Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q96MI9 (CBPC4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 78. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytosolic carboxypeptidase 4

EC=3.4.17.-
Alternative name(s):
ATP/GTP-binding protein-like 1
Gene names
Name:AGBL1
Synonyms:CCP4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1066 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Cofactor

Binds 1 zinc ion per subunit By similarity.

Subunit structure

Interacts with MYLK By similarity. Interacts with TCF4. Ref.4

Subcellular location

Cytoplasmcytosol Ref.4.

Tissue specificity

Expressed in corneal endothelium. Ref.4

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the peptidase M14 family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96MI9-1)

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.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q96MI9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-301: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96MI9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-269: Missing.
     270-276: DTEDGKV → MGQCYNL
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10661066Cytosolic carboxypeptidase 4
PRO_0000304999

Regions

Compositional bias251 – 28434Asp-rich

Sites

Active site8081Nucleophile By similarity
Metal binding7581Zinc By similarity
Metal binding7611Zinc By similarity
Metal binding8551Zinc By similarity

Natural variations

Alternative sequence1 – 301301Missing in isoform 2.
VSP_028176
Alternative sequence1 – 269269Missing in isoform 3.
VSP_028177
Alternative sequence270 – 2767DTEDGKV → MGQCYNL in isoform 3.
VSP_028178
Natural variant4171P → L.
Corresponds to variant rs8029810 [ dbSNP | Ensembl ].
VAR_048604
Natural variant4351S → P.
Corresponds to variant rs11857527 [ dbSNP | Ensembl ].
VAR_048605
Natural variant9901C → S in FECD8; decreased TCF4-binding. Ref.4
VAR_070225
Natural variant10101Q → R.
Corresponds to variant rs8028043 [ dbSNP | Ensembl ].
VAR_059195
Natural variant1029 – 106638Missing in FECD8; enriched in the nucleus, decreased TCF4-binding.
VAR_070226

Experimental info

Sequence conflict4461V → A in BAB71299. Ref.1
Sequence conflict5241S → G in BAB71299. Ref.1
Sequence conflict6281A → D in BAB71299. Ref.1
Sequence conflict6581G → R in AAI28153. Ref.3
Sequence conflict7471H → E in BAB71299. Ref.1
Sequence conflict7471H → E in AAI28153. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 2, 2007. Version 2.
Checksum: FC08DC1C44991096

FASTA1,066120,281
        10         20         30         40         50         60 
MISKGGSEAL LQTLVDTART APPDYDILLP LFRLLAKVGL RDKKIGRKAL ELEALDVTLI 

        70         80         90        100        110        120 
LARKNLSHGQ NLLHCLWALR VFASSVSMGA MLGINGAMEL LFKVITPYTR KRTQAIRAAT 

       130        140        150        160        170        180 
EVLAALLKSK SNGRRAVNRG YVTSLLGLHQ DWHSHDTANA YVQIRRGLLL CLRHIAALRS 

       190        200        210        220        230        240 
GREAFLAAQG MEILFSTTQN CLDDKSMEPV ISVVLQILRQ CYPTSPLPLV TASSAYAFPV 

       250        260        270        280        290        300 
PGCITTEPPH DLPEEDFEDD GDDEVDKDSD TEDGKVEDDD LETDVNKLSS KPGLDRPEEE 

       310        320        330        340        350        360 
LMQYEVMCLE LSYSFEELQS KLGDDLNSEK TQYANHHHIP AAASSKQHCY SKDQSSCGQE 

       370        380        390        400        410        420 
REYAVQTSLL CRVKTGRSTV HLGSKKNPGV NLYQNVQSNS LRRDSSESEI PDIQASPKAD 

       430        440        450        460        470        480 
AWDVDAIFCP RMSASFSNST RTREVVKVID KLLQTHLKRV PFHDPYLYMA KARRTSSVVD 

