SPRNG_HUMAN
ID SPRNG_HUMAN Reviewed; 205 AA.
AC Q9H741; Q53GE8;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=SREBP regulating gene protein {ECO:0000303|PubMed:32111832};
DE AltName: Full=SREBF pathway regulator in Golgi 1 {ECO:0000312|HGNC:HGNC:26128};
GN Name=SPRING1 {ECO:0000312|HGNC:HGNC:26128};
GN Synonyms=C12orf49 {ECO:0000312|HGNC:HGNC:26128},
GN SPRING {ECO:0000303|PubMed:32111832};
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 MRNA].
RC TISSUE=Colon;
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Small intestine;
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 MRNA].
RC TISSUE=Cervix;
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 [4]
RP FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY, GLYCOSYLATION AT ASN-67,
RP MUTAGENESIS OF ASN-67, AND INTERACTION WITH SCAP.
RX PubMed=32111832; DOI=10.1038/s41467-020-14811-1;
RA Loregger A., Raaben M., Nieuwenhuis J., Tan J.M.E., Jae L.T.,
RA van den Hengel L.G., Hendrix S., van den Berg M., Scheij S., Song J.Y.,
RA Huijbers I.J., Kroese L.J., Ottenhoff R., van Weeghel M., van de Sluis B.,
RA Brummelkamp T., Zelcer N.;
RT "Haploid genetic screens identify SPRING/C12ORF49 as a determinant of SREBP
RT signaling and cholesterol metabolism.";
RL Nat. Commun. 11:1128-1128(2020).
CC -!- FUNCTION: Positively regulates hepatic SREBP signaling pathway by
CC modulating the proper localization of SCAP (SREBP cleavage-activating
CC protein) to the endoplasmic reticulum, thereby controlling the level of
CC functional SCAP. {ECO:0000269|PubMed:32111832}.
CC -!- SUBUNIT: Interacts with SCAP. {ECO:0000269|PubMed:32111832}.
CC -!- INTERACTION:
CC Q9H741; Q15323: KRT31; NbExp=3; IntAct=EBI-2836158, EBI-948001;
CC Q9H741; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-2836158, EBI-2130429;
CC Q9H741; Q5BVD1: TTMP; NbExp=3; IntAct=EBI-2836158, EBI-10243654;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane
CC {ECO:0000269|PubMed:32111832}; Single-pass membrane protein
CC {ECO:0000255}.
CC -!- SIMILARITY: Belongs to the SPRING family. {ECO:0000305}.
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DR EMBL; AK025068; BAB15058.1; -; mRNA.
DR EMBL; AK222983; BAD96703.1; -; mRNA.
DR EMBL; BC019843; AAH19843.1; -; mRNA.
DR CCDS; CCDS9179.1; -.
DR RefSeq; NP_079014.1; NM_024738.2.
DR AlphaFoldDB; Q9H741; -.
DR BioGRID; 122892; 259.
DR IntAct; Q9H741; 18.
DR STRING; 9606.ENSP00000261318; -.
DR GlyGen; Q9H741; 6 sites.
DR iPTMnet; Q9H741; -.
DR PhosphoSitePlus; Q9H741; -.
DR BioMuta; C12orf49; -.
DR DMDM; 74733622; -.
DR EPD; Q9H741; -.
DR jPOST; Q9H741; -.
DR MassIVE; Q9H741; -.
DR MaxQB; Q9H741; -.
DR PaxDb; Q9H741; -.
DR PeptideAtlas; Q9H741; -.
DR PRIDE; Q9H741; -.
DR ProteomicsDB; 81078; -.
DR Antibodypedia; 31314; 103 antibodies from 18 providers.
DR DNASU; 79794; -.
DR Ensembl; ENST00000261318.5; ENSP00000261318.3; ENSG00000111412.6.
DR GeneID; 79794; -.
DR KEGG; hsa:79794; -.
DR MANE-Select; ENST00000261318.5; ENSP00000261318.3; NM_024738.4; NP_079014.1.
DR UCSC; uc001tvz.2; human.
DR CTD; 79794; -.
DR DisGeNET; 79794; -.
DR GeneCards; SPRING1; -.
DR HGNC; HGNC:26128; SPRING1.
DR HPA; ENSG00000111412; Tissue enhanced (thyroid).
DR neXtProt; NX_Q9H741; -.
DR OpenTargets; ENSG00000111412; -.
DR PharmGKB; PA128394721; -.
DR VEuPathDB; HostDB:ENSG00000111412; -.
DR eggNOG; KOG3136; Eukaryota.
DR GeneTree; ENSGT00390000008031; -.
DR HOGENOM; CLU_079455_0_0_1; -.
DR InParanoid; Q9H741; -.
DR OMA; PEARCRN; -.
DR OrthoDB; 1602813at2759; -.
DR PhylomeDB; Q9H741; -.
DR TreeFam; TF323884; -.
DR PathwayCommons; Q9H741; -.
DR SignaLink; Q9H741; -.
DR BioGRID-ORCS; 79794; 67 hits in 1072 CRISPR screens.
DR ChiTaRS; C12orf49; human.
DR GenomeRNAi; 79794; -.
DR Pharos; Q9H741; Tdark.
DR PRO; PR:Q9H741; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q9H741; protein.
DR Bgee; ENSG00000111412; Expressed in endothelial cell and 181 other tissues.
DR ExpressionAtlas; Q9H741; baseline and differential.
DR Genevisible; Q9H741; HS.
DR GO; GO:0000139; C:Golgi membrane; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:2000640; P:positive regulation of SREBP signaling pathway; IMP:UniProtKB.
DR InterPro; IPR019352; SPRING1.
DR PANTHER; PTHR13481; PTHR13481; 1.
DR Pfam; PF10218; SPRING1; 1.
PE 1: Evidence at protein level;
KW Glycoprotein; Golgi apparatus; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..205
FT /note="SREBP regulating gene protein"
FT /id="PRO_0000294329"
FT TOPO_DOM 1..16
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305|PubMed:32111832"
FT TRANSMEM 17..35
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 36..205
FT /note="Lumenal"
FT /evidence="ECO:0000305|PubMed:32111832"
FT CARBOHYD 67
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:32111832"
FT VARIANT 55
FT /note="Q -> R (in dbSNP:rs10507274)"
FT /id="VAR_033154"
FT MUTAGEN 67
FT /note="N->Q: Loss of glycosylation."
FT /evidence="ECO:0000269|PubMed:32111832"
FT CONFLICT 143
FT /note="L -> P (in Ref. 2; BAD96703)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 205 AA; 23594 MW; FA477B84FC8AD499 CRC64;
MVNLAAMVWR RLLRKRWVLA LVFGLSLVYF LSSTFKQEER AVRDRNLLQV HDHNQPIPWK
VQFNLGNSSR PSNQCRNSIQ GKHLITDELG YVCERKDLLV NGCCNVNVPS TKQYCCDGCW
PNGCCSAYEY CVSCCLQPNK QLLLERFLNR AAVAFQNLFM AVEDHFELCL AKCRTSSQSV
QHENTYRDPI AKYCYGESPP ELFPA
