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Q96MI9

- CBPC4_HUMAN

UniProt

Q96MI9 - CBPC4_HUMAN

Protein

Cytosolic carboxypeptidase 4

Gene

AGBL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 81 (01 Oct 2014)
      Sequence version 2 (02 Oct 2007)
      Previous versions | rss
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    Functioni

    Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5 By similarity.By similarity

    Cofactori

    Binds 1 zinc ion per subunit.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi758 – 7581ZincBy similarity
    Metal bindingi761 – 7611ZincBy similarity
    Active sitei808 – 8081NucleophileBy similarity
    Metal bindingi855 – 8551ZincBy similarity

    GO - Molecular functioni

    1. metallocarboxypeptidase activity Source: UniProtKB
    2. tubulin binding Source: UniProtKB
    3. zinc ion binding Source: InterPro

    GO - Biological processi

    1. C-terminal protein deglutamylation Source: UniProtKB
    2. protein side chain deglutamylation Source: UniProtKB

    Keywords - Molecular functioni

    Carboxypeptidase, Hydrolase, Metalloprotease, Protease

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytosolic carboxypeptidase 4 (EC:3.4.17.-)
    Alternative name(s):
    ATP/GTP-binding protein-like 1
    Gene namesi
    Name:AGBL1
    Synonyms:CCP4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:26504. AGBL1.

    Subcellular locationi

    Cytoplasmcytosol 1 Publication

    GO - Cellular componenti

    1. cytosol Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523]: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti990 – 9901C → S in FECD8; decreased TCF4-binding. 1 Publication
    VAR_070225
    Natural varianti1029 – 106638Missing in FECD8; enriched in the nucleus, decreased TCF4-binding.
    VAR_070226Add
    BLAST

    Keywords - Diseasei

    Corneal dystrophy

    Organism-specific databases

    MIMi615523. phenotype.
    Orphaneti98974. Fuchs endothelial corneal dystrophy.
    PharmGKBiPA134923894.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10661066Cytosolic carboxypeptidase 4PRO_0000304999Add
    BLAST

    Proteomic databases

    PaxDbiQ96MI9.
    PRIDEiQ96MI9.

    PTM databases

    PhosphoSiteiQ96MI9.

    Expressioni

    Tissue specificityi

    Expressed in corneal endothelium.1 Publication

    Gene expression databases

    ArrayExpressiQ96MI9.
    BgeeiQ96MI9.
    CleanExiHS_AGBL1.
    GenevestigatoriQ96MI9.

    Organism-specific databases

    HPAiHPA039653.

    Interactioni

    Subunit structurei

    Interacts with MYLK By similarity. Interacts with TCF4.By similarity1 Publication

    Protein-protein interaction databases

    STRINGi9606.ENSP00000397173.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96MI9.
    SMRiQ96MI9. Positions 548-868.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi251 – 28434Asp-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the peptidase M14 family.Curated

    Phylogenomic databases

    eggNOGiCOG2866.
    HOGENOMiHOG000293310.
    HOVERGENiHBG107587.
    InParanoidiQ96MI9.
    OMAiLQFGTRE.
    OrthoDBiEOG712TVD.
    PhylomeDBiQ96MI9.
    TreeFamiTF313794.

    Family and domain databases

    Gene3Di1.25.10.10. 1 hit.
    InterProiIPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR000834. Peptidase_M14.
    [Graphical view]
    PfamiPF00246. Peptidase_M14. 1 hit.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 2 hits.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96MI9-1) [UniParc]FASTAAdd to Basket

    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

    MISKGGSEAL LQTLVDTART APPDYDILLP LFRLLAKVGL RDKKIGRKAL     50
    ELEALDVTLI LARKNLSHGQ NLLHCLWALR VFASSVSMGA MLGINGAMEL 100
    LFKVITPYTR KRTQAIRAAT EVLAALLKSK SNGRRAVNRG YVTSLLGLHQ 150
    DWHSHDTANA YVQIRRGLLL CLRHIAALRS GREAFLAAQG MEILFSTTQN 200
    CLDDKSMEPV ISVVLQILRQ CYPTSPLPLV TASSAYAFPV PGCITTEPPH 250
    DLPEEDFEDD GDDEVDKDSD TEDGKVEDDD LETDVNKLSS KPGLDRPEEE 300
    LMQYEVMCLE LSYSFEELQS KLGDDLNSEK TQYANHHHIP AAASSKQHCY 350
    SKDQSSCGQE REYAVQTSLL CRVKTGRSTV HLGSKKNPGV NLYQNVQSNS 400
    LRRDSSESEI PDIQASPKAD AWDVDAIFCP RMSASFSNST RTREVVKVID 450
    KLLQTHLKRV PFHDPYLYMA KARRTSSVVD FKMMAFPDVW GHCPPPTTQP 500
    MLERKCGVQR IRIFEDIRRL IQPSDVINKV VFSLDEPWPL QDNASNCLRF 550
    FSKFESGNLR KAIQVREFEY DLLVNADVNS TQHQQWFYFK VSGMQAAIPY 600
    HFNIINCEKP NSQFNYGMQP TLYSVKEALL GKPTWIRTGH EICYYKNHYR 650
    QSTAVAGGAS GKCYYTLTFA VTFPHSEDVC YLAYHYPYTY TALMTHLDIL 700
    EKSVNLKEVY FRQDVLCQTL GGNPCPLVTI TAMPESNSDE HLEQFRHRPY 750
    QVITARVHPG ESNASWVMKG TLEFLVSSDP VARLLRENFI FKIIPMLNPD 800
    GVINGNHRCS LSGEDLNRQW LSPSAHLQPT IYHAKGLLYH LSSIGRSPVV 850
    FCDFHGHSQK KNVFLYGCSI KETLWQAACT VGTSTILEEV NYRTLPKILD 900
    KLAPAFTMSS CSFLVEKSRA STARVVVWRE MGVSRSYTME SSYCGCNQGP 950
    YQCTQRLLER TKNERAHPVD GLQGLQFGTR ELEEMGAMFC LGLLILELKS 1000
    ASCSHQLLAQ AATLLSAEED ALDQHLQRLK SSNFLPKHIW FAYHFFAITN 1050
    FFKMNLLLHV SPVCDT 1066

    Note: No experimental confirmation available.

    Length:1,066
    Mass (Da):120,281
    Last modified:October 2, 2007 - v2
    Checksum:iFC08DC1C44991096
    GO
    Isoform 2 (identifier: Q96MI9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-301: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:765
    Mass (Da):87,153
    Checksum:i9E0A227F4533D78A
    GO
    Isoform 3 (identifier: Q96MI9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-269: Missing.
         270-276: DTEDGKV → MGQCYNL

    Note: No experimental confirmation available.

    Show »
    Length:797
    Mass (Da):90,789
    Checksum:i640C4FC2882C7DD0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti446 – 4461V → A in BAB71299. (PubMed:14702039)Curated
    Sequence conflicti524 – 5241S → G in BAB71299. (PubMed:14702039)Curated
    Sequence conflicti628 – 6281A → D in BAB71299. (PubMed:14702039)Curated
    Sequence conflicti658 – 6581G → R in AAI28153. (PubMed:15489334)Curated
    Sequence conflicti747 – 7471H → E in BAB71299. (PubMed:14702039)Curated
    Sequence conflicti747 – 7471H → E in AAI28153. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti417 – 4171P → L.
    Corresponds to variant rs8029810 [ dbSNP | Ensembl ].
    VAR_048604
    Natural varianti435 – 4351S → P.
    Corresponds to variant rs11857527 [ dbSNP | Ensembl ].
    VAR_048605
    Natural varianti990 – 9901C → S in FECD8; decreased TCF4-binding. 1 Publication
    VAR_070225
    Natural varianti1010 – 10101Q → R.
    Corresponds to variant rs8028043 [ dbSNP | Ensembl ].
    VAR_059195
    Natural varianti1029 – 106638Missing in FECD8; enriched in the nucleus, decreased TCF4-binding.
    VAR_070226Add
    BLAST

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 301301Missing in isoform 2. 1 PublicationVSP_028176Add
    BLAST
    Alternative sequencei1 – 269269Missing in isoform 3. 1 PublicationVSP_028177Add
    BLAST
    Alternative sequencei270 – 2767DTEDGKV → MGQCYNL in isoform 3. 1 PublicationVSP_028178

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056872 mRNA. Translation: BAB71299.1.
    AC016180 Genomic DNA. No translation available.
    AC107978 Genomic DNA. No translation available.
    AC025842 Genomic DNA. No translation available.
    AC069197 Genomic DNA. No translation available.
    AC022817 Genomic DNA. No translation available.
    AC012229 Genomic DNA. No translation available.
    AC018950 Genomic DNA. No translation available.
    AC105204 Genomic DNA. No translation available.
    AC078905 Genomic DNA. No translation available.
    BC128152 mRNA. Translation: AAI28153.1.
    CCDSiCCDS58398.1. [Q96MI9-1]
    RefSeqiNP_689549.2. NM_152336.2. [Q96MI9-1]
    UniGeneiHs.679833.

