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Entry version 154 (12 Aug 2020)
Sequence version 2 (08 Apr 2008)
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Protein

Conserved oligomeric Golgi complex subunit 6

Gene

COG6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Required for normal Golgi function.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9Y2V7

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6807878, COPI-mediated anterograde transport
R-HSA-6811438, Intra-Golgi traffic
R-HSA-6811440, Retrograde transport at the Trans-Golgi-Network

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Conserved oligomeric Golgi complex subunit 6
Short name:
COG complex subunit 6
Alternative name(s):
Component of oligomeric Golgi complex 6
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COG6
Synonyms:KIAA1134
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000133103.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18621, COG6

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606977, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9Y2V7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Congenital disorder of glycosylation 2L (CDG2L)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068240549G → V in CDG2L. 1 PublicationCorresponds to variant dbSNP:rs387906959EnsemblClinVar.1
Shaheen syndrome (SHNS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly.
Related information in OMIM

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
57511

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
COG6

MalaCards human disease database

More...
MalaCardsi
COG6
MIMi614576, phenotype
615328, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000133103

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
464443, COG6-CGD
363523, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38604

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y2V7, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4105962

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COG6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
182676410

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002135131 – 657Conserved oligomeric Golgi complex subunit 6Add BLAST657

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y2V7

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y2V7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y2V7

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Y2V7

PeptideAtlas

More...
PeptideAtlasi
Q9Y2V7

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y2V7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85911 [Q9Y2V7-1]
85912 [Q9Y2V7-2]
85913 [Q9Y2V7-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y2V7

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q9Y2V7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y2V7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000133103, Expressed in tibia and 219 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y2V7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y2V7, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000133103, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q9Y2V7
With#Exp.IntAct
ARHGEF5 [Q12774]5EBI-3866319,EBI-602199
BAIAP2 - isoform 6 [Q9UQB8-6]3EBI-3866319,EBI-9092016
BCL10 [O95999]5EBI-3866319,EBI-958922
CCDC116 [Q8IYX3]3EBI-3866319,EBI-744311
CCDC120 [Q96HB5]3EBI-3866319,EBI-744556
CCHCR1 - isoform 3 [Q8TD31-3]5EBI-3866319,EBI-10175300
CNNM3 [Q8NE01]3EBI-3866319,EBI-741032
CSRP2 [Q16527]3EBI-3866319,EBI-2959737
CUL5 [Q93034]3EBI-3866319,EBI-1057139
DOCK8 - isoform 4 [Q8NF50-4]3EBI-3866319,EBI-12021848
DTNB - isoform 5 [O60941-5]3EBI-3866319,EBI-11984733
FAM110A [Q9BQ89]3EBI-3866319,EBI-1752811
FAM90A1 [Q86YD7]5EBI-3866319,EBI-6658203
FNDC11 [Q9BVV2]3EBI-3866319,EBI-744935
GAS8 [O95995]3EBI-3866319,EBI-1052570
GEM [P55040]3EBI-3866319,EBI-744104
IGFN1 - isoform 5 [Q86VF2-5]3EBI-3866319,EBI-11955401
KANK2 [Q63ZY3]3EBI-3866319,EBI-2556193
LMO4 [P61968]3EBI-3866319,EBI-2798728
MFAP1 [P55081]3EBI-3866319,EBI-1048159
MGC50722 [Q8IVT4]3EBI-3866319,EBI-14086479
MRI1 [Q9BV20]3EBI-3866319,EBI-747381
NEK6 - isoform 4 [Q9HC98-4]3EBI-3866319,EBI-11750983
NUP58 [Q9BVL2]3EBI-3866319,EBI-2811583
OAS1 - isoform p41 [P00973-2]3EBI-3866319,EBI-12081862
PLEKHA2 [Q9HB19]3EBI-3866319,EBI-4401947
POM121 - isoform 2 [Q96HA1-2]3EBI-3866319,EBI-11956563
PPP1R18 [Q6NYC8]3EBI-3866319,EBI-2557469
PPP1R32 - isoform 2 [Q7Z5V6-2]3EBI-3866319,EBI-12000762
PSMA1 [P25786]3EBI-3866319,EBI-359352
PSMB1 [P20618]3EBI-3866319,EBI-372273
QARS1 [P47897]3EBI-3866319,EBI-347462
RAB3IL1 [Q8TBN0]3EBI-3866319,EBI-743796
RAB6B [Q9NRW1]5EBI-3866319,EBI-1760079
RSPH14 [Q9UHP6]3EBI-3866319,EBI-748350
RTP5 [Q14D33]3EBI-3866319,EBI-10217913
RUNX1T1 - isoform MTG8A [Q06455-2]3EBI-3866319,EBI-11984663
SCNM1 [Q9BWG6]5EBI-3866319,EBI-748391
SMARCD1 [Q96GM5]3EBI-3866319,EBI-358489
SNAI1 [O95863]3EBI-3866319,EBI-1045459
SNAP29 [O95721]3EBI-3866319,EBI-490676
SNRPB - isoform SM-B [P14678-2]3EBI-3866319,EBI-372475
SPG21 [Q9NZD8]3EBI-3866319,EBI-742688
SYT17 [Q9BSW7]3EBI-3866319,EBI-745392
TBC1D22B [Q9NU19]3EBI-3866319,EBI-8787464
TMSB4X [P62328]3EBI-3866319,EBI-712598
TSGA10 [Q9BZW7]3EBI-3866319,EBI-744794
TSHZ3 [Q63HK5]3EBI-3866319,EBI-9053916
TTC7B [Q86TV6]3EBI-3866319,EBI-12006098
UFSP1 [Q6NVU6]3EBI-3866319,EBI-12068150
WASHC3 [Q9Y3C0]4EBI-3866319,EBI-712969
WDYHV1 [Q96HA8]5EBI-3866319,EBI-741158
ZBTB16 [Q05516]5EBI-3866319,EBI-711925
ZFC3H1 [G3V1X1]3EBI-3866319,EBI-6448783
ZNF417 [Q8TAU3]3EBI-3866319,EBI-740727

