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UniProtKB - Q8WXH2 (JPH3_HUMAN)

Entry version 170 (10 Feb 2021)
Sequence version 2 (17 Jan 2003)
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Protein

Junctophilin-3

Gene

JPH3

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

Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory.

<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 ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8WXH2

<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:
Junctophilin-3
Short name:
JP-3
Alternative name(s):
Junctophilin type 3
Trinucleotide repeat-containing gene 22 protein
<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:JPH3
Synonyms:JP3, TNRC22
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:14203, JPH3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605268, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WXH2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000154118.12

<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 – 727CytoplasmicSequence analysisAdd BLAST727
<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>Transmembranei728 – 748Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST21

<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>Keywords - Cellular componenti

Cell membrane, 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

Huntington disease-like 2 (HDL2)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionHuntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		57338

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

More...GeneReviewsi		JPH3

MalaCards human disease database

More...MalaCardsi		JPH3
MIMi606438, phenotype

Open Targets

More...OpenTargetsi		ENSG00000154118

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

More...Orphaneti		98934, Huntington disease-like 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30000

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8WXH2, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		JPH3

Domain mapping of disease mutations (DMDM)

More...DMDMi		27805485

<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_00001598501 – 748Junctophilin-3Add BLAST748

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 residuei440PhosphoserineBy similarity1
Modified residuei451PhosphothreonineBy similarity1
Modified residuei457PhosphoserineBy similarity1
Modified residuei471PhosphothreonineBy similarity1
Modified residuei475PhosphoserineBy similarity1
Modified residuei506PhosphoserineBy similarity1
Modified residuei703PhosphoserineBy similarity1
Modified residuei710PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8WXH2

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

More...PaxDbi		Q8WXH2

PeptideAtlas

More...PeptideAtlasi		Q8WXH2

PRoteomics IDEntifications database

More...PRIDEi		Q8WXH2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75053 [Q8WXH2-1]
75054 [Q8WXH2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WXH2

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

More...PhosphoSitePlusi		Q8WXH2

<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

Specifically expressed in brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000154118, Expressed in dorsolateral prefrontal cortex and 119 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WXH2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000154118, Tissue enriched (brain)

<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 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

Q8WXH2
With#Exp.IntAct
ABI2 - isoform 2 [Q9NYB9-2]3EBI-1055254,EBI-11096309
ABLIM2 - isoform 8 [Q6H8Q1-8]3EBI-1055254,EBI-16436655
AK3 [Q9UIJ7]3EBI-1055254,EBI-3916527
ALDH1A1 [P00352]3EBI-1055254,EBI-752170
ANKRD12 [Q6PG48]3EBI-1055254,EBI-12304341
ANKRD13D - isoform 2 [Q6ZTN6-2]3EBI-1055254,EBI-25840993
AP2B1 - isoform 2 [P63010-2]3EBI-1055254,EBI-11529439
ASB3 - isoform 3 [Q9Y575-3]3EBI-1055254,EBI-14199987
ASB9 [Q96DX5]3EBI-1055254,EBI-745641
ASB9 - isoform 3 [Q96DX5-3]3EBI-1055254,EBI-25843552
ATL1 [Q8WXF7]3EBI-1055254,EBI-2410266
ATP6V1B2 [P21281]3EBI-1055254,EBI-4290814
BAIAP2 - isoform 6 [Q9UQB8-6]3EBI-1055254,EBI-9092016
BAK1 [Q16611]3EBI-1055254,EBI-519866
BCAS2 [O75934]3EBI-1055254,EBI-1050106
BGN [P21810]3EBI-1055254,EBI-762076
BIRC2 [Q13490]3EBI-1055254,EBI-514538
BRK1 [Q8WUW1]3EBI-1055254,EBI-2837444
BTRC [Q9Y297]3EBI-1055254,EBI-307461
C20orf141 [Q9NUB4]3EBI-1055254,EBI-9088162
C6orf141 [Q5SZD1]3EBI-1055254,EBI-10697767
CALM3 [P62158]3EBI-1055254,EBI-397435
CCDC196 [A0A1B0GWI1]3EBI-1055254,EBI-10181422
CCDC26 [Q8TAB7]3EBI-1055254,EBI-10271580
CCL21 [O00585]3EBI-1055254,EBI-953695
CD1C [P29017]3EBI-1055254,EBI-2836704
CDC23 [Q9UJX2]3EBI-1055254,EBI-396137
CENPV [Q7Z7K6]3EBI-1055254,EBI-1210604
CKMT1B [P12532]3EBI-1055254,EBI-1050662
CLPP [Q16740]3EBI-1055254,EBI-1056029
CRELD1 - isoform 2 [Q96HD1-2]3EBI-1055254,EBI-21536433
CRLF3 [Q8IUI8]3EBI-1055254,EBI-2872414
CTNNB1 [P35222]3EBI-1055254,EBI-491549
CWF19L2 [Q2TBE0]3EBI-1055254,EBI-5453285
CYP26B1 [Q9NR63]3EBI-1055254,EBI-25928065
DCAF8 - isoform 2 [Q5TAQ9-2]3EBI-1055254,EBI-25842815
DDIT3 [P35638]3EBI-1055254,EBI-742651
DES [P17661]3EBI-1055254,EBI-1055572
DKFZP586N0721 [Q6I9W9]3EBI-1055254,EBI-25927172
DNAJA3 - isoform 3 [Q96EY1-3]3EBI-1055254,EBI-11526226
DRG2 [P55039]3EBI-1055254,EBI-750565
DUSP18 [Q8NEJ0]3EBI-1055254,EBI-10698945
DVL3 [Q92997]3EBI-1055254,EBI-739789
EED - isoform 2 [O75530-2]3EBI-1055254,EBI-11132357
EGFL8 [Q99944]3EBI-1055254,EBI-3924130
EIF3F [O00303]3EBI-1055254,EBI-711990
ELAPOR1 - isoform 3 [Q6UXG2-3]3EBI-1055254,EBI-12920100
EPHB2 - isoform 3 [P29323-3]3EBI-1055254,EBI-25838727
ERCC8 - isoform 2 [Q13216-2]3EBI-1055254,EBI-16466949
ESS2 [Q96DF8]3EBI-1055254,EBI-3928124
ETFRF1 [Q6IPR1]3EBI-1055254,EBI-12292149
EXTL2 [Q9UBQ6]3EBI-1055254,EBI-21506125
FANCG [O15287]3EBI-1055254,EBI-81610
FASTKD1 [Q53R41]3EBI-1055254,EBI-3957005
FBXO15 [Q8NCQ5]3EBI-1055254,EBI-6660598
FYN - isoform 3 [P06241-3]3EBI-1055254,EBI-10691738
GFAP [P14136]3EBI-1055254,EBI-744302
GGA1 - isoform 4 [Q9UJY5-4]3EBI-1055254,EBI-12108696
GJA5 [P36382]3EBI-1055254,EBI-750433
GMCL2 [Q8NEA9]3EBI-1055254,EBI-745707
GRB10 - isoform 4 [Q13322-4]3EBI-1055254,EBI-12353035
H3C15 [Q71DI3]3EBI-1055254,EBI-750650
hCG_1820408 [Q8N7T0]3EBI-1055254,EBI-25858908
HNRNPK [P61978]3EBI-1055254,EBI-304185
HNRNPU - isoform 2 [Q00839-2]3EBI-1055254,EBI-351143
HSFY2 [Q96LI6]3EBI-1055254,EBI-3957665
ICA1L - isoform 2 [Q8NDH6-2]3EBI-1055254,EBI-12141931
IKBKB - isoform 3 [O14920-3]3EBI-1055254,EBI-25847993
IL22RA1 [Q8N6P7]3EBI-1055254,EBI-3940749
IQUB [Q8NA54]3EBI-1055254,EBI-10220600
ITCH - isoform 2 [Q96J02-2]3EBI-1055254,EBI-6672198
KIAA0408 [Q6ZU52]3EBI-1055254,EBI-739493
KIAA1217 - isoform 6 [Q5T5P2-6]3EBI-1055254,EBI-10188326
KRT19 [P08727]3EBI-1055254,EBI-742756
KRTAP10-8 [P60410]3EBI-1055254,EBI-10171774
LENG8 [Q96PV6]3EBI-1055254,EBI-739546
LGALS9C [Q6DKI2]3EBI-1055254,EBI-9088829
LIX1 [Q8N485]3EBI-1055254,EBI-10694501
LNX1 [Q8TBB1]3EBI-1055254,EBI-739832
LONRF2 [Q1L5Z9]3EBI-1055254,EBI-2510853
LPIN1 [Q14693]3EBI-1055254,EBI-5278370
LSM14B - isoform 2 [Q9BX40-2]3EBI-1055254,EBI-19133880
LZIC [Q8WZA0]3EBI-1055254,EBI-5774346
MAGEB3 [O15480]3EBI-1055254,EBI-21634885
MARCHF10 [Q8NA82]3EBI-1055254,EBI-2341554
MICAL2 [O94851]3EBI-1055254,EBI-2804835
MKL1 [A4FUJ8]3EBI-1055254,EBI-21250407
MLC1 [Q15049]3EBI-1055254,EBI-8475277
MPND [Q8N594]3EBI-1055254,EBI-2512452
MRPL49 [Q13405]3EBI-1055254,EBI-5325200
MSRB2 [Q9Y3D2]3EBI-1055254,EBI-9092052
MTF2 - isoform 4 [Q9Y483-4]3EBI-1055254,EBI-10698053
MYBPHL [A2RUH7]3EBI-1055254,EBI-9088235
MYLPF [Q96A32]3EBI-1055254,EBI-1390771
MYNN [Q9NPC7]3EBI-1055254,EBI-3446748
NAP1L3 [Q99457]3EBI-1055254,EBI-8645631
NCOA4 - isoform 3 [Q13772-3]3EBI-1055254,EBI-12054609
NDUFS7 [O75251]3EBI-1055254,EBI-719652
NME5 [P56597]3EBI-1055254,EBI-740667
NOL6 [Q9H6R4]3EBI-1055254,EBI-2514288
NSMF - isoform 6 [Q6X4W1-6]3EBI-1055254,EBI-25842707
NYX [Q9GZU5]3EBI-1055254,EBI-12744849
ODF3L2 [Q3SX64]3EBI-1055254,EBI-6660184
OTUB1 [Q96FW1]3EBI-1055254,EBI-1058491
OTUD7B - isoform 2 [Q6GQQ9-2]3EBI-1055254,EBI-25830200
OTX1 [P32242]3EBI-1055254,EBI-740446
PABPC3 [Q9H361]3EBI-1055254,EBI-1055272
PACRGL - isoform 2 [Q8N7B6-2]3EBI-1055254,EBI-10694433
PARP11 - isoform 4 [Q9NR21-5]3EBI-1055254,EBI-17159452
PATZ1 - isoform 4 [Q9HBE1-4]3EBI-1055254,EBI-11022007
PBX3 [Q96AL5]3EBI-1055254,EBI-741171
PCMTD2 [Q9NV79]3EBI-1055254,EBI-6309018
PCSK7 [Q16549]3EBI-1055254,EBI-8059854
PDLIM5 [Q96HC4]3EBI-1055254,EBI-751267
PDPK1 - isoform 4 [O15530-4]3EBI-1055254,EBI-9087775
PER1 [O15534]3EBI-1055254,EBI-2557276
PERP [Q96FX8]3EBI-1055254,EBI-17183069
PHOSPHO2 [Q8TCD6]3EBI-1055254,EBI-2861380
PIWIL1 [Q96J94]3EBI-1055254,EBI-527417
PLB1 - isoform 2 [Q6P1J6-2]3EBI-1055254,EBI-10694821
PMP22 [Q01453]3EBI-1055254,EBI-2845982
PNO1 [Q9NRX1]3EBI-1055254,EBI-712787
PPARA [Q07869]3EBI-1055254,EBI-78615
PPP1R16A [Q96I34]3EBI-1055254,EBI-710402
PPP1R21 - isoform 5 [Q6ZMI0-5]3EBI-1055254,EBI-25835994
PSME1 [Q06323]3EBI-1055254,EBI-712149
PTGR1 [Q14914]3EBI-1055254,EBI-2876800
RAB35 [Q15286]3EBI-1055254,EBI-722275
RAB38 [P57729]3EBI-1055254,EBI-6552718
RAB3IP - isoform 7 [Q96QF0-7]3EBI-1055254,EBI-11984839
RASSF1 - isoform C [Q9NS23-4]6EBI-1055254,EBI-438710
RASSF2 [P50749]3EBI-1055254,EBI-960081
RASSF5 - isoform 2 [Q8WWW0-2]3EBI-1055254,EBI-960502
RASSF8 - isoform 2 [Q8NHQ8-2]3EBI-1055254,EBI-10976415
RBM11 [P57052]3EBI-1055254,EBI-741332
RBM45 - isoform 3 [Q8IUH3-3]3EBI-1055254,EBI-10964453
RCHY1 - isoform 4 [Q96PM5-4]3EBI-1055254,EBI-21252376
RHOBTB3 [O94955]3EBI-1055254,EBI-2367123
RNF138 [Q8WVD3]3EBI-1055254,EBI-749039
RPS5 [P46782]3EBI-1055254,EBI-350569
SAMD3 - isoform 2 [Q8N6K7-2]3EBI-1055254,EBI-11528848
SCYL3 - isoform 2 [Q8IZE3-2]3EBI-1055254,EBI-11959369
SEM1 [P60896]3EBI-1055254,EBI-79819
SF3A3 [Q12874]3EBI-1055254,EBI-1051880
SFRP4 [Q6FHJ7]3EBI-1055254,EBI-2854879
SLC44A5 [Q8NCS7]3EBI-1055254,EBI-21504521
SLU7 [O95391]3EBI-1055254,EBI-750559
SMAD3 [P84022]3EBI-1055254,EBI-347161
SMARCB1 [Q12824]3EBI-1055254,EBI-358419
SMARCD1 [Q96GM5]3EBI-1055254,EBI-358489
SNW1 [Q13573]3EBI-1055254,EBI-632715
SOCS4 [Q8WXH5]3EBI-1055254,EBI-3942425
SPATA22 [Q8NHS9]3EBI-1055254,EBI-7067260
SPATA2L [Q8IUW3]3EBI-1055254,EBI-2510414
SPRED1 [Q7Z699]3EBI-1055254,EBI-5235340
SRSF4 [Q08170]3EBI-1055254,EBI-722621
SS18L1 - isoform 5 [O75177-5]3EBI-1055254,EBI-12035119
STAMBP [O95630]3EBI-1055254,EBI-396676
STK3 [Q13188]3EBI-1055254,EBI-992580
SULT4A1 - isoform 2 [Q9BR01-2]3EBI-1055254,EBI-25831443
TAC3 [Q9UHF0]3EBI-1055254,EBI-717325
TASOR2 [Q5VWN6]3EBI-1055254,EBI-745958
TCAP [O15273]3EBI-1055254,EBI-954089
TCN1 [P20061]3EBI-1055254,EBI-2557232
THAP4 [Q9BQ29]3EBI-1055254,EBI-22013570
TMC6 [Q7Z403]3EBI-1055254,EBI-9088037
TMED10 [P49755]3EBI-1055254,EBI-998422
TMEM135 [Q8N605]3EBI-1055254,EBI-25928249
TMEM141 [Q96I45]3EBI-1055254,EBI-17681263
TMEM186 [Q96B77]3EBI-1055254,EBI-9089409
TMUB1 [Q9BVT8]3EBI-1055254,EBI-11425701
TMUB2 - isoform 4 [Q71RG4-4]3EBI-1055254,EBI-25831574
TNFAIP1 [Q13829]3EBI-1055254,EBI-2505861
TRAIP [Q9BWF2]3EBI-1055254,EBI-1756205
TREX1 - isoform 1 [Q9NSU2-1]3EBI-1055254,EBI-16746122
TTC19 [Q6DKK2]3EBI-1055254,EBI-948354
TUT7 - isoform 5 [Q5VYS8-5]3EBI-1055254,EBI-9088812
TXN [P10599]3EBI-1055254,EBI-594644
UBE2I [Q7KZS0]3EBI-1055254,EBI-10180829
UBQLNL [Q8IYU4]3EBI-1055254,EBI-12295223
USP10 [Q14694]3EBI-1055254,EBI-2510389
USP16 - isoform 2 [Q9Y5T5-2]3EBI-1055254,EBI-16813369
USP2 - isoform 3 [O75604-3]3EBI-1055254,EBI-10696113
UTP14A [Q9BVJ6]3EBI-1055254,EBI-473284
VHL - isoform 2 [P40337-2]3EBI-1055254,EBI-12157263
VPS37A [Q8NEZ2]3EBI-1055254,EBI-2850578
VSX2 [P58304]3EBI-1055254,EBI-6427899
WDR61 [Q9GZS3]3EBI-1055254,EBI-358545
WDR83 [Q9BRX9]3EBI-1055254,EBI-7705033
WWOX - isoform 5 [Q9NZC7-5]3EBI-1055254,EBI-12040603
WWP2 [O00308]3EBI-1055254,EBI-743923
YIPF1 [Q9Y548]3EBI-1055254,EBI-7850136
ZBTB25 [P24278]3EBI-1055254,EBI-739899
ZC2HC1C - isoform 2 [Q53FD0-2]3EBI-1055254,EBI-14104088
ZFP36 [P26651]3EBI-1055254,EBI-374248
ZKSCAN3 [Q9BRR0]3EBI-1055254,EBI-1965777
ZNF19 [P17023]3EBI-1055254,EBI-12884200
ZNF20 [P17024]3EBI-1055254,EBI-717634
ZNF232 [Q9UNY5]3EBI-1055254,EBI-749023
ZNF302 - isoform 2 [Q9NR11-2]3EBI-1055254,EBI-12988373
ZNF436 [Q9C0F3]3EBI-1055254,EBI-8489702
ZNF500 [O60304]3EBI-1055254,EBI-18234077
ZNF581 [Q9P0T4]3EBI-1055254,EBI-745520
ZNF774 [Q6NX45]3EBI-1055254,EBI-10251462
ZSCAN9 [O15535]3EBI-1055254,EBI-751531
Q86V283EBI-1055254,EBI-10259496
Q96E883EBI-1055254,EBI-10976904

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121492, 8 interactors

Protein interaction database and analysis system

More...IntActi		Q8WXH2, 210 interactors

Molecular INTeraction database

More...MINTi		Q8WXH2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000284262

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8WXH2, 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		Q8WXH2

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati15 – 37MORN 1Add BLAST23
Repeati39 – 60MORN 2Add BLAST22
Repeati61 – 82MORN 3Add BLAST22
Repeati83 – 105MORN 4Add BLAST23
Repeati107 – 129MORN 5Add BLAST23
Repeati130 – 152MORN 6Add BLAST23
Repeati288 – 310MORN 7Add BLAST23
Repeati311 – 333MORN 8Add BLAST23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi4 – 143Gly-richAdd BLAST140
Compositional biasi366 – 416Ala-richAdd BLAST51

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids.By similarity

<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 junctophilin family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0231, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158707

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_008078_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WXH2

Identification of Orthologs from Complete Genome Data

More...OMAi		GRKQPGN

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WXH2

TreeFam database of animal gene trees

More...TreeFami		TF317210

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR017191, Junctophilin
IPR003409, MORN

The PANTHER Classification System

More...PANTHERi		PTHR23085, PTHR23085, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02493, MORN, 8 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF037387, Junctophilin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00698, MORN, 7 hits

<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 (2)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 2 <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
Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q8WXH2-1) [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
MSSGGRFNFD DGGSYCGGWE DGKAHGHGVC TGPKGQGEYT GSWSHGFEVL 
        60         70         80         90        100
GVYTWPSGNT YQGTWAQGKR HGIGLESKGK WVYKGEWTHG FKGRYGVREC 
       110        120        130        140        150
AGNGAKYEGT WSNGLQDGYG TETYSDGGTY QGQWVGGMRQ GYGVRQSVPY 
       160        170        180        190        200
GMAAVIRSPL RTSINSLRSE HTNGTALHPD ASPAVAGSPA VSRGGFVLVA 
       210        220        230        240        250
HSDSEILKSK KKGLFRRSLL SGLKLRKSES KSSLASQRSK QSSFRSEAGM 
       260        270        280        290        300
STVSSTASDI HSTISLGEAE AELAVIEDDI DATTTETYVG EWKNDKRSGF 
       310        320        330        340        350
GVSQRSDGLK YEGEWASNRR HGYGCMTFPD GTKEEGKYKQ NILVGGKRKN 
       360        370        380        390        400
LIPLRASKIR EKVDRAVEAA ERAATIAKQK AEIAASRTSH SRAKAEAALT 
       410        420        430        440        450
AAQKAQEEAR IARITAKEFS PSFQHRENGL EYQRPKRQTS CDDIEVLSTG 
       460        470        480        490        500
TPLQQESPEL YRKGTTPSDL TPDDSPLQSF PTSPAATPPP APAARNKVAH 
       510        520        530        540        550
FSRQVSVDEE RGGDIQMLLE GRAGDCARSS WGEEQAGGSR GVRSGALRGG 
       560        570        580        590        600
LLVDDFRTRG SGRKQPGNPK PRERRTESPP VFTWTSHHRA SNHSPGGSRL 
       610        620        630        640        650
LELQEEKLSN YRMEMKPLLR METHPQKRRY SKGGACRGLG DDHRPEDRGF 
       660        670        680        690        700
GVQRLRSKAQ NKENFRPASS AEPAVQKLAS LRLGGAEPRL LRWDLTFSPP 
       710        720        730        740 
QKSLPVALES DEENGDELKS STGSAPILVV MVILLNIGVA ILFINFFI
Length:748
Mass (Da):81,469
Last modified:January 17, 2003 - 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:iB88E5065FD7BCD02
GO
Isoform 2 (identifier: Q8WXH2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     128-188: GTYQGQWVGG...PDASPAVAGS → DATAFGAEPG...DSPISTPQCT
     189-748: Missing.

Show »
Length:188
Mass (Da):19,766
Checksum:i1B7895E8FDFB4310
GO

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 conflicti176A → P in BAB11983 (PubMed:10891348).Curated1
Sequence conflicti186A → D in BAB11983 (PubMed:10891348).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Isoform 2 length of the poly-Ala region is variable (6 to 27 CTG/CAG triplets) in the normal population and may be expanded (41 to 58 CTG/CAG triplets) in patients suffering from Huntington disease-like type 2.

Natural variant

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_032494376I → T1 PublicationCorresponds to variant dbSNP:rs17857118Ensembl.1
Natural variantiVAR_032495472P → T1 PublicationCorresponds to variant dbSNP:rs17853660Ensembl.1
Natural variantiVAR_032496645P → L1 PublicationCorresponds to variant dbSNP:rs17853661Ensembl.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_002787128 – 188GTYQG…AVAGS → DATAFGAEPGPEARELPAAA AAAAAAAAAAAAVRWFLCRE PWPALQLPACLDSPISTPQC T in isoform 2. CuratedAdd BLAST61
Alternative sequenceiVSP_002788189 – 748Missing in isoform 2. CuratedAdd BLAST560

