Q9BUJ0 (ABHEA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Alpha/beta hydrolase domain-containing protein 14A
Short name=Abhydrolase domain-containing protein 14A
EC=3.-.-.-

Gene names

Name:	ABHD14A
ORF Names:	UNQ1913/PRO4373

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	271 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Possible role in granule neuron development By similarity.
Subcellular location	Cytoplasm By similarity. Membrane; Single-pass type II membrane protein Potential.
Sequence similarities	Belongs to the AB hydrolase superfamily. ABHD14 family.
Caution	It is uncertain whether Met-1 or Met-30 is the initiator.
Sequence caution	The sequence AAQ88568.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 271	271	Alpha/beta hydrolase domain-containing protein 14A		PRO_0000282285
Regions
	Transmembrane	35 – 55	21	Helical; Signal-anchor for type II membrane protein; Potential
Sites
	Active site	171	1	Charge relay system By similarity
	Active site	222	1	Charge relay system By similarity
	Active site	249	1	Charge relay system By similarity
Amino acid modifications
	Glycosylation	67	1	N-linked (GlcNAc...) Potential
	Glycosylation	201	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	32	1	R → Q. Ref.3 Corresponds to variant rs17849626 [ dbSNP | Ensembl ].		VAR_031390
	Natural variant	61	1	C → W. Corresponds to variant rs404527 [ dbSNP | Ensembl ].		VAR_031391
Experimental info
	Sequence conflict	159	1	D → N in CAB43237. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q9BUJ0 [UniParc]. Last modified April 3, 2007. Version 2. Checksum: B9CAF975D3208F10	FASTA	271	29,765
	10 20 30 40 50 60 MVGALCGCWF RLGGARPLIP LGPTVVQTSM SRSQVALLGL SLLLMLLLYV GLPGPPEQTS 70 80 90 100 110 120 CLWGDPNVTV LAGLTPGNSP IFYREVLPLN QAHRVEVVLL HGKAFNSHTW EQLGTLQLLS 130 140 150 160 170 180 QRGYRAVALD LPGFGNSAPS KEASTEAGRA ALLERALRDL EVQNAVLVSP SLSGHYALPF 190 200 210 220 230 240 LMRGHHQLHG FVPIAPTSTQ NYTQEQFWAV KTPTLILYGE LDHILARESL RQLRHLPNHS 250 260 270 VVKLRNAGHA CYLHKPQDFH LVLLAFLDHL P

References

[1]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY358201 mRNA. Translation: AAQ88568.1. Different initiation. AL050015 mRNA. Translation: CAB43237.2. BC002571 mRNA. Translation: AAH02571.1.
IPI	IPI00880120.
PIR	T08702.
RefSeq	NP_056222.2. NM_015407.4.
UniGene	Hs.534400.
3D structure databases
ProteinModelPortal	Q9BUJ0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BUJ0. 1 interaction.
MINT	MINT-4721393.
Protein family/group databases
MEROPS	S33.981.
PTM databases
PhosphoSite	Q9BUJ0.
Polymorphism databases
DMDM	143955271.
Proteomic databases
PaxDb	Q9BUJ0.
PRIDE	Q9BUJ0.
Protocols and materials databases
DNASU	25864.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000273596; ENSP00000273596; ENSG00000248487.
GeneID	25864.
KEGG	hsa:25864.
UCSC	uc003dco.3. human.
Organism-specific databases
CTD	25864.
GeneCards	GC03P052005.
HGNC	HGNC:24538. ABHD14A.
HPA	HPA038154.
neXtProt	NX_Q9BUJ0.
PharmGKB	PA142672659.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0596.
HOGENOM	HOG000028065.
HOVERGEN	HBG001936.
KO	K13706.
PhylomeDB	Q9BUJ0.
Gene expression databases
ArrayExpress	Q9BUJ0.
Bgee	Q9BUJ0.
CleanEx	HS_ABHD14A.
Genevestigator	Q9BUJ0.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	25864.
NextBio	47235.

Entry information

Entry name

ABHEA_HUMAN

Accession

Primary (citable) accession number: Q9BUJ0
Secondary accession number(s): Q6UXU8, Q9Y3T7

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 3, 2007
Last sequence update:	April 3, 2007
Last modified:	May 29, 2013
This is version 78 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.