Q7Z5M8 (AB12B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Abhydrolase domain-containing protein 12B
EC=3.-.-.-

Gene names

Name:	ABHD12B
Synonyms:	C14orf29

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	362 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	acylglycerol 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 362	362	Abhydrolase domain-containing protein 12B		PRO_0000089887
Natural variations
	Alternative sequence	36 – 112	77	Missing in isoform 2 and isoform 5.		VSP_010687
	Alternative sequence	36 – 60	25	YFPHS…TSKSL → QSPISCGFKETRVKDSSHSE LLPES in isoform 4.		VSP_041149
	Alternative sequence	61 – 362	302	Missing in isoform 4.		VSP_041150
	Alternative sequence	261 – 312	52	IYRNI…PLEYG → SLALSSRLECSGVISAHCKL RFPGSRHSPASASRVAGTTG ARHHAWLIFLCF in isoform 5.		VSP_010688
	Alternative sequence	313 – 362	50	Missing in isoform 5.		VSP_010689
	Natural variant	282	1	I → V in a breast cancer sample; somatic mutation. Ref.5		VAR_035676
	Natural variant	334	1	F → L. Ref.4 Corresponds to variant rs7154732 [ dbSNP | Ensembl ].		VAR_019100

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Variant 1) [UniParc]. Last modified October 1, 2003. Version 1. Checksum: D6BD2858CE7C04AA	FASTA	362	40,776
	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
	Isoform 2 (Variant 3) [UniParc]. Checksum: 0E38F605D66D3A04	FASTA	285	31,771
	10 20 30 40 50 60 MDAQDCQAAA SPEPPGPPAR SCVAAWWDMV DRNLRHTVPS CRGEDAKGKD CCWYEAALRD 70 80 90 100 110 120 GNPIIVYLHG SAEHRAASHR LKLVKVLSDG GFHVLSVDYR GFGDSTGKPT EEGLTTDAIC 130 140 150 160 170 180 VYEWTKARSG ITPVCLWGHS LGTGVATNAA KVLEEKGCPV DAIVLEAPFT NMWVASINYP 190 200 210 220 230 240 LLKIYRNIPG FLRTLMDALR KDKIIFPNDE NVKFLSSPLL ILHGEDDRTV PLEYGKKLYE 250 260 270 280 IARNAYRNKE RVKMVIFPPG FQHNLLCKSP TLLITVRDFL SKQWS
	Isoform 4 (Variant 4) [UniParc]. Checksum: 630A1E99452393C1	FASTA	60	6,557
	10 20 30 40 50 60 MDAQDCQAAA SPEPPGPPAR SCVAAWWDMV DRNLRQSPIS CGFKETRVKD SSHSELLPES
	Isoform 5 [UniParc]. Checksum: A73508AF6155B38A	FASTA	235	25,316
	10 20 30 40 50 60 MDAQDCQAAA SPEPPGPPAR SCVAAWWDMV DRNLRHTVPS CRGEDAKGKD CCWYEAALRD 70 80 90 100 110 120 GNPIIVYLHG SAEHRAASHR LKLVKVLSDG GFHVLSVDYR GFGDSTGKPT EEGLTTDAIC 130 140 150 160 170 180 VYEWTKARSG ITPVCLWGHS LGTGVATNAA KVLEEKGCPV DAIVLEAPFT NMWVASINYP 190 200 210 220 230 LLKSLALSSR LECSGVISAH CKLRFPGSRH SPASASRVAG TTGARHHAWL IFLCF

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00375617. IPI00385288. IPI00419019. IPI00419020.
RefSeq	NP_001193602.1. NM_001206673.1. NP_861535.1. NM_181814.1.
UniGene	Hs.271896.
3D structure databases
ProteinModelPortal	Q7Z5M8.
ModBase	Search...
Protein family/group databases
MEROPS	S09.061.
PTM databases
PhosphoSite	Q7Z5M8.
Polymorphism databases
DMDM	50401854.
Proteomic databases
PaxDb	Q7Z5M8.
PRIDE	Q7Z5M8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000337334; ENSP00000336693; ENSG00000131969. ENST00000353130; ENSP00000343951; ENSG00000131969. ENST00000382029; ENSP00000371460; ENSG00000131969. ENST00000395752; ENSP00000379101; ENSG00000131969. ENST00000557345; ENSP00000450643; ENSG00000131969.
GeneID	145447.
KEGG	hsa:145447.
UCSC	uc001wyq.3. human. uc001wyr.3. human.
Organism-specific databases
CTD	145447.
GeneCards	GC14P051338.
HGNC	HGNC:19837. ABHD12B.
HPA	HPA002873.
neXtProt	NX_Q7Z5M8.
PharmGKB	PA162375213.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1073.
HOGENOM	HOG000230822.
HOVERGEN	HBG051152.
InParanoid	Q7Z5M8.
KO	K13705.
OMA	PHTVNFY.
PhylomeDB	Q7Z5M8.
Gene expression databases
Bgee	Q7Z5M8.
CleanEx	HS_ABHD12B.
Genevestigator	Q7Z5M8.
GermOnline	ENSG00000131969. Homo sapiens.
Family and domain databases
InterPro	IPR026605. ABHD12. [Graphical view]
PANTHER	PTHR12277:SF4. PTHR12277:SF4. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	145447.
NextBio	85101.

Entry information

Entry name

AB12B_HUMAN

Accession

Primary (citable) accession number: Q7Z5M8
Secondary accession number(s): Q3KNR9 , Q3KNS0, Q7Z5M6, Q7Z5M7, Q8N4D2

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 5, 2004
Last sequence update:	October 1, 2003
Last modified:	May 1, 2013
This is version 82 of the entry and version 1 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.