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UniProtKB - Q5T3J3 (LRIF1_HUMAN)

Entry version 136 (07 Apr 2021)
Sequence version 1 (21 Dec 2004)
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Protein

Ligand-dependent nuclear receptor-interacting factor 1

Gene

LRIF1

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

Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin (PubMed:23542155). Also able to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA), possibly through direct recruitment of histone deacetylases (PubMed:17455211).2 Publications

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

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

Molecular functionRepressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q5T3J3

<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:
Ligand-dependent nuclear receptor-interacting factor 1Curated
Alternative name(s):
HP1-binding protein enriched in inactive X chromosome protein 11 Publication
Short name:
HBiX11 Publication
Receptor-interacting factor 11 Publication
<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:LRIF1Imported
Synonyms:C1orf103Imported, RIF11 Publication
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:30299, LRIF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615354, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q5T3J3

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000121931.15

<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

Keywords - Cellular componenti

Chromosome, Nucleus

<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>Mutagenesisi582 – 584VCL → DCE: Abolishes interaction with HP1 (CBX1/HP1-beta, CBX3/HP1-gamma and CBX5/HP1-alpha). 1 Publication3
Mutagenesisi628 – 630KKR → AAA: Slightly reduces nuclear localization. 1 Publication3
Mutagenesisi642 – 644KKR → AAA: Abolishes nuclear localization. 1 Publication3

Organism-specific databases

DisGeNET

More...DisGeNETi		55791

Open Targets

More...OpenTargetsi		ENSG00000121931

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672487

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q5T3J3, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		LRIF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74744778

<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_00002506861 – 769Ligand-dependent nuclear receptor-interacting factor 1Add BLAST769

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki259Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki279Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei402PhosphoserineCombined sources1
Modified residuei430PhosphoserineCombined sources1
Modified residuei436PhosphoserineCombined sources1
Cross-linki446Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei502PhosphoserineCombined sources1
Modified residuei599PhosphoserineCombined sources1
Cross-linki605Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki702Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei732PhosphothreonineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q5T3J3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q5T3J3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q5T3J3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q5T3J3

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

More...PaxDbi		Q5T3J3

PeptideAtlas

More...PeptideAtlasi		Q5T3J3

PRoteomics IDEntifications database

More...PRIDEi		Q5T3J3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		64403 [Q5T3J3-1]
64404 [Q5T3J3-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q5T3J3, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q5T3J3

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

More...PhosphoSitePlusi		Q5T3J3

<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

Widely expressed, with the highest expression levels in heart, liver and placenta.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000121931, Expressed in calcaneal tendon and 225 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5T3J3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000121931, 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 RARA (PubMed:17455211).

Interacts with SMCHD1; leading to recruitment to inactivated chromosome X in females (PubMed:23542155).

Interacts (via PxVxL motif) with HP1 (CBX1/HP1-beta, CBX3/HP1-gamma and CBX5/HP1-alpha) (PubMed:23542155).

2 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		120905, 197 interactors

Protein interaction database and analysis system

More...IntActi		Q5T3J3, 90 interactors

Molecular INTeraction database

More...MINTi		Q5T3J3

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000358778

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q5T3J3, 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		Q5T3J3

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

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 coili740 – 769Sequence analysisAdd BLAST30

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi580 – 584PxVxL motif1 Publication5
Motifi628 – 631Nuclear localization signal1 Publication4
Motifi642 – 645Nuclear localization signal1 Publication4

<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 Pro-Xaa-Val-Xaa-Leu (PxVxL) motif mediates interaction with HP1 (CBX1/HP1-beta, CBX3/HP1-gamma and CBX5/HP1-alpha).1 Publication

<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 LRIF1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QU1A, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000017353

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_020634_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5T3J3

Identification of Orthologs from Complete Genome Data

More...OMAi		HCVSGCM

Database of Orthologous Groups

More...OrthoDBi		277572at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q5T3J3

TreeFam database of animal gene trees

More...TreeFami		TF336147

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR026191, LRIF1

The PANTHER Classification System

More...PANTHERi		PTHR16131, PTHR16131, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15741, LRIF1, 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
Isoform 1 (identifier: Q5T3J3-1) [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
MSNNLRRVFL KPAEENSGNA SRCVSGCMYQ VVQTIGSDGK NLLQLLPIPK 
        60         70         80         90        100
SSGNLIPLVQ SSVMSDALKG NTGKPVQVTF QTQISSSSTS ASVQLPIFQP 
       110        120        130        140        150
ASSSNYFLTR TVDTSEKGRV TSVGTGNFSS SVSKVQSHGV KIDGLTMQTF 
       160        170        180        190        200
AVPPSTQKDS SFIVVNTQSL PVTVKSPVLP SGHHLQIPAH AEVKSVPASS 
       210        220        230        240        250
LPPSVQQKIL ATATTSTSGM VEASQMPTVI YVSPVNTVKN VVTKNFQNIY 
       260        270        280        290        300
PKPVTEIAKP VILNTTQIPK NVATETQLKG GQHSQAAPVK WIFQDNLQPF 
       310        320        330        340        350
TPSLVPVKSS NNVASKILKT FVDRKNLGDN TINMPPLSTI DPSGTRSKNM 
       360        370        380        390        400
PIKDNALVMF NGKVYLLAKK GTDVLPSQID QQNSVSPDTP VRKDTLQTVS 
       410        420        430        440        450
SSPVTEISRE VVNIVLAKSK SSQMETKSLS NTQLASMANL RAEKNKVEKP 
       460        470        480        490        500
SPSTTNPHMN QSSNYLKQSK TLFTNPIFPV GFSTGHNAPR KVTAVIYARK 
       510        520        530        540        550
GSVLQSIEKI SSSVDATTVT SQQCVFRDQE PKIHNEMAST SDKGAQGRND 
       560        570        580        590        600
KKDSQGRSNK ALHLKSDAEF KKIFGLTKDL RVCLTRIPDH LTSGEGFDSF 
       610        620        630        640        650
SSLVKSGTYK ETEFMVKEGE RKQQNFDKKR KAKTNKKMDH IKKRKTENAY 
       660        670        680        690        700
NAIINGEANV TGSQLLSSIL PTSDVSQHNI LTSHSKTRQE KRTEMEYYTH 
       710        720        730        740        750
EKQEKGTLNS NAAYEQSHFF NKNYTEDIFP VTPPELEETI RDEKIRRLKQ 
       760 
VLREKEAALE EMRKKMHQK
Length:769
Mass (Da):84,568
Last modified:December 21, 2004 - 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:iD39A2BB494F16AAA
GO
Isoform 2 (identifier: Q5T3J3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-536: Missing.

Show »
Length:233
Mass (Da):26,917
Checksum:iD1E3BE5BCD299BAB
GO

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

The sequence AAH08115 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAO43631 differs from that shown. Reason: Frameshift.Curated
The sequence BAA92097 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti66 – 68DAL → NA in AAO43631 (Ref. 1) Curated3
Sequence conflicti72 – 80TGKPVQVTF → PGNQFSY in AAO43631 (Ref. 1) Curated9
Sequence conflicti108 – 111LTRT → PSRP in AAO43631 (Ref. 1) Curated4
Sequence conflicti666Missing in BAA92097 (PubMed:14702039).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_050703438A → T. Corresponds to variant dbSNP:rs2232041Ensembl.1
Natural variantiVAR_027599599S → P. Corresponds to variant dbSNP:rs2232045Ensembl.1
Natural variantiVAR_027600641I → M. Corresponds to variant dbSNP:rs2232047Ensembl.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_0207211 – 536Missing in isoform 2. 1 PublicationAdd BLAST536

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
AY190122 mRNA Translation: AAO43631.1 Frameshift.
AK001826 mRNA Translation: BAA91928.1
AK002131 mRNA Translation: BAA92097.1 Frameshift.
AL360270 Genomic DNA No translation available.
BC008115 mRNA Translation: AAH08115.1 Different initiation.
AL834466 mRNA Translation: CAD39125.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS30800.1 [Q5T3J3-1]
CCDS41366.1 [Q5T3J3-2]

NCBI Reference Sequences

More...RefSeqi		NP_001006946.1, NM_001006945.1 [Q5T3J3-2]
NP_060842.3, NM_018372.3 [Q5T3J3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000369763; ENSP00000358778; ENSG00000121931 [Q5T3J3-1]
ENST00000485275; ENSP00000432290; ENSG00000121931 [Q5T3J3-2]
ENST00000494675; ENSP00000435259; ENSG00000121931 [Q5T3J3-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55791

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55791

UCSC genome browser

More...UCSCi		uc001dzz.4, human [Q5T3J3-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY190122 mRNA Translation: AAO43631.1 Frameshift.
AK001826 mRNA Translation: BAA91928.1
AK002131 mRNA Translation: BAA92097.1 Frameshift.
AL360270 Genomic DNA No translation available.
BC008115 mRNA Translation: AAH08115.1 Different initiation.
AL834466 mRNA Translation: CAD39125.1
CCDSiCCDS30800.1 [Q5T3J3-1]
CCDS41366.1 [Q5T3J3-2]
RefSeqiNP_001006946.1, NM_001006945.1 [Q5T3J3-2]
NP_060842.3, NM_018372.3 [Q5T3J3-1]

3D structure databases

SMRiQ5T3J3
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120905, 197 interactors
IntActiQ5T3J3, 90 interactors
MINTiQ5T3J3
STRINGi9606.ENSP00000358778

PTM databases

GlyGeniQ5T3J3, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ5T3J3
PhosphoSitePlusiQ5T3J3

Genetic variation databases

BioMutaiLRIF1
DMDMi74744778

Proteomic databases

EPDiQ5T3J3
jPOSTiQ5T3J3
MassIVEiQ5T3J3
MaxQBiQ5T3J3
PaxDbiQ5T3J3
PeptideAtlasiQ5T3J3
PRIDEiQ5T3J3
ProteomicsDBi64403 [Q5T3J3-1]
64404 [Q5T3J3-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33789, 95 antibodies

The DNASU plasmid repository

More...DNASUi		55791

Genome annotation databases

EnsembliENST00000369763; ENSP00000358778; ENSG00000121931 [Q5T3J3-1]
ENST00000485275; ENSP00000432290; ENSG00000121931 [Q5T3J3-2]
ENST00000494675; ENSP00000435259; ENSG00000121931 [Q5T3J3-2]
GeneIDi55791
KEGGihsa:55791
UCSCiuc001dzz.4, human [Q5T3J3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55791
DisGeNETi55791

GeneCards: human genes, protein and diseases

More...GeneCardsi		LRIF1
HGNCiHGNC:30299, LRIF1
HPAiENSG00000121931, Low tissue specificity
MIMi615354, gene
neXtProtiNX_Q5T3J3
OpenTargetsiENSG00000121931
PharmGKBiPA142672487
VEuPathDBiHostDB:ENSG00000121931.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QU1A, Eukaryota
GeneTreeiENSGT00390000017353
HOGENOMiCLU_020634_0_0_1
InParanoidiQ5T3J3
OMAiHCVSGCM
OrthoDBi277572at2759
PhylomeDBiQ5T3J3
TreeFamiTF336147

Enzyme and pathway databases

PathwayCommonsiQ5T3J3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55791, 14 hits in 998 CRISPR screens

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

More...ChiTaRSi		LRIF1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		C1orf103

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

More...GenomeRNAii		55791
PharosiQ5T3J3, Tdark

Protein Ontology

More...PROi		PR:Q5T3J3
RNActiQ5T3J3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000121931, Expressed in calcaneal tendon and 225 other tissues
GenevisibleiQ5T3J3, HS

Family and domain databases

InterProiView protein in InterPro
IPR026191, LRIF1
PANTHERiPTHR16131, PTHR16131, 1 hit
PfamiView protein in Pfam
PF15741, LRIF1, 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 nameiLRIF1_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: Q5T3J3
Secondary accession number(s): Q86XS4
, Q8N3B6, Q96HT4, Q9NUM5, Q9NV32
<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: October 3, 2006
Last sequence update: December 21, 2004
Last modified: April 7, 2021
This is version 136 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. Human chromosome 1
    Human chromosome 1: 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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