C1C1L_HUMAN
ID C1C1L_HUMAN Reviewed; 315 AA.
AC P0DN25;
DT 14-OCT-2015, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2015, sequence version 1.
DT 03-AUG-2022, entry version 36.
DE RecName: Full=C1GALT1-specific chaperone 1-like protein {ECO:0000312|HGNC:HGNC:51617};
GN Name=C1GALT1C1L {ECO:0000312|HGNC:HGNC:51617};
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II
CC membrane protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase 31 family. Beta3-Gal-T
CC subfamily. {ECO:0000305}.
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DR EMBL; AC011242; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS82442.1; -.
DR RefSeq; NP_001094800.1; NM_001101330.2.
DR AlphaFoldDB; P0DN25; -.
DR SMR; P0DN25; -.
DR GlyGen; P0DN25; 2 sites.
DR iPTMnet; P0DN25; -.
DR PhosphoSitePlus; P0DN25; -.
DR BioMuta; C1GALT1C1L; -.
DR MassIVE; P0DN25; -.
DR PeptideAtlas; P0DN25; -.
DR PRIDE; P0DN25; -.
DR DNASU; 728819; -.
DR Ensembl; ENST00000475092.4; ENSP00000489061.1; ENSG00000223658.8.
DR GeneID; 728819; -.
DR KEGG; hsa:728819; -.
DR MANE-Select; ENST00000475092.4; ENSP00000489061.1; NM_001101330.3; NP_001094800.1.
DR CTD; 728819; -.
DR GeneCards; C1GALT1C1L; -.
DR HGNC; HGNC:51617; C1GALT1C1L.
DR HPA; ENSG00000223658; Low tissue specificity.
DR neXtProt; NX_P0DN25; -.
DR OpenTargets; ENSG00000223658; -.
DR VEuPathDB; HostDB:ENSG00000223658; -.
DR GeneTree; ENSGT00940000155145; -.
DR OMA; KMEVMMY; -.
DR OrthoDB; 75793at2759; -.
DR PathwayCommons; P0DN25; -.
DR SignaLink; P0DN25; -.
DR BioGRID-ORCS; 728819; 9 hits in 170 CRISPR screens.
DR GenomeRNAi; 728819; -.
DR Pharos; P0DN25; Tdark.
DR PRO; PR:P0DN25; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P0DN25; protein.
DR Bgee; ENSG00000223658; Expressed in calcaneal tendon and 110 other tissues.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016263; F:glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity; IBA:GO_Central.
DR GO; GO:0016267; P:O-glycan processing, core 1; IBA:GO_Central.
PE 3: Inferred from homology;
KW Glycoprotein; Membrane; Reference proteome; Signal-anchor; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..315
FT /note="C1GALT1-specific chaperone 1-like protein"
FT /id="PRO_0000433923"
FT TOPO_DOM 1..8
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 9..29
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 30..315
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT CARBOHYD 55
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 301
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
SQ SEQUENCE 315 AA; 36396 MW; D7B6994F02279826 CRC64;
MVSASGTSFF KGMLLGSISW VLITMFGQIH IRHRGQTQDH EHHHLRPPNR NDFLNTSKVI
LLELSKSIRV FCIIFGESED ESYWAVLKET WTKHCDKAEL YDTKNDNLFN IESNDRWVQM
RTAYKYVFEK YGDNYNWFFL ALPTTFAVIE NLKYLLFTRD ASQPFYLGHT VIFGDLEYVT
VEGGIVLSRE LMKRLNRLLD NSETCADQSV IWKLSEDKQL AICLKYAGVH AENAEDYEGR
DVFNTKPIAQ LIEEALSNNP QQVVEGCCSD MAITFNGLTP QKMEVMMYGL YRLRAFGHYF
NDTLVFLPPV GSEND
