Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9HA82 (CERS4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ceramide synthase 4

Short name=CerS4
Alternative name(s):
LAG1 longevity assurance homolog 4
Gene names
Name:CERS4
Synonyms:LASS4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length394 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 394394Ceramide synthase 4
PRO_0000185512

Regions

Transmembrane32 – 5221Helical; Potential
Transmembrane140 – 16021Helical; Potential
Transmembrane179 – 19921Helical; Potential
Transmembrane209 – 22921Helical; Potential
Transmembrane260 – 28021Helical; Potential
Transmembrane304 – 32421Helical; Potential
Domain131 – 332202TLC
DNA binding67 – 12862Homeobox

Natural variations

Natural variant1191R → Q.
Corresponds to variant rs17159388 [ dbSNP | Ensembl ].
VAR_034065
Natural variant3011G → S.
Corresponds to variant rs2288413 [ dbSNP | Ensembl ].
VAR_019556
Natural variant3531A → V. Ref.1 Ref.4
Corresponds to variant rs17160348 [ dbSNP | Ensembl ].
VAR_060263
Natural variant3661A → T. Ref.3
Corresponds to variant rs36259 [ dbSNP | Ensembl ].
VAR_019557
Natural variant3791R → Q. Ref.1 Ref.4
Corresponds to variant rs17160349 [ dbSNP | Ensembl ].
VAR_060264

Sequences

Sequence LengthMass (Da)Tools
Q9HA82 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: DAA12AA386ED2802

FASTA39446,399
        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 

« Hide

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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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.
RefSeqNP_078828.2. NM_024552.2.
UniGeneHs.515111.

3D structure databases

ProteinModelPortalQ9HA82.
SMRQ9HA82. Positions 8-127.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9HA82. 1 interaction.
MINTMINT-4650665.
STRING9606.ENSP00000251363.

PTM databases

PhosphoSiteQ9HA82.

Polymorphism databases

DMDM296434561.

Proteomic databases

PaxDbQ9HA82.
PRIDEQ9HA82.

Protocols and materials databases

DNASU79603.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000251363; ENSP00000251363; ENSG00000090661.
ENST00000559450; ENSP00000453509; ENSG00000090661.
GeneID79603.
KEGGhsa:79603.
UCSCuc002mjg.3. human.

Organism-specific databases

CTD79603.
GeneCardsGC19P008276.
HGNCHGNC:23747. CERS4.
HPACAB033734.
MIM615334. gene.
neXtProtNX_Q9HA82.
PharmGKBPA134915173.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5058.
HOGENOMHOG000231977.
HOVERGENHBG052310.
InParanoidQ9HA82.
KOK04710.
OMALYWWYLL.
PhylomeDBQ9HA82.
TreeFamTF314319.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ9HA82.
BgeeQ9HA82.
CleanExHS_LASS4.
GenevestigatorQ9HA82.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Longevity_assurance_LAG1_LAC1.
IPR006634. TLC-dom.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
PIRSFPIRSF005225. LAG1_LAC1. 1 hit.
SMARTSM00389. HOX. 1 hit.
SM00724. TLC. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi79603.
NextBio68638.
PROQ9HA82.
SOURCESearch...

Entry information

Entry nameCERS4_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 112 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM