SCLT1_HUMAN
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 03-AUG-2022, entry version 141.
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;
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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; 172.
DR IntAct; Q96NL6; 164.
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; Q96NL6; -.
DR PeptideAtlas; Q96NL6; -.
DR PRIDE; Q96NL6; -.
DR ProteomicsDB; 77532; -. [Q96NL6-1]
DR ProteomicsDB; 77533; -. [Q96NL6-2]
DR ProteomicsDB; 77534; -. [Q96NL6-3]
DR ProteomicsDB; 77535; -. [Q96NL6-4]
DR Antibodypedia; 45370; 147 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 CTD; 132320; -.
DR DisGeNET; 132320; -.
DR GeneCards; SCLT1; -.
DR HGNC; HGNC:26406; SCLT1.
DR HPA; ENSG00000151466; Low tissue specificity.
DR MIM; 611399; gene.
DR neXtProt; NX_Q96NL6; -.
DR OpenTargets; ENSG00000151466; -.
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; SRSQEMI; -.
DR OrthoDB; 729964at2759; -.
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 1067 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 141 other tissues.
DR ExpressionAtlas; Q96NL6; baseline and differential.
DR Genevisible; Q96NL6; HS.
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:0008022; F:protein C-terminus 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; PTHR35970; 1.
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