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
121575, 89 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9Y2V7

Database of interacting proteins

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DIPi
DIP-48931N

Protein interaction database and analysis system

More...
IntActi
Q9Y2V7, 128 interactors

Molecular INTeraction database

More...
MINTi
Q9Y2V7

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000397441

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9Y2V7, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9Y2V7

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the COG6 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3758, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000013518

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_011361_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y2V7

KEGG Orthology (KO)

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KOi
K20293

Identification of Orthologs from Complete Genome Data

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OMAi
RFYQQIM

Database of Orthologous Groups

More...
OrthoDBi
1370285at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y2V7

TreeFam database of animal gene trees

More...
TreeFami
TF314527

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR010490, COG6

The PANTHER Classification System

More...
PANTHERi
PTHR21506, PTHR21506, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06419, COG6, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01087, COG6, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y2V7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAEGSGEVVA VSATGAANGL NNGAGGTSAT TCNPLSRKLH KILETRLDND
60 70 80 90 100
KEMLEALKAL STFFVENSLR TRRNLRGDIE RKSLAINEEF VSIFKEVKEE
110 120 130 140 150
LESISEDVQA MSNCCQDMTS RLQAAKEQTQ DLIVKTTKLQ SESQKLEIRA
160 170 180 190 200
QVADAFLSKF QLTSDEMSLL RGTREGPITE DFFKALGRVK QIHNDVKVLL
210 220 230 240 250
RTNQQTAGLE IMEQMALLQE TAYERLYRWA QSECRTLTQE SCDVSPVLTQ
260 270 280 290 300
AMEALQDRPV LYKYTLDEFG TARRSTVVRG FIDALTRGGP GGTPRPIEMH
310 320 330 340 350
SHDPLRYVGD MLAWLHQATA SEKEHLEALL KHVTTQGVEE NIQEVVGHIT
360 370 380 390 400
EGVCRPLKVR IEQVIVAEPG AVLLYKISNL LKFYHHTISG IVGNSATALL
410 420 430 440 450
TTIEEMHLLS KKIFFNSLSL HASKLMDKVE LPPPDLGPSS ALNQTLMLLR
460 470 480 490 500
EVLASHDSSV VPLDARQADF VQVLSCVLDP LLQMCTVSAS NLGTADMATF
510 520 530 540 550
MVNSLYMMKT TLALFEFTDR RLEMLQFQIE AHLDTLINEQ ASYVLTRVGL
560 570 580 590 600
SYIYNTVQQH KPEQGSLANM PNLDSVTLKA AMVQFDRYLS APDNLLIPQL
610 620 630 640 650
NFLLSATVKE QIVKQSTELV CRAYGEVYAA VMNPINEYKD PENILHRSPQ

QVQTLLS
Length:657
Mass (Da):73,279
Last modified:April 8, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0F29785E722B5185
GO
Isoform 2 (identifier: Q9Y2V7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     610-615: EQIVKQ → RPPNGP
     616-657: Missing.

Show »
Length:615
Mass (Da):68,411
Checksum:i5329CF6140B57331
GO
Isoform 4 (identifier: Q9Y2V7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-75: MLEALKALSTFFVENSLRTRRNL → LGILLLSFSWLLFEDSVRDSRRC
     76-657: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:75
Mass (Da):7,936
Checksum:i42D1F36A3CDA1016
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YGX8H0YGX8_HUMAN
Conserved oligomeric Golgi complex ...
COG6
134Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GX38F5GX38_HUMAN
Conserved oligomeric Golgi complex ...
COG6
62Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GX76F5GX76_HUMAN
Conserved oligomeric Golgi complex ...
COG6
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD29633 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti158S → F in CAH10495 (PubMed:15057823).Curated1
Sequence conflicti379N → S in CAH10495 (PubMed:15057823).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04875910A → T2 PublicationsCorresponds to variant dbSNP:rs3812882EnsemblClinVar.1
Natural variantiVAR_04876032C → S2 PublicationsCorresponds to variant dbSNP:rs3812883EnsemblClinVar.1
Natural variantiVAR_048761300H → Y. Corresponds to variant dbSNP:rs34555836EnsemblClinVar.1
Natural variantiVAR_061110447M → T. Corresponds to variant dbSNP:rs41286961EnsemblClinVar.1
Natural variantiVAR_068240549G → V in CDG2L. 1 PublicationCorresponds to variant dbSNP:rs387906959EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04037553 – 75MLEAL…TRRNL → LGILLLSFSWLLFEDSVRDS RRC in isoform 4. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_04037676 – 657Missing in isoform 4. 1 PublicationAdd BLAST582
Alternative sequenceiVSP_001131610 – 615EQIVKQ → RPPNGP in isoform 2. 1 Publication6
Alternative sequenceiVSP_001132616 – 657Missing in isoform 2. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
CR627406 mRNA Translation: CAH10495.1
AL512505 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08619.1
BC051723 mRNA Translation: AAH51723.1
AB032960 mRNA Translation: BAA86448.1
AF116827 mRNA Translation: AAD29633.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS45042.1 [Q9Y2V7-2]
CCDS9370.1 [Q9Y2V7-1]

NCBI Reference Sequences

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RefSeqi
NP_001138551.1, NM_001145079.1 [Q9Y2V7-2]
NP_065802.1, NM_020751.2 [Q9Y2V7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000356576; ENSP00000348983; ENSG00000133103 [Q9Y2V7-4]
ENST00000416691; ENSP00000403733; ENSG00000133103 [Q9Y2V7-2]
ENST00000455146; ENSP00000397441; ENSG00000133103 [Q9Y2V7-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57511

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57511

UCSC genome browser

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UCSCi
uc001uxh.3, human [Q9Y2V7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR627406 mRNA Translation: CAH10495.1
AL512505 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08619.1
BC051723 mRNA Translation: AAH51723.1
AB032960 mRNA Translation: BAA86448.1
AF116827 mRNA Translation: AAD29633.1 Sequence problems.
CCDSiCCDS45042.1 [Q9Y2V7-2]
CCDS9370.1 [Q9Y2V7-1]
RefSeqiNP_001138551.1, NM_001145079.1 [Q9Y2V7-2]
NP_065802.1, NM_020751.2 [Q9Y2V7-1]

3D structure databases

SMRiQ9Y2V7
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi121575, 89 interactors
CORUMiQ9Y2V7
DIPiDIP-48931N
IntActiQ9Y2V7, 128 interactors
MINTiQ9Y2V7
STRINGi9606.ENSP00000397441

Chemistry databases

ChEMBLiCHEMBL4105962

PTM databases

iPTMnetiQ9Y2V7
MetOSiteiQ9Y2V7
PhosphoSitePlusiQ9Y2V7

Polymorphism and mutation databases

BioMutaiCOG6
DMDMi182676410

Proteomic databases

EPDiQ9Y2V7
jPOSTiQ9Y2V7
MassIVEiQ9Y2V7
PaxDbiQ9Y2V7
PeptideAtlasiQ9Y2V7
PRIDEiQ9Y2V7
ProteomicsDBi85911 [Q9Y2V7-1]
85912 [Q9Y2V7-2]
85913 [Q9Y2V7-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
23303, 208 antibodies

Genome annotation databases

EnsembliENST00000356576; ENSP00000348983; ENSG00000133103 [Q9Y2V7-4]
ENST00000416691; ENSP00000403733; ENSG00000133103 [Q9Y2V7-2]
ENST00000455146; ENSP00000397441; ENSG00000133103 [Q9Y2V7-1]
GeneIDi57511
KEGGihsa:57511
UCSCiuc001uxh.3, human [Q9Y2V7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57511
DisGeNETi57511
EuPathDBiHostDB:ENSG00000133103.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COG6
GeneReviewsiCOG6
HGNCiHGNC:18621, COG6
HPAiENSG00000133103, Low tissue specificity
MalaCardsiCOG6
MIMi606977, gene
614576, phenotype
615328, phenotype
neXtProtiNX_Q9Y2V7
OpenTargetsiENSG00000133103
Orphaneti464443, COG6-CGD
363523, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
PharmGKBiPA38604

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3758, Eukaryota
GeneTreeiENSGT00390000013518
HOGENOMiCLU_011361_3_0_1
InParanoidiQ9Y2V7
KOiK20293
OMAiRFYQQIM
OrthoDBi1370285at2759
PhylomeDBiQ9Y2V7
TreeFamiTF314527

Enzyme and pathway databases

PathwayCommonsiQ9Y2V7
ReactomeiR-HSA-6807878, COPI-mediated anterograde transport
R-HSA-6811438, Intra-Golgi traffic
R-HSA-6811440, Retrograde transport at the Trans-Golgi-Network

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
57511, 167 hits in 875 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
COG6, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
57511
PharosiQ9Y2V7, Tbio

Protein Ontology

More...
PROi
PR:Q9Y2V7
RNActiQ9Y2V7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000133103, Expressed in tibia and 219 other tissues
ExpressionAtlasiQ9Y2V7, baseline and differential
GenevisibleiQ9Y2V7, HS

Family and domain databases

InterProiView protein in InterPro
IPR010490, COG6
PANTHERiPTHR21506, PTHR21506, 1 hit
PfamiView protein in Pfam
PF06419, COG6, 1 hit
SMARTiView protein in SMART
SM01087, COG6, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCOG6_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y2V7
Secondary accession number(s): Q5T0U1
, Q6AI19, Q86V49, Q9ULT5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2002
Last sequence update: April 8, 2008
Last modified: August 12, 2020
This is version 154 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: 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. SIMILARITY comments
    Index of protein domains and families
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