ID SCLT1_HUMAN Reviewed; 688 AA. AC Q96NL6; A4QN04; Q0VAH2; Q6P2M4; DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot. DT 13-JUL-2010, sequence version 2. DT 24-JAN-2024, entry version 148. DE RecName: Full=Sodium channel and clathrin linker 1; DE AltName: Full=Sodium channel-associated protein 1; GN Name=SCLT1; Synonyms=SAP1; 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] (ISOFORM 1), AND VARIANT CYS-441. 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 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). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT CYS-441. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4). RC TISSUE=Lung; 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 [5] RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY RP [LARGE SCALE ANALYSIS]. RX PubMed=22814378; DOI=10.1073/pnas.1210303109; RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.; RT "N-terminal acetylome analyses and functional insights of the N-terminal RT acetyltransferase NatB."; RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012). RN [6] RP SUBCELLULAR LOCATION. RX PubMed=23348840; DOI=10.1101/gad.207043.112; RA Tanos B.E., Yang H.J., Soni R., Wang W.J., Macaluso F.P., Asara J.M., RA Tsou M.F.; RT "Centriole distal appendages promote membrane docking, leading to cilia RT initiation."; RL Genes Dev. 27:163-168(2013). CC -!- FUNCTION: Adapter protein that links SCN10A to clathrin. Regulates CC SCN10A channel activity, possibly by promoting channel internalization CC (By similarity). {ECO:0000250}. CC -!- SUBUNIT: Interacts with SCN10A and clathrin. Identified in a complex CC containing SCN10A, clathrin and SCLT1 (By similarity). {ECO:0000250}. CC -!- INTERACTION: CC Q96NL6-3; P42858: HTT; NbExp=3; IntAct=EBI-25961722, EBI-466029; CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing CC center, centrosome, centriole {ECO:0000269|PubMed:23348840}. CC Note=Localizes to the distal appendage region of the centriole, which CC anchors the mother centriole to the plasma membrane. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=4; CC Name=1; CC IsoId=Q96NL6-1; Sequence=Displayed; CC Name=2; CC IsoId=Q96NL6-2; Sequence=VSP_030907; CC Name=3; CC IsoId=Q96NL6-3; Sequence=VSP_030906; CC Name=4; CC IsoId=Q96NL6-4; Sequence=VSP_030904, VSP_030905; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AK055217; BAB70876.1; -; mRNA. DR EMBL; AC093783; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC093826; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471056; EAX05167.1; -; Genomic_DNA. DR EMBL; BC064428; AAH64428.1; -; mRNA. DR EMBL; BC121057; AAI21058.1; -; mRNA. DR EMBL; BC121058; AAI21059.1; -; mRNA. DR EMBL; BC128051; AAI28052.1; -; mRNA. DR CCDS; CCDS3740.1; -. [Q96NL6-1] DR CCDS; CCDS77958.1; -. [Q96NL6-4] DR RefSeq; NP_001287826.1; NM_001300897.1. [Q96NL6-4] DR RefSeq; NP_001287827.1; NM_001300898.1. DR RefSeq; NP_653244.2; NM_144643.3. [Q96NL6-1] DR AlphaFoldDB; Q96NL6; -. DR SMR; Q96NL6; -. DR BioGRID; 126318; 173. DR IntAct; Q96NL6; 165. DR MINT; Q96NL6; -. DR STRING; 9606.ENSP00000281142; -. DR GlyGen; Q96NL6; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; Q96NL6; -. DR PhosphoSitePlus; Q96NL6; -. DR BioMuta; SCLT1; -. DR DMDM; 300669665; -. DR EPD; Q96NL6; -. DR jPOST; Q96NL6; -. DR MassIVE; Q96NL6; -. DR MaxQB; Q96NL6; -. DR PaxDb; 9606-ENSP00000281142; -. DR PeptideAtlas; Q96NL6; -. DR ProteomicsDB; 77532; -. [Q96NL6-1] DR ProteomicsDB; 77533; -. [Q96NL6-2] DR ProteomicsDB; 77534; -. [Q96NL6-3] DR ProteomicsDB; 77535; -. [Q96NL6-4] DR Pumba; Q96NL6; -. DR Antibodypedia; 45370; 189 antibodies from 22 providers. DR DNASU; 132320; -. DR Ensembl; ENST00000281142.10; ENSP00000281142.5; ENSG00000151466.12. [Q96NL6-1] DR Ensembl; ENST00000439369.6; ENSP00000395292.2; ENSG00000151466.12. [Q96NL6-3] DR