Full text data of NPEPL1
NPEPL1
(KIAA1974)
[Confidence: low (only semi-automatic identification from reviews)]
Probable aminopeptidase NPEPL1; 3.4.11.- (Aminopeptidase-like 1)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Probable aminopeptidase NPEPL1; 3.4.11.- (Aminopeptidase-like 1)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q8NDH3
ID PEPL1_HUMAN Reviewed; 523 AA.
AC Q8NDH3; A6NGZ0; B4DMW7; B7ZBN0; E9PN47; G5EA34; Q53G37; Q5W083;
read moreAC Q8TF28; Q8WUI2; Q9H1T6; Q9HAI5;
DT 23-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2005, sequence version 3.
DT 22-JAN-2014, entry version 107.
DE RecName: Full=Probable aminopeptidase NPEPL1;
DE EC=3.4.11.-;
DE AltName: Full=Aminopeptidase-like 1;
GN Name=NPEPL1; Synonyms=KIAA1974;
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 [LARGE SCALE MRNA] (ISOFORMS 1; 4 AND 5), AND
RP VARIANT VAL-513.
RC TISSUE=Brain cortex, Embryo, and Heart;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP VAL-513.
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
RA Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
RA Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
RA Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
RA Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
RA Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
RA Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
RA Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
RA Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
RA Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
RA Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
RA Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
RA Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pancreas;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 51-523 (ISOFORM 2), AND
RP TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=11853319; DOI=10.1093/dnares/8.6.319;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXII.
RT The complete sequences of 50 new cDNA clones which code for large
RT proteins.";
RL DNA Res. 8:319-327(2001).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 51-523 (ISOFORM 3), AND
RP VARIANT VAL-513.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- FUNCTION: Probably catalyzes the removal of unsubstituted N-
CC terminal amino acids from various peptides.
CC -!- COFACTOR: Zinc or manganese.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8NDH3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NDH3-2; Sequence=VSP_007253, VSP_007254;
CC Note=No experimental confirmation available. Ref.7 (CAD38816)
CC sequence differs from that shown due to a frameshift in position
CC 335;
CC Name=3;
CC IsoId=Q8NDH3-3; Sequence=VSP_007251, VSP_007252;
CC Note=No experimental confirmation available;
CC Name=4;
CC IsoId=Q8NDH3-4; Sequence=VSP_044526;
CC Note=No experimental confirmation available;
CC Name=5;
CC IsoId=Q8NDH3-5; Sequence=VSP_044527;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC -!- SIMILARITY: Belongs to the peptidase M17 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AK307771; Type=Frameshift; Positions=35;
CC Sequence=BAB13861.1; Type=Frameshift; Positions=71;
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DR EMBL; AK021645; BAB13861.1; ALT_FRAME; mRNA.
DR EMBL; AK297667; BAG60029.1; -; mRNA.
DR EMBL; AK307771; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK223094; BAD96814.1; -; mRNA.
DR EMBL; AL139349; CAX14988.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75479.1; -; Genomic_DNA.
DR EMBL; BC020507; AAH20507.2; -; mRNA.
DR EMBL; AB075854; BAB85560.1; -; mRNA.
DR EMBL; AL833971; CAD38816.2; ALT_FRAME; mRNA.
DR RefSeq; NP_001191801.1; NM_001204872.1.
DR RefSeq; NP_001191802.1; NM_001204873.1.
DR RefSeq; NP_078939.3; NM_024663.3.
DR RefSeq; XP_005260608.1; XM_005260551.1.
DR UniGene; Hs.654868; -.
DR ProteinModelPortal; Q8NDH3; -.
DR SMR; Q8NDH3; 68-496.
DR MEROPS; M17.006; -.
DR PhosphoSite; Q8NDH3; -.
DR DMDM; 68847034; -.
DR PaxDb; Q8NDH3; -.
DR PRIDE; Q8NDH3; -.
DR DNASU; 79716; -.
DR Ensembl; ENST00000356091; ENSP00000348395; ENSG00000215440.
DR Ensembl; ENST00000525817; ENSP00000437112; ENSG00000215440.
