ID CERS4_HUMAN Reviewed; 394 AA. AC Q9HA82; D6W665; DT 16-AUG-2004, integrated into UniProtKB/Swiss-Prot. DT 18-MAY-2010, sequence version 2. DT 25-JAN-2012, entry version 90. DE RecName: Full=Ceramide synthase 4; DE Short=CerS4; DE AltName: Full=LAG1 longevity assurance homolog 4; GN Name=CERS4; Synonyms=LASS4; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS VAL-353 AND RP GLN-379. RC TISSUE=Embryo; 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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=15057824; DOI=10.1038/nature02399; RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M., RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., RA Rubin E.M., Lucas S.M.; RT "The DNA sequence and biology of human chromosome 19."; RL Nature 428:529-535(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT THR-366. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS VAL-353 AND RP GLN-379. 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- FUNCTION: May be either a bona fide (dihydro)ceramide synthase or CC a modulator of its activity. When overexpressed in cells is CC involved in the production of sphingolipids containing different CC fatty acid donors (N-linked stearoyl- (C18) or arachidoyl- (C20) CC ceramides) in a fumonisin B1-independent manner (By similarity). CC -!- SUBCELLULAR LOCATION: Nucleus membrane; Multi-pass membrane CC protein (Potential). Endoplasmic reticulum membrane; Multi-pass CC membrane protein (By similarity). CC -!- SIMILARITY: Contains 1 homeobox DNA-binding domain. CC -!- SIMILARITY: Contains 1 TLC (TRAM/LAG1/CLN8) domain. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AK022151; BAB13972.1; -; mRNA. DR EMBL; AC022146; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471139; EAW68940.1; -; Genomic_DNA. DR EMBL; CH471139; EAW68941.1; -; Genomic_DNA. DR EMBL; CH471139; EAW68942.1; -; Genomic_DNA. DR EMBL; CH471139; EAW68945.1; -; Genomic_DNA. DR EMBL; BC009828; AAH09828.1; -; mRNA. DR IPI; IPI00002225; -. DR RefSeq; NP_078828.2; NM_024552.2. DR UniGene; Hs.515111; -. DR ProteinModelPortal; Q9HA82; -. DR SMR; Q9HA82; 65-129. DR IntAct; Q9HA82; 1. DR MINT; MINT-4650665; -. DR STRING; Q9HA82; -. DR PhosphoSite; Q9HA82; -. DR DMDM; 296434561; -. DR PRIDE; Q9HA82; -. DR Ensembl; ENST00000251363; ENSP00000251363; ENSG00000090661. DR GeneID; 79603; -. DR KEGG; hsa:79603; -. DR UCSC; uc002mjg.1; human. DR CTD; 79603; -. DR GeneCards; GC19P008276; -. DR HGNC; HGNC:23747; CERS4. DR HPA; CAB033734; -. DR neXtProt; NX_Q9HA82; -. DR GeneTree; ENSGT00550000074401; -. DR HOGENOM; HBG444829; -. DR HOVERGEN; HBG052310; -. DR InParanoid; Q9HA82; -. DR OMA; LYWWYLL; -. DR OrthoDB; EOG4KWJT4; -. DR PhylomeDB; Q9HA82; -. DR Reactome; REACT_22258; Metabolism of lipids and lipoproteins. DR NextBio; 68638; -. DR ArrayExpress; Q9HA82; -. DR Bgee; Q9HA82; -. DR CleanEx; HS_LASS4; -. DR Genevestigator; Q9HA82; -. DR GermOnline; ENSG00000090661; Homo sapiens. DR GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome. DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW. DR GO; GO:0031965; C:nuclear membrane; IEA:UniProtKB-SubCell. DR GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro. DR GO; GO:0003700; F:sequence-specific DNA binding transcription factor activity; IEA:InterPro. DR InterPro; IPR001356; Homeobox. DR InterPro; IPR009057; Homeodomain-like. DR InterPro; IPR012287; Homeodomain-rel. DR InterPro; IPR016439; Longevity_assurance_LAG1_LAC1. DR InterPro; IPR006634; TLC-dom. DR Gene3D; G3DSA:1.10.10.60; Homeodomain-rel; 1. DR KO; K04710; -. DR Pfam; PF00046; Homeobox; 1. DR Pfam; PF03798; TRAM_LAG1_CLN8; 1. DR PIRSF; PIRSF005225; LAG1_LAC1; 1. DR SMART; SM00389; HOX; 1. DR SMART; SM00724; TLC; 1. DR SUPFAM; SSF46689; Homeodomain_like; 1. DR PROSITE; PS00027; HOMEOBOX_1; FALSE_NEG. DR PROSITE; PS50071; HOMEOBOX_2; 1. DR PROSITE; PS50922; TLC; 1. PE 1: Evidence at protein level; KW Complete proteome; DNA-binding; Endoplasmic reticulum; Homeobox; KW Lipid synthesis; Membrane; Nucleus; Phosphoprotein; Polymorphism; KW Reference proteome; Transmembrane; Transmembrane helix. FT CHAIN 1 394 Ceramide synthase 4. FT /FTId=PRO_0000185512. FT TRANSMEM 32 52 Helical; (Potential). FT TRANSMEM 140 160 Helical; (Potential). FT TRANSMEM 179 199 Helical; (Potential). FT TRANSMEM 209 229 Helical; (Potential). FT TRANSMEM 260 280 Helical; (Potential). FT TRANSMEM 304 324 Helical; (Potential). FT DOMAIN 131 332 TLC. FT DNA_BIND 67 128 Homeobox. FT MOD_RES 349 349 Phosphoserine (By similarity). FT MOD_RES 350 350 Phosphoserine (By similarity). FT VARIANT 119 119 R -> Q (in dbSNP:rs17159388). FT /FTId=VAR_034065. FT VARIANT 301 301 G -> S (in dbSNP:rs2288413). FT /FTId=VAR_019556. FT VARIANT 353 353 A -> V (in dbSNP:rs17160348). FT /FTId=VAR_060263. FT VARIANT 366 366 A -> T (in dbSNP:rs36259). FT /FTId=VAR_019557. FT VARIANT 379 379 R -> Q (in dbSNP:rs17160349). FT /FTId=VAR_060264. SQ SEQUENCE 394 AA; 46399 MW; DAA12AA386ED2802 CRC64; MLSSFNEWFW QDRFWLPPNV TWTELEDRDG RVYPHPQDLL AALPLALVLL AMRLAFERFI GLPLSRWLGV RDQTRRQVKP NATLEKHFLT EGHRPKEPQL SLLAAQCGLT LQQTQRWFRR RRNQDRPQLT KKFCEASWRF LFYLSSFVGG LSVLYHESWL WAPVMCWDRY PNQTLKPSLY WWYLLELGFY LSLLIRLPFD VKRKDFKEQV IHHFVAVILM TFSYSANLLR IGSLVLLLHD SSDYLLEACK MVNYMQYQQV CDALFLIFSF VFFYTRLVLF PTQILYTTYY ESISNRGPFF GYYFFNGLLM LLQLLHVFWS CLILRMLYSF MKKGQMEKDI RSDVEESDSS EEAAAAQEPL QLKNGAAGGP RPAPTDGPRS RVAGRLTNRH TTAT //