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Entry version 164 (17 Jun 2020)
Sequence version 3 (02 Nov 2010)
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Protein

Conserved oligomeric Golgi complex subunit 4

Gene

COG4

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 (PubMed:19536132, PubMed:30290151). Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1 (PubMed:19536132).2 Publications

<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 - Molecular functioni

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

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 4
Short name:
COG complex subunit 4
Alternative name(s):
Component of oligomeric Golgi complex 4
<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:COG4
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000103051.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18620 COG4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606976 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H9E3

<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

Cytoplasm, 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 2J (CDG2J)2 Publications
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.
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_063767729R → W in CDG2J; severe defects in glycosylation. 2 Publications1
Saul-Wilson syndrome (SWILS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers. Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while the hands and feet exhibit short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081564512G → R in SWILS; delayed anterograde vesicular trafficking from the ER to the Golgi and accelerated retrograde vesicular recycling from the Golgi to the ER, leading to a decrease in Golgi volume, as well as morphologic abnormalities with collapse of the Golgi stacks in affected fibroblasts; altered decorin/DCN Golgi-dependent glycosylation; no effect on protein expression. 1 PublicationCorresponds to variant dbSNP:rs1555575860Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi729R → A: Severe defects in glycosylation. 1 Publication1
Mutagenesisi764E → A: Severe defects in glycosylation. 1 Publication1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
25839

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

More...
GeneReviewsi
COG4

MalaCards human disease database

More...
MalaCardsi
COG4
MIMi613489 phenotype
618150 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000103051

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

More...
Orphaneti
263501 COG4-CDG
85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38603

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H9E3 Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4105733

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COG4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
311033464

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00002135042 – 785Conserved oligomeric Golgi complex subunit 4Add BLAST784

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei6PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H9E3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H9E3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9H9E3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H9E3

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

More...
PaxDbi
Q9H9E3

PeptideAtlas

More...
PeptideAtlasi
Q9H9E3

PRoteomics IDEntifications database

More...
PRIDEi
Q9H9E3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81316 [Q9H9E3-1]
81317 [Q9H9E3-2]
81318 [Q9H9E3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H9E3

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

More...
PhosphoSitePlusi
Q9H9E3

<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
ENSG00000103051 Expressed in right testis and 216 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H9E3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H9E3 HS

<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

Monomer.

Component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization (PubMed:19651599). Mediates interaction of SCFD1 with the COG complex (PubMed:19536132).

Interacts with STX5 (PubMed:19536132).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">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

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
117365, 41 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9H9E3

Database of interacting proteins

More...
DIPi
DIP-32635N

Protein interaction database and analysis system

More...
IntActi
Q9H9E3, 41 interactors

Molecular INTeraction database

More...
MINTi
Q9H9E3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000315775

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H9E3 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

Secondary structure

1785
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...
SMRi
Q9H9E3

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9H9E3

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2 – 84Interaction with SCFD11 PublicationAdd BLAST83
Regioni85 – 153Interaction with STX51 PublicationAdd BLAST69
Regioni618 – 740D domain1 PublicationAdd BLAST123
Regioni741 – 785E domain; essential for proper cell surface glycosylation1 PublicationAdd BLAST45

<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 COG4 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0412 Eukaryota
ENOG410XS60 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154065

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_014853_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H9E3

KEGG Orthology (KO)

More...
KOi
K20291

Database of Orthologous Groups

More...
OrthoDBi
376278at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H9E3

