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Protein

Erythroid membrane-associated protein

Gene

ERMAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Keywordsi

Molecular functionBlood group antigen

Names & Taxonomyi

Protein namesi
Recommended name:
Erythroid membrane-associated protein
Short name:
hERMAP
Alternative name(s):
Radin blood group antigen
Scianna blood group antigen
Gene namesi
Name:ERMAP
Synonyms:RD, SC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000164010.13
HGNCiHGNC:15743 ERMAP
MIMi609017 gene
neXtProtiNX_Q96PL5

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini30 – 155ExtracellularSequence analysisAdd BLAST126
Transmembranei156 – 176HelicalSequence analysisAdd BLAST21
Topological domaini177 – 475CytoplasmicSequence analysisAdd BLAST299

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

MalaCardsiERMAP
MIMi111620 phenotype
111750 phenotype
OpenTargetsiENSG00000164010
PharmGKBiPA27860

Polymorphism and mutation databases

BioMutaiERMAP
DMDMi74761033

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Sequence analysisAdd BLAST29
ChainiPRO_000022608830 – 475Erythroid membrane-associated proteinAdd BLAST446

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi50 ↔ 126PROSITE-ProRule annotation
Glycosylationi132N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei418PhosphoserineBy similarity1

Post-translational modificationi

Glycosylated.

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ96PL5
MaxQBiQ96PL5
PaxDbiQ96PL5
PeptideAtlasiQ96PL5
PRIDEiQ96PL5
ProteomicsDBi77708

PTM databases

iPTMnetiQ96PL5
PhosphoSitePlusiQ96PL5

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

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

Organism-specific databases

HPAiHPA042573

Interactioni

Protein-protein interaction databases

BioGridi125328, 14 interactors
IntActiQ96PL5, 2 interactors
STRINGi9606.ENSP00000361592

Structurei

3D structure databases

ProteinModelPortaliQ96PL5
SMRiQ96PL5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 140Ig-like V-typeAdd BLAST111
Domaini220 – 418B30.2/SPRYPROSITE-ProRule annotationAdd BLAST199

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2177 Eukaryota
ENOG4111G04 LUCA
GeneTreeiENSGT00760000118933
HOVERGENiHBG050747
InParanoidiQ96PL5
KOiK06712
OMAiCHYWEVY
OrthoDBiEOG091G09GC
PhylomeDBiQ96PL5
TreeFamiTF317532

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

Sequence (1+)i

Sequence statusi: Complete.

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
Checksum:iD796B0951EA02E0F
GO

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:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti452L → P in CAD97613 (PubMed:17974005).Curated1

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
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:
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
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
UniGeneiHs.439437

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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
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
UniGeneiHs.439437

3D structure databases

ProteinModelPortaliQ96PL5
SMRiQ96PL5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125328, 14 interactors
IntActiQ96PL5, 2 interactors
STRINGi9606.ENSP00000361592

PTM databases

iPTMnetiQ96PL5
PhosphoSitePlusiQ96PL5

Polymorphism and mutation databases

BioMutaiERMAP
DMDMi74761033

Proteomic databases

EPDiQ96PL5
MaxQBiQ96PL5
PaxDbiQ96PL5
PeptideAtlasiQ96PL5
PRIDEiQ96PL5
ProteomicsDBi77708

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi114625
EuPathDBiHostDB:ENSG00000164010.13
GeneCardsiERMAP
HGNCiHGNC:15743 ERMAP
HPAiHPA042573
MalaCardsiERMAP
MIMi111620 phenotype
111750 phenotype
609017 gene
neXtProtiNX_Q96PL5
OpenTargetsiENSG00000164010
PharmGKBiPA27860
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2177 Eukaryota
ENOG4111G04 LUCA
GeneTreeiENSGT00760000118933
HOVERGENiHBG050747
InParanoidiQ96PL5
KOiK06712
OMAiCHYWEVY
OrthoDBiEOG091G09GC
PhylomeDBiQ96PL5
TreeFamiTF317532

Miscellaneous databases

GeneWikiiERMAP
GenomeRNAii114625
PROiPR:Q96PL5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164010 Expressed in 159 organ(s), highest expression level in liver
CleanExiHS_ERMAP
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
ProtoNetiSearch...

Entry informationi

Entry nameiERMAP_HUMAN
AccessioniPrimary (citable) accession number: Q96PL5
Secondary accession number(s): D3DPW8
, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 145 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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