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UniProtKB - Q96PL5 (ERMAP_HUMAN)

Entry version 155 (11 Dec 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Erythroid membrane-associated protein

Gene

ERMAP

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

Possible role as a cell-adhesion or receptor molecule of erythroid cells.

<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 functionBlood group antigen

<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:
Erythroid membrane-associated protein
Short name:
hERMAP
Alternative name(s):
Radin blood group antigen
Scianna blood group antigen
<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:ERMAP
Synonyms:RD, SC
<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 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_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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000164010.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:15743 ERMAP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609017 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96PL5

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

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini30 – 155ExtracellularSequence analysisAdd BLAST126
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei156 – 176HelicalSequence analysisAdd BLAST21
Topological domaini177 – 475CytoplasmicSequence analysisAdd BLAST299

Keywords - Cellular componenti

Cell membrane, Cytoplasm, 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

Organism-specific databases

MalaCards human disease database

More...MalaCardsi		ERMAP
MIMi111620 phenotype
111750 phenotype

Open Targets

More...OpenTargetsi		ENSG00000164010

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27860

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96PL5 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ERMAP

Domain mapping of disease mutations (DMDM)

More...DMDMi		74761033

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 29Sequence analysisAdd BLAST29
<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_000022608830 – 475Erythroid membrane-associated proteinAdd BLAST446

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi50 ↔ 126PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi132N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei418PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Glycosylated.

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96PL5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96PL5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96PL5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96PL5

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

More...PaxDbi		Q96PL5

PeptideAtlas

More...PeptideAtlasi		Q96PL5

PRoteomics IDEntifications database

More...PRIDEi		Q96PL5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		77708

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96PL5

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

More...PhosphoSitePlusi		Q96PL5

<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 erythroid-enriched bone marrow (at protein level). Highly expressed in bone marrow and to a lower extent in leukocytes, thymus, lymph node and spleen.2 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal liver blood cells (at protein level). Highly expressed in fetal liver.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000164010 Expressed in 159 organ(s), highest expression level in liver

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96PL5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96PL5 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA042573
HPA054672

<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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		125328, 14 interactors

Protein interaction database and analysis system

More...IntActi		Q96PL5, 16 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000361595

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96PL5 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		Q96PL5

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_and_domains_section">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>Domaini30 – 140Ig-like V-typeAdd BLAST111
Domaini220 – 418B30.2/SPRYPROSITE-ProRule annotationAdd BLAST199

<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 immunoglobulin superfamily. BTN/MOG family.Curated

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2177 Eukaryota
ENOG4111G04 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160531

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96PL5

KEGG Orthology (KO)

More...KOi		K06712

Identification of Orthologs from Complete Genome Data

More...OMAi		QVMEVEN

Database of Orthologous Groups

More...OrthoDBi		522383at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96PL5

TreeFam database of animal gene trees

More...TreeFami		TF317532

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001870 B30.2/SPRY
IPR003879 Butyrophylin_SPRY
IPR013320 ConA-like_dom_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR013106 Ig_V-set
IPR006574 PRY
IPR003877 SPRY_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13765 PRY, 1 hit
PF00622 SPRY, 1 hit
PF07686 V-set, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01407 BUTYPHLNCDUF

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00409 IG, 1 hit
SM00406 IGv, 1 hit
SM00589 PRY, 1 hit
SM00449 SPRY, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48726 SSF48726, 1 hit
SSF49899 SSF49899, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50188 B302_SPRY, 1 hit
PS50835 IG_LIKE, 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>Sequence (1+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q96PL5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEMASSAGSW LSGCLIPLVF LRLSVHVSGH AGDAGKFHVA LLGGTAELLC 
        60         70         80         90        100
PLSLWPGTVP KEVRWLRSPF PQRSQAVHIF RDGKDQDEDL MPEYKGRTVL 
       110        120        130        140        150
VRDAQEGSVT LQILDVRLED QGSYRCLIQV GNLSKEDTVI LQVAAPSVGS 
       160        170        180        190        200
LSPSAVALAV ILPVLVLLIM VCLCLIWKQR RAKEKLLYEH VTEVDNLLSD 
       210        220        230        240        250
HAKEKGKLHK AVKKLRSELK LKRAAANSGW RRARLHFVAV TLDPDTAHPK 
       260        270        280        290        300
LILSEDQRCV RLGDRRQPVP DNPQRFDFVV SILGSEYFTT GCHYWEVYVG 
       310        320        330        340        350
DKTKWILGVC SESVSRKGKV TASPANGHWL LRQSRGNEYE ALTSPQTSFR 
       360        370        380        390        400
LKEPPRCVGI FLDYEAGVIS FYNVTNKSHI FTFTHNFSGP LRPFFEPCLH 
       410        420        430        440        450
DGGKNTAPLV ICSELHKSEE SIVPRPEGKG HANGDVSLKV NSSLLPPKAP 
       460        470 
ELKDIILSLP PDLGPALQEL KAPSF
Length:475
Mass (Da):52,605
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD796B0951EA02E0F
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YH65A0A2R8YH65_HUMAN
Erythroid membrane-associated prote...
ERMAP
17Annotation score:

Annotation score:1 out of 5

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti452L → P in CAD97613 (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

ERMAP is responsible for the Scianna/Radin blood group system which comprises seven different antigens (PubMed:12393480). The Sc1 and Sc2 antigens are resulting from a single variation in position 57; Arg-57 corresponds to the Sc2 antigen and Gly-57 to the Sc1 antigen. The Sc2 antigen is rare with an occurrence of less than 1% in the population while Sc1 is more frequent. Sc3 is not expressed by individuals homozygous for a null allele encoding a truncated protein lacking its extracellular part (Sc-3). The Sc4 antigen corresponding to the previously defined Radin blood group antigen (Rd) is due to a single variation in position 60; Ala-60 corresponds to Sc4/Rd+, the antigenic form of the protein. Sc4 is found in less than 1% of the population. Sc5/STAR, Sc6/SCER and Sc7/SCAN antigens are due to single variations in positions 47, 81 and 35 respectively. Alloantibodies to the low frequency Sc2 and Sc4 antigens are the cause of hemolytic disease in the newborn (PubMed:15660834, PubMed:16371048).3 Publications

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_0254784A → V1 PublicationCorresponds to variant dbSNP:rs35757049Ensembl.1
Natural variantiVAR_02547926H → Y2 PublicationsCorresponds to variant dbSNP:rs33953680Ensembl.1
Natural variantiVAR_02548035G → S in Sc7 antigen. 1 PublicationCorresponds to variant dbSNP:rs146429994Ensembl.1
Natural variantiVAR_02548147E → K in Sc5 antigen. 1 PublicationCorresponds to variant dbSNP:rs56047316EnsemblClinVar.1
Natural variantiVAR_02548257G → R in Sc2 antigen. 1 PublicationCorresponds to variant dbSNP:rs56025238EnsemblClinVar.1
Natural variantiVAR_02548360P → A in Sc4 antigen. 1 PublicationCorresponds to variant dbSNP:rs56136737EnsemblClinVar.1
Natural variantiVAR_02548481R → Q in Sc6 antigen. 1 PublicationCorresponds to variant dbSNP:rs368064875Ensembl.1
Natural variantiVAR_025485103 – 113DAQEGSVTLQI → CPRGKCHSADP in Sc-3 allele. Add BLAST11
Natural variantiVAR_025486114 – 475Missing in Sc-3 allele. Add BLAST362
Natural variantiVAR_025487259C → R1 PublicationCorresponds to variant dbSNP:rs35147822Ensembl.1
Natural variantiVAR_025488263G → E1 PublicationCorresponds to variant dbSNP:rs34441268Ensembl.1

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
AY049028 mRNA Translation: AAL11456.1
AF311284 mRNA Translation: AAL08411.1
AF311285 mRNA Translation: AAL08412.1
AJ505028 Genomic DNA Translation: CAD43739.1
AJ505036 AJ505042 Genomic DNA Translation: CAD43740.1
AJ505044 AJ505050 Genomic DNA Translation: CAD43741.1
BX537371 mRNA Translation: CAD97613.2
DQ090843 Genomic DNA Translation: AAY88736.1
AL512353 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07130.1
CH471059 Genomic DNA Translation: EAX07133.1
BC099703 mRNA Translation: AAH99703.1
BC099707 mRNA Translation: AAH99707.1
BC099712 mRNA Translation: AAH99712.1
BC099713 mRNA Translation: AAH99713.1
AY644424 Genomic DNA Translation: AAT66409.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS475.1

