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Entry version 137 (08 May 2019)
Sequence version 2 (19 Jul 2004)
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Protein

Retinoic acid-induced protein 1

Gene

RAI1

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

Transcriptional regulator of the circadian clock components: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri1780 – 1835C2HC pre-PHD-typePROSITE-ProRule annotationAdd BLAST56
Zinc fingeri1855 – 1903PHD-typePROSITE-ProRule annotationAdd BLAST49

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

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator
Biological processBiological rhythms
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-400253 Circadian Clock

<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_and_taxonomy_section">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:
Retinoic acid-induced protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:RAI1
Synonyms:KIAA1820
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Human Gene Nomenclature Database

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HGNCi
HGNC:9834 RAI1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607642 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q7Z5J4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, 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

<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

Smith-Magenis syndrome (SMS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079636758 – 1906Missing in SMS. 1 PublicationAdd BLAST1149

Organism-specific databases

DisGeNET

More...
DisGeNETi
10743

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

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GeneReviewsi
RAI1

MalaCards human disease database

More...
MalaCardsi
RAI1
MIMi182290 phenotype

Open Targets

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OpenTargetsi
ENSG00000108557

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

More...
Orphaneti
1713 17p11.2 microduplication syndrome
477817 PMP22-RAI1 contiguous gene duplication syndrome
819 Smith-Magenis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34188

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RAI1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
50400978

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000971591 – 1906Retinoic acid-induced protein 1Add BLAST1906

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 residuei339PhosphoserineCombined sources1
Modified residuei345PhosphoserineCombined sources1
Modified residuei472PhosphothreonineCombined sources1
Modified residuei568PhosphoserineCombined sources1
Modified residuei683PhosphoserineCombined sources1
Modified residuei696PhosphothreonineCombined sources1
Modified residuei805PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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-linki811Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki819Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Modified residuei880PhosphoserineCombined sources1
Modified residuei892PhosphoserineCombined sources1
Cross-linki901Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki901Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei1064PhosphoserineCombined sources1
Modified residuei1068PhosphothreonineCombined sources1
Modified residuei1122PhosphoserineCombined sources1
Modified residuei1352PhosphoserineCombined sources1
Modified residuei1358PhosphoserineCombined sources1
Modified residuei1374PhosphoserineCombined sources1
Cross-linki1425Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1431PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q7Z5J4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q7Z5J4

MaxQB - The MaxQuant DataBase

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MaxQBi
Q7Z5J4

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

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PaxDbi
Q7Z5J4

PeptideAtlas

More...
PeptideAtlasi
Q7Z5J4

PRoteomics IDEntifications database

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PRIDEi
Q7Z5J4

ProteomicsDB human proteome resource

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ProteomicsDBi
69303
69304 [Q7Z5J4-2]
69305 [Q7Z5J4-3]
69306 [Q7Z5J4-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q7Z5J4

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

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PhosphoSitePlusi
Q7Z5J4

<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

Expressed in all tissues examined with higher expression in the heart and brain. No expression was seen in the corpus callosum of the brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000108557 Expressed in 211 organ(s), highest expression level in brain

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q7Z5J4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q7Z5J4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA023898
HPA054906

<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_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
PIN1Q135264EBI-743815,EBI-714158

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115966, 32 interactors

Protein interaction database and analysis system

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IntActi
Q7Z5J4, 19 interactors

Molecular INTeraction database

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MINTi
Q7Z5J4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000323074

<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

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>Motifi1160 – 1177Nuclear localization signalSequence analysisAdd BLAST18
Motifi1223 – 1240Nuclear localization signalSequence analysisAdd BLAST18

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 biasi124 – 135Poly-ProAdd BLAST12
Compositional biasi156 – 336Gln-richAdd BLAST181
Compositional biasi278 – 291Poly-GlnAdd BLAST14
Compositional biasi1243 – 1249Poly-Ser7
Compositional biasi1493 – 1496Poly-Gly4
Compositional biasi1628 – 1641Ser-richAdd BLAST14
Compositional biasi1746 – 1751Poly-Ala6

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1780 – 1835C2HC pre-PHD-typePROSITE-ProRule annotationAdd BLAST56
Zinc fingeri1855 – 1903PHD-typePROSITE-ProRule annotationAdd BLAST49

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IJJX Eukaryota
ENOG410Z8S8 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156922

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q7Z5J4

KEGG Orthology (KO)

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KOi
K19749

Identification of Orthologs from Complete Genome Data

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OMAi
PKAPLLC

Database of Orthologous Groups

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OrthoDBi
1203862at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q7Z5J4

TreeFam database of animal gene trees

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TreeFami
TF331317

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR034732 EPHD
IPR001965 Znf_PHD
IPR013083 Znf_RING/FYVE/PHD

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00249 PHD, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51805 EPHD, 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_length">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 4 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z5J4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MQSFRERCGF HGKQQNYQQT SQETSRLENY RQPSQAGLSC DRQRLLAKDY
60 70 80 90 100
YNPQPYPSYE GGAGTPSGTA AAVAADKYHR GSKALPTQQG LQGRPAFPGY
110 120 130 140 150
GVQDSSPYPG RYAGEESLQA WGAPQPPPPQ PQPLPAGVAK YDENLMKKTA
160 170 180 190 200
VPPSRQYAEQ GAQVPFRTHS LHVQQPPPPQ QPLAYPKLQR QKLQNDIASP
210 220 230 240 250
LPFPQGTHFP QHSQSFPTSS TYSSSVQGGG QGAHSYKSCT APTAQPHDRP
260 270 280 290 300
LTASSSLAPG QRVQNLHAYQ SGRLSYDQQQ QQQQQQQQQQ QALQSRHHAQ
310 320 330 340 350
ETLHYQNLAK YQHYGQQGQG YCQPDAAVRT PEQYYQTFSP SSSHSPARSV
360 370 380 390 400
GRSPSYSSTP SPLMPNLENF PYSQQPLSTG AFPAGITDHS HFMPLLNPSP
410 420 430 440 450
TDATSSVDTQ AGNCKPLQKD KLPENLLSDL SLQSLTALTS QVENISNTVQ
460 470 480 490 500
QLLLSKAAVP QKKGVKNLVS RTPEQHKSQH CSPEGSGYSA EPAGTPLSEP
510 520 530 540 550
PSSTPQSTHA EPQEADYLSG SEDPLERSFL YCNQARGSPA RVNSNSKAKP
560 570 580 590 600
ESVSTCSVTS PDDMSTKSDD SFQSLHGSLP LDSFSKFVAG ERDCPRLLLS
610 620 630 640 650
ALAQEDLASE ILGLQEAIGE KADKAWAEAP SLVKDSSKPP FSLENHSACL
660 670 680 690 700
DSVAKSAWPR PGEPEALPDS LQLDKGGNAK DFSPGLFEDP SVAFATPDPK
710 720 730 740 750
KTTGPLSFGT KPTLGVPAPD PTTAAFDCFP DTTAASSADS ANPFAWPEEN
760 770 780 790 800
LGDACPRWGL HPGELTKGLE QGGKASDGIS KGDTHEASAC LGFQEEDPPG
810 820 830 840 850
EKVASLPGDF KQEEVGGVKE EAGGLLQCPE VAKADRWLED SRHCCSTADF
860 870 880 890 900
GDLPLLPPTS RKEDLEAEEE YSSLCELLGS PEQRPGMQDP LSPKAPLICT
910 920 930 940 950
KEEVEEVLDS KAGWGSPCHL SGESVILLGP TVGTESKVQS WFESSLSHMK
960 970 980 990 1000
PGEEGPDGER APGDSTTSDA SLAQKPNKPA VPEAPIAKKE PVPRGKSLRS
1010 1020 1030 1040 1050
RRVHRGLPEA EDSPCRAPVL PKDLLLPESC TGPPQGQMEG AGAPGRGASE
1060 1070 1080 1090 1100
GLPRMCTRSL TALSEPRTPG PPGLTTTPAP PDKLGGKQRA AFKSGKRVGK
1110 1120 1130 1140 1150
PSPKAASSPS NPAALPVASD SSPMGSKTKE TDSPSTPGKD QRSMILRSRT
1160 1170 1180 1190 1200
KTQEIFHSKR RRPSEGRLPN CRATKKLLDN SHLPATFKVS SSPQKEGRVS
1210 1220 1230 1240 1250
QRARVPKPGA GSKLSDRPLH ALKRKSAFMA PVPTKKRNLV LRSRSSSSSN
1260 1270 1280 1290 1300
ASGNGGDGKE ERPEGSPTLF KRMSSPKKAK PTKGNGEPAT KLPPPETPDA
1310 1320 1330 1340 1350
CLKLASRAAF QGAMKTKVLP PRKGRGLKLE AIVQKITSPS LKKFACKAPG
1360 1370 1380 1390 1400
ASPGNPLSPS LSDKDRGLKG AGGSPVGVEE GLVNVGTGQK LPTSGADPLC
1410 1420 1430 1440 1450
RNPTNRSLKG KLMNSKKLSS TDCFKTEAFT SPEALQPGGT ALAPKKRSRK
1460 1470 1480 1490 1500
GRAGAHGLSK GPLEKRPYLG PALLLTPRDR ASGTQGASED NSGGGGKKPK
1510 1520 1530 1540 1550
MEELGLASQP PEGRPCQPQT RAQKQPGHTN YSSYSKRKRL TRGRAKNTTS
1560 1570 1580 1590 1600
SPCKGRAKRR RQQQVLPLDP AEPEIRLKYI SSCKRLRSDS RTPAFSPFVR
1610 1620 1630 1640 1650
VEKRDAFTTI CTVVNSPGDA PKPHRKPSSS ASSSSSSSSF SLDAAGASLA
1660 1670 1680 1690 1700
TLPGGSILQP RPSLPLSSTM HLGPVVSKAL STSCLVCCLC QNPANFKDLG
1710 1720 1730 1740 1750
DLCGPYYPEH CLPKKKPKLK EKVRPEGTCE EASLPLERTL KGPECAAAAT
1760 1770 1780 1790 1800
AGKPPRPDGP ADPAKQGPLR TSARGLSRRL QSCYCCDGRE DGGEEAAPAD
1810 1820 1830 1840 1850
KGRKHECSKE APAEPGGEAQ EHWVHEACAV WTGGVYLVAG KLFGLQEAMK
1860 1870 1880 1890 1900
VAVDMMCSSC QEAGATIGCC HKGCLHTYHY PCASDAGCIF IEENFSLKCP

