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Q7Z5M8

- AB12B_HUMAN

UniProt

Q7Z5M8 - AB12B_HUMAN

Protein

Abhydrolase domain-containing protein 12B

Gene

ABHD12B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 1 (01 Oct 2003)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. hydrolase activity Source: UniProtKB-KW

    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 12BPRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the serine esterase family.Curated

    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. 3 PublicationsVSP_010687Add
    BLAST
    Alternative sequencei36 – 6025YFPHS…TSKSL → QSPISCGFKETRVKDSSHSE LLPES in isoform 4. 1 PublicationVSP_041149Add
    BLAST
    Alternative sequencei61 – 362302Missing in isoform 4. 1 PublicationVSP_041150Add
    BLAST
    Alternative sequencei261 – 31252IYRNI…PLEYG → SLALSSRLECSGVISAHCKL RFPGSRHSPASASRVAGTTG ARHHAWLIFLCF in isoform 5. 1 PublicationVSP_010688Add
    BLAST
    Alternative sequencei313 – 36250Missing in isoform 5. 1 PublicationVSP_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]
    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 ]
    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

    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: October 1, 2014
    This is version 93 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