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Protein

Protein ABHD12B

Gene

ABHD12B

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

Functioni

GO - Molecular functioni

Keywordsi

Molecular functionHydrolase

Protein family/group databases

ESTHERihuman-ABHD12B ABHD12-PHARC
MEROPSiS09.061

Names & Taxonomyi

Protein namesi
Recommended name:
Protein ABHD12BCurated (EC:3.-.-.-)
Alternative name(s):
Abhydrolase domain-containing protein 12BImported
Alpha/beta hydrolase domain-containing protein 12BCurated
Gene namesi
Name:ABHD12BImported
Synonyms:C14orf29
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000131969.14
HGNCiHGNC:19837 ABHD12B
neXtProtiNX_Q7Z5M8

Pathology & Biotechi

Organism-specific databases

DisGeNETi145447
OpenTargetsiENSG00000131969
PharmGKBiPA162375213

Polymorphism and mutation databases

BioMutaiABHD12B
DMDMi50401854

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000898871 – 362Protein ABHD12BAdd BLAST362

Proteomic databases

PaxDbiQ7Z5M8
PeptideAtlasiQ7Z5M8
PRIDEiQ7Z5M8

PTM databases

iPTMnetiQ7Z5M8
PhosphoSitePlusiQ7Z5M8

Expressioni

Gene expression databases

BgeeiENSG00000131969
CleanExiHS_ABHD12B
GenevisibleiQ7Z5M8 HS

Organism-specific databases

HPAiHPA002873

Interactioni

Protein-protein interaction databases

BioGridi126913, 1 interactor
STRINGi9606.ENSP00000336693

Structurei

3D structure databases

ProteinModelPortaliQ7Z5M8
SMRiQ7Z5M8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the serine esterase family.Curated

Phylogenomic databases

eggNOGiKOG1552 Eukaryota
COG1073 LUCA
GeneTreeiENSGT00390000006625
HOGENOMiHOG000230822
HOVERGENiHBG051152
InParanoidiQ7Z5M8
KOiK13705
OMAiCSTLGRK
OrthoDBiEOG091G0QYO
PhylomeDBiQ7Z5M8
TreeFamiTF315122

Family and domain databases

InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR022742 Hydrolase_4
PfamiView protein in Pfam
PF12146 Hydrolase_4, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z5M8-1) [UniParc]FASTAAdd to basket
Also known as: Variant 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.

« Hide

        10         20         30         40         50
MDAQDCQAAA SPEPPGPPAR SCVAAWWDMV DRNLRYFPHS CSMLGRKIAA
60 70 80 90 100
LYDSFTSKSL KEHVFLPLID MLIYFNFFKA PFLVDLKKPE LKIPHTVNFY
110 120 130 140 150
LRVEPGVMLG IWHTVPSCRG EDAKGKDCCW YEAALRDGNP IIVYLHGSAE
160 170 180 190 200
HRAASHRLKL VKVLSDGGFH VLSVDYRGFG DSTGKPTEEG LTTDAICVYE
210 220 230 240 250
WTKARSGITP VCLWGHSLGT GVATNAAKVL EEKGCPVDAI VLEAPFTNMW
260 270 280 290 300
VASINYPLLK IYRNIPGFLR TLMDALRKDK IIFPNDENVK FLSSPLLILH
310 320 330 340 350
GEDDRTVPLE YGKKLYEIAR NAYRNKERVK MVIFPPGFQH NLLCKSPTLL
360
ITVRDFLSKQ WS
Length:362
Mass (Da):40,776
Last modified:October 1, 2003 - v1
Checksum:iD6BD2858CE7C04AA
GO
Isoform 2 (identifier: Q7Z5M8-2) [UniParc]FASTAAdd to basket
Also known as: Variant 3

The sequence of this isoform differs from the canonical sequence as follows:
     36-112: Missing.

Show »
Length:285
Mass (Da):31,771
Checksum:i0E38F605D66D3A04
GO
Isoform 4 (identifier: Q7Z5M8-4) [UniParc]FASTAAdd to basket
Also known as: Variant 4

The sequence of this isoform differs from the canonical sequence as follows:
     36-60: YFPHSCSMLGRKIAALYDSFTSKSL → QSPISCGFKETRVKDSSHSELLPES
     61-362: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:60
Mass (Da):6,557
Checksum:i630A1E99452393C1
GO
Isoform 5 (identifier: Q7Z5M8-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     36-112: Missing.
     261-312: IYRNIPGFLR...DDRTVPLEYG → SLALSSRLEC...HHAWLIFLCF
     313-362: Missing.

Note: No experimental confirmation available.
Show »
Length:235
Mass (Da):25,316
Checksum:iA73508AF6155B38A
GO

Sequence cautioni

The sequence AAH34603 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAP78477 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence AAP78479 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035676282I → V in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs28564871Ensembl.1
Natural variantiVAR_019100334F → L1 PublicationCorresponds to variant dbSNP:rs7154732Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01068736 – 112Missing in isoform 2 and isoform 5. 3 PublicationsAdd BLAST77
Alternative sequenceiVSP_04114936 – 60YFPHS…TSKSL → QSPISCGFKETRVKDSSHSE LLPES in isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_04115061 – 362Missing in isoform 4. 1 PublicationAdd BLAST302
Alternative sequenceiVSP_010688261 – 312IYRNI…PLEYG → SLALSSRLECSGVISAHCKL RFPGSRHSPASASRVAGTTG ARHHAWLIFLCF in isoform 5. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_010689313 – 362Missing in isoform 5. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY311396 mRNA Translation: AAP78476.1
AY311397 mRNA Translation: AAP78477.1 Sequence problems.
AY311398 mRNA Translation: AAP78478.1
AY311399 mRNA Translation: AAP78479.1 Sequence problems.
AK128464 mRNA Translation: BAC87452.1
AL358334 Genomic DNA No translation available.
BC034603 mRNA Translation: AAH34603.3 Different initiation.
BC107141 mRNA Translation: AAI07142.1
BC107142 mRNA Translation: AAI07143.1
CCDSiCCDS55916.1 [Q7Z5M8-1]
CCDS9702.1 [Q7Z5M8-2]
RefSeqiNP_001193602.1, NM_001206673.1 [Q7Z5M8-1]
NP_853511.2, NM_181533.3
NP_861535.1, NM_181814.1 [Q7Z5M8-2]
UniGeneiHs.271896

Genome annotation databases

EnsembliENST00000337334; ENSP00000336693; ENSG00000131969 [Q7Z5M8-1]
ENST00000353130; ENSP00000343951; ENSG00000131969 [Q7Z5M8-2]
ENST00000382029; ENSP00000371460; ENSG00000131969 [Q7Z5M8-4]
ENST00000557345; ENSP00000450643; ENSG00000131969 [Q7Z5M8-4]
GeneIDi145447
KEGGihsa:145447
UCSCiuc001wyq.4 human [Q7Z5M8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAB12B_HUMAN
AccessioniPrimary (citable) accession number: Q7Z5M8
Secondary accession number(s): Q3KNR9
, Q3KNS0, Q7Z5M6, Q7Z5M7, Q8N4D2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: October 1, 2003
Last modified: March 28, 2018
This is version 117 of the entry and version 1 of the sequence. See 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

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