DR Ensembl; ENST00000525967; ENSP00000434810; ENSG00000215440.
DR GeneID; 79716; -.
DR KEGG; hsa:79716; -.
DR UCSC; uc010zzs.1; human.
DR CTD; 79716; -.
DR GeneCards; GC20P057267; -.
DR HGNC; HGNC:16244; NPEPL1.
DR HPA; CAB004986; -.
DR HPA; CAB017025; -.
DR HPA; HPA036356; -.
DR neXtProt; NX_Q8NDH3; -.
DR PharmGKB; PA31702; -.
DR eggNOG; COG0260; -.
DR HOVERGEN; HBG053563; -.
DR InParanoid; Q8NDH3; -.
DR KO; K09611; -.
DR OMA; PGVWVHV; -.
DR OrthoDB; EOG7966GR; -.
DR GenomeRNAi; 79716; -.
DR NextBio; 69055; -.
DR PRO; PR:Q8NDH3; -.
DR ArrayExpress; Q8NDH3; -.
DR Bgee; Q8NDH3; -.
DR CleanEx; HS_NPEPL1; -.
DR Genevestigator; Q8NDH3; -.
DR GO; GO:0005737; C:cytoplasm; IEA:InterPro.
DR GO; GO:0004177; F:aminopeptidase activity; IEA:UniProtKB-KW.
DR GO; GO:0030145; F:manganese ion binding; IEA:InterPro.
DR GO; GO:0008235; F:metalloexopeptidase activity; IEA:InterPro.
DR GO; GO:0006508; P:proteolysis; IEA:UniProtKB-KW.
DR InterPro; IPR011356; Leucine_aapep/pepB.
DR InterPro; IPR000819; Peptidase_M17_C.
DR Pfam; PF00883; Peptidase_M17; 1.
DR PRINTS; PR00481; LAMNOPPTDASE.
DR PROSITE; PS00631; CYTOSOL_AP; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Aminopeptidase; Complete proteome; Hydrolase;
KW Manganese; Metal-binding; Polymorphism; Protease; Reference proteome;
KW Zinc.
FT CHAIN 1 523 Probable aminopeptidase NPEPL1.
FT /FTId=PRO_0000165828.
FT ACT_SITE 272 272 Potential.
FT ACT_SITE 346 346 Potential.
FT METAL 260 260 Zinc 2 (By similarity).
FT METAL 265 265 Zinc 1 (By similarity).
FT METAL 265 265 Zinc 2 (By similarity).
FT METAL 283 283 Zinc 2 (By similarity).
FT METAL 342 342 Zinc 1 (By similarity).
FT METAL 344 344 Zinc 1 (By similarity).
FT METAL 344 344 Zinc 2 (By similarity).
FT VAR_SEQ 1 50 MANVGLQFQASAGDSDPQSRPLLLLGQLHHLHRVPWSHVRG
FT KLQPRVTEE -> MELHGGNRGGYQPKALEQSGCW (in
FT isoform 4).
FT /FTId=VSP_044526.
FT VAR_SEQ 1 49 MANVGLQFQASAGDSDPQSRPLLLLGQLHHLHRVPWSHVRG
FT KLQPRVTE -> M (in isoform 5).
FT /FTId=VSP_044527.
FT VAR_SEQ 335 393 TVEINNTDAEGRLVLADGVSYACKDLGADIILDMATLTGAQ
FT GIATGKYHAAVLTNSAEW -> YVWPSHSFLPTVGTRDPSR
FT PAMPAHSRHIGRALSVGVPWAAGSLLPGGLGSFGSRRTSR
FT (in isoform 3).
FT /FTId=VSP_007251.
FT VAR_SEQ 376 412 GIATGKYHAAVLTNSAEWEAACVKAGRKCGDLVHPLV ->
FT VSAPWIHPLAVVPGNPTPLLTSRWGRQRVGAAVRKFS (in
FT isoform 2).
FT /FTId=VSP_007253.
FT VAR_SEQ 394 523 Missing (in isoform 3).
FT /FTId=VSP_007252.
FT VAR_SEQ 413 523 Missing (in isoform 2).
FT /FTId=VSP_007254.
FT VARIANT 303 303 K -> R (in dbSNP:rs8116292).
FT /FTId=VAR_059756.
FT VARIANT 513 513 L -> V (in dbSNP:rs6026468).
FT /FTId=VAR_059757.
FT CONFLICT 87 87 N -> S (in Ref. 2; BAD96814).
FT CONFLICT 151 151 V -> L (in Ref. 1; AK307771).
FT CONFLICT 204 204 V -> A (in Ref. 1; BAB13861).
FT CONFLICT 323 323 R -> G (in Ref. 1; BAB13861).
FT CONFLICT 502 502 L -> P (in Ref. 1; BAG60029).
SQ SEQUENCE 523 AA; 55861 MW; 1B00C3422D169C0C CRC64;
MANVGLQFQA SAGDSDPQSR PLLLLGQLHH LHRVPWSHVR GKLQPRVTEE LWQAALSTLN
PNPTDSCPLY LNYATVAALP CRVSRHNSPS AAHFITRLVR TCLPPGAHRC IVMVCEQPEV
FASACALARA FPLFTHRSGA SRRLEKKTVT VEFFLVGQDN GPVEVSTLQC LANATDGVRL
AARIVDTPCN EMNTDTFLEE INKVGKELGI IPTIIRDEEL KTRGFGGIYG VGKAALHPPA
LAVLSHTPDG ATQTIAWVGK GIVYDTGGLS IKGKTTMPGM KRDCGGAAAV LGAFRAAIKQ
GFKDNLHAVF CLAENSVGPN ATRPDDIHLL YSGKTVEINN TDAEGRLVLA DGVSYACKDL
GADIILDMAT LTGAQGIATG KYHAAVLTNS AEWEAACVKA GRKCGDLVHP LVYCPELHFS
EFTSAVADMK NSVADRDNSP SSCAGLFIAS HIGFDWPGVW VHLDIAAPVH AGERATGFGV
ALLLALFGRA SEDPLLNLVS PLGCEVDVEE GDLGRDSKRR RLV
//
ID PEPL1_HUMAN Reviewed; 523 AA.
AC Q8NDH3; A6NGZ0; B4DMW7; B7ZBN0; E9PN47; G5EA34; Q53G37; Q5W083;
read moreAC Q8TF28; Q8WUI2; Q9H1T6; Q9HAI5;
DT 23-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2005, sequence version 3.
DT 22-JAN-2014, entry version 107.
DE RecName: Full=Probable aminopeptidase NPEPL1;
DE EC=3.4.11.-;
DE AltName: Full=Aminopeptidase-like 1;
GN Name=NPEPL1; Synonyms=KIAA1974;
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 [LARGE SCALE MRNA] (ISOFORMS 1; 4 AND 5), AND
RP VARIANT VAL-513.
RC TISSUE=Brain cortex, Embryo, and Heart;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP VAL-513.
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
RA Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
RA Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
RA Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
RA Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
RA Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
RA Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
RA Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
RA Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
RA Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
RA Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
RA Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
RA Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pancreas;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 51-523 (ISOFORM 2), AND
RP TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=11853319; DOI=10.1093/dnares/8.6.319;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXII.
RT The complete sequences of 50 new cDNA clones which code for large
RT proteins.";
RL DNA Res. 8:319-327(2001).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 51-523 (ISOFORM 3), AND
RP VARIANT VAL-513.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- FUNCTION: Probably catalyzes the removal of unsubstituted N-
CC terminal amino acids from various peptides.
