ATP6V1C1 (ATPase H+ transporting V1 subunit C1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ATP6V1C1 (ATPase H+ transporting V1 subunit C1) Homo sapiens
Analyze
Symbol: ATP6V1C1
Name: ATPase H+ transporting V1 subunit C1
RGD ID: 1322350
HGNC Page HGNC
Description: Predicted to have proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in several processes, including insulin receptor signaling pathway; phagosome acidification; and transferrin transport. Localizes to extracellular exosome and lysosomal membrane. Biomarker of oral squamous cell carcinoma and stomach carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP6C; ATP6D; ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1; FLJ20057; H(+)-transporting two-sector ATPase, subunit C; H+ -ATPase C subunit; H+-transporting ATPase chain C, vacuolar; subunit C of vacuolar proton-ATPase V1 domain; testicular tissue protein Li 223; V-ATPase C subunit; V-ATPase subunit C 1; V-type proton ATPase subunit C 1; vacuolar ATP synthase subunit C; vacuolar proton pump C subunit; vacuolar proton pump subunit C 1; vacuolar proton pump, 42-kD subunit; vacuolar proton-ATPase, subunit C, VI domain; VATC; Vma5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8103,021,063 - 103,073,051 (+)EnsemblGRCh38hg38GRCh38
GRCh388103,021,083 - 103,073,051 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378104,033,311 - 104,085,279 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368104,102,424 - 104,154,461 (+)NCBINCBI36hg18NCBI36
Build 348104,102,444 - 104,154,460NCBI
Celera8100,220,060 - 100,272,082 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef899,233,896 - 99,286,052 (+)NCBIHuRef
CHM1_18104,074,301 - 104,126,315 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2147024   PMID:2874839   PMID:8250920   PMID:9210392   PMID:9442887   PMID:10221984   PMID:10224039   PMID:10340843   PMID:10440860   PMID:11752456   PMID:11836511   PMID:12477932  
PMID:12788495   PMID:12890556   PMID:14580332   PMID:14597263   PMID:14702039   PMID:15489334   PMID:16344560   PMID:16415858   PMID:17207965   PMID:17662945   PMID:17897319   PMID:19056867  
PMID:20379614   PMID:20819778   PMID:21526910   PMID:21674799   PMID:21873635   PMID:22863883   PMID:22939629   PMID:22982048   PMID:23376485   PMID:24454753   PMID:25416956   PMID:25901422  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:28504970   PMID:28514442   PMID:29509190   PMID:30463901   PMID:30781750   PMID:31527615   PMID:31901859   PMID:33183740  


Genomics

Comparative Map Data
ATP6V1C1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8103,021,063 - 103,073,051 (+)EnsemblGRCh38hg38GRCh38
GRCh388103,021,083 - 103,073,051 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378104,033,311 - 104,085,279 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368104,102,424 - 104,154,461 (+)NCBINCBI36hg18NCBI36
Build 348104,102,444 - 104,154,460NCBI
Celera8100,220,060 - 100,272,082 (+)NCBI
Cytogenetic Map8q22.3NCBI
HuRef899,233,896 - 99,286,052 (+)NCBIHuRef
CHM1_18104,074,301 - 104,126,315 (+)NCBICHM1_1
Atp6v1c1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391538,662,096 - 38,692,688 (+)NCBIGRCm39mm39
GRCm39 Ensembl1538,662,177 - 38,692,690 (+)Ensembl
GRCm381538,661,904 - 38,692,444 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1538,661,933 - 38,692,446 (+)EnsemblGRCm38mm10GRCm38
MGSCv371538,591,659 - 38,622,199 (+)NCBIGRCm37mm9NCBIm37
MGSCv361538,606,543 - 38,636,472 (+)NCBImm8
Celera1539,288,003 - 39,318,453 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
Atp6v1c1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2769,834,464 - 69,872,278 (+)NCBI
Rnor_6.0 Ensembl777,678,968 - 77,716,408 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0777,678,853 - 77,716,658 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0778,536,306 - 78,574,105 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4774,341,301 - 74,378,806 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1774,362,030 - 74,399,537 (+)NCBI
Celera766,891,594 - 66,929,033 (+)NCBICelera
Cytogenetic Map7q22NCBI
Atp6v1c1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541727,356,483 - 27,375,747 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541727,340,916 - 27,376,541 (+)NCBIChiLan1.0ChiLan1.0
ATP6V1C1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18101,832,538 - 101,883,956 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8101,832,538 - 101,883,956 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0899,521,146 - 99,725,603 (+)NCBIMhudiblu_PPA_v0panPan3
ATP6V1C1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1134,509,699 - 4,569,500 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl134,510,003 - 4,579,846 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha134,513,182 - 4,573,038 (+)NCBI
ROS_Cfam_1.0134,672,415 - 4,733,419 (+)NCBI
UMICH_Zoey_3.1134,514,303 - 4,574,155 (+)NCBI
UNSW_CanFamBas_1.0134,631,627 - 4,691,637 (+)NCBI
UU_Cfam_GSD_1.0134,644,765 - 4,704,650 (+)NCBI
Atp6v1c1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530333,200,336 - 33,249,336 (-)NCBI
SpeTri2.0NW_00493647040,626,523 - 40,675,435 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP6V1C1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl434,026,192 - 34,222,405 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1434,033,943 - 34,084,990 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2436,887,066 - 36,917,862 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATP6V1C1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1897,878,970 - 97,930,552 (+)NCBI
ChlSab1.1 Ensembl897,879,019 - 97,926,263 (+)Ensembl
Vero_WHO_p1.0NW_02366603942,670,781 - 42,722,372 (-)NCBI
Atp6v1c1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476319,726,883 - 19,769,247 (+)NCBI

Position Markers
SHGC-2582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,081,320 - 104,081,477UniSTSGRCh37
Build 368104,150,496 - 104,150,653RGDNCBI36
Celera8100,268,117 - 100,268,274RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,282,087 - 99,282,244UniSTS
TNG Radiation Hybrid Map836137.0UniSTS
GeneMap99-G3 RH Map82973.0UniSTS
RH78580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,082,306 - 104,082,428UniSTSGRCh37
Build 368104,151,482 - 104,151,604RGDNCBI36
Celera8100,269,103 - 100,269,225RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,283,073 - 99,283,195UniSTS
GeneMap99-GB4 RH Map8438.39UniSTS
NCBI RH Map81016.3UniSTS
STS-N33243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,085,102 - 104,085,254UniSTSGRCh37
Build 368104,154,278 - 104,154,430RGDNCBI36
Celera8100,271,899 - 100,272,051RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,285,869 - 99,286,021UniSTS
GeneMap99-GB4 RH Map8439.83UniSTS
D8S1610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,080,984 - 104,081,094UniSTSGRCh37
Build 368104,150,160 - 104,150,270RGDNCBI36
Celera8100,267,781 - 100,267,891RGD
Cytogenetic Map8q22.3UniSTS
HuRef899,281,751 - 99,281,861UniSTS
GeneMap99-GB4 RH Map8438.32UniSTS
Whitehead-RH Map8573.9UniSTS
NCBI RH Map81079.9UniSTS
ATP6V1C1__4398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378104,080,909 - 104,081,619UniSTSGRCh37
Build 368104,150,085 - 104,150,795RGDNCBI36
Celera8100,267,706 - 100,268,416RGD
HuRef899,281,676 - 99,282,386UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2459
Count of miRNA genes:997
Interacting mature miRNAs:1170
Transcripts:ENST00000395862, ENST00000518738, ENST00000518857, ENST00000518959, ENST00000521514, ENST00000521671
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2312 2139 1533 420 1665 281 3591 1128 3398 402 1452 1610 155 1 1202 2068 6 2
Low 127 852 193 204 286 184 766 1069 336 17 8 3 20 2 720
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA242944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB045776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF363578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL707882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU137773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV649881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW505309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX399853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI821321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J05682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000395862   ⟹   ENSP00000379203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,021,063 - 103,073,051 (+)Ensembl
