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Q96PL5

- ERMAP_HUMAN

UniProt

Q96PL5 - ERMAP_HUMAN

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Protein
Erythroid membrane-associated protein
Gene
ERMAP, RD, SC
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

Keywords - Molecular functioni

Blood 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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:15743. ERMAP.

Subcellular locationi

Cell membrane; Single-pass type I membrane protein. Cytoplasm 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini30 – 155126Extracellular Reviewed prediction
Add
BLAST
Transmembranei156 – 17621Helical; Reviewed prediction
Add
BLAST
Topological domaini177 – 475299Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. cytoplasmic vesicle Source: Ensembl
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

MIMi111620. phenotype.
111750. phenotype.
PharmGKBiPA27860.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2929 Reviewed prediction
Add
BLAST
Chaini30 – 475446Erythroid membrane-associated protein
PRO_0000226088Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi50 ↔ 126 By similarity
Glycosylationi132 – 1321N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

Glycosylated.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ96PL5.
PaxDbiQ96PL5.
PRIDEiQ96PL5.

PTM databases

PhosphoSiteiQ96PL5.

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

ArrayExpressiQ96PL5.
BgeeiQ96PL5.
CleanExiHS_ERMAP.
GenevestigatoriQ96PL5.

Organism-specific databases

HPAiHPA042573.

Interactioni

Protein-protein interaction databases

BioGridi125328. 2 interactions.
STRINGi9606.ENSP00000361592.

Structurei

3D structure databases

ProteinModelPortaliQ96PL5.
SMRiQ96PL5. Positions 40-146, 233-412.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini30 – 140111Ig-like V-type
Add
BLAST
Domaini220 – 418199B30.2/SPRY
Add
BLAST

Sequence similaritiesi

Contains 1 B30.2/SPRY domain.

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG320971.
HOVERGENiHBG050747.
InParanoidiQ96PL5.
KOiK06712.
OMAiCLIWKQR.
OrthoDBiEOG7PCJGJ.
PhylomeDBiQ96PL5.
TreeFamiTF317532.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR001870. B30.2/SPRY.
IPR003879. Butyrophylin.
IPR008985. ConA-like_lec_gl_sf.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
IPR006574. PRY.
IPR018355. SPla/RYanodine_receptor_subgr.
IPR003877. SPRY_rcpt.
[Graphical view]
PfamiPF13765. PRY. 1 hit.
PF00622. SPRY. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
PRINTSiPR01407. BUTYPHLNCDUF.
SMARTiSM00409. IG. 1 hit.
SM00589. PRY. 1 hit.
SM00449. SPRY. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS50188. B302_SPRY. 1 hit.
PS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q96PL5-1 [UniParc]FASTAAdd to Basket

« Hide

MEMASSAGSW LSGCLIPLVF LRLSVHVSGH AGDAGKFHVA LLGGTAELLC    50
PLSLWPGTVP KEVRWLRSPF PQRSQAVHIF RDGKDQDEDL MPEYKGRTVL 100
VRDAQEGSVT LQILDVRLED QGSYRCLIQV GNLSKEDTVI LQVAAPSVGS 150
LSPSAVALAV ILPVLVLLIM VCLCLIWKQR RAKEKLLYEH VTEVDNLLSD 200
HAKEKGKLHK AVKKLRSELK LKRAAANSGW RRARLHFVAV TLDPDTAHPK 250
LILSEDQRCV RLGDRRQPVP DNPQRFDFVV SILGSEYFTT GCHYWEVYVG 300
DKTKWILGVC SESVSRKGKV TASPANGHWL LRQSRGNEYE ALTSPQTSFR 350
LKEPPRCVGI FLDYEAGVIS FYNVTNKSHI FTFTHNFSGP LRPFFEPCLH 400
DGGKNTAPLV ICSELHKSEE SIVPRPEGKG HANGDVSLKV NSSLLPPKAP 450
ELKDIILSLP PDLGPALQEL KAPSF 475
Length:475
Mass (Da):52,605
Last modified:December 1, 2001 - v1
Checksum:iD796B0951EA02E0F
GO

Sequence cautioni

The sequence CAH72716.1 differs from that shown. Reason: Erroneous gene model prediction.

Polymorphismi

ERMAP is responsible for the Scianna/Radin blood group system which comprises seven different antigens. 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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41A → V.1 Publication
Corresponds to variant rs35757049 [ dbSNP | Ensembl ].
VAR_025478
Natural varianti26 – 261H → Y.2 Publications
Corresponds to variant rs33953680 [ dbSNP | Ensembl ].
VAR_025479
Natural varianti35 – 351G → S in Sc7 antigen. 1 Publication
Corresponds to variant rs146429994 [ dbSNP | Ensembl ].
VAR_025480
Natural varianti47 – 471E → K in Sc5 antigen. 1 Publication
Corresponds to variant rs56047316 [ dbSNP | Ensembl ].
VAR_025481
Natural varianti57 – 571G → R in Sc2 antigen. 1 Publication
Corresponds to variant rs56025238 [ dbSNP | Ensembl ].
VAR_025482
Natural varianti60 – 601P → A in Sc4 antigen. 1 Publication
Corresponds to variant rs56136737 [ dbSNP | Ensembl ].
VAR_025483
Natural varianti81 – 811R → Q in Sc6 antigen. 1 Publication
VAR_025484
Natural varianti103 – 11311DAQEGSVTLQI → CPRGKCHSADP in Sc-3 allele.
VAR_025485Add
BLAST
Natural varianti114 – 475362Missing in Sc-3 allele.
VAR_025486Add
BLAST
Natural varianti259 – 2591C → R.1 Publication
Corresponds to variant rs35147822 [ dbSNP | Ensembl ].
VAR_025487
Natural varianti263 – 2631G → E.1 Publication
Corresponds to variant rs34441268 [ dbSNP | Ensembl ].
VAR_025488

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti452 – 4521L → P in CAD97613. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Translation: CAH72715.1.
AL512353 Genomic DNA. Translation: CAH72716.1. Sequence problems.
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_006710313.1.
UniGeneiHs.439437.