KHKRLP
Length:1,906
Mass (Da):203,352
Last modified:July 19, 2004 - 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:i8D33A56C33BFE888
GO
Isoform 2 (identifier: Q7Z5J4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     207-233: THFPQHSQSFPTSSTYSSSVQGGGQGA → WWAGG
     407-434: VDTQAGNCKPLQKDKLPENLLSDLSLQS → PAD
     1415-1479: Missing.
     1803-1821: Missing.
     1856-1906: MCSSCQEAGA...LKCPKHKRLP → HGGTVALAPG...LCWAMPGTWK

Show »
Length:1,862
Mass (Da):198,392
Checksum:i9C4D9E4EF917A911
GO
Isoform 3 (identifier: Q7Z5J4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1598-1640: FVRVEKRDAF...ASSSSSSSSF → LEPSLGAQNP...AYSAREQGQR
     1641-1906: Missing.

Note: No experimental confirmation available.
Show »
Length:1,640
Mass (Da):175,343
Checksum:iA178ECCDECEDA431
GO
Isoform 4 (identifier: Q7Z5J4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     947-966: SHMKPGEEGPDGERAPGDST → YSVYICIHIHIYNIYEDCKC
     967-1906: Missing.

Note: No experimental confirmation available.
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Length:966
Mass (Da):104,319
Checksum:iEBD2A4453EADBA58
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MXE8A8MXE8_HUMAN
Retinoic acid-induced protein 1
RAI1
942Annotation 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>
J3QLL5J3QLL5_HUMAN
Retinoic acid-induced protein 1
RAI1
65Annotation 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>
A0A1W2PQJ7A0A1W2PQJ7_HUMAN
Retinoic acid-induced protein 1
RAI1
1,724Annotation 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>
J3QR08J3QR08_HUMAN
Retinoic acid-induced protein 1
RAI1
156Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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

The sequence BAB47449 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti440S → L in AAO31738 (PubMed:12837267).Curated1
Sequence conflicti1302L → F in AAO31738 (PubMed:12837267).Curated1
Sequence conflicti1513G → A in AAO31738 (PubMed:12837267).Curated1
Sequence conflicti1682T → A in CAD39144 (PubMed:17974005).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_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

The poly-Gln tract is polymorphic and the number of Gln varies from 12 to 14 (PubMed:11404004). The size of the poly-Gln region may influence the age at onset of spinocerebellar ataxia type 2 (SCA2) (PubMed:10915763).2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05130090G → A. Corresponds to variant dbSNP:rs3803763EnsemblClinVar.1
Natural variantiVAR_024344165P → T. Corresponds to variant dbSNP:rs11649804EnsemblClinVar.1
Natural variantiVAR_079636758 – 1906Missing in SMS. 1 PublicationAdd BLAST1149
Natural variantiVAR_051301939Q → P. Corresponds to variant dbSNP:rs1759075Ensembl.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_010995207 – 233THFPQ…GGQGA → WWAGG in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_010996407 – 434VDTQA…LSLQS → PAD in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_010997947 – 966SHMKP…PGDST → YSVYICIHIHIYNIYEDCKC in isoform 4. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_010998967 – 1906Missing in isoform 4. 1 PublicationAdd BLAST940
Alternative sequenceiVSP_0109991415 – 1479Missing in isoform 2. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_0110001598 – 1640FVRVE…SSSSF → LEPSLGAQNPRSGQNAPPAP ADARPLCTTRDRRAYSAREQ GQR in isoform 3. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_0110011641 – 1906Missing in isoform 3. 1 PublicationAdd BLAST266
Alternative sequenceiVSP_0110021803 – 1821Missing in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0110031856 – 1906MCSSC…HKRLP → HGGTVALAPGDFSLPGLRFA SLFQGPSWCDCPVLATSTPS SWSRCVPAAKKPGPPLGAAT KDASTPTTTRVPAMQVRARP GTGGHWSPSKQSRGTLPGHS SPNPGPISLFSFPPLLPQQF FYPSVCLDLCWAMPGTWK in isoform 2. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AJ271790 mRNA Translation: CAC20423.1
AJ271791 Genomic DNA Translation: CAC20424.1
AY172136 mRNA Translation: AAO31738.1
AB058723 mRNA Translation: BAB47449.1 Different initiation.
BC021209 mRNA Translation: AAH21209.1
AL133649 mRNA Translation: CAB63768.1
AL834468 mRNA Translation: CAD39127.1
AL834486 mRNA Translation: CAD39144.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11188.1 [Q7Z5J4-1]

Protein sequence database of the Protein Information Resource

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PIRi
T43490

NCBI Reference Sequences

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RefSeqi
NP_109590.3, NM_030665.3 [Q7Z5J4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000353383; ENSP00000323074; ENSG00000108557 [Q7Z5J4-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10743

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10743

UCSC genome browser

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UCSCi
uc002grm.4 human [Q7Z5J4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, 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
AJ271790 mRNA Translation: CAC20423.1
AJ271791 Genomic DNA Translation: CAC20424.1
AY172136 mRNA Translation: AAO31738.1
AB058723 mRNA Translation: BAB47449.1 Different initiation.
BC021209 mRNA Translation: AAH21209.1
AL133649 mRNA Translation: CAB63768.1
AL834468 mRNA Translation: CAD39127.1
AL834486 mRNA Translation: CAD39144.1
CCDSiCCDS11188.1 [Q7Z5J4-1]
PIRiT43490
RefSeqiNP_109590.3, NM_030665.3 [Q7Z5J4-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi115966, 32 interactors
IntActiQ7Z5J4, 19 interactors
MINTiQ7Z5J4
STRINGi9606.ENSP00000323074

PTM databases

iPTMnetiQ7Z5J4
PhosphoSitePlusiQ7Z5J4

Polymorphism and mutation databases

BioMutaiRAI1
DMDMi50400978

Proteomic databases

EPDiQ7Z5J4
jPOSTiQ7Z5J4
MaxQBiQ7Z5J4
PaxDbiQ7Z5J4
PeptideAtlasiQ7Z5J4
PRIDEiQ7Z5J4
ProteomicsDBi69303
69304 [Q7Z5J4-2]
69305 [Q7Z5J4-3]
69306 [Q7Z5J4-4]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
10743
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000353383; ENSP00000323074; ENSG00000108557 [Q7Z5J4-1]
GeneIDi10743
KEGGihsa:10743
UCSCiuc002grm.4 human [Q7Z5J4-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10743
DisGeNETi10743

GeneCards: human genes, protein and diseases

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GeneCardsi
RAI1
GeneReviewsiRAI1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0013588
HGNCiHGNC:9834 RAI1
HPAiHPA023898
HPA054906
MalaCardsiRAI1
MIMi182290 phenotype
607642 gene
neXtProtiNX_Q7Z5J4
OpenTargetsiENSG00000108557
Orphaneti1713 17p11.2 microduplication syndrome
477817 PMP22-RAI1 contiguous gene duplication syndrome
819 Smith-Magenis syndrome
PharmGKBiPA34188

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJJX Eukaryota
ENOG410Z8S8 LUCA
GeneTreeiENSGT00940000156922
InParanoidiQ7Z5J4
KOiK19749
OMAiPKAPLLC
OrthoDBi1203862at2759
PhylomeDBiQ7Z5J4
TreeFamiTF331317

Enzyme and pathway databases

ReactomeiR-HSA-400253 Circadian Clock

Miscellaneous databases

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

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ChiTaRSi
RAI1 human

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

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GenomeRNAii
10743

Protein Ontology

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PROi
PR:Q7Z5J4

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108557 Expressed in 211 organ(s), highest expression level in brain
ExpressionAtlasiQ7Z5J4 baseline and differential
GenevisibleiQ7Z5J4 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR034732 EPHD
IPR001965 Znf_PHD
IPR013083 Znf_RING/FYVE/PHD
SMARTiView protein in SMART
SM00249 PHD, 1 hit
PROSITEiView protein in PROSITE
PS51805 EPHD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiRAI1_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: Q7Z5J4
Secondary accession number(s): Q8N3B4
, Q8ND08, Q8WU64, Q96JK5, Q9H1C1, Q9H1C2, Q9UF69
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 19, 2004
Last modified: May 8, 2019
This is version 137 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

Complete proteome, Reference proteome

Documents

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