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Q7Z5M8 (AB12B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Abhydrolase domain-containing protein 12B

EC=3.-.-.-
Gene names
Name:ABHD12B
Synonyms:C14orf29
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length362 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Belongs to the serine esterase family.

Sequence caution

The sequence AAH34603.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAP78477.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

The sequence AAP78479.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionHydrolase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functionacylglycerol lipase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z5M8-1)

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.
Isoform 2 (identifier: Q7Z5M8-2)

Also known as: Variant 3;

The sequence of this isoform differs from the canonical sequence as follows:
     36-112: Missing.
Isoform 4 (identifier: Q7Z5M8-4)

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.
Isoform 5 (identifier: Q7Z5M8-5)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 362362Abhydrolase domain-containing protein 12B
PRO_0000089887

Natural variations

Alternative sequence36 – 11277Missing in isoform 2 and isoform 5.
VSP_010687
Alternative sequence36 – 6025YFPHS…TSKSL → QSPISCGFKETRVKDSSHSE LLPES in isoform 4.
VSP_041149
Alternative sequence61 – 362302Missing in isoform 4.
VSP_041150
Alternative sequence261 – 31252IYRNI…PLEYG → SLALSSRLECSGVISAHCKL RFPGSRHSPASASRVAGTTG ARHHAWLIFLCF in isoform 5.
VSP_010688
Alternative sequence313 – 36250Missing in isoform 5.
VSP_010689
Natural variant2821I → V in a breast cancer sample; somatic mutation. Ref.5
VAR_035676
Natural variant3341F → L. Ref.4
Corresponds to variant rs7154732 [ dbSNP | Ensembl ].
VAR_019100

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Variant 1) [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: D6BD2858CE7C04AA

FASTA36240,776
        10         20         30         40         50         60 
MDAQDCQAAA SPEPPGPPAR SCVAAWWDMV DRNLRYFPHS CSMLGRKIAA LYDSFTSKSL 

        70         80         90        100        110        120 
KEHVFLPLID MLIYFNFFKA PFLVDLKKPE LKIPHTVNFY LRVEPGVMLG IWHTVPSCRG 

       130        140        150        160        170        180 
EDAKGKDCCW YEAALRDGNP IIVYLHGSAE HRAASHRLKL VKVLSDGGFH VLSVDYRGFG 

       190        200        210        220        230        240 
DSTGKPTEEG LTTDAICVYE WTKARSGITP VCLWGHSLGT GVATNAAKVL EEKGCPVDAI 

       250        260        270        280        290        300 
VLEAPFTNMW VASINYPLLK IYRNIPGFLR TLMDALRKDK IIFPNDENVK FLSSPLLILH 

       310        320        330        340        350        360 
GEDDRTVPLE YGKKLYEIAR NAYRNKERVK MVIFPPGFQH NLLCKSPTLL ITVRDFLSKQ 


WS 

« Hide

Isoform 2 (Variant 3) [UniParc].

Checksum: 0E38F605D66D3A04
Show »

FASTA28531,771
Isoform 4 (Variant 4) [UniParc].

Checksum: 630A1E99452393C1
Show »

FASTA606,557
Isoform 5 [UniParc].

Checksum: A73508AF6155B38A
Show »

FASTA23525,316

References

« Hide 'large scale' references
[1]"Cloning and characterization of C14orf29."
Schulz H.L., Weber B.H.F.
Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 4).
[2]"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. expand/collapse author list , 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(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
Tissue: Kidney.
[3]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 84-362 (ISOFORM 1), VARIANT LEU-334.
Tissue: Skin.
[5]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-282.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001193602.1. NM_001206673.1.
NP_861535.1. NM_181814.1.
XP_005267413.1. XM_005267356.1.
XP_005267414.1. XM_005267357.1.
UniGeneHs.271896.

3D structure databases

ProteinModelPortalQ7Z5M8.
SMRQ7Z5M8. Positions 140-310.
ModBaseSearch...
MobiDBSearch...

Protein family/group databases

MEROPSS09.061.

PTM databases

PhosphoSiteQ7Z5M8.

Polymorphism databases

DMDM50401854.

Proteomic databases

PaxDbQ7Z5M8.
PRIDEQ7Z5M8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337334; ENSP00000336693; ENSG00000131969. [Q7Z5M8-1]
ENST00000353130; ENSP00000343951; ENSG00000131969. [Q7Z5M8-2]
ENST00000382029; ENSP00000371460; ENSG00000131969. [Q7Z5M8-4]
ENST00000395752; ENSP00000379101; ENSG00000131969.
ENST00000557345; ENSP00000450643; ENSG00000131969. [Q7Z5M8-4]
GeneID145447.
KEGGhsa:145447.
UCSCuc001wyq.3. human. [Q7Z5M8-1]
uc001wyr.3. human. [Q7Z5M8-2]

Organism-specific databases

CTD145447.
GeneCardsGC14P051338.
HGNCHGNC:19837. ABHD12B.
HPAHPA002873.
neXtProtNX_Q7Z5M8.
PharmGKBPA162375213.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1073.
HOGENOMHOG000230822.
HOVERGENHBG051152.
InParanoidQ7Z5M8.
KOK13705.
OMAPHTVNFY.
OrthoDBEOG75TMCD.
PhylomeDBQ7Z5M8.
TreeFamTF315122.

Gene expression databases

BgeeQ7Z5M8.
CleanExHS_ABHD12B.
GenevestigatorQ7Z5M8.

Family and domain databases

InterProIPR026605. ABHD12.
[Graphical view]
PANTHERPTHR12277:SF4. PTHR12277:SF4. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi145447.
NextBio85101.
PROQ7Z5M8.

Entry information

Entry nameAB12B_HUMAN
AccessionPrimary (citable) accession number: Q7Z5M8
Secondary accession number(s): Q3KNR9 expand/collapse secondary AC list , Q3KNS0, Q7Z5M6, Q7Z5M7, Q8N4D2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: October 1, 2003
Last modified: April 16, 2014
This is version 89 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM