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UniProtKB - Q8N5M9 (JAGN1_HUMAN)

Entry version 124 (17 Jun 2020)
Sequence version 1 (01 Oct 2002)
Previous versions | rss
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Protein

Protein jagunal homolog 1

Gene

JAGN1

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

Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils.Curated1 Publication

Caution

Experiments in mouse confirm the importance of JAGN1 in neutrophil function with some differences. Mice lacking JAGN1 do not show neutropenia and display increased susceptibility to fungal infections due to defective killing capacity of neutrophil granulocytes.Curated1 Publication
Variant SCNN 'Gln-20' is described as 'Glu-20' (PubMed:25129144). However, based on the substitution described in the paper, it is clearly a 'Gln-20' variant.1 Publication

<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

Complete GO annotation on QuickGO ...

<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 processImmunity, Protein transport, Transport

<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:
Protein jagunal homolog 1Curated
<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:JAGN1Imported
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000171135.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:26926 JAGN1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		616012 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8N5M9

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 39CytoplasmicSequence analysisAdd BLAST39
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei40 – 60HelicalSequence analysisAdd BLAST21
Topological domaini61 – 71LumenalSequence analysisAdd BLAST11
Transmembranei72 – 92HelicalSequence analysisAdd BLAST21
Topological domaini93 – 96CytoplasmicSequence analysis4
Transmembranei97 – 117HelicalSequence analysisAdd BLAST21
Topological domaini118 – 137LumenalSequence analysisAdd BLAST20
Transmembranei138 – 158HelicalSequence analysisAdd BLAST21
Topological domaini159 – 183CytoplasmicSequence analysisAdd BLAST25

Keywords - Cellular componenti

Endoplasmic reticulum, 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

Neutropenia, severe congenital 6, autosomal recessive (SCN6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.
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_07179514G → S in SCN6. 1 PublicationCorresponds to variant dbSNP:rs786205704EnsemblClinVar.1
Natural variantiVAR_07179620R → Q in SCN6. 1 PublicationCorresponds to variant dbSNP:rs777966677EnsemblClinVar.1
Natural variantiVAR_07179721E → D in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777729EnsemblClinVar.1
Natural variantiVAR_07179844H → Y in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777728EnsemblClinVar.1
Natural variantiVAR_071799162Q → R in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777730EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		84522

MalaCards human disease database

More...MalaCardsi		JAGN1
MIMi616022 phenotype

Open Targets

More...OpenTargetsi		ENSG00000171135

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

More...Orphaneti		423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134954931

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8N5M9 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		JAGN1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74729022

<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_00003136081 – 183Protein jagunal homolog 1Add BLAST183

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 residuei3PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8N5M9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8N5M9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8N5M9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8N5M9

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

More...PaxDbi		Q8N5M9

PeptideAtlas

More...PeptideAtlasi		Q8N5M9

PRoteomics IDEntifications database

More...PRIDEi		Q8N5M9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		72076

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q8N5M9

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8N5M9

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

More...PhosphoSitePlusi		Q8N5M9

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000171135 Expressed in prostate gland and 198 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8N5M9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8N5M9 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000171135 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

Interacts with COPA, COPB2 and COPG2.

1 Publication

<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

Q8N5M9
With#Exp.IntAct
AGPAT4 [Q9NRZ5]3EBI-10266796,EBI-1754287
AQP6 [Q13520]3EBI-10266796,EBI-13059134
ARL13B [Q3SXY8]3EBI-10266796,EBI-11343438
BCL2L13 [Q9BXK5]3EBI-10266796,EBI-747430
BET1 [O15155]3EBI-10266796,EBI-749204
BMP10 [O95393]3EBI-10266796,EBI-3922513
BNIP1 [Q12981]3EBI-10266796,EBI-4402847
BNIP3 [Q12983]3EBI-10266796,EBI-749464
BSND [Q8WZ55]3EBI-10266796,EBI-7996695
BTNL9 - isoform 3 [Q6UXG8-3]3EBI-10266796,EBI-17953245
C4orf3 - isoform 2 [Q8WVX3-2]3EBI-10266796,EBI-12003442
CALHM6 [Q5R3K3]3EBI-10266796,EBI-19051471
CCDC155 [Q8N6L0]6EBI-10266796,EBI-749265
CCL4L2 [Q8NHW4]3EBI-10266796,EBI-10271156
CD79A [P11912]3EBI-10266796,EBI-7797864
CDIPT [O14735]3EBI-10266796,EBI-358858
CERS4 [Q9HA82]3EBI-10266796,EBI-2622997
CGRRF1 [Q99675]3EBI-10266796,EBI-2130213
CLDN7 [O95471]3EBI-10266796,EBI-740744
CLEC12B - isoform 2 [Q2HXU8-2]3EBI-10266796,EBI-12811991
CLEC4D [Q8WXI8]3EBI-10266796,EBI-12703404
CLEC7A [Q9BXN2]3EBI-10266796,EBI-3939278
CMTM5 - isoform 2 [Q96DZ9-2]3EBI-10266796,EBI-11522780
COX20 [Q5RI15]3EBI-10266796,EBI-2834035
CREB3L1 [Q96BA8]3EBI-10266796,EBI-6942903
CYBC1 [Q9BQA9]3EBI-10266796,EBI-2680384
CYP4F2 [P78329]3EBI-10266796,EBI-1752413
DNAJC30 [Q96LL9]3EBI-10266796,EBI-8639143
EBP [Q15125]3EBI-10266796,EBI-3915253
EDA2R [Q9HAV5]3EBI-10266796,EBI-526033
EHHADH [Q08426]3EBI-10266796,EBI-2339219
ELOVL4 [Q9GZR5]3EBI-10266796,EBI-18535450
ERG28 [Q9UKR5]3EBI-10266796,EBI-711490
ERGIC3 [Q9Y282]3EBI-10266796,EBI-781551
F11R [Q9Y624]3EBI-10266796,EBI-742600
FAM177A1 - isoform 2 [Q8N128-2]3EBI-10266796,EBI-12201693
FAM209A [Q5JX71]3EBI-10266796,EBI-18304435
FCGR1A [P12314]3EBI-10266796,EBI-2869867
FCRL2 - isoform 2 [Q96LA5-2]3EBI-10266796,EBI-17263163
FCRL4 [Q96PJ5]3EBI-10266796,EBI-4314687
FDFT1 [P37268]3EBI-10266796,EBI-714550
FIS1 [Q9Y3D6]3EBI-10266796,EBI-3385283
FKBP8 [Q14318]3EBI-10266796,EBI-724839
FNDC9 [Q8TBE3]3EBI-10266796,EBI-12142257
FRMD3 [A2A2Y4]3EBI-10266796,EBI-6911547
FXYD6 [Q9H0Q3]3EBI-10266796,EBI-713304
GIMAP1 [Q8WWP7]3EBI-10266796,EBI-11991950
GIMAP5 [Q96F15]3EBI-10266796,EBI-6166686
GJB5 [O95377]3EBI-10266796,EBI-3909454
GOLM1 [Q8NBJ4]3EBI-10266796,EBI-712073
GOSR2 [O14653]3EBI-10266796,EBI-4401517
GP2 - isoform 2 [P55259-4]3EBI-10266796,EBI-17746146
GPR152 [Q8TDT2]3EBI-10266796,EBI-13345167
GPR37L1 [O60883]3EBI-10266796,EBI-2927498
HMOX1 [P09601]3EBI-10266796,EBI-2806151
HSD17B13 [Q7Z5P4]3EBI-10266796,EBI-18053395
HTATIP2 - isoform 3 [Q9BUP3-3]3EBI-10266796,EBI-12937691
ICMT [O60725]3EBI-10266796,EBI-11721771
IER3IP1 [Q9Y5U9]3EBI-10266796,EBI-725665
IFNGR2 [P38484]3EBI-10266796,EBI-3905457
IL3RA [P26951]3EBI-10266796,EBI-1757512
KCNA1 [Q09470]5EBI-10266796,EBI-8286599
KIR2DL3 [P43628]3EBI-10266796,EBI-8632435
KIR3DL3 [Q8N743]3EBI-10266796,EBI-17272405
LEMD1 [Q68G75]3EBI-10266796,EBI-12268900
LHFPL5 [Q8TAF8]3EBI-10266796,EBI-2820517
LPAR3 [Q9UBY5]3EBI-10266796,EBI-12033434
MFF - isoform 5 [Q9GZY8-5]3EBI-10266796,EBI-11956541
MRM3 [Q9HC36]3EBI-10266796,EBI-1045440
MTIF3 [Q9H2K0]3EBI-10266796,EBI-3923617
NINJ2 [Q9NZG7]3EBI-10266796,EBI-10317425
NRG1 - isoform 10 [Q02297-10]3EBI-10266796,EBI-12842334
OTULINL [Q9NUU6]3EBI-10266796,EBI-6916492
PDZK1IP1 [Q13113]3EBI-10266796,EBI-716063
PLP1 - isoform DM-20 [P60201-2]3EBI-10266796,EBI-12188331
PLPP2 [O43688]3EBI-10266796,EBI-722017
RETREG3 [Q86VR2]3EBI-10266796,EBI-10192441
RTP2 [Q5QGT7]3EBI-10266796,EBI-10244780
SACM1L [Q9NTJ5]3EBI-10266796,EBI-3917235
SAR1A [Q9NR31]3EBI-10266796,EBI-3920694
SCD [O00767]3EBI-10266796,EBI-2684237
SEC22B [O75396]3EBI-10266796,EBI-1058865
SERP1 [Q9Y6X1]3EBI-10266796,EBI-10329948
SLAMF6 [Q96DU3]3EBI-10266796,EBI-14058448
SLC34A2 - isoform 2 [O95436-2]3EBI-10266796,EBI-12811757
SMAGP [Q0VAQ4]3EBI-10266796,EBI-10226799
SMIM1 [B2RUZ4]3EBI-10266796,EBI-12188413
SMIM19 [Q96E16]3EBI-10266796,EBI-17657124
STOML3 [Q8TAV4]3EBI-10266796,EBI-12900395
STX1A [Q16623]3EBI-10266796,EBI-712466
STX3 [Q13277]3EBI-10266796,EBI-1394295
STX5 [Q13190]3EBI-10266796,EBI-714206
STX7 [O15400]3EBI-10266796,EBI-3221827
STX8 [Q9UNK0]3EBI-10266796,EBI-727240
TECR [Q9NZ01]3EBI-10266796,EBI-2877718
TIMM23 [O14925]3EBI-10266796,EBI-1047996
TMEM100 [Q9NV29]3EBI-10266796,EBI-8644968
TMEM106C [Q9BVX2]3EBI-10266796,EBI-2821497
TMEM120B [A0PK00]3EBI-10266796,EBI-10171534
TMEM128 - isoform 2 [Q5BJH2-2]3EBI-10266796,EBI-10694905
TMEM14B [Q9NUH8]3EBI-10266796,EBI-8638294
TMEM199 [Q8N511]3EBI-10266796,EBI-10265825
TMEM207 [Q6UWW9]3EBI-10266796,EBI-13301303
TMEM237 - isoform 2 [Q96Q45-2]3EBI-10266796,EBI-10982110
TMEM242 [Q9NWH2]3EBI-10266796,EBI-10315004
TMEM243 [Q9BU79]3EBI-10266796,EBI-12887458
TMEM52B [Q4KMG9]3EBI-10266796,EBI-18178701
TMEM65 [Q6PI78]3EBI-10266796,EBI-6656213
TNFSF14 [O43557]3EBI-10266796,EBI-524131
TREX1 - isoform 1 [Q9NSU2-1]3EBI-10266796,EBI-16746122
TSNARE1 [A0AVG3]3EBI-10266796,EBI-12003468
UBE2J1 [Q9Y385]3EBI-10266796,EBI-988826
USE1 [Q9NZ43]3EBI-10266796,EBI-742842
VAMP2 [P63027]3EBI-10266796,EBI-520113
VAMP5 [O95183]3EBI-10266796,EBI-10191195
VAPA [Q9P0L0]3EBI-10266796,EBI-1059156
VAPB [O95292]3EBI-10266796,EBI-1188298
VSIG4 [Q9Y279]3EBI-10266796,EBI-903131
VTI1B [Q9UEU0]3EBI-10266796,EBI-723716

