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Q8N5B7

- CERS5_HUMAN

UniProt

Q8N5B7 - CERS5_HUMAN

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Protein

Ceramide synthase 5

Gene
CERS5, LASS5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

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 activityi

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

Pathwayi

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi75 – 13662HomeoboxAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. sequence-specific DNA binding transcription factor activity Source: InterPro
  3. sphingosine N-acyltransferase activity Source: HGNC

GO - Biological processi

  1. ceramide biosynthetic process Source: HGNC
  2. small molecule metabolic process Source: Reactome
  3. sphingolipid biosynthetic process Source: Reactome
  4. sphingolipid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism, Sphingolipid metabolism

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.
UniPathwayiUPA00222.

Names & Taxonomyi

Protein namesi
Recommended name:
Ceramide synthase 5 (EC:2.3.1.24)
Short name:
CerS5
Alternative name(s):
LAG1 longevity assurance homolog 5
Gene namesi
Name:CERS5
Synonyms:LASS5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:23749. CERS5.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4646Lumenal Reviewed predictionAdd
BLAST
Transmembranei47 – 6721Helical; Reviewed predictionAdd
BLAST
Topological domaini68 – 14780Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei148 – 16821Helical; Reviewed predictionAdd
BLAST
Topological domaini169 – 18214Lumenal Reviewed predictionAdd
BLAST
Transmembranei183 – 20321Helical; Reviewed predictionAdd
BLAST
Topological domaini204 – 21310Cytoplasmic Reviewed prediction
Transmembranei214 – 23421Helical; Reviewed predictionAdd
BLAST
Topological domaini235 – 27137Lumenal Reviewed predictionAdd
BLAST
Transmembranei272 – 29221Helical; Reviewed predictionAdd
BLAST
Topological domaini293 – 31018Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei311 – 33121Helical; Reviewed predictionAdd
BLAST
Topological domaini332 – 39261Lumenal Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
  3. nuclear membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134882694.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 392392Ceramide synthase 5PRO_0000185514Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi26 – 261N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8N5B7.
PaxDbiQ8N5B7.
PRIDEiQ8N5B7.

PTM databases

PhosphoSiteiQ8N5B7.

Expressioni

Gene expression databases

ArrayExpressiQ8N5B7.
BgeeiQ8N5B7.
CleanExiHS_LASS5.
GenevestigatoriQ8N5B7.

Organism-specific databases

HPAiHPA026589.

Interactioni

Protein-protein interaction databases

BioGridi124788. 1 interaction.
STRINGi9606.ENSP00000325485.

Structurei

3D structure databases

ProteinModelPortaliQ8N5B7.
SMRiQ8N5B7. Positions 86-135.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini139 – 340202TLCAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Homeobox, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5058.
HOVERGENiHBG052310.
InParanoidiQ8N5B7.
KOiK04710.
OMAiGGSYWAE.
PhylomeDBiQ8N5B7.
TreeFamiTF314319.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Longevity_assurance_LAG1_LAC1.
IPR006634. TLC-dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
PIRSFiPIRSF005225. LAG1_LAC1. 1 hit.
SMARTiSM00389. HOX. 1 hit.
SM00724. TLC. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N5B7-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MATAAQGPLS LLWGWLWSER FWLPENVSWA DLEGPADGYG YPRGRHILSV    50
FPLAAGIFFV RLLFERFIAK PCALCIGIED SGPYQAQPNA ILEKVFISIT 100
KYPDKKRLEG LSKQLDWNVR KIQCWFRHRR NQDKPPTLTK FCESMWRFTF 150
YLCIFCYGIR FLWSSPWFWD IRQCWHNYPF QPLSSGLYHY YIMELAFYWS 200
LMFSQFTDIK RKDFLIMFVH HLVTIGLISF SYINNMVRVG TLIMCLHDVS 250
DFLLEAAKLA NYAKYQRLCD TLFVIFSAVF MVTRLGIYPF WILNTTLFES 300
WEIIGPYASW WLLNGLLLTL QLLHVIWSYL IARIALKALI RGKVSKDDRS 350
DVESSSEEED VTTCTKSPCD SSSSNGANRV NGHMGGSYWA EE 392
Length:392
Mass (Da):45,752
Last modified:October 1, 2002 - v1
Checksum:iE95658B20CE114B5
GO
Isoform 2 (identifier: Q8N5B7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MATAAQGPLSLLWGWLWSERFWLPENVSWADLEGPADGYGYPRGRHILSVFPLAAGIFFVRLLFE → MMKPRPK

Note: No experimental confirmation available.

Show »
Length:334
Mass (Da):39,259
Checksum:i6B5BF2BE15719766
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti75 – 751C → R.
Corresponds to variant rs7302981 [ dbSNP | Ensembl ].
VAR_019558

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6565MATAA…RLLFE → MMKPRPK in isoform 2. VSP_054572Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS61120.1. [Q8N5B7-2]
CCDS8801.1. [Q8N5B7-1]
RefSeqiNP_001268660.1. NM_001281731.1. [Q8N5B7-2]
NP_671723.1. NM_147190.3. [Q8N5B7-1]
UniGeneiHs.270525.

Genome annotation databases

EnsembliENST00000317551; ENSP00000325485; ENSG00000139624.
ENST00000422340; ENSP00000389050; ENSG00000139624.
GeneIDi91012.
KEGGihsa:91012.
UCSCiuc001rwd.4. human. [Q8N5B7-1]
uc001rwe.4. human.

Polymorphism databases

DMDMi51316484.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS61120.1. [Q8N5B7-2 ]
CCDS8801.1. [Q8N5B7-1 ]
RefSeqi NP_001268660.1. NM_001281731.1. [Q8N5B7-2 ]
NP_671723.1. NM_147190.3. [Q8N5B7-1 ]
UniGenei Hs.270525.

3D structure databases

ProteinModelPortali Q8N5B7.
SMRi Q8N5B7. Positions 86-135.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124788. 1 interaction.
STRINGi 9606.ENSP00000325485.

PTM databases

PhosphoSitei Q8N5B7.

Polymorphism databases

DMDMi 51316484.

Proteomic databases

MaxQBi Q8N5B7.
PaxDbi Q8N5B7.
PRIDEi Q8N5B7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000317551 ; ENSP00000325485 ; ENSG00000139624 .
ENST00000422340 ; ENSP00000389050 ; ENSG00000139624 .
GeneIDi 91012.
KEGGi hsa:91012.
UCSCi uc001rwd.4. human. [Q8N5B7-1 ]
uc001rwe.4. human.

Organism-specific databases

CTDi 91012.
GeneCardsi GC12M050524.
HGNCi HGNC:23749. CERS5.
HPAi HPA026589.
MIMi 615335. gene.
neXtProti NX_Q8N5B7.
PharmGKBi PA134882694.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5058.
HOVERGENi HBG052310.
InParanoidi Q8N5B7.
KOi K04710.
OMAi GGSYWAE.
PhylomeDBi Q8N5B7.
TreeFami TF314319.

Enzyme and pathway databases

UniPathwayi UPA00222 .
Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

Miscellaneous databases

ChiTaRSi CERS5. human.
GenomeRNAii 91012.
NextBioi 35475360.
PROi Q8N5B7.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8N5B7.
Bgeei Q8N5B7.
CleanExi HS_LASS5.
Genevestigatori Q8N5B7.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR016439. Longevity_assurance_LAG1_LAC1.
IPR006634. TLC-dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view ]
PIRSFi PIRSF005225. LAG1_LAC1. 1 hit.
SMARTi SM00389. HOX. 1 hit.
SM00724. TLC. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS50071. HOMEOBOX_2. 1 hit.
PS50922. TLC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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] [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.
    , 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. 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.

Entry informationi

Entry nameiCERS5_HUMAN
AccessioniPrimary (citable) accession number: Q8N5B7
Secondary accession number(s): B4DV54
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2002
Last modified: September 3, 2014
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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