    Genome annotation databases

    EnsembliENST00000441037; ENSP00000413001; ENSG00000166748. [Q96MI9-1]
    GeneIDi123624.
    KEGGihsa:123624.
    UCSCiuc002blz.1. human. [Q96MI9-1]
    uc002bmb.1. human. [Q96MI9-2]

    Polymorphism databases

    DMDMi158706472.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056872 mRNA. Translation: BAB71299.1 .
    AC016180 Genomic DNA. No translation available.
    AC107978 Genomic DNA. No translation available.
    AC025842 Genomic DNA. No translation available.
    AC069197 Genomic DNA. No translation available.
    AC022817 Genomic DNA. No translation available.
    AC012229 Genomic DNA. No translation available.
    AC018950 Genomic DNA. No translation available.
    AC105204 Genomic DNA. No translation available.
    AC078905 Genomic DNA. No translation available.
    BC128152 mRNA. Translation: AAI28153.1 .
    CCDSi CCDS58398.1. [Q96MI9-1 ]
    RefSeqi NP_689549.2. NM_152336.2. [Q96MI9-1 ]
    UniGenei Hs.679833.

    3D structure databases

    ProteinModelPortali Q96MI9.
    SMRi Q96MI9. Positions 548-868.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000397173.

    PTM databases

    PhosphoSitei Q96MI9.

    Polymorphism databases

    DMDMi 158706472.

    Proteomic databases

    PaxDbi Q96MI9.
    PRIDEi Q96MI9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000441037 ; ENSP00000413001 ; ENSG00000166748 . [Q96MI9-1 ]
    GeneIDi 123624.
    KEGGi hsa:123624.
    UCSCi uc002blz.1. human. [Q96MI9-1 ]
    uc002bmb.1. human. [Q96MI9-2 ]

    Organism-specific databases

    CTDi 123624.
    GeneCardsi GC15P086685.
    HGNCi HGNC:26504. AGBL1.
    HPAi HPA039653.
    MIMi 615496. gene.
    615523. phenotype.
    neXtProti NX_Q96MI9.
    Orphaneti 98974. Fuchs endothelial corneal dystrophy.
    PharmGKBi PA134923894.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2866.
    HOGENOMi HOG000293310.
    HOVERGENi HBG107587.
    InParanoidi Q96MI9.
    OMAi LQFGTRE.
    OrthoDBi EOG712TVD.
    PhylomeDBi Q96MI9.
    TreeFami TF313794.

    Miscellaneous databases

    ChiTaRSi AGBL1. human.
    GenomeRNAii 123624.
    NextBioi 81119.
    PROi Q96MI9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96MI9.
    Bgeei Q96MI9.
    CleanExi HS_AGBL1.
    Genevestigatori Q96MI9.

    Family and domain databases

    Gene3Di 1.25.10.10. 1 hit.
    InterProi IPR011989. ARM-like.
    IPR016024. ARM-type_fold.
    IPR000834. Peptidase_M14.
    [Graphical view ]
    Pfami PF00246. Peptidase_M14. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "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 3).
      Tissue: Prostate.
    2. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    4. "Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4."
      Riazuddin S.A., Vasanth S., Katsanis N., Gottsch J.D.
      Am. J. Hum. Genet. 93:758-764(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS FECD8 SER-990 AND 1029-LEU--THR-1066 DEL, INTERACTION WITH TCF4, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiCBPC4_HUMAN
    AccessioniPrimary (citable) accession number: Q96MI9
    Secondary accession number(s): A1A4X5, A6NJH6, C9JHL5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 2, 2007
    Last sequence update: October 2, 2007
    Last modified: October 1, 2014
    This is version 81 of the entry and version 2 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 15
      Human chromosome 15: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Peptidase families
      Classification of peptidase families and list of entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3