       490        500        510        520        530        540 
FKMMAFPDVW GHCPPPTTQP MLERKCGVQR IRIFEDIRRL IQPSDVINKV VFSLDEPWPL 

       550        560        570        580        590        600 
QDNASNCLRF FSKFESGNLR KAIQVREFEY DLLVNADVNS TQHQQWFYFK VSGMQAAIPY 

       610        620        630        640        650        660 
HFNIINCEKP NSQFNYGMQP TLYSVKEALL GKPTWIRTGH EICYYKNHYR QSTAVAGGAS 

       670        680        690        700        710        720 
GKCYYTLTFA VTFPHSEDVC YLAYHYPYTY TALMTHLDIL EKSVNLKEVY FRQDVLCQTL 

       730        740        750        760        770        780 
GGNPCPLVTI TAMPESNSDE HLEQFRHRPY QVITARVHPG ESNASWVMKG TLEFLVSSDP 

       790        800        810        820        830        840 
VARLLRENFI FKIIPMLNPD GVINGNHRCS LSGEDLNRQW LSPSAHLQPT IYHAKGLLYH 

       850        860        870        880        890        900 
LSSIGRSPVV FCDFHGHSQK KNVFLYGCSI KETLWQAACT VGTSTILEEV NYRTLPKILD 

       910        920        930        940        950        960 
KLAPAFTMSS CSFLVEKSRA STARVVVWRE MGVSRSYTME SSYCGCNQGP YQCTQRLLER 

       970        980        990       1000       1010       1020 
TKNERAHPVD GLQGLQFGTR ELEEMGAMFC LGLLILELKS ASCSHQLLAQ AATLLSAEED 

      1030       1040       1050       1060 
ALDQHLQRLK SSNFLPKHIW FAYHFFAITN FFKMNLLLHV SPVCDT 

« Hide

Isoform 2 [UniParc].

Checksum: 9E0A227F4533D78A
Show »

FASTA76587,153
Isoform 3 [UniParc].

Checksum: 640C4FC2882C7DD0
Show »

FASTA79790,789

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_689549.2. NM_152336.2.
UniGeneHs.679833.

3D structure databases

ProteinModelPortalQ96MI9.
SMRQ96MI9. Positions 548-868.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000397173.

PTM databases

PhosphoSiteQ96MI9.

Polymorphism databases

DMDM158706472.

Proteomic databases

PaxDbQ96MI9.
PRIDEQ96MI9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000441037; ENSP00000413001; ENSG00000166748. [Q96MI9-1]
GeneID123624.
KEGGhsa:123624.
UCSCuc002blz.1. human. [Q96MI9-1]
uc002bmb.1. human. [Q96MI9-2]

Organism-specific databases

CTD123624.
GeneCardsGC15P086685.
HGNCHGNC:26504. AGBL1.
HPAHPA039653.
MIM615496. gene.
615523. phenotype.
neXtProtNX_Q96MI9.
Orphanet98974. Fuchs endothelial corneal dystrophy.
PharmGKBPA134923894.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2866.
HOGENOMHOG000293310.
HOVERGENHBG107587.
InParanoidQ96MI9.
OMALQFGTRE.
OrthoDBEOG712TVD.
PhylomeDBQ96MI9.
TreeFamTF313794.

Gene expression databases

ArrayExpressQ96MI9.
BgeeQ96MI9.
CleanExHS_AGBL1.
GenevestigatorQ96MI9.

Family and domain databases

Gene3D1.25.10.10. 1 hit.
InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000834. Peptidase_M14.
[Graphical view]
PfamPF00246. Peptidase_M14. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 2 hits.
ProtoNetSearch...

Other

ChiTaRSAGBL1. human.
GenomeRNAi123624.
NextBio81119.
PROQ96MI9.
SOURCESearch...

Entry information

Entry nameCBPC4_HUMAN
AccessionPrimary (citable) accession number: Q96MI9
Secondary accession number(s): A1A4X5, A6NJH6, C9JHL5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: April 16, 2014
This is version 78 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM