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UniProtKB - Q96D71 (REPS1_HUMAN)

Entry version 180 (07 Apr 2021)
Sequence version 3 (03 Nov 2009)
Previous versions | rss
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Protein

RalBP1-associated Eps domain-containing protein 1

Gene

REPS1

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

May coordinate the cellular actions of activated EGF receptors and Ral-GTPases.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi331 – 342PROSITE-ProRule annotationAdd BLAST12

<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

LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96D71

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828, Clathrin-mediated endocytosis

<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:
RalBP1-associated Eps domain-containing protein 1
Alternative name(s):
RalBP1-interacting protein 1
<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:REPS1
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:15578, REPS1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614825, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96D71

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000135597.18

<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

Coated pit, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neurodegeneration with brain iron accumulation 7 (NBIA7)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Clinical features include speech and motor delay, truncal hypotonia, progressive cerebellar ataxia, and loss of ambulation. NBIA7 transmission pattern is consistent with autosomal recessive inheritance.
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_08063478V → L in NBIA7; primary fibroblasts from patients, who are compound heterozygous with E-113, show much higher intracellular iron content than fibroblasts from control individuals and abnormally elevated levels of transferrin receptor 1/TFRC at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs1554292444EnsemblClinVar.1
Natural variantiVAR_080635113A → E in NBIA7; primary fibroblasts from patients, who are compound heterozygous with L-78, show much higher intracellular iron content than fibroblasts from control individuals and abnormally elevated levels of transferrin receptor 1/TFRC at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs201191394EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		85021

MalaCards human disease database

More...MalaCardsi		REPS1
MIMi617916, phenotype

Open Targets

More...OpenTargetsi		ENSG00000135597

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34329

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96D71, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		REPS1

Domain mapping of disease mutations (DMDM)

More...DMDMi		262527572

<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_00000738291 – 796RalBP1-associated Eps domain-containing protein 1Add BLAST796

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 residuei143PhosphoserineCombined sources1
Modified residuei145PhosphoserineCombined sources1
Modified residuei162PhosphoserineCombined sources1
Modified residuei166PhosphoserineCombined sources1
Modified residuei170PhosphoserineCombined sources1
Modified residuei173PhosphothreonineCombined sources1
Modified residuei272PhosphoserineCombined sources1
Modified residuei273PhosphoserineCombined sources1
Modified residuei288PhosphotyrosineSequence analysis1
Modified residuei307PhosphoserineCombined sources1
Modified residuei475PhosphoserineCombined sources1
Modified residuei482PhosphoserineCombined sources1
Modified residuei489PhosphoserineCombined sources1
Modified residuei540PhosphoserineCombined sources1
Modified residuei544PhosphothreonineBy similarity1
Modified residuei562PhosphoserineCombined sources1
Modified residuei709PhosphoserineCombined sources1
Modified residuei740PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

EGF stimulates phosphorylation on Tyr-residues.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96D71

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96D71

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96D71

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96D71

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

More...PaxDbi		Q96D71

PeptideAtlas

More...PeptideAtlasi		Q96D71

PRoteomics IDEntifications database

More...PRIDEi		Q96D71

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76256 [Q96D71-1]
76257 [Q96D71-2]
76258 [Q96D71-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96D71

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

More...PhosphoSitePlusi		Q96D71

<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 highest levels in heart and testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000135597, Expressed in ventricular zone and 210 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96D71, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96D71, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000135597, 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

Homodimer (Potential).

Interacts with RAB11FIP2.

Interacts with RALBP1, CRK and GRB2. Binding to RALBP1 does not affect its Ral-binding activity.

Forms a complex with the SH3 domains of CRK and GRB2 which may link it to an EGF-responsive tyrosine kinase (By similarity).

Interacts with AMPH, ITSN1 (via SH3 domains) and SGIP1; may be involved in clathrin-mediated endocytosis.

By similarityCurated2 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		124433, 57 interactors

Protein interaction database and analysis system

More...IntActi		Q96D71, 42 interactors

Molecular INTeraction database

More...MINTi		Q96D71

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000392065

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96D71, 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

Biological Magnetic Resonance Data Bank

More...BMRBi		Q96D71

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q96D71

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <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>Domaini10 – 113EH 1PROSITE-ProRule annotationAdd BLAST104
Domaini285 – 374EH 2PROSITE-ProRule annotationAdd BLAST90
Domaini318 – 353EF-handPROSITE-ProRule annotationAdd BLAST36

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>Regioni652 – 796Interaction with RALBP1By similarityAdd BLAST145

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 coili751 – 791Sequence analysisAdd BLAST41

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 biasi541 – 604Pro-richAdd BLAST64

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1955, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158749

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96D71

Identification of Orthologs from Complete Genome Data

More...OMAi		HDTVQSR

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96D71

TreeFam database of animal gene trees

More...TreeFami		TF316546

Family and domain databases

Conserved Domains Database

More...CDDi		cd00052, EH, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
IPR000261, EH_dom
IPR026814, Reps1

The PANTHER Classification System

More...PANTHERi		PTHR11216:SF63, PTHR11216:SF63, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12763, EF-hand_4, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00027, EH, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47473, SSF47473, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00018, EF_HAND_1, 1 hit
PS50222, EF_HAND_2, 1 hit
PS50031, EH, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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 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. 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 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96D71-1) [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
MEGLTLSDAE QKYYSDLFSY CDIESTKKVV VNGRVLELFR AAQLPNDVVL 
        60         70         80         90        100
QIMELCGATR LGYFGRSQFY IALKLVAVAQ SGFPLRVESI NTVKDLPLPR 
       110        120        130        140        150
FVASKNEQES RHAASYSSDS ENQGSYSGVI PPPPGRGQVK KGSVSHDTVQ 
       160        170        180        190        200
PRTSADAQEP ASPVVSPQQS PPTSPHTWRK HSRHPSGGNS ERPLAGPGPF 
       210        220        230        240        250
WSPFGEAQSG SSAGDAVWSG HSPPPPQENW VSFADTPPTS TLLTMHPASV 
       260        270        280        290        300
QDQTTVRTVA SATTAIEIRR QSSSYDDPWK ITDEQRQYYV NQFKTIQPDL 
       310        320        330        340        350
NGFIPGSAAK EFFTKSKLPI LELSHIWELS DFDKDGALTL DEFCAAFHLV 
       360        370        380        390        400
VARKNGYDLP EKLPESLMPK LIDLEDSADV GDQPGEVGYS GSPAEAPPSK 
       410        420        430        440        450
SPSMPSLNQT WPELNQSSEQ WETFSERSSS SQTLTQFDSN IAPADPDTAI 
       460        470        480        490        500
VHPVPIRMTP SKIHMQEMEL KRTGSDHTNP TSPLLVKPSD LLEENKINSS 
       510        520        530        540        550
VKFASGNTVA DGYSSSDSFT SDPEQIGSNV TRQRSHSGTS PDNTAPPPPP 
       560        570        580        590        600
PRPQPSHSRS SSLDMNRTFT VTTGQQQAGV VAHPPAVPPR PQPSQAPGPA 
       610        620        630        640        650
VHRPVDADGL ITHTSTSPQQ IPEQPNFADF SQFEVFAASN VNDEQDDEAE 
       660        670        680        690        700
KHPEVLPAEK ASDPASSLRV AKTDSKTEEK TAASAPANVS KGTTPLAPPP 
       710        720        730        740        750
KPVRRRLKSE DELRPEVDEH TQKTGVLAAV LASQPSIPRS VGKDKKAIQA 
       760        770        780        790 
SIRRNKETNT VLARLNSELQ QQLKDVLEER ISLEVQLEQL RPFSHL
Length:796
Mass (Da):86,662
Last modified:November 3, 2009 - v3
<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:iFAD7A57ED6206922
GO
Isoform 2 (identifier: Q96D71-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     420-446: Missing.
     510-573: Missing.

Show »
Length:705
Mass (Da):76,838
Checksum:iC375BFF6E173C843
GO
Isoform 3 (identifier: Q96D71-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     510-510: Missing.

Show »
Length:795
Mass (Da):86,591
Checksum:i2D6D923DD16DF61C
GO
Isoform 4 (identifier: Q96D71-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     420-446: Missing.

Show »
Length:769
Mass (Da):83,650
Checksum:i9AC8680B338B86D2
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PMG1E9PMG1_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
737Annotation score:

Annotation score:2 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>
H0YDT0H0YDT0_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
754Annotation score:

Annotation score:2 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>
H7C1V2H7C1V2_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
147Annotation 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>
H7C225H7C225_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
102Annotation 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>
F2Z3L2F2Z3L2_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
220Annotation 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>
H0YCR2H0YCR2_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
152Annotation 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>
H0YE73H0YE73_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
146Annotation 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>
H0YCF0H0YCF0_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
121Annotation 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>
H0YE89H0YE89_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
61Annotation 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 AAH12764 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH21211 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAK34942 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti628A → V in AAK34942 (PubMed:11750063).Curated1
Sequence conflicti717V → I in CAD38569 (PubMed:17974005).Curated1
Sequence conflicti794 – 795SH → FP in AAH12764 (PubMed:15489334).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08063478V → L in NBIA7; primary fibroblasts from patients, who are compound heterozygous with E-113, show much higher intracellular iron content than fibroblasts from control individuals and abnormally elevated levels of transferrin receptor 1/TFRC at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs1554292444EnsemblClinVar.1
Natural variantiVAR_080635113A → E in NBIA7; primary fibroblasts from patients, who are compound heterozygous with L-78, show much higher intracellular iron content than fibroblasts from control individuals and abnormally elevated levels of transferrin receptor 1/TFRC at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs201191394EnsemblClinVar.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_007953420 – 446Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST27
Alternative sequenceiVSP_007954510 – 573Missing in isoform 2. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_007955510Missing in isoform 3. 1 Publication1

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
AL121834 Genomic DNA No translation available.
AL590308 Genomic DNA No translation available.
AL591033 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47904.1
CH471051 Genomic DNA Translation: EAW47906.1
CH471051 Genomic DNA Translation: EAW47907.1
BC012764 mRNA Translation: AAH12764.1 Different initiation.
BC021211 mRNA Translation: AAH21211.1 Different initiation.
DB263697 mRNA No translation available.
AF251052 mRNA Translation: AAK34942.1 Different initiation.
AL832307 mRNA No translation available.
AL831900 mRNA Translation: CAD38569.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47488.1 [Q96D71-4]
CCDS5193.2 [Q96D71-3]
CCDS69212.1 [Q96D71-2]
CCDS69213.1 [Q96D71-1]

NCBI Reference Sequences

More...RefSeqi		NP_001122089.1, NM_001128617.2 [Q96D71-4]
NP_001273540.1, NM_001286611.1 [Q96D71-1]
NP_001273541.1, NM_001286612.1 [Q96D71-2]
NP_114128.3, NM_031922.4 [Q96D71-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000258062; ENSP00000258062; ENSG00000135597 [Q96D71-3]
ENST00000367663; ENSP00000356635; ENSG00000135597 [Q96D71-4]
ENST00000409812; ENSP00000386699; ENSG00000135597 [Q96D71-2]
ENST00000450536; ENSP00000392065; ENSG00000135597 [Q96D71-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		85021

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:85021

UCSC genome browser

More...UCSCi		uc003qig.6, human [Q96D71-1]

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
AL121834 Genomic DNA No translation available.
AL590308 Genomic DNA No translation available.
AL591033 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47904.1
CH471051 Genomic DNA Translation: EAW47906.1
CH471051 Genomic DNA Translation: EAW47907.1
BC012764 mRNA Translation: AAH12764.1 Different initiation.
BC021211 mRNA Translation: AAH21211.1 Different initiation.
DB263697 mRNA No translation available.
AF251052 mRNA Translation: AAK34942.1 Different initiation.
AL832307 mRNA No translation available.
AL831900 mRNA Translation: CAD38569.1
CCDSiCCDS47488.1 [Q96D71-4]
CCDS5193.2 [Q96D71-3]
CCDS69212.1 [Q96D71-2]
CCDS69213.1 [Q96D71-1]
RefSeqiNP_001122089.1, NM_001128617.2 [Q96D71-4]
NP_001273540.1, NM_001286611.1 [Q96D71-1]
NP_001273541.1, NM_001286612.1 [Q96D71-2]
NP_114128.3, NM_031922.4 [Q96D71-3]

3D structure databases

BMRBiQ96D71
SMRiQ96D71
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi124433, 57 interactors
IntActiQ96D71, 42 interactors
MINTiQ96D71
STRINGi9606.ENSP00000392065

PTM databases

iPTMnetiQ96D71
PhosphoSitePlusiQ96D71

Genetic variation databases

BioMutaiREPS1
DMDMi262527572

Proteomic databases

EPDiQ96D71
jPOSTiQ96D71
MassIVEiQ96D71
MaxQBiQ96D71
PaxDbiQ96D71
PeptideAtlasiQ96D71
PRIDEiQ96D71
ProteomicsDBi76256 [Q96D71-1]
76257 [Q96D71-2]
76258 [Q96D71-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33064, 105 antibodies

The DNASU plasmid repository

More...DNASUi		85021

Genome annotation databases

EnsembliENST00000258062; ENSP00000258062; ENSG00000135597 [Q96D71-3]
ENST00000367663; ENSP00000356635; ENSG00000135597 [Q96D71-4]
ENST00000409812; ENSP00000386699; ENSG00000135597 [Q96D71-2]
ENST00000450536; ENSP00000392065; ENSG00000135597 [Q96D71-1]
GeneIDi85021
KEGGihsa:85021
UCSCiuc003qig.6, human [Q96D71-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		85021
DisGeNETi85021

GeneCards: human genes, protein and diseases

More...GeneCardsi		REPS1
HGNCiHGNC:15578, REPS1
HPAiENSG00000135597, Low tissue specificity
MalaCardsiREPS1
MIMi614825, gene
617916, phenotype
neXtProtiNX_Q96D71
OpenTargetsiENSG00000135597
PharmGKBiPA34329
VEuPathDBiHostDB:ENSG00000135597.18

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1955, Eukaryota
GeneTreeiENSGT00940000158749
InParanoidiQ96D71
OMAiHDTVQSR
PhylomeDBiQ96D71
TreeFamiTF316546

Enzyme and pathway databases

PathwayCommonsiQ96D71
ReactomeiR-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828, Clathrin-mediated endocytosis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		85021, 21 hits in 993 CRISPR screens

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

More...ChiTaRSi		REPS1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		REPS1

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

More...GenomeRNAii		85021
PharosiQ96D71, Tbio

Protein Ontology

More...PROi		PR:Q96D71
RNActiQ96D71, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000135597, Expressed in ventricular zone and 210 other tissues
ExpressionAtlasiQ96D71, baseline and differential
GenevisibleiQ96D71, HS

Family and domain databases

CDDicd00052, EH, 1 hit
InterProiView protein in InterPro
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
IPR000261, EH_dom
IPR026814, Reps1
PANTHERiPTHR11216:SF63, PTHR11216:SF63, 1 hit
PfamiView protein in Pfam
PF12763, EF-hand_4, 1 hit
SMARTiView protein in SMART
SM00027, EH, 2 hits
SUPFAMiSSF47473, SSF47473, 2 hits
PROSITEiView protein in PROSITE
PS00018, EF_HAND_1, 1 hit
PS50222, EF_HAND_2, 1 hit
PS50031, EH, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiREPS1_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: Q96D71
Secondary accession number(s): B7ZBZ8
, B7ZBZ9, B7ZC00, J3KP76, Q5JWJ5, Q5JWJ6, Q5JWJ7, Q8NDR7, Q8WU62, Q9BXY9
<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: August 15, 2003
Last sequence update: November 3, 2009
Last modified: April 7, 2021
This is version 180 of the entry and version 3 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 6
    Human chromosome 6: 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
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