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Q8N5B7 (CERS5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ceramide synthase 5

Short name=CerS5
EC=2.3.1.24
Alternative name(s):
LAG1 longevity assurance homolog 5
Gene names
Name:CERS5
Synonyms:LASS5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length392 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Dihydroceramide synthase. Catalyzes the acylation of sphingosine to form dihydroceramide, with high selectivity toward palmitoyl-CoA as acyl donor compared to stearoyl-CoA. Inhibited by fumonisin B1 By similarity.

Catalytic activity

Acyl-CoA + sphingosine = CoA + N-acylsphingosine.

Pathway

Lipid metabolism; sphingolipid metabolism.

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.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N5B7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8N5B7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MATAAQGPLSLLWGWLWSERFWLPENVSWADLEGPADGYGYPRGRHILSVFPLAAGIFFVRLLFE → MMKPRPK
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 392392Ceramide synthase 5
PRO_0000185514

Regions

Topological domain1 – 4646Lumenal Potential
Transmembrane47 – 6721Helical; Potential
Topological domain68 – 14780Cytoplasmic Potential
Transmembrane148 – 16821Helical; Potential
Topological domain169 – 18214Lumenal Potential
Transmembrane183 – 20321Helical; Potential
Topological domain204 – 21310Cytoplasmic Potential
Transmembrane214 – 23421Helical; Potential
Topological domain235 – 27137Lumenal Potential
Transmembrane272 – 29221Helical; Potential
Topological domain293 – 31018Cytoplasmic Potential
Transmembrane311 – 33121Helical; Potential
Topological domain332 – 39261Lumenal Potential
Domain139 – 340202TLC
DNA binding75 – 13662Homeobox

Amino acid modifications

Glycosylation261N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 6565MATAA…RLLFE → MMKPRPK in isoform 2.
VSP_054572
Natural variant751C → R.
Corresponds to variant rs7302981 [ dbSNP | Ensembl ].
VAR_019558

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: E95658B20CE114B5

FASTA39245,752
        10         20         30         40         50         60 
MATAAQGPLS LLWGWLWSER FWLPENVSWA DLEGPADGYG YPRGRHILSV FPLAAGIFFV 

        70         80         90        100        110        120 
RLLFERFIAK PCALCIGIED SGPYQAQPNA ILEKVFISIT KYPDKKRLEG LSKQLDWNVR 

       130        140        150        160        170        180 
KIQCWFRHRR NQDKPPTLTK FCESMWRFTF YLCIFCYGIR FLWSSPWFWD IRQCWHNYPF 

       190        200        210        220        230        240 
QPLSSGLYHY YIMELAFYWS LMFSQFTDIK RKDFLIMFVH HLVTIGLISF SYINNMVRVG 

       250        260        270        280        290        300 
TLIMCLHDVS DFLLEAAKLA NYAKYQRLCD TLFVIFSAVF MVTRLGIYPF WILNTTLFES 

       310        320        330        340        350        360 
WEIIGPYASW WLLNGLLLTL QLLHVIWSYL IARIALKALI RGKVSKDDRS DVESSSEEED 

       370        380        390 
VTTCTKSPCD SSSSNGANRV NGHMGGSYWA EE 

« Hide

Isoform 2 [UniParc].

Checksum: 6B5BF2BE15719766
Show »

FASTA33439,259

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] (ISOFORM 2).
Tissue: Small intestine.
[2]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] (ISOFORM 1).
Tissue: Eye.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK300937 mRNA. Translation: BAG62566.1.
AC074032 Genomic DNA. No translation available.
AC139016 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW58133.1.
BC032565 mRNA. Translation: AAH32565.1.
CCDSCCDS8801.1.
RefSeqNP_001268660.1. NM_001281731.1. [Q8N5B7-2]
NP_671723.1. NM_147190.3. [Q8N5B7-1]
UniGeneHs.270525.

3D structure databases

ProteinModelPortalQ8N5B7.
SMRQ8N5B7. Positions 86-135.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124788. 1 interaction.
STRING9606.ENSP00000325485.

PTM databases

PhosphoSiteQ8N5B7.

Polymorphism databases

DMDM51316484.

Proteomic databases

MaxQBQ8N5B7.
PaxDbQ8N5B7.
PRIDEQ8N5B7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000317551; ENSP00000325485; ENSG00000139624.
ENST00000422340; ENSP00000389050; ENSG00000139624.
GeneID91012.
KEGGhsa:91012.
UCSCuc001rwd.4. human. [Q8N5B7-1]

Organism-specific databases

CTD91012.
GeneCardsGC12M050524.
HGNCHGNC:23749. CERS5.
HPAHPA026589.
MIM615335. gene.
neXtProtNX_Q8N5B7.
PharmGKBPA134882694.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5058.
HOVERGENHBG052310.
InParanoidQ8N5B7.
KOK04710.
OMAGGSYWAE.
PhylomeDBQ8N5B7.
TreeFamTF314319.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
UniPathwayUPA00222.

Gene expression databases

ArrayExpressQ8N5B7.
BgeeQ8N5B7.
CleanExHS_LASS5.
GenevestigatorQ8N5B7.

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

ChiTaRSCERS5. human.
GenomeRNAi91012.
NextBio35475360.
PROQ8N5B7.
SOURCESearch...

Entry information

Entry nameCERS5_HUMAN
AccessionPrimary (citable) accession number: Q8N5B7
Secondary accession number(s): B4DV54
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 111 of the entry and version 1 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

PATHWAY comments

Index of metabolic and biosynthesis pathways

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 12

Human chromosome 12: entries, gene names and cross-references to MIM