGTG CGGATGGGGC CGCGGTGCGC CCAGGCGCTC 
TGGCGCATGC CGTGGCTGCC GGTGTTTTTG TCGTTGGCGG CGGCGGCGGC GGCGGCAGCG 
GCGGAGCAGC AGGTCCCGCT GGTGCTGTGG TCGAGTGACC GGGACTTGTG GGCTCCTGCG 
GCCGACACTC ATGAAGGCCA CATCACCAGC GACTTGCAGC TCTCTACCTA CTTAGATCCC 
GCCCTGGAGC TGGGTCCCAG GAATGTGCTG CTGTTCCTGC AGGACAAGCT GAGCATTGAG 
GATTTCACAG CATATGGCGG TGTGTTTGGA AACAAGCAGG ACAGCGCCTT TTCTAACCTA 
GAGAATGCCC TGGACCTGGC CCCCTCCTCA CTGGTGCTTC CTGCCGTCGA CTGGTATGCA 
GTCAGCACTC TGACCACTTA CCTGCAGGAG AAGCTCGGGG CCAGCCCCTT GCATGTGGAC 
CTGGCCACCC TGCGGGAGCT GAAGCTCAAT GCCAGCCTCC CTGCTCTGCT GCTCATTCGC 
CTGCCCTACA CAGCCAGCTC TGGTCTGATG GCACCCAGGG AAGTCCTCAC AGGCAACGAT 
GAGGTCATCG GGCAGGTCCT GAGCACACTC AAGTCCGAAG ATGTCCCATA CACAGCGGCC 
CTCACAGCGG TCCGCCCTTC CAGGGTGGCC CGTGATGTAG CCGTGGTGGC CGGAGGGCTA 
GGTCGCCAGC TGCTACAAAA ACAGCCAGTA TCACCTGTGA TCCATCCTCC TGTGAGTTAC 
AATGACACCG CTCCCCGGAT CCTGTTCTGG GCCCAAAACT TCTCTGTGGC GTACAAGGAC 
CAGTGGGAGG ACCTGACTCC CCTCACCTTT GGGGTGCAGG AACTCAACCT GACTGGCTCC 
TTCTGGAATG ACTCCTTTGC CAGGCTCTCA CTGACCTATG AACGACTCTT TGGTACCACA 
GTGACATTCA AGTTCATTCT GGCCAACCGC CTCTACCCAG TGTCTGCCCG GCACTGGTTT 
ACCATGGAGC GCCTCGAAGT CCACAGCAAT GGCTCCGTCG CCTACTTCAA TGCTTCCCAG 
GTCACAGGGC CCAGCATCTA CTCCTTCCAC TGCGAGTATG TCAGCAGCCT GAGCAAGAAG 
GGTAGTCTCC TCGTGGCCCG CACGCAGCCC TCTCCCTGGC AGATGATGCT TCAGGACTTC 
CAGATCCAGG CTTTCAACGT AATGGGGGAG CAGTTCTCCT ACGCCAGCGA CTGTGCCAGC 
TTCTTCTCCC CCGGCATCTG GATGGGGCTG CTCACCTCCC TGTTCATGCT CTTCATCTTC 
ACCTATGGCC TGCACATGAT CCTCAGCCTC AAGACCATGG ATCGCTTTGA TGACCACAAG 
GGCCCCACTA TTTCTTTGAC CCAGATTGTG TGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001174.2
CDS	62..1474
Translation	MMAAMATARVRMGPRCAQALWRMPWLPVFLSLAAAAAAAAAEQQVPLVLWSSDRDLWAPAADTHEGHITSDLQLSTYLDPALELGPRNVLLFLQDKLSIEDFTAYGGVFGNKQDSAFSNLENALDLAPSSLVLPAVDWYAVSTLTTYLQEKLGASPLHVDLATLRELKLNASLPALLLIRLPYTASSGLMAPREVLTGNDEVIGQVLSTLKSEDVPYTAALTAVRPSRVARDVAVVAGGLGRQLLQKQPVSPVIHPPVSYNDTAPRILFWAQNFSVAYKDQWEDLTPLTFGVQELNLTGSFWNDSFARLSLTYERLFGTTVTFKFILANRLYPVSARHWFTMERLEVHSNGSVAYFNASQVTGPSIYSFHCEYVSSLSKKGSLLVARTQPSPWQMMLQDFQIQAFNVMGEQFSYASDCASFFSPGIWMGLLTSLFMLFIFTYGLHMILSLKTMDRFDDHKGPTISLTQIV

Target ORF information:

RefSeq Version	NM_001183.5
Organism	Homo sapiens(human)
Definition	Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001183.5

ORF Insert Sequence:

ATGATGGCGG CCATGGCGAC GGCTCGAGTG CGGATGGGGC CGCGGTGCGC CCAGGCGCTC 
TGGCGCATGC CGTGGCTGCC GGTGTTTTTG TCGTTGGCGG CGGCGGCGGC GGCGGCAGCG 
GCGGAGCAGC AGGTCCCGCT GGTGCTGTGG TCGAGTGACC GGGACTTGTG GGCTCCTGCG 
GCCGACACTC ATGAAGGCCA CATCACCAGC GACTTGCAGC TCTCTACCTA CTTAGATCCC 
GCCCTGGAGC TGGGTCCCAG GAATGTGCTG CTGTTCCTGC AGGACAAGCT GAGCATTGAG 
GATTTCACAG CATATGGCGG TGTGTTTGGA AACAAGCAGG ACAGCGCCTT TTCTAACCTA 
GAGAATGCCC TGGACCTGGC CCCCTCCTCA CTGGTGCTTC CTGCCGTCGA CTGGTATGCA 
GTCAGCACTC TGACCACTTA CCTGCAGGAG AAGCTCGGGG CCAGCCCCTT GCATGTGGAC 
CTGGCCACCC TGCGGGAGCT GAAGCTCAAT GCCAGCCTCC CTGCTCTGCT GCTCATTCGC 
CTGCCCTACA CAGCCAGCTC TGGTCTGATG GCACCCAGGG AAGTCCTCAC AGGCAACGAT 
GAGGTCATCG GGCAGGTCCT GAGCACACTC AAGTCCGAAG ATGTCCCATA CACAGCGGCC 
CTCACAGCGG TCCGCCCTTC CAGGGTGGCC CGTGATGTAG CCGTGGTGGC CGGAGGGCTA 
GGTCGCCAGC TGCTACAAAA ACAGCCAGTA TCACCTGTGA TCCATCCTCC TGTGAGTTAC 
AATGACACCG CTCCCCGGAT CCTGTTCTGG GCCCAAAACT TCTCTGTGGC GTACAAGGAC 
CAGTGGGAGG ACCTGACTCC CCTCACCTTT GGGGTGCAGG AACTCAACCT GACTGGCTCC 
TTCTGGAATG ACTCCTTTGC CAGGCTCTCA CTGACCTATG AACGACTCTT TGGTACCACA 
GTGACATTCA AGTTCATTCT GGCCAACCGC CTCTACCCAG TGTCTGCCCG GCACTGGTTT 
ACCATGGAGC GCCTCGAAGT CCACAGCAAT GGCTCCGTCG CCTACTTCAA TGCTTCCCAG 
GTCACAGGGC CCAGCATCTA CTCCTTCCAC TGCGAGTATG TCAGCAGCCT GAGCAAGAAG 
GGTAGTCTCC TCGTGGCCCG CACGCAGCCC TCTCCCTGGC AGATGATGCT TCAGGACTTC 
CAGATCCAGG CTTTCAACGT AATGGGGGAG CAGTTCTCCT ACGCCAGCGA CTGTGCCAGC 
TTCTTCTCCC CCGGCATCTG GATGGGGCTG CTCACCTCCC TGTTCATGCT CTTCATCTTC 
ACCTATGGCC TGCACATGAT CCTCAGCCTC AAGACCATGG ATCGCTTTGA TGACCACAAG 
GGCCCCACTA TTTCTTTGAC CCAGATTGTG TGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

ATP6AP1 ( NM_001183.6 ) cDNA ORF clone, Homo sapiens(human) -> NP_001174.2 Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1), mRNA.

Price & Availability↑

CloneID	OHu09985
Clone ID Related Accession (Same CDS sequence)	NM_001183.5 , NM_001183.6
Accession Version	NM_001183.6 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1413bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	1570550400000
Organism	Homo sapiens(human)
Product	V-type proton ATPase subunit S1 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK289452.1 and AK075284.1. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_001183.5. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK075284.1, SRR3476690.1157456.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000369762.7/ ENSP00000358777.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGATGGCGG CCATGGCGAC GGCTCGAGTG CGGATGGGGC CGCGGTGCGC CCAGGCGCTC 
TGGCGCATGC CGTGGCTGCC GGTGTTTTTG TCGTTGGCGG CGGCGGCGGC GGCGGCAGCG 
GCGGAGCAGC AGGTCCCGCT GGTGCTGTGG TCGAGTGACC GGGACTTGTG GGCTCCTGCG 
GCCGACACTC ATGAAGGCCA CATCACCAGC GACTTGCAGC TCTCTACCTA CTTAGATCCC 
GCCCTGGAGC TGGGTCCCAG GAATGTGCTG CTGTTCCTGC AGGACAAGCT GAGCATTGAG 
GATTTCACAG CATATGGCGG TGTGTTTGGA AACAAGCAGG ACAGCGCCTT TTCTAACCTA 
GAGAATGCCC TGGACCTGGC CCCCTCCTCA CTGGTGCTTC CTGCCGTCGA CTGGTATGCA 
GTCAGCACTC TGACCACTTA CCTGCAGGAG AAGCTCGGGG CCAGCCCCTT GCATGTGGAC 
CTGGCCACCC TGCGGGAGCT GAAGCTCAAT GCCAGCCTCC CTGCTCTGCT GCTCATTCGC 
CTGCCCTACA CAGCCAGCTC TGGTCTGATG GCACCCAGGG AAGTCCTCAC AGGCAACGAT 
GAGGTCATCG GGCAGGTCCT GAGCACACTC AAGTCCGAAG ATGTCCCATA CACAGCGGCC 
CTCACAGCGG TCCGCCCTTC CAGGGTGGCC CGTGATGTAG CCGTGGTGGC CGGAGGGCTA 
GGTCGCCAGC TGCTACAAAA ACAGCCAGTA TCACCTGTGA TCCATCCTCC TGTGAGTTAC 
AATGACACCG CTCCCCGGAT CCTGTTCTGG GCCCAAAACT TCTCTGTGGC GTACAAGGAC 
CAGTGGGAGG ACCTGACTCC CCTCACCTTT GGGGTGCAGG AACTCAACCT GACTGGCTCC 
TTCTGGAATG ACTCCTTTGC CAGGCTCTCA CTGACCTATG AACGACTCTT TGGTACCACA 
GTGACATTCA AGTTCATTCT GGCCAACCGC CTCTACCCAG TGTCTGCCCG GCACTGGTTT 
ACCATGGAGC GCCTCGAAGT CCACAGCAAT GGCTCCGTCG CCTACTTCAA TGCTTCCCAG 
GTCACAGGGC CCAGCATCTA CTCCTTCCAC TGCGAGTATG TCAGCAGCCT GAGCAAGAAG 
GGTAGTCTCC TCGTGGCCCG CACGCAGCCC TCTCCCTGGC AGATGATGCT TCAGGACTTC 
CAGATCCAGG CTTTCAACGT AATGGGGGAG CAGTTCTCCT ACGCCAGCGA CTGTGCCAGC 
TTCTTCTCCC CCGGCATCTG GATGGGGCTG CTCACCTCCC TGTTCATGCT CTTCATCTTC 
ACCTATGGCC TGCACATGAT CCTCAGCCTC AAGACCATGG ATCGCTTTGA TGACCACAAG 
GGCCCCACTA TTTCTTTGAC CCAGATTGTG TGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001174.2
CDS	17..1429
Translation	MMAAMATARVRMGPRCAQALWRMPWLPVFLSLAAAAAAAAAEQQVPLVLWSSDRDLWAPAADTHEGHITSDLQLSTYLDPALELGPRNVLLFLQDKLSIEDFTAYGGVFGNKQDSAFSNLENALDLAPSSLVLPAVDWYAVSTLTTYLQEKLGASPLHVDLATLRELKLNASLPALLLIRLPYTASSGLMAPREVLTGNDEVIGQVLSTLKSEDVPYTAALTAVRPSRVARDVAVVAGGLGRQLLQKQPVSPVIHPPVSYNDTAPRILFWAQNFSVAYKDQWEDLTPLTFGVQELNLTGSFWNDSFARLSLTYERLFGTTVTFKFILANRLYPVSARHWFTMERLEVHSNGSVAYFNASQVTGPSIYSFHCEYVSSLSKKGSLLVARTQPSPWQMMLQDFQIQAFNVMGEQFSYASDCASFFSPGIWMGLLTSLFMLFIFTYGLHMILSLKTMDRFDDHKGPTISLTQIV

Target ORF information:

RefSeq Version	NM_001183.6
Organism	Homo sapiens(human)
Definition	Homo sapiens ATPase H+ transporting accessory protein 1 (ATP6AP1), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001183.6

ORF Insert Sequence:

ATGATGGCGG CCATGGCGAC GGCTCGAGTG CGGATGGGGC CGCGGTGCGC CCAGGCGCTC 
TGGCGCATGC CGTGGCTGCC GGTGTTTTTG TCGTTGGCGG CGGCGGCGGC GGCGGCAGCG 
GCGGAGCAGC AGGTCCCGCT GGTGCTGTGG TCGAGTGACC GGGACTTGTG GGCTCCTGCG 
GCCGACACTC ATGAAGGCCA CATCACCAGC GACTTGCAGC TCTCTACCTA CTTAGATCCC 
GCCCTGGAGC TGGGTCCCAG GAATGTGCTG CTGTTCCTGC AGGACAAGCT GAGCATTGAG 
GATTTCACAG CATATGGCGG TGTGTTTGGA AACAAGCAGG ACAGCGCCTT TTCTAACCTA 
GAGAATGCCC TGGACCTGGC CCCCTCCTCA CTGGTGCTTC CTGCCGTCGA CTGGTATGCA 
GTCAGCACTC TGACCACTTA CCTGCAGGAG AAGCTCGGGG CCAGCCCCTT GCATGTGGAC 
CTGGCCACCC TGCGGGAGCT GAAGCTCAAT GCCAGCCTCC CTGCTCTGCT GCTCATTCGC 
CTGCCCTACA CAGCCAGCTC TGGTCTGATG GCACCCAGGG AAGTCCTCAC AGGCAACGAT 
GAGGTCATCG GGCAGGTCCT GAGCACACTC AAGTCCGAAG ATGTCCCATA CACAGCGGCC 
CTCACAGCGG TCCGCCCTTC CAGGGTGGCC CGTGATGTAG CCGTGGTGGC CGGAGGGCTA 
GGTCGCCAGC TGCTACAAAA ACAGCCAGTA TCACCTGTGA TCCATCCTCC TGTGAGTTAC 
AATGACACCG CTCCCCGGAT CCTGTTCTGG GCCCAAAACT TCTCTGTGGC GTACAAGGAC 
CAGTGGGAGG ACCTGACTCC CCTCACCTTT GGGGTGCAGG AACTCAACCT GACTGGCTCC 
TTCTGGAATG ACTCCTTTGC CAGGCTCTCA CTGACCTATG AACGACTCTT TGGTACCACA 
GTGACATTCA AGTTCATTCT GGCCAACCGC CTCTACCCAG TGTCTGCCCG GCACTGGTTT 
ACCATGGAGC GCCTCGAAGT CCACAGCAAT GGCTCCGTCG CCTACTTCAA TGCTTCCCAG 
GTCACAGGGC CCAGCATCTA CTCCTTCCAC TGCGAGTATG TCAGCAGCCT GAGCAAGAAG 
GGTAGTCTCC TCGTGGCCCG CACGCAGCCC TCTCCCTGGC AGATGATGCT TCAGGACTTC 
CAGATCCAGG CTTTCAACGT AATGGGGGAG CAGTTCTCCT ACGCCAGCGA CTGTGCCAGC 
TTCTTCTCCC CCGGCATCTG GATGGGGCTG CTCACCTCCC TGTTCATGCT CTTCATCTTC 
ACCTATGGCC TGCACATGAT CCTCAGCCTC AAGACCATGG ATCGCTTTGA TGACCACAAG 
GGCCCCACTA TTTCTTTGAC CCAGATTGTG TGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.
Nature communications9(1)3533(2018 08)
Pareja F,Brandes AH,Basili T,Selenica P,Geyer FC,Fan D,Da Cruz Paula A,Kumar R,Brown DN,Gularte-Mérida R,Alemar B,Bi R,Lim RS,de Bruijn I,Fujisawa S,Gardner R,Feng E,Li A,da Silva EM,Lozada JR,Blecua P,Cohen-Gould L,Jungbluth AA,Rakha EA,Ellis IO,Edelweiss MIA,Palazzo J,Norton L,Hollmann T,Edelweiss M,Rubin BP,Weigelt B,Reis-Filho JS

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.
European journal of human genetics : EJHG26(5)618-621(2018 05)
Witters P,Breckpot J,Foulquier F,Preston G,Jaeken J,Morava E

Mutations in the X-linked
The Journal of experimental medicine214(12)3707-3729(2017 Dec)
Rujano MA,Cannata Serio M,Panasyuk G,Péanne R,Reunert J,Rymen D,Hauser V,Park JH,Freisinger P,Souche E,Guida MC,Maier EM,Wada Y,Jäger S,Krogan NJ,Kretz O,Nobre S,Garcia P,Quelhas D,Bird TD,Raskind WH,Schwake M,Duvet S,Foulquier F,Matthijs G,Marquardt T,Simons M

The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.
eLife6(2017 03)
Miles AL,Burr SP,Grice GL,Nathan JA

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Nature communications711600(2016 05)
Jansen EJ,Timal S,Ryan M,Ashikov A,van Scherpenzeel M,Graham LA,Mandel H,Hoischen A,Iancu TC,Raymond K,Steenbergen G,Gilissen C,Huijben K,van Bakel NH,Maeda Y,Rodenburg RJ,Adamowicz M,Crushell E,Koenen H,Adams D,Vodopiutz J,Greber-Platzer S,Müller T,Dueckers G,Morava E,Sykut-Cegielska J,Martens GJ,Wevers RA,Niehues T,Huynen MA,Veltman JA,Stevens TH,Lefeber DJ

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ATP6AP1 cDNA ORF clone, Homo sapiens(human)

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