Full text data of ATP6V1D
ATP6V1D
(ATP6M, VATD)
[Confidence: low (only semi-automatic identification from reviews)]
V-type proton ATPase subunit D; V-ATPase subunit D (V-ATPase 28 kDa accessory protein; Vacuolar proton pump subunit D)
V-type proton ATPase subunit D; V-ATPase subunit D (V-ATPase 28 kDa accessory protein; Vacuolar proton pump subunit D)
UniProt
Q9Y5K8
ID VATD_HUMAN Reviewed; 247 AA.
AC Q9Y5K8; B2RE33; Q9Y688;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-NOV-1999, sequence version 1.
DT 22-JAN-2014, entry version 123.
DE RecName: Full=V-type proton ATPase subunit D;
DE Short=V-ATPase subunit D;
DE AltName: Full=V-ATPase 28 kDa accessory protein;
DE AltName: Full=Vacuolar proton pump subunit D;
GN Name=ATP6V1D; Synonyms=ATP6M, VATD;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Heart;
RA Zhao Y., Cao H.Q., Wei Y.J., Jiang Y.X., Zhao X.W., Liu D.Q.,
RA Meng X.M., Liu Y.Q., Xu Y.Y., Sheng H., Liu S., Qiao M., Hui R.T.,
RA Ding J.F.;
RL Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pituitary;
RX PubMed=10931946; DOI=10.1073/pnas.160270997;
RA Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
RA Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H.,
RA Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J.,
RA Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M.,
RA Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.;
RT "Gene expression profiling in the human hypothalamus-pituitary-adrenal
RT axis and full-length cDNA cloning.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain;
RA Quan L., Hong W., Shizhou A.;
RT "cDNA of human vacuolar H-ATPase subunit D (VATD) interacts with Rb.";
RL Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP FUNCTION IN CILIOGENESIS, INTERACTION WITH SNX10, AND SUBCELLULAR
RP LOCATION.
RX PubMed=21844891; DOI=10.1038/cr.2011.134;
RA Chen Y., Wu B., Xu L., Li H., Xia J., Yin W., Li Z., Shi D., Li S.,
RA Lin S., Shu X., Pei D.;
RT "A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in
RT vivo.";
RL Cell Res. 22:333-345(2012).
CC -!- FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase.
CC Vacuolar ATPase is responsible for acidifying a variety of
CC intracellular compartments in eukaryotic cells, thus providing
CC most of the energy required for transport processes in the
CC vacuolar system (By similarity). May play a role in cilium
CC biogenesis through regulation of the transport and the
CC localization of proteins to the cilium.
CC -!- SUBUNIT: V-ATPase is a heteromultimeric enzyme composed of a
CC peripheral catalytic V1 complex (components A to H) attached to an
CC integral membrane V0 proton pore complex (components: a, c, c',
CC c'' and d). Interacts with SNX10; may play a role in ciliogenesis.
CC -!- SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein;
CC Cytoplasmic side (Probable). Note=Localizes to centrosome and the
CC base of the cilium.
CC -!- SIMILARITY: Belongs to the V-ATPase D subunit family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AF145316; AAD33953.1; -; mRNA.
DR EMBL; AF100741; AAD40384.1; -; mRNA.
DR EMBL; AF104629; AAG30726.1; -; mRNA.
DR EMBL; AK315784; BAG38130.1; -; mRNA.
DR EMBL; CH471061; EAW80931.1; -; Genomic_DNA.
DR EMBL; BC001411; AAH01411.1; -; mRNA.
DR RefSeq; NP_057078.1; NM_015994.3.
DR UniGene; Hs.272630; -.
DR ProteinModelPortal; Q9Y5K8; -.
DR SMR; Q9Y5K8; 8-208.
DR IntAct; Q9Y5K8; 5.
DR STRING; 9606.ENSP00000216442; -.
DR PhosphoSite; Q9Y5K8; -.
DR DMDM; 10720351; -.
DR PaxDb; Q9Y5K8; -.
DR PeptideAtlas; Q9Y5K8; -.
DR PRIDE; Q9Y5K8; -.
DR DNASU; 51382; -.
DR Ensembl; ENST00000216442; ENSP00000216442; ENSG00000100554.
DR Ensembl; ENST00000554087; ENSP00000451167; ENSG00000100554.
DR GeneID; 51382; -.
DR KEGG; hsa:51382; -.
DR UCSC; uc001xjf.3; human.
DR CTD; 51382; -.
