Q9HA82 (CERS4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ceramide synthase 4
Short name=CerS4

Alternative name(s):
LAG1 longevity assurance homolog 4

Gene names

Name:	CERS4
Synonyms:	LASS4

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	394 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing different fatty acid donors (N-linked stearoyl- (C18) or arachidoyl- (C20) ceramides) in a fumonisin B1-independent manner By similarity.
Subcellular location	Nucleus membrane; Multi-pass membrane protein Potential. Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.
Sequence similarities	Contains 1 homeobox DNA-binding domain. Contains 1 TLC (TRAM/LAG1/CLN8) domain.

Ontologies

Keywords
Biological process	Lipid synthesis
Cellular component	Endoplasmic reticulum Membrane Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox Transmembrane Transmembrane helix
Ligand	DNA-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW nuclear membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 394	394	Ceramide synthase 4		PRO_0000185512
Regions
	Transmembrane	32 – 52	21	Helical; Potential
	Transmembrane	140 – 160	21	Helical; Potential
	Transmembrane	179 – 199	21	Helical; Potential
	Transmembrane	209 – 229	21	Helical; Potential
	Transmembrane	260 – 280	21	Helical; Potential
	Transmembrane	304 – 324	21	Helical; Potential
	Domain	131 – 332	202	TLC
	DNA binding	67 – 128	62	Homeobox
Amino acid modifications
	Modified residue	349	1	Phosphoserine By similarity
	Modified residue	350	1	Phosphoserine By similarity
Natural variations
	Natural variant	119	1	R → Q. Corresponds to variant rs17159388 [ dbSNP | Ensembl ].		VAR_034065
	Natural variant	301	1	G → S. Corresponds to variant rs2288413 [ dbSNP | Ensembl ].		VAR_019556
	Natural variant	353	1	A → V. Ref.1 Ref.4 Corresponds to variant rs17160348 [ dbSNP | Ensembl ].		VAR_060263
	Natural variant	366	1	A → T. Ref.3 Corresponds to variant rs36259 [ dbSNP | Ensembl ].		VAR_019557
	Natural variant	379	1	R → Q. Ref.1 Ref.4 Corresponds to variant rs17160349 [ dbSNP | Ensembl ].		VAR_060264

Sequences

	Sequence		Length	Mass (Da)
	Q9HA82 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: DAA12AA386ED2802	FASTA	394	46,399
	10 20 30 40 50 60 MLSSFNEWFW QDRFWLPPNV TWTELEDRDG RVYPHPQDLL AALPLALVLL AMRLAFERFI 70 80 90 100 110 120 GLPLSRWLGV RDQTRRQVKP NATLEKHFLT EGHRPKEPQL SLLAAQCGLT LQQTQRWFRR 130 140 150 160 170 180 RRNQDRPQLT KKFCEASWRF LFYLSSFVGG LSVLYHESWL WAPVMCWDRY PNQTLKPSLY 190 200 210 220 230 240 WWYLLELGFY LSLLIRLPFD VKRKDFKEQV IHHFVAVILM TFSYSANLLR IGSLVLLLHD 250 260 270 280 290 300 SSDYLLEACK MVNYMQYQQV CDALFLIFSF VFFYTRLVLF PTQILYTTYY ESISNRGPFF 310 320 330 340 350 360 GYYFFNGLLM LLQLLHVFWS CLILRMLYSF MKKGQMEKDI RSDVEESDSS EEAAAAQEPL 370 380 390 QLKNGAAGGP RPAPTDGPRS RVAGRLTNRH TTAT

References

[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS VAL-353 AND GLN-379. Tissue: Embryo.
[2]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-366.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS VAL-353 AND GLN-379. Tissue: Lung.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK022151 mRNA. Translation: BAB13972.1. AC022146 Genomic DNA. No translation available. CH471139 Genomic DNA. Translation: EAW68940.1. CH471139 Genomic DNA. Translation: EAW68941.1. CH471139 Genomic DNA. Translation: EAW68942.1. CH471139 Genomic DNA. Translation: EAW68945.1. BC009828 mRNA. Translation: AAH09828.1.
IPI	IPI00002225.
RefSeq	NP_078828.2. NM_024552.2.
UniGene	Hs.515111.
3D structure databases
ProteinModelPortal	Q9HA82.
SMR	Q9HA82. Positions 65-129.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9HA82. 1 interaction.
MINT	MINT-4650665.
STRING	Q9HA82.
PTM databases
PhosphoSite	Q9HA82.
Polymorphism databases
DMDM	296434561.
Proteomic databases
PRIDE	Q9HA82.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000251363; ENSP00000251363; ENSG00000090661.
GeneID	79603.
KEGG	hsa:79603.
UCSC	uc002mjg.1. human.
Organism-specific databases
CTD	79603.
GeneCards	GC19P008276.
HGNC	HGNC:23747. CERS4.
HPA	CAB033734.
neXtProt	NX_Q9HA82.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00550000074401.
HOGENOM	HBG444829.
HOVERGEN	HBG052310.
InParanoid	Q9HA82.
OMA	LYWWYLL.
OrthoDB	EOG4KWJT4.
PhylomeDB	Q9HA82.
Enzyme and pathway databases
Reactome	REACT_22258. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	Q9HA82.
Bgee	Q9HA82.
CleanEx	HS_LASS4.
Genevestigator	Q9HA82.
GermOnline	ENSG00000090661. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR009057. Homeodomain-like. IPR012287. Homeodomain-rel. IPR016439. Longevity_assurance_LAG1_LAC1. IPR006634. TLC-dom. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
KO	K04710.
Pfam	PF00046. Homeobox. 1 hit. PF03798. TRAM_LAG1_CLN8. 1 hit. [Graphical view]
PIRSF	PIRSF005225. LAG1_LAC1. 1 hit.
SMART	SM00389. HOX. 1 hit. SM00724. TLC. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. False negative. PS50071. HOMEOBOX_2. 1 hit. PS50922. TLC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	68638.

Entry information

Entry name

CERS4_HUMAN

Accession

Primary (citable) accession number: Q9HA82
Secondary accession number(s): D6W665

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2004
Last sequence update:	May 18, 2010
Last modified:	January 25, 2012
This is version 90 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.