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
AB042636 mRNA Translation: BAB11983.1
AB042640 Genomic DNA Translation: BAB11987.1
CH471114 Genomic DNA Translation: EAW95386.1
CH471114 Genomic DNA Translation: EAW95387.1
BC036533 mRNA Translation: AAH36533.1
AF429315 Genomic DNA Translation: AAL40941.1
BE042890 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10962.1 [Q8WXH2-1]

NCBI Reference Sequences

More...RefSeqi		NP_065706.2, NM_020655.3 [Q8WXH2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000284262; ENSP00000284262; ENSG00000154118 [Q8WXH2-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57338

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57338

UCSC genome browser

More...UCSCi		uc002fkd.5, human [Q8WXH2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Triplet repeat expansion

<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
AB042636 mRNA Translation: BAB11983.1
AB042640 Genomic DNA Translation: BAB11987.1
CH471114 Genomic DNA Translation: EAW95386.1
CH471114 Genomic DNA Translation: EAW95387.1
BC036533 mRNA Translation: AAH36533.1
AF429315 Genomic DNA Translation: AAL40941.1
BE042890 mRNA No translation available.
CCDSiCCDS10962.1 [Q8WXH2-1]
RefSeqiNP_065706.2, NM_020655.3 [Q8WXH2-1]

3D structure databases

SMRiQ8WXH2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi121492, 8 interactors
IntActiQ8WXH2, 210 interactors
MINTiQ8WXH2
STRINGi9606.ENSP00000284262

PTM databases

iPTMnetiQ8WXH2
PhosphoSitePlusiQ8WXH2

Genetic variation databases

BioMutaiJPH3
DMDMi27805485

Proteomic databases

MassIVEiQ8WXH2
PaxDbiQ8WXH2
PeptideAtlasiQ8WXH2
PRIDEiQ8WXH2
ProteomicsDBi75053 [Q8WXH2-1]
75054 [Q8WXH2-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		17225, 183 antibodies

The DNASU plasmid repository

More...DNASUi		57338

Genome annotation databases

EnsembliENST00000284262; ENSP00000284262; ENSG00000154118 [Q8WXH2-1]
GeneIDi57338
KEGGihsa:57338
UCSCiuc002fkd.5, human [Q8WXH2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57338
DisGeNETi57338

GeneCards: human genes, protein and diseases

More...GeneCardsi		JPH3
GeneReviewsiJPH3
HGNCiHGNC:14203, JPH3
HPAiENSG00000154118, Tissue enriched (brain)
MalaCardsiJPH3
MIMi605268, gene
606438, phenotype
neXtProtiNX_Q8WXH2
OpenTargetsiENSG00000154118
Orphaneti98934, Huntington disease-like 2
PharmGKBiPA30000
VEuPathDBiHostDB:ENSG00000154118.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0231, Eukaryota
GeneTreeiENSGT00940000158707
HOGENOMiCLU_008078_2_0_1
InParanoidiQ8WXH2
OMAiGRKQPGN
PhylomeDBiQ8WXH2
TreeFamiTF317210

Enzyme and pathway databases

PathwayCommonsiQ8WXH2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		57338, 4 hits in 874 CRISPR screens

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

More...ChiTaRSi		JPH3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		JPH3

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

More...GenomeRNAii		57338
PharosiQ8WXH2, Tbio

Protein Ontology

More...PROi		PR:Q8WXH2
RNActiQ8WXH2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000154118, Expressed in dorsolateral prefrontal cortex and 119 other tissues
GenevisibleiQ8WXH2, HS

Family and domain databases

InterProiView protein in InterPro
IPR017191, Junctophilin
IPR003409, MORN
PANTHERiPTHR23085, PTHR23085, 2 hits
PfamiView protein in Pfam
PF02493, MORN, 8 hits
PIRSFiPIRSF037387, Junctophilin, 1 hit
SMARTiView protein in SMART
SM00698, MORN, 7 hits

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 nameiJPH3_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: Q8WXH2
Secondary accession number(s): D3DUN2
, Q8N471, Q9HDC3, Q9HDC4
<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 17, 2003
Last sequence update: January 17, 2003
Last modified: February 10, 2021
This is version 170 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 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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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