SAPL1_HUMAN
ID SAPL1_HUMAN Reviewed; 521 AA.
AC Q6NUJ1; A0A184; Q8N7T4;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Proactivator polypeptide-like 1;
DE Contains:
DE RecName: Full=Saposin A-like;
DE Contains:
DE RecName: Full=Saposin B-Val-like;
DE Contains:
DE RecName: Full=Saposin B-like;
DE Contains:
DE RecName: Full=Saposin C-like;
DE Contains:
DE RecName: Full=Saposin D-like;
DE Flags: Precursor;
GN Name=PSAPL1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Epidermis;
RA Toulza E., Guerrin M.;
RT "Large scale analysis of gene expression in the course of epidermal
RT differentiation.";
RL Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 209-521.
RC TISSUE=Testis;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
CC -!- FUNCTION: May activate the lysosomal degradation of sphingolipids.
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH68579.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC05143.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR EMBL; DQ991252; ABJ55983.1; -; mRNA.
DR EMBL; BC068579; AAH68579.1; ALT_INIT; mRNA.
DR EMBL; AK097698; BAC05143.1; ALT_SEQ; mRNA.
DR CCDS; CCDS47009.1; -.
DR RefSeq; NP_001078851.1; NM_001085382.1.
DR AlphaFoldDB; Q6NUJ1; -.
DR SMR; Q6NUJ1; -.
DR BioGRID; 612854; 13.
DR STRING; 9606.ENSP00000317445; -.
DR GlyGen; Q6NUJ1; 2 sites.
DR iPTMnet; Q6NUJ1; -.
DR PhosphoSitePlus; Q6NUJ1; -.
DR BioMuta; PSAPL1; -.
DR DMDM; 134035030; -.
DR MassIVE; Q6NUJ1; -.
DR MaxQB; Q6NUJ1; -.
DR PaxDb; Q6NUJ1; -.
DR PeptideAtlas; Q6NUJ1; -.
DR PRIDE; Q6NUJ1; -.
DR ProteomicsDB; 66682; -.
DR Antibodypedia; 43373; 94 antibodies from 21 providers.
DR DNASU; 768239; -.
DR Ensembl; ENST00000319098.7; ENSP00000317445.4; ENSG00000178597.7.
DR GeneID; 768239; -.
DR KEGG; hsa:768239; -.
DR MANE-Select; ENST00000319098.7; ENSP00000317445.4; NM_001085382.2; NP_001078851.1.
DR UCSC; uc011bwj.3; human.
DR CTD; 768239; -.
DR DisGeNET; 768239; -.
DR GeneCards; PSAPL1; -.
DR HGNC; HGNC:33131; PSAPL1.
DR HPA; ENSG00000178597; Group enriched (skin, stomach).
DR neXtProt; NX_Q6NUJ1; -.
DR OpenTargets; ENSG00000178597; -.
DR PharmGKB; PA162400215; -.
DR VEuPathDB; HostDB:ENSG00000178597; -.
DR eggNOG; KOG1340; Eukaryota.
DR GeneTree; ENSGT00940000164031; -.
DR HOGENOM; CLU_033757_0_0_1; -.
DR InParanoid; Q6NUJ1; -.
DR OMA; KTCEWLP; -.
DR OrthoDB; 865505at2759; -.
DR PhylomeDB; Q6NUJ1; -.
DR TreeFam; TF316942; -.
DR PathwayCommons; Q6NUJ1; -.
DR BioGRID-ORCS; 768239; 13 hits in 1061 CRISPR screens.
DR GenomeRNAi; 768239; -.
DR Pharos; Q6NUJ1; Tdark.
DR PRO; PR:Q6NUJ1; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q6NUJ1; protein.
DR Bgee; ENSG00000178597; Expressed in upper leg skin and 60 other tissues.
DR Genevisible; Q6NUJ1; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0005764; C:lysosome; IEA:InterPro.
DR GO; GO:0007193; P:adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0060742; P:epithelial cell differentiation involved in prostate gland development; IBA:GO_Central.
DR GO; GO:0060736; P:prostate gland growth; IBA:GO_Central.
DR GO; GO:0019216; P:regulation of lipid metabolic process; IBA:GO_Central.
DR GO; GO:0006665; P:sphingolipid metabolic process; IEA:UniProtKB-KW.
DR InterPro; IPR003119; SAP_A.
DR InterPro; IPR007856; SapB_1.
DR InterPro; IPR008138; SapB_2.
DR InterPro; IPR008373; Saposin.
DR InterPro; IPR011001; Saposin-like.
DR InterPro; IPR021165; Saposin_chordata.
DR InterPro; IPR008139; SaposinB_dom.
DR Pfam; PF02199; SapA; 2.
DR Pfam; PF05184; SapB_1; 1.
DR Pfam; PF03489; SapB_2; 2.
DR PIRSF; PIRSF002431; Saposin; 1.
DR PRINTS; PR01797; SAPOSIN.
DR SMART; SM00162; SAPA; 2.
DR SMART; SM00741; SapB; 4.
DR SUPFAM; SSF47862; SSF47862; 4.
DR PROSITE; PS51110; SAP_A; 2.
DR PROSITE; PS50015; SAP_B; 4.
PE 2: Evidence at transcript level;
KW Disulfide bond; Glycoprotein; Lipid metabolism; Reference proteome; Repeat;
KW Secreted; Signal; Sphingolipid metabolism.
FT SIGNAL 1..17
FT /evidence="ECO:0000255"
FT PROPEP 18..59
FT /evidence="ECO:0000250"
FT /id="PRO_0000280305"
FT CHAIN 61..144
FT /note="Saposin A-like"
FT /evidence="ECO:0000250"
FT /id="PRO_0000280306"
FT PROPEP 146..180
FT /evidence="ECO:0000250"
FT /id="PRO_0000280307"
FT CHAIN 181..257
FT /note="Saposin B-Val-like"
FT /evidence="ECO:0000250"
FT /id="PRO_0000280308"
FT CHAIN 181..256
FT /note="Saposin B-like"
FT /evidence="ECO:0000250"
FT /id="PRO_0000280309"
FT PROPEP 259..288
FT /evidence="ECO:0000250"
FT /id="PRO_0000280310"
FT CHAIN 290..369
FT /note="Saposin C-like"
FT /evidence="ECO:0000250"
FT /id="PRO_0000280311"
FT PROPEP 370..391
FT /evidence="ECO:0000250"
FT /id="PRO_0000280312"
FT CHAIN 392..473
FT /note="Saposin D-like"
FT /evidence="ECO:0000250"
FT /id="PRO_0000280313"
FT PROPEP 474..521
FT /evidence="ECO:0000250"
FT /id="PRO_0000280314"
FT DOMAIN 19..59
FT /note="Saposin A-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00414"
FT DOMAIN 60..144
FT /note="Saposin B-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DOMAIN 180..258
FT /note="Saposin B-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DOMAIN 290..370
FT /note="Saposin B-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DOMAIN 392..473
FT /note="Saposin B-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DOMAIN 475..515
FT /note="Saposin A-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00414"
FT CARBOHYD 201
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT CARBOHYD 311
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 64..140
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 67..134
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 95..107
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 184..254
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 187..248
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 213..224
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 294..366
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 297..360
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 325..336
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 396..469
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 399..463
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT DISULFID 427..438
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00415"
FT VARIANT 41
FT /note="A -> S (in dbSNP:rs11548325)"
FT /id="VAR_061780"
FT VARIANT 44
FT /note="G -> R (in dbSNP:rs58482081)"
FT /id="VAR_061781"
FT VARIANT 59
FT /note="A -> T (in dbSNP:rs56737582)"
FT /id="VAR_061782"
FT VARIANT 268
FT /note="A -> S (in dbSNP:rs3796905)"
FT /id="VAR_051895"
FT VARIANT 296
FT /note="V -> M (in dbSNP:rs6850206)"
FT /id="VAR_051896"
SQ SEQUENCE 521 AA; 56627 MW; 0E1ED7B942D1ECB2 CRC64;
MLCALLLLPS LLGATRASPT SGPQECAKGS TVWCQDLQTA ARCGAVGYCQ GAVWNKPTAK
SLPCDVCQDI AAAAGNGLNP DATESDILAL VMKTCEWLPS QESSAGCKWM VDAHSSAILS
MLRGAPDSAP AQVCTALSLC EPLQRHLATL RPLSKEDTFE AVAPFMANGP LTFHPRQAPE
GALCQDCVRQ VSRLQEAVRS NLTLADLNIQ EQCESLGPGL AVLCKNYLFQ FFVPADQALR
LLPPQELCRK GGFCEELGAP ARLTQVVAMD GVPSLELGLP RKQSEMQMKA GVTCEVCMNV
VQKLDHWLMS NSSELMITHA LERVCSVMPA SITKECIILV DTYSPSLVQL VAKITPEKVC
KFIRLCGNRR RARAVHDAYA IVPSPEWDAE NQGSFCNGCK RLLTVSSHNL ESKSTKRDIL
VAFKGGCSIL PLPYMIQCKH FVTQYEPVLI ESLKDMMDPV AVCKKVGACH GPRTPLLGTD
QCALGPSFWC RSQEAAKLCN AVQHCQKHVW KEMHLHAGEH A