RefSeq Acc Id: ENST00000518738   ⟹   ENSP00000430282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,021,083 - 103,073,051 (+)Ensembl
RefSeq Acc Id: ENST00000518857   ⟹   ENSP00000428204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,021,063 - 103,069,179 (+)Ensembl
RefSeq Acc Id: ENST00000518959
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,064,560 - 103,068,825 (+)Ensembl
RefSeq Acc Id: ENST00000521514   ⟹   ENSP00000430129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,021,088 - 103,069,076 (+)Ensembl
RefSeq Acc Id: ENST00000521671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,051,117 - 103,063,270 (+)Ensembl
RefSeq Acc Id: NM_001695   ⟹   NP_001686
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,021,083 - 103,073,051 (+)NCBI
GRCh378104,033,248 - 104,085,285 (+)NCBI
Build 368104,102,424 - 104,154,461 (+)NCBI Archive
Celera8100,220,060 - 100,272,082 (+)RGD
HuRef899,233,896 - 99,286,052 (+)RGD
CHM1_18104,074,301 - 104,126,315 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001686   ⟸   NM_001695
- UniProtKB: P21283 (UniProtKB/Swiss-Prot),   A0A024R9I0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000428204   ⟸   ENST00000518857
RefSeq Acc Id: ENSP00000430282   ⟸   ENST00000518738
RefSeq Acc Id: ENSP00000430129   ⟸   ENST00000521514
RefSeq Acc Id: ENSP00000379203   ⟸   ENST00000395862

Promoters
RGD ID:7213937
Promoter ID:EPDNEW_H12714
Type:initiation region
Name:ATP6V1C1_1
Description:ATPase H+ transporting V1 subunit C1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,021,083 - 103,021,143EPDNEW
RGD ID:6806508
Promoter ID:HG_KWN:61849
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001695,   UC003YLA.1,   UC010MBZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368104,102,181 - 104,102,681 (+)MPROMDB
RGD ID:6850794
Promoter ID:EP73191
Type:initiation region
Name:HS_ATP6V1C1
Description:ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 368104,102,487 - 104,102,547EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3 copy number gain See cases [RCV000050760] Chr8:101962098..103357772 [GRCh38]
Chr8:102974326..104370000 [GRCh37]
Chr8:103043502..104439176 [NCBI36]
Chr8:8q22.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 copy number loss See cases [RCV000136812] Chr8:101199826..105802098 [GRCh38]
Chr8:102212054..106814326 [GRCh37]
Chr8:102281230..106883502 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:102590127-104034598)x1 copy number loss See cases [RCV000511503] Chr8:102590127..104034598 [GRCh37]
Chr8:8q22.3
likely pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:102584167-104236192)x1 copy number loss not provided [RCV000683013] Chr8:102584167..104236192 [GRCh37]
Chr8:8q22.3
likely pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:103950997-104487840)x3 copy number gain not provided [RCV000747746] Chr8:103950997..104487840 [GRCh37]
Chr8:8q22.3
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:856 AgrOrtholog
COSMIC ATP6V1C1 COSMIC
Ensembl Genes ENSG00000155097 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000379203 UniProtKB/Swiss-Prot
  ENSP00000428204 UniProtKB/TrEMBL
  ENSP00000430129 UniProtKB/TrEMBL
  ENSP00000430282 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000395862 UniProtKB/Swiss-Prot
  ENST00000518738 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518857 UniProtKB/TrEMBL
  ENST00000521514 UniProtKB/TrEMBL
GTEx ENSG00000155097 GTEx
HGNC ID HGNC:856 ENTREZGENE
Human Proteome Map ATP6V1C1 Human Proteome Map
InterPro ATPase_V1-cplx_csu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vac_ATP_synth_c_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:528 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 528 ENTREZGENE
OMIM 603097 OMIM
PANTHER PTHR10137 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam V-ATPase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25156 PharmGKB
Superfamily-SCOP SSF118203 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9I0 ENTREZGENE, UniProtKB/TrEMBL
  E7EV59_HUMAN UniProtKB/TrEMBL
  P21283 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP6V1C1  ATPase H+ transporting V1 subunit C1  ATP6V1C1  ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1  Symbol and/or name change 5135510 APPROVED