CSTL1_HUMAN
ID CSTL1_HUMAN Reviewed; 145 AA.
AC Q9H114; Q17RA8; Q64FF7;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 27-SEP-2005, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Cystatin-like 1;
DE AltName: Full=RCET11;
DE Flags: Precursor;
GN Name=CSTL1;
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].
RA Xiang Y., Nie D.S., Lu G.X.;
RT "Cloning and characterization of a molecular RCET11 related to cystatins
RT and expressed in human reproductive tract specifically.";
RL Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
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., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., 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., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-88.
RC TISSUE=Testis;
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).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the cystatin family. {ECO:0000305}.
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DR EMBL; AY707749; AAU20813.1; -; mRNA.
DR EMBL; AL096677; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC117396; AAI17397.1; -; mRNA.
DR CCDS; CCDS13153.1; -.
DR RefSeq; NP_612140.1; NM_138283.1.
DR AlphaFoldDB; Q9H114; -.
DR SMR; Q9H114; -.
DR BioGRID; 126157; 117.
DR STRING; 9606.ENSP00000344907; -.
DR GlyGen; Q9H114; 1 site.
DR PhosphoSitePlus; Q9H114; -.
DR BioMuta; CSTL1; -.
DR DMDM; 76803549; -.
DR MassIVE; Q9H114; -.
DR PaxDb; Q9H114; -.
DR PeptideAtlas; Q9H114; -.
DR PRIDE; Q9H114; -.
DR Antibodypedia; 42866; 96 antibodies from 20 providers.
DR DNASU; 128817; -.
DR Ensembl; ENST00000246020.3; ENSP00000246020.2; ENSG00000125823.13.
DR Ensembl; ENST00000347397.5; ENSP00000344907.1; ENSG00000125823.13.
DR GeneID; 128817; -.
DR KEGG; hsa:128817; -.
DR MANE-Select; ENST00000347397.5; ENSP00000344907.1; NM_138283.1; NP_612140.1.
DR UCSC; uc002wte.3; human.
DR CTD; 128817; -.
DR GeneCards; CSTL1; -.
DR HGNC; HGNC:15958; CSTL1.
DR HPA; ENSG00000125823; Tissue enriched (testis).
DR neXtProt; NX_Q9H114; -.
DR OpenTargets; ENSG00000125823; -.
DR PharmGKB; PA26988; -.
DR VEuPathDB; HostDB:ENSG00000125823; -.
DR eggNOG; ENOG502SAEJ; Eukaryota.
DR GeneTree; ENSGT00900000141212; -.
DR HOGENOM; CLU_118168_0_1_1; -.
DR InParanoid; Q9H114; -.
DR OMA; RWGGFQE; -.
DR OrthoDB; 1565344at2759; -.
DR PhylomeDB; Q9H114; -.
DR PathwayCommons; Q9H114; -.
DR BioGRID-ORCS; 128817; 19 hits in 1065 CRISPR screens.
DR ChiTaRS; CSTL1; human.
DR GeneWiki; CSTL1; -.
DR GenomeRNAi; 128817; -.
DR Pharos; Q9H114; Tbio.
DR PRO; PR:Q9H114; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9H114; protein.
DR Bgee; ENSG00000125823; Expressed in right testis and 62 other tissues.
DR ExpressionAtlas; Q9H114; baseline and differential.
DR Genevisible; Q9H114; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0004869; F:cysteine-type endopeptidase inhibitor activity; IEA:UniProtKB-KW.
DR CDD; cd00042; CY; 1.
DR InterPro; IPR042921; CSTL1.
DR InterPro; IPR000010; Cystatin_dom.
DR InterPro; IPR046350; Cystatin_sf.
DR PANTHER; PTHR47887; PTHR47887; 1.
DR Pfam; PF00031; Cystatin; 1.
DR SMART; SM00043; CY; 1.
DR SUPFAM; SSF54403; SSF54403; 1.
PE 2: Evidence at transcript level;
KW Disulfide bond; Glycoprotein; Protease inhibitor; Reference proteome;
KW Secreted; Signal; Thiol protease inhibitor.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..145
FT /note="Cystatin-like 1"
FT /id="PRO_0000006662"
FT DOMAIN 37..115
FT /note="Cystatin"
FT /evidence="ECO:0000255"
FT CARBOHYD 42
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 91..101
FT /evidence="ECO:0000250|UniProtKB:P19313"
FT DISULFID 114..134
FT /evidence="ECO:0000250|UniProtKB:P19313"
FT VARIANT 59
FT /note="T -> A (in dbSNP:rs7361799)"
FT /id="VAR_033841"
FT VARIANT 62
FT /note="Y -> F (in dbSNP:rs16985357)"
FT /id="VAR_033842"
FT VARIANT 66
FT /note="R -> K (in dbSNP:rs17757442)"
FT /id="VAR_033843"
FT VARIANT 88
FT /note="W -> R (in dbSNP:rs3746736)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_024425"
FT VARIANT 96
FT /note="T -> M (in dbSNP:rs3746737)"
FT /id="VAR_024426"
SQ SEQUENCE 145 AA; 16989 MW; 7B247D02C2885464 CRC64;
MGIGCWRNPL LLLIALVLSA KLGHFQRWEG FQQKLMSKKN MNSTLNFFIQ SYNNASNDTY
LYRVQRLIRS QMQLTTGVEY IVTVKIGWTK CKRNDTSNSS CPLQSKKLRK SLICESLIYT
MPWINYFQLW NNSCLEAEHV GRNLR