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124115, 17 interactors

Protein interaction database and analysis system

More...IntActi		Q8N5M9, 124 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000306106

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8N5M9 protein

<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 jagunal family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4054 Eukaryota
ENOG4111GU8 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005596

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_121621_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8N5M9

Identification of Orthologs from Complete Genome Data

More...OMAi		KAWKART

Database of Orthologous Groups

More...OrthoDBi		1452436at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8N5M9

TreeFam database of animal gene trees

More...TreeFami		TF313137

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009787 Jagunal

The PANTHER Classification System

More...PANTHERi		PTHR20955 PTHR20955, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07086 Jagunal, 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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q8N5M9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MASRAGPRAA GTDGSDFQHR ERVAMHYQMS VTLKYEIKKL IYVHLVIWLL 
        60         70         80         90        100
LVAKMSVGHL RLLSHDQVAM PYQWEYPYLL SILPSLLGLL SFPRNNISYL 
       110        120        130        140        150
VLSMISMGLF SIAPLIYGSM EMFPAAQQLY RHGKAYRFLF GFSAVSIMYL 
       160        170        180 
VLVLAVQVHA WQLYYSKKLL DSWFTSTQEK KHK
Length:183
Mass (Da):21,125
Last modified:October 1, 2002 - v1
<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:i5F203B99E670D7A7
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ITE9A0A3B3ITE9_HUMAN
Protein jagunal homolog 1
JAGN1
50Annotation 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>

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 conflicti9A → T in BAC11188 (PubMed:14702039).Curated1
Sequence conflicti58G → E in BAB55163 (PubMed:14702039).Curated1
Sequence conflicti61R → G in BAB55163 (PubMed:14702039).Curated1
Sequence conflicti149Y → H in BAB55163 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07179514G → S in SCN6. 1 PublicationCorresponds to variant dbSNP:rs786205704EnsemblClinVar.1
Natural variantiVAR_07179620R → Q in SCN6. 1 PublicationCorresponds to variant dbSNP:rs777966677EnsemblClinVar.1
Natural variantiVAR_07179721E → D in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777729EnsemblClinVar.1
Natural variantiVAR_07179844H → Y in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777728EnsemblClinVar.1
Natural variantiVAR_071799162Q → R in SCN6. 1 PublicationCorresponds to variant dbSNP:rs587777730EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK027508 mRNA Translation: BAB55163.1
AK074760 mRNA Translation: BAC11188.1
CH471055 Genomic DNA Translation: EAW64015.1
BC032101 mRNA Translation: AAH32101.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2588.1

NCBI Reference Sequences

More...RefSeqi		NP_115881.3, NM_032492.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000647897; ENSP00000496942; ENSG00000171135

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84522

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84522

UCSC genome browser

More...UCSCi		uc003btt.5 human

<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
AK027508 mRNA Translation: BAB55163.1
AK074760 mRNA Translation: BAC11188.1
CH471055 Genomic DNA Translation: EAW64015.1
BC032101 mRNA Translation: AAH32101.1
CCDSiCCDS2588.1
RefSeqiNP_115881.3, NM_032492.3

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi124115, 17 interactors
IntActiQ8N5M9, 124 interactors
STRINGi9606.ENSP00000306106

PTM databases

iPTMnetiQ8N5M9
PhosphoSitePlusiQ8N5M9

Polymorphism and mutation databases

BioMutaiJAGN1
DMDMi74729022

Proteomic databases

EPDiQ8N5M9
jPOSTiQ8N5M9
MassIVEiQ8N5M9
MaxQBiQ8N5M9
PaxDbiQ8N5M9
PeptideAtlasiQ8N5M9
PRIDEiQ8N5M9
ProteomicsDBi72076
TopDownProteomicsiQ8N5M9

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		59146 61 antibodies

The DNASU plasmid repository

More...DNASUi		84522

Genome annotation databases

EnsembliENST00000647897; ENSP00000496942; ENSG00000171135
GeneIDi84522
KEGGihsa:84522
UCSCiuc003btt.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84522
DisGeNETi84522
EuPathDBiHostDB:ENSG00000171135.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		JAGN1
HGNCiHGNC:26926 JAGN1
HPAiENSG00000171135 Low tissue specificity
MalaCardsiJAGN1
MIMi616012 gene
616022 phenotype
neXtProtiNX_Q8N5M9
OpenTargetsiENSG00000171135
Orphaneti423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
PharmGKBiPA134954931

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4054 Eukaryota
ENOG4111GU8 LUCA
GeneTreeiENSGT00390000005596
HOGENOMiCLU_121621_0_0_1
InParanoidiQ8N5M9
OMAiKAWKART
OrthoDBi1452436at2759
PhylomeDBiQ8N5M9
TreeFamiTF313137

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		84522 4 hits in 786 CRISPR screens

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

More...GenomeRNAii		84522
PharosiQ8N5M9 Tbio

Protein Ontology

More...PROi		PR:Q8N5M9
RNActiQ8N5M9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000171135 Expressed in prostate gland and 198 other tissues
ExpressionAtlasiQ8N5M9 baseline and differential
GenevisibleiQ8N5M9 HS

Family and domain databases

InterProiView protein in InterPro
IPR009787 Jagunal
PANTHERiPTHR20955 PTHR20955, 1 hit
PfamiView protein in Pfam
PF07086 Jagunal, 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 nameiJAGN1_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: Q8N5M9
Secondary accession number(s): Q8NCF6, Q96SW1
<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: January 15, 2008
Last sequence update: October 1, 2002
Last modified: June 17, 2020
This is version 124 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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