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Protein

Putative inactive neutral ceramidase B

Gene

ASAH2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Putative inactive neutral ceramidase B
Alternative name(s):
ASAH2-like protein
Putative inactive N-acylsphingosine amidohydrolase 2B
Putative inactive non-lysosomal ceramidase B
Gene namesi
Name:ASAH2B
Synonyms:ASAH2L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23456. ASAH2B.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134977109.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 165165Putative inactive neutral ceramidase BPRO_0000343741Add
BLAST

Proteomic databases

PaxDbiP0C7U1.
PRIDEiP0C7U1.

PTM databases

PhosphoSiteiP0C7U1.

Expressioni

Tissue specificityi

Ubiquitous. Expression is reduced with increasing age and in late-onset Alzheimer disease (LOAD) patients. This reduction is even more pronounced in patients with an affected mother.1 Publication

Gene expression databases

BgeeiP0C7U1.
CleanExiHS_ASAH2B.
ExpressionAtlasiP0C7U1. baseline.
GenevestigatoriP0C7U1.

Organism-specific databases

HPAiHPA051862.

Interactioni

Protein-protein interaction databases

BioGridi575684. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliP0C7U1.
SMRiP0C7U1. Positions 30-163.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the neutral ceramidase family.Curated

Phylogenomic databases

eggNOGiNOG316089.
GeneTreeiENSGT00390000015792.
HOGENOMiHOG000034083.
HOVERGENiHBG105868.
InParanoidiP0C7U1.
OMAiNATIEWY.
OrthoDBiEOG7WQ7RQ.
PhylomeDBiP0C7U1.

Family and domain databases

InterProiIPR006823. Ceramidase_alk.
[Graphical view]
PANTHERiPTHR12670. PTHR12670. 1 hit.
PfamiPF04734. Ceramidase_alk. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P0C7U1-1) [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

        10         20         30         40         50
MRQHRQFMDR THYLLTFSSS ETLLRLLLRI VDRAPKGRTF GDVLQPAKPE
60 70 80 90 100
YRVGEVAEVI FVGANPKNSV QNQTHQTFLT VEKYEATSTS WQIVCNDASW
110 120 130 140 150
ETRFYWHKGL LGLSNATVEW HIPDTAQPGI YRIRYFGHNR KQDILKPAVI
160
LSFEGTSPAF EVVTI
Length:165
Mass (Da):19,025
Last modified:July 22, 2008 - v1
Checksum:iAB59B4F728F82D66
GO
Isoform 2 (identifier: P0C7U1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: MRQHRQFMDRTHYLLTFSSSETLLRLLLR → MVANLSRGPEPPFFKQLIVPLIPS

Note: No experimental confirmation available.

Show »
Length:160
Mass (Da):18,026
Checksum:i25CB3AD9FFE817E0
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2929MRQHR…RLLLR → MVANLSRGPEPPFFKQLIVP LIPS in isoform 2. 1 PublicationVSP_056938Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK294369 mRNA. Translation: BAH11747.1.
AL589794 Genomic DNA. No translation available.
CCDSiCCDS31203.1. [P0C7U1-1]
RefSeqiNP_001072984.1. NM_001079516.2. [P0C7U1-1]
XP_005270116.1. XM_005270059.2. [P0C7U1-2]
XP_005270117.1. XM_005270060.1. [P0C7U1-2]
XP_006718015.1. XM_006717952.1. [P0C7U1-1]
UniGeneiHs.710005.

Genome annotation databases

EnsembliENST00000374006; ENSP00000363118; ENSG00000204147. [P0C7U1-1]
ENST00000374007; ENSP00000363119; ENSG00000204147. [P0C7U1-2]
GeneIDi653308.
KEGGihsa:653308.
UCSCiuc001jjg.4. human. [P0C7U1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK294369 mRNA. Translation: BAH11747.1.
AL589794 Genomic DNA. No translation available.
CCDSiCCDS31203.1. [P0C7U1-1]
RefSeqiNP_001072984.1. NM_001079516.2. [P0C7U1-1]
XP_005270116.1. XM_005270059.2. [P0C7U1-2]
XP_005270117.1. XM_005270060.1. [P0C7U1-2]
XP_006718015.1. XM_006717952.1. [P0C7U1-1]
UniGeneiHs.710005.

3D structure databases

ProteinModelPortaliP0C7U1.
SMRiP0C7U1. Positions 30-163.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi575684. 1 interaction.

PTM databases

PhosphoSiteiP0C7U1.

Proteomic databases

PaxDbiP0C7U1.
PRIDEiP0C7U1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374006; ENSP00000363118; ENSG00000204147. [P0C7U1-1]
ENST00000374007; ENSP00000363119; ENSG00000204147. [P0C7U1-2]
GeneIDi653308.
KEGGihsa:653308.
UCSCiuc001jjg.4. human. [P0C7U1-1]

Organism-specific databases

CTDi653308.
GeneCardsiGC10P052499.
HGNCiHGNC:23456. ASAH2B.
HPAiHPA051862.
MIMi610987. gene.
neXtProtiNX_P0C7U1.
PharmGKBiPA134977109.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG316089.
GeneTreeiENSGT00390000015792.
HOGENOMiHOG000034083.
HOVERGENiHBG105868.
InParanoidiP0C7U1.
OMAiNATIEWY.
OrthoDBiEOG7WQ7RQ.
PhylomeDBiP0C7U1.

Miscellaneous databases

GeneWikiiASAH2B.
GenomeRNAii653308.
NextBioi123060.
PROiP0C7U1.
SOURCEiSearch...

Gene expression databases

BgeeiP0C7U1.
CleanExiHS_ASAH2B.
ExpressionAtlasiP0C7U1. baseline.
GenevestigatoriP0C7U1.

Family and domain databases

InterProiIPR006823. Ceramidase_alk.
[Graphical view]
PANTHERiPTHR12670. PTHR12670. 1 hit.
PfamiPF04734. Ceramidase_alk. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Amygdala.
  2. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease."
    Avramopoulos D., Wang R., Valle D., Fallin M.D., Bassett S.S.
    Neurogenetics 8:111-120(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiASA2B_HUMAN
AccessioniPrimary (citable) accession number: P0C7U1
Secondary accession number(s): B7Z261
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: July 22, 2008
Last modified: February 4, 2015
This is version 53 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

Miscellaneous

ASAH2B/ASAH2L is a partial paralog of ASAH2, resulting from a partial duplication of ASAH2 on chromosome 10. It has a polymorphic start codon with a single nucleotide change of the original ASAH2 sequence plus other putative translation start site that might lead to several potential ORFs.

Caution

In contrast to other members of the family, ASAH2B has no predicted transmembrane domain, and lacks the active site, suggesting that it may be catalytically inactive.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.