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UniProtKB - Q96PL5 (ERMAP_HUMAN)
Protein
Erythroid membrane-associated protein
Gene
ERMAP
Organism
Homo sapiens (Human)
Status
Functioni
Possible role as a cell-adhesion or receptor molecule of erythroid cells.
GO - Molecular functioni
- signaling receptor binding Source: GO_Central
GO - Biological processi
- regulation of cytokine production Source: GO_Central
- T cell receptor signaling pathway Source: GO_Central
Keywordsi
Molecular function | Blood group antigen |
Enzyme and pathway databases
PathwayCommonsi | Q96PL5 |
SignaLinki | Q96PL5 |
SIGNORi | Q96PL5 |
Names & Taxonomyi
Protein namesi | Recommended name: Erythroid membrane-associated proteinShort name: hERMAP Alternative name(s): Radin blood group antigen Scianna blood group antigen |
Gene namesi | Name:ERMAP Synonyms:RD, SC |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15743, ERMAP |
MIMi | 609017, gene |
neXtProti | NX_Q96PL5 |
VEuPathDBi | HostDB:ENSG00000164010 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Plasma membrane
- Cell membrane 1 Publication; Single-pass type I membrane protein Sequence analysis
Cytosol
- cytosol Source: HPA
Golgi apparatus
- Golgi apparatus Source: HPA
Plasma Membrane
- external side of plasma membrane Source: GO_Central
- plasma membrane Source: MGI
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 30 – 155 | ExtracellularSequence analysisAdd BLAST | 126 | |
Transmembranei | 156 – 176 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 177 – 475 | CytoplasmicSequence analysisAdd BLAST | 299 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 114625 |
MalaCardsi | ERMAP |
MIMi | 111620, phenotype 111750, phenotype |
OpenTargetsi | ENSG00000164010 |
PharmGKBi | PA27860 |
Miscellaneous databases
Pharosi | Q96PL5, Tbio |
Genetic variation databases
BioMutai | ERMAP |
DMDMi | 74761033 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 29 | Sequence analysisAdd BLAST | 29 | |
ChainiPRO_0000226088 | 30 – 475 | Erythroid membrane-associated proteinAdd BLAST | 446 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 50 ↔ 126 | PROSITE-ProRule annotation | ||
Glycosylationi | 132 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 418 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Glycosylated.
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q96PL5 |
jPOSTi | Q96PL5 |
MassIVEi | Q96PL5 |
MaxQBi | Q96PL5 |
PaxDbi | Q96PL5 |
PeptideAtlasi | Q96PL5 |
PRIDEi | Q96PL5 |
ProteomicsDBi | 77708 |
PTM databases
GlyGeni | Q96PL5, 1 site |
iPTMneti | Q96PL5 |
PhosphoSitePlusi | Q96PL5 |
Expressioni
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
Developmental stagei
Expressed in fetal liver blood cells (at protein level). Highly expressed in fetal liver.2 Publications
Gene expression databases
Bgeei | ENSG00000164010, Expressed in liver and 179 other tissues |
ExpressionAtlasi | Q96PL5, baseline and differential |
Genevisiblei | Q96PL5, HS |
Organism-specific databases
HPAi | ENSG00000164010, Low tissue specificity |
Interactioni
Binary interactionsi
Q96PL5
With | #Exp. | IntAct |
---|---|---|
EMD [P50402] | 3 | EBI-13361852,EBI-489887 |
KRTAP3-3 [Q9BYR6] | 3 | EBI-13361852,EBI-3957694 |
LEMD1 [Q68G75] | 3 | EBI-13361852,EBI-12268900 |
TMEM14A [Q9Y6G1] | 3 | EBI-13361852,EBI-2800360 |
GO - Molecular functioni
- signaling receptor binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 125328, 25 interactors |
IntActi | Q96PL5, 18 interactors |
STRINGi | 9606.ENSP00000361595 |
Miscellaneous databases
RNActi | Q96PL5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 30 – 140 | Ig-like V-typeAdd BLAST | 111 | |
Domaini | 220 – 418 | B30.2/SPRYPROSITE-ProRule annotationAdd BLAST | 199 |
Sequence similaritiesi
Keywords - Domaini
Immunoglobulin domain, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2177, Eukaryota |
GeneTreei | ENSGT00940000160531 |
InParanoidi | Q96PL5 |
OMAi | QVMEVEN |
OrthoDBi | 522383at2759 |
PhylomeDBi | Q96PL5 |
TreeFami | TF317532 |
Family and domain databases
Gene3Di | 2.60.120.920, 1 hit 2.60.40.10, 1 hit |
InterProi | View protein in InterPro IPR001870, B30.2/SPRY IPR043136, B30.2/SPRY_sf 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 |
Pfami | View protein in Pfam PF13765, PRY, 1 hit PF00622, SPRY, 1 hit PF07686, V-set, 1 hit |
PRINTSi | PR01407, BUTYPHLNCDUF |
SMARTi | View protein in SMART SM00409, IG, 1 hit SM00406, IGv, 1 hit SM00589, PRY, 1 hit SM00449, SPRY, 1 hit |
SUPFAMi | SSF48726, SSF48726, 1 hit SSF49899, SSF49899, 1 hit |
PROSITEi | View protein in PROSITE PS50188, B302_SPRY, 1 hit PS50835, IG_LIKE, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q96PL5-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8YH65 | A0A2R8YH65_HUMAN | Erythroid membrane-associated prote... | ERMAP | 17 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 452 | L → P in CAD97613 (PubMed:17974005).Curated | 1 |
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025478 | 4 | A → V1 PublicationCorresponds to variant dbSNP:rs35757049EnsemblClinVar. | 1 | |
Natural variantiVAR_025479 | 26 | H → Y2 PublicationsCorresponds to variant dbSNP:rs33953680Ensembl. | 1 | |
Natural variantiVAR_025480 | 35 | G → S in Sc7 antigen. 1 PublicationCorresponds to variant dbSNP:rs146429994Ensembl. | 1 | |
Natural variantiVAR_025481 | 47 | E → K in Sc5 antigen. 1 PublicationCorresponds to variant dbSNP:rs56047316EnsemblClinVar. | 1 | |
Natural variantiVAR_025482 | 57 | G → R in Sc2 antigen. 1 PublicationCorresponds to variant dbSNP:rs56025238EnsemblClinVar. | 1 | |
Natural variantiVAR_025483 | 60 | P → A in Sc4 antigen. 1 PublicationCorresponds to variant dbSNP:rs56136737EnsemblClinVar. | 1 | |
Natural variantiVAR_025484 | 81 | R → Q in Sc6 antigen. 1 PublicationCorresponds to variant dbSNP:rs368064875Ensembl. | 1 | |
Natural variantiVAR_025485 | 103 – 113 | DAQEGSVTLQI → CPRGKCHSADP in Sc-3 allele. Add BLAST | 11 | |
Natural variantiVAR_025486 | 114 – 475 | Missing in Sc-3 allele. Add BLAST | 362 | |
Natural variantiVAR_025487 | 259 | C → R1 PublicationCorresponds to variant dbSNP:rs35147822Ensembl. | 1 | |
Natural variantiVAR_025488 | 263 | G → E1 PublicationCorresponds to variant dbSNP:rs34441268Ensembl. | 1 |
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 , AJ505037, AJ505038, AJ505039, AJ505040, AJ505041, AJ505042 Genomic DNA Translation: CAD43740.1 AJ505044 , AJ505045, AJ505046, AJ505047, AJ505048, AJ505049, 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 |
CCDSi | CCDS475.1 |
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
Ensembli | ENST00000372514; ENSP00000361592; ENSG00000164010 ENST00000372517; ENSP00000361595; ENSG00000164010 |
GeneIDi | 114625 |
KEGGi | hsa:114625 |
MANE-Selecti | ENST00000372517.8; ENSP00000361595.2; NM_001017922.2; NP_001017922.1 |
UCSCi | uc001cic.2, human |
Similar proteinsi
Cross-referencesi
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 , AJ505037, AJ505038, AJ505039, AJ505040, AJ505041, AJ505042 Genomic DNA Translation: CAD43740.1 AJ505044 , AJ505045, AJ505046, AJ505047, AJ505048, AJ505049, 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 |
CCDSi | CCDS475.1 |
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 |
3D structure databases
SMRi | Q96PL5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125328, 25 interactors |
IntActi | Q96PL5, 18 interactors |
STRINGi | 9606.ENSP00000361595 |
PTM databases
GlyGeni | Q96PL5, 1 site |
iPTMneti | Q96PL5 |
PhosphoSitePlusi | Q96PL5 |
Genetic variation databases
BioMutai | ERMAP |
DMDMi | 74761033 |
Proteomic databases
EPDi | Q96PL5 |
jPOSTi | Q96PL5 |
MassIVEi | Q96PL5 |
MaxQBi | Q96PL5 |
PaxDbi | Q96PL5 |
PeptideAtlasi | Q96PL5 |
PRIDEi | Q96PL5 |
ProteomicsDBi | 77708 |
Protocols and materials databases
Antibodypediai | 18175, 321 antibodies from 28 providers |
DNASUi | 114625 |
Genome annotation databases
Ensembli | ENST00000372514; ENSP00000361592; ENSG00000164010 ENST00000372517; ENSP00000361595; ENSG00000164010 |
GeneIDi | 114625 |
KEGGi | hsa:114625 |
MANE-Selecti | ENST00000372517.8; ENSP00000361595.2; NM_001017922.2; NP_001017922.1 |
UCSCi | uc001cic.2, human |
Organism-specific databases
CTDi | 114625 |
DisGeNETi | 114625 |
GeneCardsi | ERMAP |
HGNCi | HGNC:15743, ERMAP |
HPAi | ENSG00000164010, Low tissue specificity |
MalaCardsi | ERMAP |
MIMi | 111620, phenotype 111750, phenotype 609017, gene |
neXtProti | NX_Q96PL5 |
OpenTargetsi | ENSG00000164010 |
PharmGKBi | PA27860 |
VEuPathDBi | HostDB:ENSG00000164010 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2177, Eukaryota |
GeneTreei | ENSGT00940000160531 |
InParanoidi | Q96PL5 |
OMAi | QVMEVEN |
OrthoDBi | 522383at2759 |
PhylomeDBi | Q96PL5 |
TreeFami | TF317532 |
Enzyme and pathway databases
PathwayCommonsi | Q96PL5 |
SignaLinki | Q96PL5 |
SIGNORi | Q96PL5 |
Miscellaneous databases
BioGRID-ORCSi | 114625, 8 hits in 1045 CRISPR screens |
ChiTaRSi | ERMAP, human |
GeneWikii | ERMAP |
GenomeRNAii | 114625 |
Pharosi | Q96PL5, Tbio |
PROi | PR:Q96PL5 |
RNActi | Q96PL5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000164010, Expressed in liver and 179 other tissues |
ExpressionAtlasi | Q96PL5, baseline and differential |
Genevisiblei | Q96PL5, HS |
Family and domain databases
Gene3Di | 2.60.120.920, 1 hit 2.60.40.10, 1 hit |
InterProi | View protein in InterPro IPR001870, B30.2/SPRY IPR043136, B30.2/SPRY_sf 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 |
Pfami | View protein in Pfam PF13765, PRY, 1 hit PF00622, SPRY, 1 hit PF07686, V-set, 1 hit |
PRINTSi | PR01407, BUTYPHLNCDUF |
SMARTi | View protein in SMART SM00409, IG, 1 hit SM00406, IGv, 1 hit SM00589, PRY, 1 hit SM00449, SPRY, 1 hit |
SUPFAMi | SSF48726, SSF48726, 1 hit SSF49899, SSF49899, 1 hit |
PROSITEi | View protein in PROSITE PS50188, B302_SPRY, 1 hit PS50835, IG_LIKE, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ERMAP_HUMAN | |
Accessioni | Q96PL5Primary (citable) accession number: Q96PL5 Secondary accession number(s): D3DPW8 Q96PL6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 7, 2006 |
Last sequence update: | December 1, 2001 | |
Last modified: | February 23, 2022 | |
This is version 166 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Blood group antigen proteins
Nomenclature of blood group antigens and list of entries - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families