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Q9HA82

- CERS4_HUMAN

UniProt

Q9HA82 - CERS4_HUMAN

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Protein
Ceramide synthase 4
Gene
CERS4, LASS4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi67 – 12862Homeobox
Add
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: Ensembl

GO - Biological processi

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

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_115810. Sphingolipid de novo biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Ceramide synthase 4
Short name:
CerS4
Alternative name(s):
LAG1 longevity assurance homolog 4
Gene namesi
Name:CERS4
Synonyms:LASS4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:23747. CERS4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei32 – 5221Helical; Reviewed prediction
Add
BLAST
Transmembranei140 – 16021Helical; Reviewed prediction
Add
BLAST
Transmembranei179 – 19921Helical; Reviewed prediction
Add
BLAST
Transmembranei209 – 22921Helical; Reviewed prediction
Add
BLAST
Transmembranei260 – 28021Helical; Reviewed prediction
Add
BLAST
Transmembranei304 – 32421Helical; Reviewed prediction
Add
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

PharmGKBiPA134915173.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 394394Ceramide synthase 4
PRO_0000185512Add
BLAST

Proteomic databases

MaxQBiQ9HA82.
PaxDbiQ9HA82.
PRIDEiQ9HA82.

PTM databases

PhosphoSiteiQ9HA82.

Expressioni

Gene expression databases

ArrayExpressiQ9HA82.
BgeeiQ9HA82.
CleanExiHS_LASS4.
GenevestigatoriQ9HA82.

Organism-specific databases

HPAiCAB033734.

Interactioni

Protein-protein interaction databases

IntActiQ9HA82. 1 interaction.
MINTiMINT-4650665.
STRINGi9606.ENSP00000251363.

Structurei

3D structure databases

ProteinModelPortaliQ9HA82.
SMRiQ9HA82. Positions 70-127.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini131 – 332202TLC
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Homeobox, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5058.
HOGENOMiHOG000231977.
HOVERGENiHBG052310.
InParanoidiQ9HA82.
KOiK04710.
OMAiLYWWYLL.
PhylomeDBiQ9HA82.
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]

Sequencei

Sequence statusi: Complete.

Q9HA82-1 [UniParc]FASTAAdd to Basket

« Hide

MLSSFNEWFW QDRFWLPPNV TWTELEDRDG RVYPHPQDLL AALPLALVLL    50
AMRLAFERFI GLPLSRWLGV RDQTRRQVKP NATLEKHFLT EGHRPKEPQL 100
SLLAAQCGLT LQQTQRWFRR RRNQDRPQLT KKFCEASWRF LFYLSSFVGG 150
LSVLYHESWL WAPVMCWDRY PNQTLKPSLY WWYLLELGFY LSLLIRLPFD 200
VKRKDFKEQV IHHFVAVILM TFSYSANLLR IGSLVLLLHD SSDYLLEACK 250
MVNYMQYQQV CDALFLIFSF VFFYTRLVLF PTQILYTTYY ESISNRGPFF 300
GYYFFNGLLM LLQLLHVFWS CLILRMLYSF MKKGQMEKDI RSDVEESDSS 350
EEAAAAQEPL QLKNGAAGGP RPAPTDGPRS RVAGRLTNRH TTAT 394
Length:394
Mass (Da):46,399
Last modified:May 18, 2010 - v2
Checksum:iDAA12AA386ED2802
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti119 – 1191R → Q.
Corresponds to variant rs17159388 [ dbSNP | Ensembl ].
VAR_034065
Natural varianti301 – 3011G → S.
Corresponds to variant rs2288413 [ dbSNP | Ensembl ].
VAR_019556
Natural varianti353 – 3531A → V.2 Publications
Corresponds to variant rs17160348 [ dbSNP | Ensembl ].
VAR_060263
Natural varianti366 – 3661A → T.1 Publication
Corresponds to variant rs36259 [ dbSNP | Ensembl ].
VAR_019557
Natural varianti379 – 3791R → Q.2 Publications
Corresponds to variant rs17160349 [ dbSNP | Ensembl ].
VAR_060264

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS12197.1.
RefSeqiNP_078828.2. NM_024552.2.
XP_006722959.1. XM_006722896.1.
UniGeneiHs.515111.

Genome annotation databases

EnsembliENST00000251363; ENSP00000251363; ENSG00000090661.
ENST00000559450; ENSP00000453509; ENSG00000090661.
GeneIDi79603.
KEGGihsa:79603.
UCSCiuc002mjg.3. human.

Polymorphism databases

DMDMi296434561.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS12197.1.
RefSeqi NP_078828.2. NM_024552.2.
XP_006722959.1. XM_006722896.1.
UniGenei Hs.515111.

3D structure databases

ProteinModelPortali Q9HA82.
SMRi Q9HA82. Positions 70-127.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q9HA82. 1 interaction.
MINTi MINT-4650665.
STRINGi 9606.ENSP00000251363.

PTM databases

PhosphoSitei Q9HA82.

Polymorphism databases

DMDMi 296434561.

Proteomic databases

MaxQBi Q9HA82.
PaxDbi Q9HA82.
PRIDEi Q9HA82.

Protocols and materials databases

DNASUi 79603.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000251363 ; ENSP00000251363 ; ENSG00000090661 .
ENST00000559450 ; ENSP00000453509 ; ENSG00000090661 .
GeneIDi 79603.
KEGGi hsa:79603.
UCSCi uc002mjg.3. human.

Organism-specific databases

CTDi 79603.
GeneCardsi GC19P008276.
HGNCi HGNC:23747. CERS4.
HPAi CAB033734.
MIMi 615334. gene.
neXtProti NX_Q9HA82.
PharmGKBi PA134915173.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5058.
HOGENOMi HOG000231977.
HOVERGENi HBG052310.
InParanoidi Q9HA82.
KOi K04710.
OMAi LYWWYLL.
PhylomeDBi Q9HA82.
TreeFami TF314319.

Enzyme and pathway databases

Reactomei REACT_115810. Sphingolipid de novo biosynthesis.

Miscellaneous databases

GenomeRNAii 79603.
NextBioi 68638.
PROi Q9HA82.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9HA82.
Bgeei Q9HA82.
CleanExi HS_LASS4.
Genevestigatori Q9HA82.

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], 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. 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.

Entry informationi

Entry nameiCERS4_HUMAN
AccessioniPrimary (citable) accession number: Q9HA82
Secondary accession number(s): D6W665
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: May 18, 2010
Last modified: September 3, 2014
This is version 116 of the entry and version 2 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 19
    Human chromosome 19: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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