Ensembl; ENST00000511426.5; ENSP00000420861.1; ENSG00000151466.12. [Q96NL6-4] DR GeneID; 132320; -. DR KEGG; hsa:132320; -. DR MANE-Select; ENST00000281142.10; ENSP00000281142.5; NM_144643.4; NP_653244.2. DR UCSC; uc003igp.3; human. [Q96NL6-1] DR AGR; HGNC:26406; -. DR CTD; 132320; -. DR DisGeNET; 132320; -. DR GeneCards; SCLT1; -. DR HGNC; HGNC:26406; SCLT1. DR HPA; ENSG00000151466; Low tissue specificity. DR MalaCards; SCLT1; -. DR MIM; 611399; gene. DR neXtProt; NX_Q96NL6; -. DR OpenTargets; ENSG00000151466; -. DR Orphanet; 110; Bardet-Biedl syndrome. DR PharmGKB; PA147357369; -. DR VEuPathDB; HostDB:ENSG00000151466; -. DR eggNOG; ENOG502QS6B; Eukaryota. DR GeneTree; ENSGT00730000111168; -. DR HOGENOM; CLU_025503_0_0_1; -. DR InParanoid; Q96NL6; -. DR OMA; ESPAPWI; -. DR OrthoDB; 2951938at2759; -. DR PhylomeDB; Q96NL6; -. DR TreeFam; TF331372; -. DR PathwayCommons; Q96NL6; -. DR Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane. DR SignaLink; Q96NL6; -. DR BioGRID-ORCS; 132320; 12 hits in 1143 CRISPR screens. DR ChiTaRS; SCLT1; human. DR GenomeRNAi; 132320; -. DR Pharos; Q96NL6; Tbio. DR PRO; PR:Q96NL6; -. DR Proteomes; UP000005640; Chromosome 4. DR RNAct; Q96NL6; Protein. DR Bgee; ENSG00000151466; Expressed in buccal mucosa cell and 142 other cell types or tissues. DR ExpressionAtlas; Q96NL6; baseline and differential. DR GO; GO:0005814; C:centriole; IDA:UniProtKB. DR GO; GO:0005813; C:centrosome; IDA:UniProtKB. DR GO; GO:0097539; C:ciliary transition fiber; IDA:MGI. DR GO; GO:0071439; C:clathrin complex; IEA:Ensembl. DR GO; GO:0005829; C:cytosol; TAS:Reactome. DR GO; GO:0030276; F:clathrin binding; IEA:Ensembl. DR GO; GO:0017080; F:sodium channel regulator activity; IEA:Ensembl. DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB. DR GO; GO:0045162; P:clustering of voltage-gated sodium channels; IEA:Ensembl. DR InterPro; IPR038911; SCLT1. DR PANTHER; PTHR35970; SODIUM CHANNEL AND CLATHRIN LINKER 1; 1. DR PANTHER; PTHR35970:SF1; SODIUM CHANNEL AND CLATHRIN LINKER 1; 1. DR Genevisible; Q96NL6; HS. PE 1: Evidence at protein level; KW Acetylation; Alternative splicing; Coiled coil; Cytoplasm; Cytoskeleton; KW Phosphoprotein; Reference proteome. FT INIT_MET 1 FT /note="Removed" FT /evidence="ECO:0007744|PubMed:22814378" FT CHAIN 2..688 FT /note="Sodium channel and clathrin linker 1" FT /id="PRO_0000317127" FT COILED 69..673 FT /evidence="ECO:0000255" FT MOD_RES 2 FT /note="N-acetylalanine" FT /evidence="ECO:0007744|PubMed:22814378" FT MOD_RES 681 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:G5E861" FT VAR_SEQ 79 FT /note="K -> A (in isoform 4)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_030904" FT VAR_SEQ 80..688 FT /note="Missing (in isoform 4)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_030905" FT VAR_SEQ 98..610 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_030906" FT VAR_SEQ 230..610 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_030907" FT VARIANT 441 FT /note="S -> C (in dbSNP:rs10028124)" FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3" FT /id="VAR_038481" SQ SEQUENCE 688 AA; 80910 MW; 9432F258529C47D3 CRC64; MAAEIDFLRE QNRRLNEDFR RYQMESFSKY SSVQKAVCQG EGDDTFENLV FDQSFLAPLV TEYDKHLGEL NGQLKYYQKQ VGEMKLQLEN VIKENERLHS ELKDAVEKKL EAFPLGTEVG TDIYADDETV RNLQEQLQLA NQEKTQAVEL WQTVSQELDR LHKLYQEHMT EAQIHVFESQ KQKDQLFDFQ QLTKQLHVTN ENMEVTNQQF LKTVTEQSVI IEQLRKKLRQ AKLELRVAVA KVEELTNVTE DLQGQMKKKE KDVVSAHGRE EASDRRLQQL QSSIKQLEIR LCVTIQEANQ LRTENTHLEK QTRELQAKCN ELENERYEAI VRARNSMQLL EEANLQKSQA LLEEKQKEED IEKMKETVSR FVQDATIRTK KEVANTKKQC NIQISRLTEE LSALQMECAE KQGQIERVIK EKKAVEEELE KIYREGRGNE SDYRKLEEMH QRFLVSERSK DDLQLRLTRA ENRIKQLETD SSEEISRYQE MIQKLQNVLE SERENCGLVS EQRLKLQQEN KQLRKETESL RKIALEAQKK AKVKISTMEH EFSIKERGFE VQLREMEDSN RNSIVELRHL LATQQKAANR WKEETKKLTE SAEIRINNLK SELSRQKLHT QELLSQLEMA NEKVAENEKL ILEHQEKANR LQRRLSQAEE RAASASQQLS VITVQRRKAA SLMNLENI //