DR GeneCards; GC14M067804; -.
DR HGNC; HGNC:13527; ATP6V1D.
DR HPA; HPA031515; -.
DR MIM; 609398; gene.
DR neXtProt; NX_Q9Y5K8; -.
DR PharmGKB; PA25157; -.
DR eggNOG; COG1394; -.
DR HOGENOM; HOG000230791; -.
DR HOVERGEN; HBG000483; -.
DR InParanoid; Q9Y5K8; -.
DR KO; K02149; -.
DR OMA; QSKNIMG; -.
DR OrthoDB; EOG7QG46J; -.
DR PhylomeDB; Q9Y5K8; -.
DR BioCyc; MetaCyc:HS02107-MONOMER; -.
DR Reactome; REACT_111102; Signal Transduction.
DR Reactome; REACT_116125; Disease.
DR Reactome; REACT_15518; Transmembrane transport of small molecules.
DR ChiTaRS; ATP6V1D; human.
DR GeneWiki; ATP6V1D; -.
DR GenomeRNAi; 51382; -.
DR NextBio; 54891; -.
DR PRO; PR:Q9Y5K8; -.
DR ArrayExpress; Q9Y5K8; -.
DR Bgee; Q9Y5K8; -.
DR CleanEx; HS_ATP6V1D; -.
DR Genevestigator; Q9Y5K8; -.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR GO; GO:0016471; C:vacuolar proton-transporting V-type ATPase complex; IDA:UniProtKB.
DR GO; GO:0042626; F:ATPase activity, coupled to transmembrane movement of substances; IEA:InterPro.
DR GO; GO:0006879; P:cellular iron ion homeostasis; TAS:Reactome.
DR GO; GO:0042384; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0008286; P:insulin receptor signaling pathway; TAS:Reactome.
DR GO; GO:0051701; P:interaction with host; TAS:Reactome.
DR GO; GO:0090382; P:phagosome maturation; TAS:Reactome.
DR GO; GO:0061512; P:protein localization to cilium; IMP:UniProtKB.
DR GO; GO:0015992; P:proton transport; IEA:UniProtKB-KW.
DR GO; GO:0033572; P:transferrin transport; TAS:Reactome.
DR GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
DR InterPro; IPR002699; V_ATPase_D.
DR PANTHER; PTHR11671; PTHR11671; 1.
DR Pfam; PF01813; ATP-synt_D; 1.
DR TIGRFAMs; TIGR00309; V_ATPase_subD; 1.
PE 1: Evidence at protein level;
KW Cilium biogenesis/degradation; Complete proteome;
KW Hydrogen ion transport; Ion transport; Membrane; Reference proteome;
KW Transport.
FT CHAIN 1 247 V-type proton ATPase subunit D.
FT /FTId=PRO_0000144231.
FT CONFLICT 228 235 EVLEPANL -> RCWSLLIF (in Ref. 2;
FT AAD40384).
SQ SEQUENCE 247 AA; 28263 MW; 4185E5F6A74EFB1C CRC64;
MSGKDRIEIF PSRMAQTIMK ARLKGAQTGR NLLKKKSDAL TLRFRQILKK IIETKMLMGE
VMREAAFSLA EAKFTAGDFS TTVIQNVNKA QVKIRAKKDN VAGVTLPVFE HYHEGTDSYE
LTGLARGGEQ LAKLKRNYAK AVELLVELAS LQTSFVTLDE AIKITNRRVN AIEHVIIPRI
ERTLAYIITE LDEREREEFY RLKKIQEKKK ILKEKSEKDL EQRRAAGEVL EPANLLAEEK
DEDLLFE
//
ID VATD_HUMAN Reviewed; 247 AA.
AC Q9Y5K8; B2RE33; Q9Y688;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-NOV-1999, sequence version 1.
DT 22-JAN-2014, entry version 123.
DE RecName: Full=V-type proton ATPase subunit D;
DE Short=V-ATPase subunit D;
DE AltName: Full=V-ATPase 28 kDa accessory protein;
DE AltName: Full=Vacuolar proton pump subunit D;
GN Name=ATP6V1D; Synonyms=ATP6M, VATD;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Heart;
RA Zhao Y., Cao H.Q., Wei Y.J., Jiang Y.X., Zhao X.W., Liu D.Q.,
RA Meng X.M., Liu Y.Q., Xu Y.Y., Sheng H., Liu S., Qiao M., Hui R.T.,
RA Ding J.F.;
RL Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pituitary;
RX PubMed=10931946; DOI=10.1073/pnas.160270997;
RA Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
RA Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H.,
RA Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J.,
RA Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M.,
RA Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.;
RT "Gene expression profiling in the human hypothalamus-pituitary-adrenal
RT axis and full-length cDNA cloning.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain;
RA Quan L., Hong W., Shizhou A.;
RT "cDNA of human vacuolar H-ATPase subunit D (VATD) interacts with Rb.";
RL Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP FUNCTION IN CILIOGENESIS, INTERACTION WITH SNX10, AND SUBCELLULAR
RP LOCATION.
