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Q9BUJ0

- ABHEA_HUMAN

UniProt

Q9BUJ0 - ABHEA_HUMAN

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Protein

Alpha/beta hydrolase domain-containing protein 14A

Gene

ABHD14A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

Possible role in granule neuron development.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei171 – 1711Charge relay systemBy similarity
Active sitei222 – 2221Charge relay systemBy similarity
Active sitei249 – 2491Charge relay systemBy similarity

GO - Molecular functioni

  1. hydrolase activity Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Protein family/group databases

MEROPSiS33.981.

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha/beta hydrolase domain-containing protein 14A (EC:3.-.-.-)
Short name:
Abhydrolase domain-containing protein 14A
Gene namesi
Name:ABHD14A
ORF Names:UNQ1913/PRO4373
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:24538. ABHD14A.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei35 – 5521Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. extracellular vesicular exosome Source: UniProt
  3. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672659.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 271271Alpha/beta hydrolase domain-containing protein 14APRO_0000282285Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi67 – 671N-linked (GlcNAc...)Sequence Analysis
Glycosylationi201 – 2011N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9BUJ0.
PaxDbiQ9BUJ0.
PRIDEiQ9BUJ0.

PTM databases

PhosphoSiteiQ9BUJ0.

Expressioni

Gene expression databases

BgeeiQ9BUJ0.
CleanExiHS_ABHD14A.
ExpressionAtlasiQ9BUJ0. baseline and differential.
GenevestigatoriQ9BUJ0.

Organism-specific databases

HPAiHPA038154.

Interactioni

Protein-protein interaction databases

BioGridi117383. 15 interactions.
IntActiQ9BUJ0. 1 interaction.
MINTiMINT-4721393.

Structurei

3D structure databases

ProteinModelPortaliQ9BUJ0.
SMRiQ9BUJ0. Positions 81-270.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the AB hydrolase superfamily. ABHD14 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0596.
GeneTreeiENSGT00510000046860.
HOGENOMiHOG000028065.
HOVERGENiHBG001936.
InParanoidiQ9BUJ0.
KOiK13706.
OMAiALFGCWF.
PhylomeDBiQ9BUJ0.
TreeFamiTF314465.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR029059. AB_hydrolase_5.
[Graphical view]
PfamiPF12695. Abhydrolase_5. 1 hit.
[Graphical view]
SUPFAMiSSF53474. SSF53474. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9BUJ0-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MVGALCGCWF RLGGARPLIP LGPTVVQTSM SRSQVALLGL SLLLMLLLYV
60 70 80 90 100
GLPGPPEQTS CLWGDPNVTV LAGLTPGNSP IFYREVLPLN QAHRVEVVLL
110 120 130 140 150
HGKAFNSHTW EQLGTLQLLS QRGYRAVALD LPGFGNSAPS KEASTEAGRA
160 170 180 190 200
ALLERALRDL EVQNAVLVSP SLSGHYALPF LMRGHHQLHG FVPIAPTSTQ
210 220 230 240 250
NYTQEQFWAV KTPTLILYGE LDHILARESL RQLRHLPNHS VVKLRNAGHA
260 270
CYLHKPQDFH LVLLAFLDHL P
Length:271
Mass (Da):29,765
Last modified:April 3, 2007 - v2
Checksum:iB9CAF975D3208F10
GO

Sequence cautioni

The sequence AAQ88568.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti159 – 1591D → N in CAB43237. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321R → Q.1 Publication
Corresponds to variant rs17849626 [ dbSNP | Ensembl ].
VAR_031390
Natural varianti61 – 611C → W.
Corresponds to variant rs404527 [ dbSNP | Ensembl ].
VAR_031391

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358201 mRNA. Translation: AAQ88568.1. Different initiation.
AL050015 mRNA. Translation: CAB43237.2.
BC002571 mRNA. Translation: AAH02571.1.
CCDSiCCDS2843.1.
PIRiT08702.
RefSeqiNP_056222.2. NM_015407.4.
UniGeneiHs.534400.

Genome annotation databases

EnsembliENST00000273596; ENSP00000273596; ENSG00000248487.
GeneIDi25864.
KEGGihsa:25864.
UCSCiuc003dco.3. human.

Polymorphism databases

DMDMi143955271.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358201 mRNA. Translation: AAQ88568.1 . Different initiation.
AL050015 mRNA. Translation: CAB43237.2 .
BC002571 mRNA. Translation: AAH02571.1 .
CCDSi CCDS2843.1.
PIRi T08702.
RefSeqi NP_056222.2. NM_015407.4.
UniGenei Hs.534400.

3D structure databases

ProteinModelPortali Q9BUJ0.
SMRi Q9BUJ0. Positions 81-270.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117383. 15 interactions.
IntActi Q9BUJ0. 1 interaction.
MINTi MINT-4721393.

Protein family/group databases

MEROPSi S33.981.

PTM databases

PhosphoSitei Q9BUJ0.

Polymorphism databases

DMDMi 143955271.

Proteomic databases

MaxQBi Q9BUJ0.
PaxDbi Q9BUJ0.
PRIDEi Q9BUJ0.

Protocols and materials databases

DNASUi 25864.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000273596 ; ENSP00000273596 ; ENSG00000248487 .
GeneIDi 25864.
KEGGi hsa:25864.
UCSCi uc003dco.3. human.

Organism-specific databases

CTDi 25864.
GeneCardsi GC03P052005.
HGNCi HGNC:24538. ABHD14A.
HPAi HPA038154.
neXtProti NX_Q9BUJ0.
PharmGKBi PA142672659.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0596.
GeneTreei ENSGT00510000046860.
HOGENOMi HOG000028065.
HOVERGENi HBG001936.
InParanoidi Q9BUJ0.
KOi K13706.
OMAi ALFGCWF.
PhylomeDBi Q9BUJ0.
TreeFami TF314465.

Miscellaneous databases

GenomeRNAii 25864.
NextBioi 47235.
PROi Q9BUJ0.

Gene expression databases

Bgeei Q9BUJ0.
CleanExi HS_ABHD14A.
ExpressionAtlasi Q9BUJ0. baseline and differential.
Genevestigatori Q9BUJ0.

Family and domain databases

Gene3Di 3.40.50.1820. 1 hit.
InterProi IPR029058. AB_hydrolase.
IPR029059. AB_hydrolase_5.
[Graphical view ]
Pfami PF12695. Abhydrolase_5. 1 hit.
[Graphical view ]
SUPFAMi SSF53474. SSF53474. 1 hit.
ProtoNeti Search...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. "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], VARIANT GLN-32.
    Tissue: Lymph.

Entry informationi

Entry nameiABHEA_HUMAN
AccessioniPrimary (citable) accession number: Q9BUJ0
Secondary accession number(s): Q6UXU8, Q9Y3T7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: April 3, 2007
Last modified: October 29, 2014
This is version 91 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

Caution

It is uncertain whether Met-1 or Met-30 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3