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013167 COG_su4

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08318 COG4, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00762 Cog4, 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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H9E3-1) [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
MADLDSPPKL SGVQQPSEGV GGGRCSEISA ELIRSLTELQ ELEAVYERLC
60 70 80 90 100
GEEKVVEREL DALLEQQNTI ESKMVTLHRM GPNLQLIEGD AKQLAGMITF
110 120 130 140 150
TCNLAENVSS KVRQLDLAKN RLYQAIQRAD DILDLKFCMD GVQTALRSED
160 170 180 190 200
YEQAAAHTHR YLCLDKSVIE LSRQGKEGSM IDANLKLLQE AEQRLKAIVA
210 220 230 240 250
EKFAIATKEG DLPQVERFFK IFPLLGLHEE GLRKFSEYLC KQVASKAEEN
260 270 280 290 300
LLMVLGTDMS DRRAAVIFAD TLTLLFEGIA RIVETHQPIV ETYYGPGRLY
310 320 330 340 350
TLIKYLQVEC DRQVEKVVDK FIKQRDYHQQ FRHVQNNLMR NSTTEKIEPR
360 370 380 390 400
ELDPILTEVT LMNARSELYL RFLKKRISSD FEVGDSMASE EVKQEHQKCL
410 420 430 440 450
DKLLNNCLLS CTMQELIGLY VTMEEYFMRE TVNKAVALDT YEKGQLTSSM
460 470 480 490 500
VDDVFYIVKK CIGRALSSSS IDCLCAMINL ATTELESDFR DVLCNKLRMG
510 520 530 540 550
FPATTFQDIQ RGVTSAVNIM HSSLQQGKFD TKGIESTDEA KMSFLVTLNN
560 570 580 590 600
VEVCSENIST LKKTLESDCT KLFSQGIGGE QAQAKFDSCL SDLAAVSNKF
610 620 630 640 650
RDLLQEGLTE LNSTAIKPQV QPWINSFFSV SHNIEEEEFN DYEANDPWVQ
660 670 680 690 700
QFILNLEQQM AEFKASLSPV IYDSLTGLMT SLVAVELEKV VLKSTFNRLG
710 720 730 740 750
GLQFDKELRS LIAYLTTVTT WTIRDKFARL SQMATILNLE RVTEILDYWG
760 770 780
PNSGPLTWRL TPAEVRQVLA LRIDFRSEDI KRLRL
Length:785
Mass (Da):89,083
Last modified:November 2, 2010 - v3
<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:i93E8597991934AD2
GO
Isoform 2 (identifier: Q9H9E3-2) [UniParc]FASTAAdd to basket
Also known as: Cog4S

The sequence of this isoform differs from the canonical sequence as follows:
     331-337: FRHVQNN → NFVFSFF
     338-785: 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:337
Mass (Da):38,245
Checksum:i3255EF1D38584CC9
GO
Isoform 3 (identifier: Q9H9E3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Show »
Length:712
Mass (Da):81,098
Checksum:iE6426B98B87E5226
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KNI1J3KNI1_HUMAN
Conserved oligomeric Golgi complex ...
COG4
789Annotation 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>
A0A0A0MS45A0A0A0MS45_HUMAN
Conserved oligomeric Golgi complex ...
COG4
768Annotation 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>
H3BMV9H3BMV9_HUMAN
Conserved oligomeric Golgi complex ...
COG4
193Annotation 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>
E9PRT5E9PRT5_HUMAN
Conserved oligomeric Golgi complex ...
COG4
100Annotation 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>
H3BSD2H3BSD2_HUMAN
Conserved oligomeric Golgi complex ...
COG4
130Annotation 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>
J3KRB5J3KRB5_HUMAN
Conserved oligomeric Golgi complex ...
COG4
157Annotation 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>
J3QLW1J3QLW1_HUMAN
Conserved oligomeric Golgi complex ...
COG4
72Annotation 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>
H3BQB2H3BQB2_HUMAN
Conserved oligomeric Golgi complex ...
COG4
143Annotation 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 BAB15483 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti177E → G in BAB14286 (PubMed:14702039).Curated1
Sequence conflicti234K → R in BAB14286 (PubMed:14702039).Curated1
Sequence conflicti285T → A in BAB14286 (PubMed:14702039).Curated1
Sequence conflicti486E → G in BAB15483 (PubMed:14702039).Curated1
Sequence conflicti588S → G in BAB14286 (PubMed:14702039).Curated1
Sequence conflicti588S → G in BAG59950 (PubMed:14702039).Curated1
Sequence conflicti644A → S in AAH06306 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058009158T → I3 PublicationsCorresponds to variant dbSNP:rs3931036Ensembl.1
Natural variantiVAR_081564512G → R in SWILS; delayed anterograde vesicular trafficking from the ER to the Golgi and accelerated retrograde vesicular recycling from the Golgi to the ER, leading to a decrease in Golgi volume, as well as morphologic abnormalities with collapse of the Golgi stacks in affected fibroblasts; altered decorin/DCN Golgi-dependent glycosylation; no effect on protein expression. 1 PublicationCorresponds to variant dbSNP:rs1555575860Ensembl.1
Natural variantiVAR_063767729R → W in CDG2J; severe defects in glycosylation. 2 Publications1

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_0375511 – 73Missing in isoform 3. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_001127331 – 337FRHVQNN → NFVFSFF in isoform 2. 1 Publication7
Alternative sequenceiVSP_001128338 – 785Missing in isoform 2. 1 PublicationAdd BLAST448

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
AB088369 mRNA Translation: BAC05682.1
AK022874 mRNA Translation: BAB14286.1
AK026435 mRNA Translation: BAB15483.1 Different initiation.
AK297557 mRNA Translation: BAG59950.1
AC106804 Genomic DNA No translation available.
BC000796 mRNA Translation: AAH00796.1
BC006306 mRNA Translation: AAH06306.2
BC013347 mRNA Translation: AAH13347.2
BC072438 mRNA Translation: AAH72438.1
AL050101 mRNA Translation: CAB43272.1

NCBI Reference Sequences

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RefSeqi
NP_001182068.1, NM_001195139.1
NP_056201.2, NM_015386.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000482252; ENSP00000432802; ENSG00000103051 [Q9H9E3-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
25839

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:25839

UCSC genome browser

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UCSCi
uc059wqe.1 human [Q9H9E3-1]

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
AB088369 mRNA Translation: BAC05682.1
AK022874 mRNA Translation: BAB14286.1
AK026435 mRNA Translation: BAB15483.1 Different initiation.
AK297557 mRNA Translation: BAG59950.1
AC106804 Genomic DNA No translation available.
BC000796 mRNA Translation: AAH00796.1
BC006306 mRNA Translation: AAH06306.2
BC013347 mRNA Translation: AAH13347.2
BC072438 mRNA Translation: AAH72438.1
AL050101 mRNA Translation: CAB43272.1
RefSeqiNP_001182068.1, NM_001195139.1
NP_056201.2, NM_015386.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3HR0X-ray1.90A/B525-785[»]
SMRiQ9H9E3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117365, 41 interactors
CORUMiQ9H9E3
DIPiDIP-32635N
IntActiQ9H9E3, 41 interactors
MINTiQ9H9E3
STRINGi9606.ENSP00000315775

Chemistry databases

ChEMBLiCHEMBL4105733

PTM databases

iPTMnetiQ9H9E3
PhosphoSitePlusiQ9H9E3

Polymorphism and mutation databases

BioMutaiCOG4
DMDMi311033464

Proteomic databases

EPDiQ9H9E3
jPOSTiQ9H9E3
MassIVEiQ9H9E3
MaxQBiQ9H9E3
PaxDbiQ9H9E3
PeptideAtlasiQ9H9E3
PRIDEiQ9H9E3
ProteomicsDBi81316 [Q9H9E3-1]
81317 [Q9H9E3-2]
81318 [Q9H9E3-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
25839

Genome annotation databases

EnsembliENST00000482252; ENSP00000432802; ENSG00000103051 [Q9H9E3-2]
GeneIDi25839
KEGGihsa:25839
UCSCiuc059wqe.1 human [Q9H9E3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
25839
DisGeNETi25839
EuPathDBiHostDB:ENSG00000103051.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COG4
GeneReviewsiCOG4
HGNCiHGNC:18620 COG4
MalaCardsiCOG4
MIMi606976 gene
613489 phenotype
618150 phenotype
neXtProtiNX_Q9H9E3
OpenTargetsiENSG00000103051
Orphaneti263501 COG4-CDG
85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type
PharmGKBiPA38603

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0412 Eukaryota
ENOG410XS60 LUCA
GeneTreeiENSGT00940000154065
HOGENOMiCLU_014853_0_0_1
InParanoidiQ9H9E3
KOiK20291
OrthoDBi376278at2759
PhylomeDBiQ9H9E3

Enzyme and pathway databases

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
25839 361 hits in 787 CRISPR screens

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

More...
ChiTaRSi
COG4 human
EvolutionaryTraceiQ9H9E3

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
COG4

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

More...
GenomeRNAii
25839
PharosiQ9H9E3 Tbio

Protein Ontology

More...
PROi
PR:Q9H9E3
RNActiQ9H9E3 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000103051 Expressed in right testis and 216 other tissues
ExpressionAtlasiQ9H9E3 baseline and differential
GenevisibleiQ9H9E3 HS

Family and domain databases

InterProiView protein in InterPro
IPR013167 COG_su4
PfamiView protein in Pfam
PF08318 COG4, 1 hit
SMARTiView protein in SMART
SM00762 Cog4, 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 nameiCOG4_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: Q9H9E3
Secondary accession number(s): B4DMN8
, C9JS23, Q96D40, Q9BRF0, Q9BVZ2, Q9H5Y4, Q9Y3W3
<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: November 2, 2010
Last modified: June 17, 2020
This is version 164 of the entry and version 3 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

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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