Reviewed, UniProtKB/Swiss-Prot Q5QJU3 (ACER2_HUMAN)

Names and origin

Protein names

Recommended name:
    Alkaline ceramidase 2
      Short name=Alkaline CDase 2
      Short name=AlkCDase 2
      Short name=haCER2
    EC=3.5.1.23
Alternative name(s):
    N-acylsphingosine amidohydrolase 3-like
    Acylsphingosine deacylase 3-like

Gene names

Name:	ACER2
Synonyms:	ASAH3L
ORF Names:	PP11646

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	275 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Regulates the maturation of integrin beta-1 (ITGB1) by controlling the generation of sphingosine in the Golgi complex. Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate. Ref.1 Ref.5
Catalytic activity	N-acylsphingosine + H2O = a carboxylate + sphingosine.
Subcellular location	Golgi apparatus membrane; Multi-pass membrane protein. Ref.1
Tissue specificity	Highly expressed in placenta. Ref.1
Sequence similarities	Belongs to the alkaline ceramidase family.

Ontologies

Keywords
Biological process	Lipid metabolism
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane
Molecular function	Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	ceramide metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	Golgi membrane Ref.1 Inferred from electronic annotation. Source: InterPro endoplasmic reticulum membrane Inferred from electronic annotation. Source: InterPro integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ceramidase activity Ref.1 Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5QJU3-1)

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: Q5QJU3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: Missing.

Isoform 3 (identifier: Q5QJU3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: Missing.
     169-189: CDNMRVFKLGLFSGLWWTLAL → HERNQRRRHRKGGQQGGGDKV
     190-275: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 275	275	Alkaline ceramidase 2		PRO_0000247748
Regions
	Transmembrane	33 – 53	21	Potential
	Transmembrane	63 – 83	21	Potential
	Transmembrane	87 – 107	21	Potential
	Transmembrane	125 – 142	18	Potential
	Transmembrane	144 – 164	21	Potential
	Transmembrane	174 – 194	21	Potential
	Transmembrane	212 – 232	21	Potential
Amino acid modifications
	Glycosylation	23	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 49	49	Missing in isoform 2 and isoform 3.		VSP_020033
	Alternative sequence	169 – 189	21	CDNMR…WTLAL → HERNQRRRHRKGGQQGGGDK V in isoform 3.		VSP_020034
	Alternative sequence	190 – 275	86	Missing in isoform 3.		VSP_020035
	Natural variant	134	1	A → V: dbSNP rs10964136.		VAR_027150
Experimental info
	Sequence conflict	274	1	I → T in AAQ85132. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 25, 2006. Version 2. Checksum: 56FD619B53C296B1	FASTA	275	31,309
	10 20 30 40 50 60 MGAPHWWDQL QAGSSEVDWC EDNYTIVPAI AEFYNTISNV LFFILPPICM CLFRQYATCF 70 80 90 100 110 120 NSGIYLIWTL LVVVGIGSVY FHATLSFLGQ MLDELAVLWV LMCALAMWFP RRYLPKIFRN 130 140 150 160 170 180 DRGRFKVVVS VLSAVTTCLA FVKPAINNIS LMTLGVPCTA LLIAELKRCD NMRVFKLGLF 190 200 210 220 230 240 SGLWWTLALF CWISDRAFCE LLSSFNFPYL HCMWHILICL AAYLGCVCFA YFDAASEIPE 250 260 270 QGPVIKFWPN EKWAFIGVPY VSLLCANKKS SVKIT
	Isoform 2. Checksum: 49441E790CBAD583	FASTA	226	25,724
	10 20 30 40 50 60 MCLFRQYATC FNSGIYLIWT LLVVVGIGSV YFHATLSFLG QMLDELAVLW VLMCALAMWF 70 80 90 100 110 120 PRRYLPKIFR NDRGRFKVVV SVLSAVTTCL AFVKPAINNI SLMTLGVPCT ALLIAELKRC 130 140 150 160 170 180 DNMRVFKLGL FSGLWWTLAL FCWISDRAFC ELLSSFNFPY LHCMWHILIC LAAYLGCVCF 190 200 210 220 AYFDAASEIP EQGPVIKFWP NEKWAFIGVP YVSLLCANKK SSVKIT
	Isoform 3. Checksum: 7888DB0189A6DF42	FASTA	140	15,864
	10 20 30 40 50 60 MCLFRQYATC FNSGIYLIWT LLVVVGIGSV YFHATLSFLG QMLDELAVLW VLMCALAMWF 70 80 90 100 110 120 PRRYLPKIFR NDRGRFKVVV SVLSAVTTCL AFVKPAINNI SLMTLGVPCT ALLIAELKRH 130 140 ERNQRRRHRK GGQQGGGDKV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Golgi alkaline ceramidase regulates cell proliferation and survival by controlling levels of sphingosine and S1P." Xu R., Jin J., Hu W., Sun W., Bielawski J., Szulc Z., Taha T., Obeid L.M., Mao C. FASEB J. 20:1813-1825(2006) [PubMed: 16940153] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[2]	"Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J. Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed: 15498874] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[3]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Placenta.
[5]	"Alkaline ceramidase 2 regulates beta1 integrin maturation and cell adhesion." Sun W., Hu W., Xu R., Jin J., Szulc Z.M., Zhang G., Galadari S.H., Obeid L.M., Mao C. FASEB J. 23:656-666(2009) [PubMed: 18945876] [Abstract] Cited for: FUNCTION.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY312516 mRNA. Translation: AAQ85132.1. AF370405 mRNA. Translation: AAQ15241.1. AL158206, AL391834 Genomic DNA. Translation: CAH73022.1. AL391834, AL158206 Genomic DNA. Translation: CAM21146.1. BC092487 mRNA. Translation: AAH92487.1.
IPI	IPI00420054. IPI00479560. IPI00783055.
RefSeq	NP_001010887.2.
UniGene	Hs.41379
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q5QJU3.
Proteomic databases
PRIDE	Q5QJU3.
Genome annotation databases
Ensembl	ENST00000340967; ENSP00000342609; ENSG00000177076; Homo sapiens. [Genome view] ENST00000380376; ENSP00000369735; ENSG00000177076; Homo sapiens. [Genome view]
GeneID	340485.
KEGG	hsa:340485.
UCSC	uc003zny.1. human. uc003znz.1. human.
Organism-specific databases
CTD	340485.
GeneCards	GC09P019400.
HGNC	HGNC:23675. ACER2.
HPA	HPA014092.
PharmGKB	PA134968664.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q5QJU3.
HOVERGEN	Q5QJU3.
OMA	CANKKSP.
Enzyme and pathway databases
BRENDA	3.5.1.23. 247.
Reactome	REACT_602. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	Q5QJU3.
Bgee	Q5QJU3.
CleanEx	HS_ACER2.
Genevestigator	Q5QJU3.
Family and domain databases
InterPro	IPR008901. APHC. [Graphical view]
Pfam	PF05875. aPHC. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	97878.

Entry information

Entry name

ACER2_HUMAN

Accession

Primary (citable) accession number: Q5QJU3
Secondary accession number(s): A2A3R8 , Q569G5, Q5VZR7, Q71RD2

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 25, 2006
Last sequence update:	July 25, 2006
Last modified:	November 3, 2009
This is version 36 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.