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Q7Z5M8

- AB12B_HUMAN

UniProt

Q7Z5M8 - AB12B_HUMAN

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Protein
Abhydrolase domain-containing protein 12B
Gene
ABHD12B, C14orf29
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. hydrolase activity Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Protein family/group databases

MEROPSiS09.061.

Names & Taxonomyi

Protein namesi
Recommended name:
Abhydrolase domain-containing protein 12B (EC:3.-.-.-)
Gene namesi
Name:ABHD12B
Synonyms:C14orf29
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:19837. ABHD12B.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162375213.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 362362Abhydrolase domain-containing protein 12B
PRO_0000089887Add
BLAST

Proteomic databases

PaxDbiQ7Z5M8.
PRIDEiQ7Z5M8.

PTM databases

PhosphoSiteiQ7Z5M8.

Expressioni

Gene expression databases

BgeeiQ7Z5M8.
CleanExiHS_ABHD12B.
GenevestigatoriQ7Z5M8.

Organism-specific databases

HPAiHPA002873.

Structurei

3D structure databases

ProteinModelPortaliQ7Z5M8.
SMRiQ7Z5M8. Positions 140-310.

Family & Domainsi

Sequence similaritiesi

Belongs to the serine esterase family.

Phylogenomic databases

eggNOGiCOG1073.
HOGENOMiHOG000230822.
HOVERGENiHBG051152.
InParanoidiQ7Z5M8.
KOiK13705.
OMAiPHTVNFY.
OrthoDBiEOG75TMCD.
PhylomeDBiQ7Z5M8.
TreeFamiTF315122.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR029059. AB_hydrolase_5.
[Graphical view]
PfamiPF12695. Abhydrolase_5. 1 hit.
[Graphical view]
SUPFAMiSSF53474. SSF53474. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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

MDAQDCQAAA SPEPPGPPAR SCVAAWWDMV DRNLRYFPHS CSMLGRKIAA    50
LYDSFTSKSL KEHVFLPLID MLIYFNFFKA PFLVDLKKPE LKIPHTVNFY 100
LRVEPGVMLG IWHTVPSCRG EDAKGKDCCW YEAALRDGNP IIVYLHGSAE 150
HRAASHRLKL VKVLSDGGFH VLSVDYRGFG DSTGKPTEEG LTTDAICVYE 200
WTKARSGITP VCLWGHSLGT GVATNAAKVL EEKGCPVDAI VLEAPFTNMW 250
VASINYPLLK IYRNIPGFLR TLMDALRKDK IIFPNDENVK FLSSPLLILH 300
GEDDRTVPLE YGKKLYEIAR NAYRNKERVK MVIFPPGFQH NLLCKSPTLL 350
ITVRDFLSKQ WS 362
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 AAH34603.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti282 – 2821I → V in a breast cancer sample; somatic mutation. 1 Publication
VAR_035676
Natural varianti334 – 3341F → L.1 Publication
Corresponds to variant rs7154732 [ dbSNP | Ensembl ].
VAR_019100

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei36 – 11277Missing in isoform 2 and isoform 5.
VSP_010687Add
BLAST
Alternative sequencei36 – 6025YFPHS…TSKSL → QSPISCGFKETRVKDSSHSE LLPES in isoform 4.
VSP_041149Add
BLAST
Alternative sequencei61 – 362302Missing in isoform 4.
VSP_041150Add
BLAST
Alternative sequencei261 – 31252IYRNI…PLEYG → SLALSSRLECSGVISAHCKL RFPGSRHSPASASRVAGTTG ARHHAWLIFLCF in isoform 5.
VSP_010688Add
BLAST
Alternative sequencei313 – 36250Missing in isoform 5.
VSP_010689Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_861535.1. NM_181814.1. [Q7Z5M8-2]
XP_005267413.1. XM_005267356.1.
XP_005267414.1. XM_005267357.1. [Q7Z5M8-5]
UniGeneiHs.271896.

Genome annotation databases

EnsembliENST00000337334; ENSP00000336693; ENSG00000131969. [Q7Z5M8-1]
ENST00000353130; ENSP00000343951; ENSG00000131969. [Q7Z5M8-2]
ENST00000382029; ENSP00000371460; ENSG00000131969. [Q7Z5M8-4]
ENST00000395752; ENSP00000379101; ENSG00000131969.
ENST00000557345; ENSP00000450643; ENSG00000131969. [Q7Z5M8-4]
GeneIDi145447.
KEGGihsa:145447.
UCSCiuc001wyq.3. human. [Q7Z5M8-1]
uc001wyr.3. human. [Q7Z5M8-2]

Polymorphism databases

DMDMi50401854.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS55916.1. [Q7Z5M8-1 ]
CCDS9702.1. [Q7Z5M8-2 ]
RefSeqi NP_001193602.1. NM_001206673.1. [Q7Z5M8-1 ]
NP_861535.1. NM_181814.1. [Q7Z5M8-2 ]
XP_005267413.1. XM_005267356.1.
XP_005267414.1. XM_005267357.1. [Q7Z5M8-5 ]
UniGenei Hs.271896.

3D structure databases

ProteinModelPortali Q7Z5M8.
SMRi Q7Z5M8. Positions 140-310.
ModBasei Search...
MobiDBi Search...

Protein family/group databases

MEROPSi S09.061.

PTM databases

PhosphoSitei Q7Z5M8.

Polymorphism databases

DMDMi 50401854.

Proteomic databases

PaxDbi Q7Z5M8.
PRIDEi Q7Z5M8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000337334 ; ENSP00000336693 ; ENSG00000131969 . [Q7Z5M8-1 ]
ENST00000353130 ; ENSP00000343951 ; ENSG00000131969 . [Q7Z5M8-2 ]
ENST00000382029 ; ENSP00000371460 ; ENSG00000131969 . [Q7Z5M8-4 ]
ENST00000395752 ; ENSP00000379101 ; ENSG00000131969 .
ENST00000557345 ; ENSP00000450643 ; ENSG00000131969 . [Q7Z5M8-4 ]
GeneIDi 145447.
KEGGi hsa:145447.
UCSCi uc001wyq.3. human. [Q7Z5M8-1 ]
uc001wyr.3. human. [Q7Z5M8-2 ]

Organism-specific databases

CTDi 145447.
GeneCardsi GC14P051338.
HGNCi HGNC:19837. ABHD12B.
HPAi HPA002873.
neXtProti NX_Q7Z5M8.
PharmGKBi PA162375213.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1073.
HOGENOMi HOG000230822.
HOVERGENi HBG051152.
InParanoidi Q7Z5M8.
KOi K13705.
OMAi PHTVNFY.
OrthoDBi EOG75TMCD.
PhylomeDBi Q7Z5M8.
TreeFami TF315122.

Miscellaneous databases

GenomeRNAii 145447.
NextBioi 85101.
PROi Q7Z5M8.

Gene expression databases

Bgeei Q7Z5M8.
CleanExi HS_ABHD12B.
Genevestigatori Q7Z5M8.

Family and domain databases

Gene3Di 3.40.50.1820. 1 hit.
InterProi IPR029058. AB_hydrolase.
IPR029059. AB_hydrolase_5.
[Graphical view ]
Pfami PF12695. Abhydrolase_5. 1 hit.
[Graphical view ]
SUPFAMi SSF53474. SSF53474. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-282.

Entry informationi

Entry nameiAB12B_HUMAN
AccessioniPrimary (citable) accession number: Q7Z5M8
Secondary accession number(s): Q3KNR9
, Q3KNS0, Q7Z5M6, Q7Z5M7, Q8N4D2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: October 1, 2003
Last modified: July 9, 2014
This is version 92 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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