CC -!- COFACTOR: Zinc or manganese.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8NDH3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NDH3-2; Sequence=VSP_007253, VSP_007254;
CC Note=No experimental confirmation available. Ref.7 (CAD38816)
CC sequence differs from that shown due to a frameshift in position
CC 335;
CC Name=3;
CC IsoId=Q8NDH3-3; Sequence=VSP_007251, VSP_007252;
CC Note=No experimental confirmation available;
CC Name=4;
CC IsoId=Q8NDH3-4; Sequence=VSP_044526;
CC Note=No experimental confirmation available;
CC Name=5;
CC IsoId=Q8NDH3-5; Sequence=VSP_044527;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC -!- SIMILARITY: Belongs to the peptidase M17 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AK307771; Type=Frameshift; Positions=35;
CC Sequence=BAB13861.1; Type=Frameshift; Positions=71;
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DR EMBL; AK021645; BAB13861.1; ALT_FRAME; mRNA.
DR EMBL; AK297667; BAG60029.1; -; mRNA.
DR EMBL; AK307771; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK223094; BAD96814.1; -; mRNA.
DR EMBL; AL139349; CAX14988.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75479.1; -; Genomic_DNA.
DR EMBL; BC020507; AAH20507.2; -; mRNA.
DR EMBL; AB075854; BAB85560.1; -; mRNA.
DR EMBL; AL833971; CAD38816.2; ALT_FRAME; mRNA.
DR RefSeq; NP_001191801.1; NM_001204872.1.
DR RefSeq; NP_001191802.1; NM_001204873.1.
DR RefSeq; NP_078939.3; NM_024663.3.
DR RefSeq; XP_005260608.1; XM_005260551.1.
DR UniGene; Hs.654868; -.
DR ProteinModelPortal; Q8NDH3; -.
DR SMR; Q8NDH3; 68-496.
DR MEROPS; M17.006; -.
DR PhosphoSite; Q8NDH3; -.
DR DMDM; 68847034; -.
DR PaxDb; Q8NDH3; -.
DR PRIDE; Q8NDH3; -.
DR DNASU; 79716; -.
DR Ensembl; ENST00000356091; ENSP00000348395; ENSG00000215440.
DR Ensembl; ENST00000525817; ENSP00000437112; ENSG00000215440.
DR Ensembl; ENST00000525967; ENSP00000434810; ENSG00000215440.
DR GeneID; 79716; -.
DR KEGG; hsa:79716; -.
DR UCSC; uc010zzs.1; human.
DR CTD; 79716; -.
DR GeneCards; GC20P057267; -.
DR HGNC; HGNC:16244; NPEPL1.
DR HPA; CAB004986; -.
DR HPA; CAB017025; -.
DR HPA; HPA036356; -.
DR neXtProt; NX_Q8NDH3; -.
DR PharmGKB; PA31702; -.
DR eggNOG; COG0260; -.
DR HOVERGEN; HBG053563; -.
DR InParanoid; Q8NDH3; -.
DR KO; K09611; -.
DR OMA; PGVWVHV; -.
DR OrthoDB; EOG7966GR; -.
DR GenomeRNAi; 79716; -.
DR NextBio; 69055; -.
DR PRO; PR:Q8NDH3; -.
DR ArrayExpress; Q8NDH3; -.
DR Bgee; Q8NDH3; -.
DR CleanEx; HS_NPEPL1; -.
DR Genevestigator; Q8NDH3; -.
DR GO; GO:0005737; C:cytoplasm; IEA:InterPro.
DR GO; GO:0004177; F:aminopeptidase activity; IEA:UniProtKB-KW.
DR GO; GO:0030145; F:manganese ion binding; IEA:InterPro.
DR GO; GO:0008235; F:metalloexopeptidase activity; IEA:InterPro.
DR GO; GO:0006508; P:proteolysis; IEA:UniProtKB-KW.
DR InterPro; IPR011356; Leucine_aapep/pepB.
DR InterPro; IPR000819; Peptidase_M17_C.
DR Pfam; PF00883; Peptidase_M17; 1.
DR PRINTS; PR00481; LAMNOPPTDASE.
DR PROSITE; PS00631; CYTOSOL_AP; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Aminopeptidase; Complete proteome; Hydrolase;
KW Manganese; Metal-binding; Polymorphism; Protease; Reference proteome;
KW Zinc.
FT CHAIN 1 523 Probable aminopeptidase NPEPL1.