RX PubMed=21844891; DOI=10.1038/cr.2011.134;
RA Chen Y., Wu B., Xu L., Li H., Xia J., Yin W., Li Z., Shi D., Li S.,
RA Lin S., Shu X., Pei D.;
RT "A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in
RT vivo.";
RL Cell Res. 22:333-345(2012).
CC -!- FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase.
CC Vacuolar ATPase is responsible for acidifying a variety of
CC intracellular compartments in eukaryotic cells, thus providing
CC most of the energy required for transport processes in the
CC vacuolar system (By similarity). May play a role in cilium
CC biogenesis through regulation of the transport and the
CC localization of proteins to the cilium.
CC -!- SUBUNIT: V-ATPase is a heteromultimeric enzyme composed of a
CC peripheral catalytic V1 complex (components A to H) attached to an
CC integral membrane V0 proton pore complex (components: a, c, c',
CC c'' and d). Interacts with SNX10; may play a role in ciliogenesis.
CC -!- SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein;
CC Cytoplasmic side (Probable). Note=Localizes to centrosome and the
CC base of the cilium.
CC -!- SIMILARITY: Belongs to the V-ATPase D subunit family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AF145316; AAD33953.1; -; mRNA.
DR EMBL; AF100741; AAD40384.1; -; mRNA.
DR EMBL; AF104629; AAG30726.1; -; mRNA.
DR EMBL; AK315784; BAG38130.1; -; mRNA.
DR EMBL; CH471061; EAW80931.1; -; Genomic_DNA.
DR EMBL; BC001411; AAH01411.1; -; mRNA.
DR RefSeq; NP_057078.1; NM_015994.3.
DR UniGene; Hs.272630; -.
DR ProteinModelPortal; Q9Y5K8; -.
DR SMR; Q9Y5K8; 8-208.
DR IntAct; Q9Y5K8; 5.
DR STRING; 9606.ENSP00000216442; -.
DR PhosphoSite; Q9Y5K8; -.
DR DMDM; 10720351; -.
DR PaxDb; Q9Y5K8; -.
DR PeptideAtlas; Q9Y5K8; -.
DR PRIDE; Q9Y5K8; -.
DR DNASU; 51382; -.
DR Ensembl; ENST00000216442; ENSP00000216442; ENSG00000100554.
DR Ensembl; ENST00000554087; ENSP00000451167; ENSG00000100554.
DR GeneID; 51382; -.
DR KEGG; hsa:51382; -.
DR UCSC; uc001xjf.3; human.
DR CTD; 51382; -.
DR GeneCards; GC14M067804; -.
DR HGNC; HGNC:13527; ATP6V1D.
DR HPA; HPA031515; -.
DR MIM; 609398; gene.
DR neXtProt; NX_Q9Y5K8; -.
DR PharmGKB; PA25157; -.
DR eggNOG; COG1394; -.
DR HOGENOM; HOG000230791; -.
DR HOVERGEN; HBG000483; -.
DR InParanoid; Q9Y5K8; -.
DR KO; K02149; -.
DR OMA; QSKNIMG; -.
DR OrthoDB; EOG7QG46J; -.
DR PhylomeDB; Q9Y5K8; -.
DR BioCyc; MetaCyc:HS02107-MONOMER; -.
DR Reactome; REACT_111102; Signal Transduction.
DR Reactome; REACT_116125; Disease.
DR Reactome; REACT_15518; Transmembrane transport of small molecules.
DR ChiTaRS; ATP6V1D; human.
DR GeneWiki; ATP6V1D; -.
DR GenomeRNAi; 51382; -.
DR NextBio; 54891; -.
DR PRO; PR:Q9Y5K8; -.
DR ArrayExpress; Q9Y5K8; -.
DR Bgee; Q9Y5K8; -.
DR CleanEx; HS_ATP6V1D; -.