NCBI Reference Sequences

More...RefSeqi		NP_001017922.1, NM_001017922.1
NP_061008.2, NM_018538.3
XP_006710376.1, XM_006710313.3
XP_011538872.1, XM_011540570.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000372514; ENSP00000361592; ENSG00000164010
ENST00000372517; ENSP00000361595; ENSG00000164010

Database of genes from NCBI RefSeq genomes

More...GeneIDi		114625

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:114625

UCSC genome browser

More...UCSCi		uc001cic.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

dbRBC/BGMUT

Blood group antigen gene mutation database

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY049028 mRNA Translation: AAL11456.1
AF311284 mRNA Translation: AAL08411.1
AF311285 mRNA Translation: AAL08412.1
AJ505028 Genomic DNA Translation: CAD43739.1
AJ505036 AJ505042 Genomic DNA Translation: CAD43740.1
AJ505044 AJ505050 Genomic DNA Translation: CAD43741.1
BX537371 mRNA Translation: CAD97613.2
DQ090843 Genomic DNA Translation: AAY88736.1
AL512353 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07130.1
CH471059 Genomic DNA Translation: EAX07133.1
BC099703 mRNA Translation: AAH99703.1
BC099707 mRNA Translation: AAH99707.1
BC099712 mRNA Translation: AAH99712.1
BC099713 mRNA Translation: AAH99713.1
AY644424 Genomic DNA Translation: AAT66409.1
CCDSiCCDS475.1
RefSeqiNP_001017922.1, NM_001017922.1
NP_061008.2, NM_018538.3
XP_006710376.1, XM_006710313.3
XP_011538872.1, XM_011540570.2

3D structure databases

SMRiQ96PL5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi125328, 14 interactors
IntActiQ96PL5, 16 interactors
STRINGi9606.ENSP00000361595

PTM databases

iPTMnetiQ96PL5
PhosphoSitePlusiQ96PL5

Polymorphism and mutation databases

BioMutaiERMAP
DMDMi74761033

Proteomic databases

EPDiQ96PL5
jPOSTiQ96PL5
MassIVEiQ96PL5
MaxQBiQ96PL5
PaxDbiQ96PL5
PeptideAtlasiQ96PL5
PRIDEiQ96PL5
ProteomicsDBi77708

Genome annotation databases

EnsembliENST00000372514; ENSP00000361592; ENSG00000164010
ENST00000372517; ENSP00000361595; ENSG00000164010
GeneIDi114625
KEGGihsa:114625
UCSCiuc001cic.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		114625
EuPathDBiHostDB:ENSG00000164010.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		ERMAP
HGNCiHGNC:15743 ERMAP
HPAiHPA042573
HPA054672
MalaCardsiERMAP
MIMi111620 phenotype
111750 phenotype
609017 gene
neXtProtiNX_Q96PL5
OpenTargetsiENSG00000164010
PharmGKBiPA27860

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2177 Eukaryota
ENOG4111G04 LUCA
GeneTreeiENSGT00940000160531
InParanoidiQ96PL5
KOiK06712
OMAiQVMEVEN
OrthoDBi522383at2759
PhylomeDBiQ96PL5
TreeFamiTF317532

Miscellaneous databases

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

More...ChiTaRSi		ERMAP human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ERMAP

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

More...GenomeRNAii		114625
PharosiQ96PL5 Tbio

Protein Ontology

More...PROi		PR:Q96PL5
RNActiQ96PL5 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000164010 Expressed in 159 organ(s), highest expression level in liver
ExpressionAtlasiQ96PL5 baseline and differential
GenevisibleiQ96PL5 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR001870 B30.2/SPRY
IPR003879 Butyrophylin_SPRY
IPR013320 ConA-like_dom_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR013106 Ig_V-set
IPR006574 PRY
IPR003877 SPRY_dom
PfamiView protein in Pfam
PF13765 PRY, 1 hit
PF00622 SPRY, 1 hit
PF07686 V-set, 1 hit
PRINTSiPR01407 BUTYPHLNCDUF
SMARTiView protein in SMART
SM00409 IG, 1 hit
SM00406 IGv, 1 hit
SM00589 PRY, 1 hit
SM00449 SPRY, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
SSF49899 SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50188 B302_SPRY, 1 hit
PS50835 IG_LIKE, 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 nameiERMAP_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: Q96PL5
Secondary accession number(s): D3DPW8
, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL6
<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: March 7, 2006
Last sequence update: December 1, 2001
Last modified: December 11, 2019
This is version 155 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
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