FT /FTId=PRO_0000165828.
FT ACT_SITE 272 272 Potential.
FT ACT_SITE 346 346 Potential.
FT METAL 260 260 Zinc 2 (By similarity).
FT METAL 265 265 Zinc 1 (By similarity).
FT METAL 265 265 Zinc 2 (By similarity).
FT METAL 283 283 Zinc 2 (By similarity).
FT METAL 342 342 Zinc 1 (By similarity).
FT METAL 344 344 Zinc 1 (By similarity).
FT METAL 344 344 Zinc 2 (By similarity).
FT VAR_SEQ 1 50 MANVGLQFQASAGDSDPQSRPLLLLGQLHHLHRVPWSHVRG
FT KLQPRVTEE -> MELHGGNRGGYQPKALEQSGCW (in
FT isoform 4).
FT /FTId=VSP_044526.
FT VAR_SEQ 1 49 MANVGLQFQASAGDSDPQSRPLLLLGQLHHLHRVPWSHVRG
FT KLQPRVTE -> M (in isoform 5).
FT /FTId=VSP_044527.
FT VAR_SEQ 335 393 TVEINNTDAEGRLVLADGVSYACKDLGADIILDMATLTGAQ
FT GIATGKYHAAVLTNSAEW -> YVWPSHSFLPTVGTRDPSR
FT PAMPAHSRHIGRALSVGVPWAAGSLLPGGLGSFGSRRTSR
FT (in isoform 3).
FT /FTId=VSP_007251.
FT VAR_SEQ 376 412 GIATGKYHAAVLTNSAEWEAACVKAGRKCGDLVHPLV ->
FT VSAPWIHPLAVVPGNPTPLLTSRWGRQRVGAAVRKFS (in
FT isoform 2).
FT /FTId=VSP_007253.
FT VAR_SEQ 394 523 Missing (in isoform 3).
FT /FTId=VSP_007252.
FT VAR_SEQ 413 523 Missing (in isoform 2).
FT /FTId=VSP_007254.
FT VARIANT 303 303 K -> R (in dbSNP:rs8116292).
FT /FTId=VAR_059756.
FT VARIANT 513 513 L -> V (in dbSNP:rs6026468).
FT /FTId=VAR_059757.
FT CONFLICT 87 87 N -> S (in Ref. 2; BAD96814).
FT CONFLICT 151 151 V -> L (in Ref. 1; AK307771).
FT CONFLICT 204 204 V -> A (in Ref. 1; BAB13861).
FT CONFLICT 323 323 R -> G (in Ref. 1; BAB13861).
FT CONFLICT 502 502 L -> P (in Ref. 1; BAG60029).
SQ SEQUENCE 523 AA; 55861 MW; 1B00C3422D169C0C CRC64;
MANVGLQFQA SAGDSDPQSR PLLLLGQLHH LHRVPWSHVR GKLQPRVTEE LWQAALSTLN
PNPTDSCPLY LNYATVAALP CRVSRHNSPS AAHFITRLVR TCLPPGAHRC IVMVCEQPEV
FASACALARA FPLFTHRSGA SRRLEKKTVT VEFFLVGQDN GPVEVSTLQC LANATDGVRL
AARIVDTPCN EMNTDTFLEE INKVGKELGI IPTIIRDEEL KTRGFGGIYG VGKAALHPPA
LAVLSHTPDG ATQTIAWVGK GIVYDTGGLS IKGKTTMPGM KRDCGGAAAV LGAFRAAIKQ
GFKDNLHAVF CLAENSVGPN ATRPDDIHLL YSGKTVEINN TDAEGRLVLA DGVSYACKDL
GADIILDMAT LTGAQGIATG KYHAAVLTNS AEWEAACVKA GRKCGDLVHP LVYCPELHFS
EFTSAVADMK NSVADRDNSP SSCAGLFIAS HIGFDWPGVW VHLDIAAPVH AGERATGFGV
ALLLALFGRA SEDPLLNLVS PLGCEVDVEE GDLGRDSKRR RLV
//