Reviewed, UniProtKB/Swiss-Prot Q7Z5M8 (AB12B_HUMAN)

Names and origin

Protein names

Recommended name:
    Abhydrolase domain-containing protein 12B

Gene names

Name:	ABHD12B
Synonyms:	C14orf29

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	362 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Sequence similarities

Belongs to the serine esterase family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 5 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 3 (identifier: Q7Z5M8-3)

Also known as: Variant 2;

The sequence of this isoform differs from the canonical sequence as follows:
     1-107: Missing.

Isoform 4 (identifier: Q7Z5M8-4)

Also known as: Variant 4;

The sequence of this isoform differs from the canonical sequence as follows:
     1-248: Missing.

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.

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 362	362	Abhydrolase domain-containing protein 12B
Natural variations
	Alternative sequence	1 – 248	248	Missing in isoform 4.
	Alternative sequence	1 – 107	107	Missing in isoform 3.
	Alternative sequence	36 – 112	77	Missing in isoform 2 and isoform 5.
	Alternative sequence	261 – 312	52	IYRNI…PLEYG → SLALSSRLECSGVISAHCKL RFPGSRHSPASASRVAGTTG ARHHAWLIFLCF in isoform 5.
	Alternative sequence	313 – 362	50	Missing in isoform 5.
	Natural variant	282	1	I → V in a breast cancer sample; somatic mutation.
	Natural variant	334	1	F → L: dbSNP rs7154732.

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		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 3 (Variant 2) [UniParc]. Checksum: 84AC80BCDF5A4E57		255	28,576
	10 20 30 40 50 60 MLGIWHTVPS CRGEDAKGKD CCWYEAALRD GNPIIVYLHG SAEHRAASHR LKLVKVLSDG 70 80 90 100 110 120 GFHVLSVDYR GFGDSTGKPT EEGLTTDAIC VYEWTKARSG ITPVCLWGHS LGTGVATNAA 130 140 150 160 170 180 KVLEEKGCPV DAIVLEAPFT NMWVASINYP LLKIYRNIPG FLRTLMDALR KDKIIFPNDE 190 200 210 220 230 240 NVKFLSSPLL ILHGEDDRTV PLEYGKKLYE IARNAYRNKE RVKMVIFPPG FQHNLLCKSP 250 TLLITVRDFL SKQWS
	Isoform 4 (Variant 4) [UniParc]. Checksum: 3DD0FFED8EA78352		114	13,423
	10 20 30 40 50 60 MWVASINYPL LKIYRNIPGF LRTLMDALRK DKIIFPNDEN VKFLSSPLLI LHGEDDRTVP 70 80 90 100 110 LEYGKKLYEI ARNAYRNKER VKMVIFPPGF QHNLLCKSPT LLITVRDFLS KQWS
	Isoform 5 [UniParc]. Checksum: A73508AF6155B38A		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

[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; 3 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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Kidney.
[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: 15489334] [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.
[4]	"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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-282.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY311396 mRNA. Translation: AAP78476.1. AY311397 mRNA. Translation: AAP78477.1. AY311398 mRNA. Translation: AAP78478.1. AY311399 mRNA. Translation: AAP78479.1. AK128464 mRNA. Translation: BAC87452.1. BC034603 mRNA. Translation: AAH34603.3. Different initiation. BC107141 mRNA. Translation: AAI07142.1. BC107142 mRNA. Translation: AAI07143.1.
RefSeq	NP_853511.2. NP_861535.1.
UniGene	Hs.271896
3D structure databases
ModBase	Search...
Protein family/group databases
MEROPS	S09.061.
Genome annotation databases
Ensembl	ENSG00000131969. Homo sapiens. [Contig view]
GeneID	145447.
KEGG	hsa:145447.
Organism-specific databases
HGNC	HGNC:19837. ABHD12B.
HPA	HPA002873.
PharmGKB	PA134882078.
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOGENOM	Q7Z5M8.
HOVERGEN	Q7Z5M8.
Gene expression databases
ArrayExpress	Q7Z5M8.
CleanEx	HS_ABHD12B.
GermOnline	ENSG00000131969. Homo sapiens.
Family and domain databases
InterPro	IPR000073. AB_hydrolase_1. [Graphical view]
Pfam	PF00561. Abhydrolase_1. 1 hit. [Graphical view]
ProDom	Q7Z5M8. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
ProtoNet	Search...

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:	July 22, 2008
This is version 41 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)