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UniProtKB - Q96NA2 (RILP_HUMAN)

Entry version 158 (02 Dec 2020)
Sequence version 1 (01 Dec 2001)
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Protein

Rab-interacting lysosomal protein

Gene

RILP

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

Rab effector playing a role in late endocytic transport to degradative compartments (PubMed:11696325, PubMed:14668488, PubMed:27113757, PubMed:11179213, PubMed:12944476). Involved in the regulation of lysosomal morphology and distribution (PubMed:14668488, PubMed:27113757). Induces recruitment of dynein-dynactin motor complexes to Rab7A-containing late endosome and lysosome compartments (PubMed:11179213, PubMed:11696325). Promotes centripetal migration of phagosomes and the fusion of phagosomes with the late endosomes and lysosomes (PubMed:12944476).5 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

Complete GO annotation on QuickGO ...

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 processProtein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96NA2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2132295, MHC class II antigen presentation

<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:
Rab-interacting lysosomal 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:RILP
ORF Names:PP10141
<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 17

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000167705.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:30266, RILP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607848, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96NA2

<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

Cytoplasmic vesicle, Endosome, Lysosome, 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

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>Mutagenesisi248F → A: Strongly reduces dimerization and localization to late endosomal/lysosomal compartments. 1 Publication1
Mutagenesisi251I → A: Abolishes dimerization, interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication1
Mutagenesisi252L → A: Abolishes interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication1
Mutagenesisi255R → A: Abolishes dimerization, interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication1
Mutagenesisi258L → A: Reduces dimerization, interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication1
Mutagenesisi304K → A: Abolishes interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication1
Mutagenesisi305M → A: Abolishes interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication1
Mutagenesisi306L → A: Abolishes interaction with RAB7A and localization to late endosomal/lysosomal compartments. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		83547

Open Targets

More...OpenTargetsi		ENSG00000167705

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134915969

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96NA2, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RILP

Domain mapping of disease mutations (DMDM)

More...DMDMi		74732524

<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_00000973391 – 401Rab-interacting lysosomal proteinAdd BLAST401

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 residuei308PhosphothreonineCombined sources1
Modified residuei314PhosphoserineCombined sources1
Modified residuei315PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96NA2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96NA2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96NA2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96NA2

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

More...PaxDbi		Q96NA2

PeptideAtlas

More...PeptideAtlasi		Q96NA2

PRoteomics IDEntifications database

More...PRIDEi		Q96NA2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		77494 [Q96NA2-1]
77495 [Q96NA2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96NA2

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

More...PhosphoSitePlusi		Q96NA2

<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

Ubiquitous. Strongly expressed in fetal heart, heart, stomach, spleen, adrenal gland, thyroid gland, salivary gland, fetal liver, liver and lung. Poorly expressed in brain.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000167705, Expressed in apex of heart and 212 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96NA2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96NA2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000167705, Tissue enhanced (skeletal)

<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

Homodimer (PubMed:15996637, PubMed:15933719).

Interacts with RAB7A (PubMed:11179213, PubMed:14668488, PubMed:22431521).

Interacts with RAB34 (PubMed:14668488, PubMed:12475955, PubMed:27113757).

Identified in a complex with MREG and DCTN1; interacts directly with MREG (By similarity).

Interacts with CLN3 (PubMed:22261744).

Interacts with FLCN; the interaction is direct and promotes association between RILP and RAB34 (PubMed:27113757).

By similarity8 Publications

<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

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123679, 12 interactors

Database of interacting proteins

More...DIPi		DIP-29458N

Protein interaction database and analysis system

More...IntActi		Q96NA2, 12 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000301336

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96NA2, 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

1401
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		Q96NA2

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		Q96NA2

<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 <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini11 – 101RH1PROSITE-ProRule annotationAdd BLAST91
Domaini240 – 316RH2PROSITE-ProRule annotationAdd BLAST77

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>Regioni272 – 333Necessary for interaction with RAB7A and RAB34, lysosomal distribution and morphologyAdd BLAST62

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili75 – 181Sequence analysisAdd BLAST107

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502RXH1, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161117

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_044133_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96NA2

Identification of Orthologs from Complete Genome Data

More...OMAi		ALHEHLC

Database of Orthologous Groups

More...OrthoDBi		890179at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96NA2

TreeFam database of animal gene trees

More...TreeFami		TF313489

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019143, JNK/Rab-associated_protein-1_N
IPR034743, RH1
IPR034744, RH2
IPR021563, RILP_dimer

Pfam protein domain database

More...Pfami		View protein in Pfam
PF09744, Jnk-SapK_ap_N, 1 hit
PF11461, RILP, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51776, RH1, 1 hit
PS51777, RH2, 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 (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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96NA2-1) [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
MEPRRAAPGV PGWGSREAAG SASAAELVYH LAGALGTELQ DLARRFGPEA 
        60         70         80         90        100
AAGLVPLVVR ALELLEQAAV GPAPDSLQVS AQPAEQELRR LREENERLRR 
       110        120        130        140        150
ELRAGPQEER ALLRQLKEVT DRQRDELRAH NRDLRQRGQE TEALQEQLQR 
       160        170        180        190        200
LLLVNAELRH KLAAMQTQLR AAQDRERERQ QPGEAATPQA KERARGQAGR 
       210        220        230        240        250
PGHQHGQEPE WATAGAGAPG NPEDPAEAAQ QLGRPSEAGQ CRFSREEFEQ 
       260        270        280        290        300
ILQERNELKA KVFLLKEELA YFQRELLTDH RVPGLLLEAM KVAVRKQRKK 
       310        320        330        340        350
IKAKMLGTPE EAESSEDEAG PWILLSDDKG DHPPPPESKI QSFFGLWYRG 
       360        370        380        390        400
KAESSEDETS SPAPSKLGGE EEAQPQSPAP DPPCSALHEH LCLGASAAPE 

A
Length:401
Mass (Da):44,200
Last modified:December 1, 2001 - 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:i1057A1DAC2FFED94
GO
Isoform 2 (identifier: Q96NA2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-210: Missing.
     211-213: WAT → MGA

Show »
Length:191
Mass (Da):20,726
Checksum:i76673702E0FF4FFD
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L1U0I3L1U0_HUMAN
Rab-interacting lysosomal protein
RILP
226Annotation 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>
A0A0J9YWQ1A0A0J9YWQ1_HUMAN
Rab-interacting lysosomal protein
RILP
226Annotation 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 conflicti284G → S in CAC33443 (PubMed:11179213).Curated1

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_05132181A → T1 PublicationCorresponds to variant dbSNP:rs9909321Ensembl.1
Natural variantiVAR_034417281R → Q. Corresponds to variant dbSNP:rs34982553Ensembl.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_0160431 – 210Missing in isoform 2. 1 PublicationAdd BLAST210
Alternative sequenceiVSP_016044211 – 213WAT → MGA in isoform 2. 1 Publication3

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
AJ404317 mRNA Translation: CAC33443.1
AK055755 mRNA Translation: BAB71003.1
AK314767 mRNA Translation: BAG37305.1
AF370391 mRNA Translation: AAQ15227.1
AJ278711 mRNA Translation: CAC82174.1
BC004961 mRNA Translation: AAH04961.1
BC031621 mRNA Translation: AAH31621.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11009.1 [Q96NA2-1]

NCBI Reference Sequences

More...RefSeqi		NP_113618.2, NM_031430.2 [Q96NA2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000301336; ENSP00000301336; ENSG00000167705 [Q96NA2-1]
ENST00000622136; ENSP00000481849; ENSG00000274145 [Q96NA2-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		83547

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:83547

UCSC genome browser

More...UCSCi		uc002ftd.4, human [Q96NA2-1]

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
AJ404317 mRNA Translation: CAC33443.1
AK055755 mRNA Translation: BAB71003.1
AK314767 mRNA Translation: BAG37305.1
AF370391 mRNA Translation: AAQ15227.1
AJ278711 mRNA Translation: CAC82174.1
BC004961 mRNA Translation: AAH04961.1
BC031621 mRNA Translation: AAH31621.1
CCDSiCCDS11009.1 [Q96NA2-1]
RefSeqiNP_113618.2, NM_031430.2 [Q96NA2-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1YHNX-ray3.00B244-308[»]
SMRiQ96NA2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi123679, 12 interactors
DIPiDIP-29458N
IntActiQ96NA2, 12 interactors
STRINGi9606.ENSP00000301336

PTM databases

iPTMnetiQ96NA2
PhosphoSitePlusiQ96NA2

Polymorphism and mutation databases

BioMutaiRILP
DMDMi74732524

Proteomic databases

EPDiQ96NA2
jPOSTiQ96NA2
MassIVEiQ96NA2
MaxQBiQ96NA2
PaxDbiQ96NA2
PeptideAtlasiQ96NA2
PRIDEiQ96NA2
ProteomicsDBi77494 [Q96NA2-1]
77495 [Q96NA2-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		42527, 73 antibodies

The DNASU plasmid repository

More...DNASUi		83547

Genome annotation databases

EnsembliENST00000301336; ENSP00000301336; ENSG00000167705 [Q96NA2-1]
ENST00000622136; ENSP00000481849; ENSG00000274145 [Q96NA2-1]
GeneIDi83547
KEGGihsa:83547
UCSCiuc002ftd.4, human [Q96NA2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		83547
DisGeNETi83547
EuPathDBiHostDB:ENSG00000167705.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		RILP
HGNCiHGNC:30266, RILP
HPAiENSG00000167705, Tissue enhanced (skeletal)
MIMi607848, gene
neXtProtiNX_Q96NA2
OpenTargetsiENSG00000167705
PharmGKBiPA134915969

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502RXH1, Eukaryota
GeneTreeiENSGT00940000161117
HOGENOMiCLU_044133_1_0_1
InParanoidiQ96NA2
OMAiALHEHLC
OrthoDBi890179at2759
PhylomeDBiQ96NA2
TreeFamiTF313489

Enzyme and pathway databases

PathwayCommonsiQ96NA2
ReactomeiR-HSA-2132295, MHC class II antigen presentation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		83547, 44 hits in 839 CRISPR screens

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

More...ChiTaRSi		RILP, human
EvolutionaryTraceiQ96NA2

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RILP_(gene)

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

More...GenomeRNAii		83547
PharosiQ96NA2, Tbio

Protein Ontology

More...PROi		PR:Q96NA2
RNActiQ96NA2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000167705, Expressed in apex of heart and 212 other tissues
ExpressionAtlasiQ96NA2, baseline and differential
GenevisibleiQ96NA2, HS

Family and domain databases

InterProiView protein in InterPro
IPR019143, JNK/Rab-associated_protein-1_N
IPR034743, RH1
IPR034744, RH2
IPR021563, RILP_dimer
PfamiView protein in Pfam
PF09744, Jnk-SapK_ap_N, 1 hit
PF11461, RILP, 1 hit
PROSITEiView protein in PROSITE
PS51776, RH1, 1 hit
PS51777, RH2, 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 nameiRILP_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: Q96NA2
Secondary accession number(s): B2RBQ8
, Q71RE6, Q9BSL3, Q9BYS3
<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: November 8, 2005
Last sequence update: December 1, 2001
Last modified: December 2, 2020
This is version 158 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

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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