DR Genevestigator; Q9Y5K8; -.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR GO; GO:0016471; C:vacuolar proton-transporting V-type ATPase complex; IDA:UniProtKB.
DR GO; GO:0042626; F:ATPase activity, coupled to transmembrane movement of substances; IEA:InterPro.
DR GO; GO:0006879; P:cellular iron ion homeostasis; TAS:Reactome.
DR GO; GO:0042384; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0008286; P:insulin receptor signaling pathway; TAS:Reactome.
DR GO; GO:0051701; P:interaction with host; TAS:Reactome.
DR GO; GO:0090382; P:phagosome maturation; TAS:Reactome.
DR GO; GO:0061512; P:protein localization to cilium; IMP:UniProtKB.
DR GO; GO:0015992; P:proton transport; IEA:UniProtKB-KW.
DR GO; GO:0033572; P:transferrin transport; TAS:Reactome.
DR GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
DR InterPro; IPR002699; V_ATPase_D.
DR PANTHER; PTHR11671; PTHR11671; 1.
DR Pfam; PF01813; ATP-synt_D; 1.
DR TIGRFAMs; TIGR00309; V_ATPase_subD; 1.
PE 1: Evidence at protein level;
KW Cilium biogenesis/degradation; Complete proteome;
KW Hydrogen ion transport; Ion transport; Membrane; Reference proteome;
KW Transport.
FT CHAIN 1 247 V-type proton ATPase subunit D.
FT /FTId=PRO_0000144231.
FT CONFLICT 228 235 EVLEPANL -> RCWSLLIF (in Ref. 2;
FT AAD40384).
SQ SEQUENCE 247 AA; 28263 MW; 4185E5F6A74EFB1C CRC64;
MSGKDRIEIF PSRMAQTIMK ARLKGAQTGR NLLKKKSDAL TLRFRQILKK IIETKMLMGE
VMREAAFSLA EAKFTAGDFS TTVIQNVNKA QVKIRAKKDN VAGVTLPVFE HYHEGTDSYE
LTGLARGGEQ LAKLKRNYAK AVELLVELAS LQTSFVTLDE AIKITNRRVN AIEHVIIPRI
ERTLAYIITE LDEREREEFY RLKKIQEKKK ILKEKSEKDL EQRRAAGEVL EPANLLAEEK
DEDLLFE
//
MIM
609398
*RECORD*
*FIELD* NO
609398
*FIELD* TI
*609398 ATPase, H+ TRANSPORTING, LYSOSOMAL, 34-KD, V1 SUBUNIT D; ATP6V1D
;;ATP6M
*FIELD* TX
read more
DESCRIPTION
Vacuolar H(+)-ATPases (V-ATPases) acidify endosomes, lysosomes, Golgi,
and secretory vesicles and transport protons across the plasma membrane
into the extracellular space. The structure of the multiprotein V-ATPase
complex comprises a globular head attached to the membrane by a stalk;
subunit D proteins are contained in the stalk. ATP6V1D was originally
named ATP6M but was renamed to conform to the revised nomenclature for
mammalian vacuolar-type proton pump ATPases (Smith et al., 2003).
CLONING
Using RT-PCR, Kennell et al. (2001) cloned murine Atp6v1d from spleen.
Human and mouse ATP6V1D share 98% amino acid identity, with most of the
variation occurring in the C terminus.
GENE FUNCTION
Using phylogenetic and evolutionary analysis, Kennell et al. (2001)
showed that the ATP6V1D gene has been under strong negative selection
during evolution and is highly conserved among mammals, flies, worms,
yeast, plants, and bacteria.
Using a library of endoribonuclease-prepared short interfering RNAs
(esiRNAs), Kittler et al. (2004) identified 37 genes required for cell
division, one of which was ATP6V1D. These 37 genes included several
splicing factors for which knockdown generates mitotic spindle defects.
In addition, a putative nuclear-export terminator was found to speed up
cell proliferation and mitotic progression after knockdown.
GENE STRUCTURE
By sequence alignment, Kennell et al. (2001) showed that the ATP6V1D
gene contains at least 9 exons.
MAPPING
Kennell et al. (2001) mapped the human ATP6V1D gene by BLAST analysis to
chromosome 14q24, in a region that exhibits conserved synteny with mouse
chromosome 12.
