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Q96MI9

- CBPC4_HUMAN

UniProt

Q96MI9 - CBPC4_HUMAN

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Protein

Cytosolic carboxypeptidase 4

Gene

AGBL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

Cofactori

Zn2+By similarityNote: 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
Complete GO annotation...

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. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

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. 1 Publication
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

BgeeiQ96MI9.
CleanExiHS_AGBL1.
ExpressionAtlasiQ96MI9. baseline.
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 163-199, 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.
GeneTreeiENSGT00550000074405.
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

        10         20         30         40         50
MISKGGSEAL LQTLVDTART APPDYDILLP LFRLLAKVGL RDKKIGRKAL
60 70 80 90 100
ELEALDVTLI LARKNLSHGQ NLLHCLWALR VFASSVSMGA MLGINGAMEL
110 120 130 140 150
LFKVITPYTR KRTQAIRAAT EVLAALLKSK SNGRRAVNRG YVTSLLGLHQ
160 170 180 190 200
DWHSHDTANA YVQIRRGLLL CLRHIAALRS GREAFLAAQG MEILFSTTQN
210 220 230 240 250
CLDDKSMEPV ISVVLQILRQ CYPTSPLPLV TASSAYAFPV PGCITTEPPH
260 270 280 290 300
DLPEEDFEDD GDDEVDKDSD TEDGKVEDDD LETDVNKLSS KPGLDRPEEE
310 320 330 340 350
LMQYEVMCLE LSYSFEELQS KLGDDLNSEK TQYANHHHIP AAASSKQHCY
360 370 380 390 400
SKDQSSCGQE REYAVQTSLL CRVKTGRSTV HLGSKKNPGV NLYQNVQSNS
410 420 430 440 450
LRRDSSESEI PDIQASPKAD AWDVDAIFCP RMSASFSNST RTREVVKVID
460 470 480 490 500
KLLQTHLKRV PFHDPYLYMA KARRTSSVVD FKMMAFPDVW GHCPPPTTQP
510 520 530 540 550
MLERKCGVQR IRIFEDIRRL IQPSDVINKV VFSLDEPWPL QDNASNCLRF
560 570 580 590 600
FSKFESGNLR KAIQVREFEY DLLVNADVNS TQHQQWFYFK VSGMQAAIPY
610 620 630 640 650
HFNIINCEKP NSQFNYGMQP TLYSVKEALL GKPTWIRTGH EICYYKNHYR
660 670 680 690 700
QSTAVAGGAS GKCYYTLTFA VTFPHSEDVC YLAYHYPYTY TALMTHLDIL
710 720 730 740 750
EKSVNLKEVY FRQDVLCQTL GGNPCPLVTI TAMPESNSDE HLEQFRHRPY
760 770 780 790 800
QVITARVHPG ESNASWVMKG TLEFLVSSDP VARLLRENFI FKIIPMLNPD
810 820 830 840 850
GVINGNHRCS LSGEDLNRQW LSPSAHLQPT IYHAKGLLYH LSSIGRSPVV
860 870 880 890 900
FCDFHGHSQK KNVFLYGCSI KETLWQAACT VGTSTILEEV NYRTLPKILD
910 920 930 940 950
KLAPAFTMSS CSFLVEKSRA STARVVVWRE MGVSRSYTME SSYCGCNQGP
960 970 980 990 1000
YQCTQRLLER TKNERAHPVD GLQGLQFGTR ELEEMGAMFC LGLLILELKS
1010 1020 1030 1040 1050
ASCSHQLLAQ AATLLSAEED ALDQHLQRLK SSNFLPKHIW FAYHFFAITN
1060
FFKMNLLLHV SPVCDT

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. 1 Publication
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 163-199, 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.
GeneTreei ENSGT00550000074405.
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

Bgeei Q96MI9.
CleanExi HS_AGBL1.
ExpressionAtlasi Q96MI9. baseline.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 83 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