*FIELD* RF
1. Kennell, J. A.; Richards, N. W.; Schaner, P. E.; Gumucio, D. L.
: cDNA cloning, chromosomal localization and evolutionary analysis
of mouse vacuolar ATPase subunit D, Atp6m. Cytogenet. Cell Genet. 92:
337-341, 2001.
2. Kittler, R.; Putz, G.; Pelletier, L.; Poser, I.; Heninger, A.-K.;
Drechsel, D.; Fischer, S.; Konstantinova, I.; Habermann, B.; Grabner,
H.; Yaspo, M.-L.; Himmelbauer, H.; Korn, B.; Neugebauer, K.; Pisabarro,
M. T.; Buchholz, F.: An endoribonuclease-prepared siRNA screen in
human cells identifies genes essential for cell division. Nature 432:
1036-1040, 2004.
3. Smith, A. N.; Lovering, R. C.; Futai, M.; Takeda, J.; Brown, D.;
Karet, F. E.: Revised nomenclature for mammalian vacuolar-type H+-ATPase
subunit genes. Molec. Cell 12: 801-803, 2003.
*FIELD* CN
Ada Hamosh - updated: 06/03/2005
*FIELD* CD
Laura L. Baxter: 5/31/2005
*FIELD* ED
alopez: 06/03/2005
alopez: 5/31/2005
*RECORD*
*FIELD* NO
609398
*FIELD* TI
*609398 ATPase, H+ TRANSPORTING, LYSOSOMAL, 34-KD, V1 SUBUNIT D; ATP6V1D
;;ATP6M
*FIELD* TX
read more
DESCRIPTION
Vacuolar H(+)-ATPases (V-ATPases) acidify endosomes, lysosomes, Golgi,
and secretory vesicles and transport protons across the plasma membrane
into the extracellular space. The structure of the multiprotein V-ATPase
complex comprises a globular head attached to the membrane by a stalk;
subunit D proteins are contained in the stalk. ATP6V1D was originally
named ATP6M but was renamed to conform to the revised nomenclature for
mammalian vacuolar-type proton pump ATPases (Smith et al., 2003).
CLONING
Using RT-PCR, Kennell et al. (2001) cloned murine Atp6v1d from spleen.
Human and mouse ATP6V1D share 98% amino acid identity, with most of the
variation occurring in the C terminus.
GENE FUNCTION
Using phylogenetic and evolutionary analysis, Kennell et al. (2001)
showed that the ATP6V1D gene has been under strong negative selection
during evolution and is highly conserved among mammals, flies, worms,
yeast, plants, and bacteria.
Using a library of endoribonuclease-prepared short interfering RNAs
(esiRNAs), Kittler et al. (2004) identified 37 genes required for cell
division, one of which was ATP6V1D. These 37 genes included several
splicing factors for which knockdown generates mitotic spindle defects.
In addition, a putative nuclear-export terminator was found to speed up
cell proliferation and mitotic progression after knockdown.
GENE STRUCTURE
By sequence alignment, Kennell et al. (2001) showed that the ATP6V1D
gene contains at least 9 exons.
MAPPING
Kennell et al. (2001) mapped the human ATP6V1D gene by BLAST analysis to
chromosome 14q24, in a region that exhibits conserved synteny with mouse
chromosome 12.
*FIELD* RF
1. Kennell, J. A.; Richards, N. W.; Schaner, P. E.; Gumucio, D. L.
: cDNA cloning, chromosomal localization and evolutionary analysis
of mouse vacuolar ATPase subunit D, Atp6m. Cytogenet. Cell Genet. 92:
337-341, 2001.
2. Kittler, R.; Putz, G.; Pelletier, L.; Poser, I.; Heninger, A.-K.;
Drechsel, D.; Fischer, S.; Konstantinova, I.; Habermann, B.; Grabner,
H.; Yaspo, M.-L.; Himmelbauer, H.; Korn, B.; Neugebauer, K.; Pisabarro,
M. T.; Buchholz, F.: An endoribonuclease-prepared siRNA screen in
human cells identifies genes essential for cell division. Nature 432:
1036-1040, 2004.
3. Smith, A. N.; Lovering, R. C.; Futai, M.; Takeda, J.; Brown, D.;
Karet, F. E.: Revised nomenclature for mammalian vacuolar-type H+-ATPase
subunit genes. Molec. Cell 12: 801-803, 2003.
*FIELD* CN
Ada Hamosh - updated: 06/03/2005
*FIELD* CD
Laura L. Baxter: 5/31/2005
*FIELD* ED
alopez: 06/03/2005
alopez: 5/31/2005