Genome annotation databases

EnsembliENST00000372514; ENSP00000361592; ENSG00000164010.
ENST00000372517; ENSP00000361595; ENSG00000164010.
GeneIDi114625.
KEGGihsa:114625.
UCSCiuc001cic.1. human.

Polymorphism databases

DMDMi74761033.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

dbRBC/BGMUT

Blood group antigen gene mutation database

SeattleSNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Translation: CAH72715.1 .
AL512353 Genomic DNA. Translation: CAH72716.1 . Sequence problems.
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_006710313.1.
UniGenei Hs.439437.

3D structure databases

ProteinModelPortali Q96PL5.
SMRi Q96PL5. Positions 40-146, 233-412.
ModBasei Search...

Protein-protein interaction databases

BioGridi 125328. 2 interactions.
STRINGi 9606.ENSP00000361592.

PTM databases

PhosphoSitei Q96PL5.

Polymorphism databases

DMDMi 74761033.

Proteomic databases

MaxQBi Q96PL5.
PaxDbi Q96PL5.
PRIDEi Q96PL5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372514 ; ENSP00000361592 ; ENSG00000164010 .
ENST00000372517 ; ENSP00000361595 ; ENSG00000164010 .
GeneIDi 114625.
KEGGi hsa:114625.
UCSCi uc001cic.1. human.

Organism-specific databases

CTDi 114625.
GeneCardsi GC01P043256.
HGNCi HGNC:15743. ERMAP.
HPAi HPA042573.
MIMi 111620. phenotype.
111750. phenotype.
609017. gene.
neXtProti NX_Q96PL5.
PharmGKBi PA27860.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG320971.
HOVERGENi HBG050747.
InParanoidi Q96PL5.
KOi K06712.
OMAi CLIWKQR.
OrthoDBi EOG7PCJGJ.
PhylomeDBi Q96PL5.
TreeFami TF317532.

Miscellaneous databases

GeneWikii ERMAP.
GenomeRNAii 114625.
NextBioi 79109.
PROi Q96PL5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96PL5.
Bgeei Q96PL5.
CleanExi HS_ERMAP.
Genevestigatori Q96PL5.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR001870. B30.2/SPRY.
IPR003879. Butyrophylin.
IPR008985. ConA-like_lec_gl_sf.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
IPR006574. PRY.
IPR018355. SPla/RYanodine_receptor_subgr.
IPR003877. SPRY_rcpt.
[Graphical view ]
Pfami PF13765. PRY. 1 hit.
PF00622. SPRY. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view ]
PRINTSi PR01407. BUTYPHLNCDUF.
SMARTi SM00409. IG. 1 hit.
SM00589. PRY. 1 hit.
SM00449. SPRY. 1 hit.
[Graphical view ]
SUPFAMi SSF49899. SSF49899. 1 hit.
PROSITEi PS50188. B302_SPRY. 1 hit.
PS50835. IG_LIKE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human ERMAP: an erythroid adhesion/receptor transmembrane protein."
    Su Y.-Y., Gordon C.T., Ye T.-Z., Perkins A.C., Chui D.H.K.
    Blood Cells Mol. Dis. 27:938-949(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, SUBCELLULAR LOCATION.
    Tissue: Fetal liver.
  2. "Cloning and characterization of human erythroid membrane-associated protein, human ERMAP."
    Xu H., Foltz L., Sha Y., Madlansacay M.R., Cain C., Lindemann G., Vargas J., Nagy D., Harriman B., Mahoney W., Schueler P.A.
    Genomics 76:2-4(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, SUBCELLULAR LOCATION.
    Tissue: Fetal liver.
  3. "Scianna antigens including Rd are expressed by ERMAP."
    Wagner F.F., Poole J., Flegel W.A.
    Blood 101:752-757(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE SC-3), VARIANTS BLOOD GROUP SC2 ARG-57 AND SC4 ALA-60, VARIANT TYR-26.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Uterus.
  5. SeattleSNPs variation discovery resource
    Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-4; TYR-26; ARG-259 AND GLU-263.
  6. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  9. "STAR: a novel high-prevalence antigen in the Scianna blood group system."
    Hue-Roye K., Chaudhuri A., Velliquette R.W., Fetics S., Thomas R., Balk M., Wagner F.F., Flegel W.A., Reid M.E.
    Transfusion 45:245-247(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-144, VARIANT BLOOD GROUP SC5 LYS-47.
  10. "SCER and SCAN: two novel high-prevalence antigens in the Scianna blood group system."
    Flegel W.A., Chen Q., Reid M.E., Martin J., Orsini L.A., Poole J., Moulds M.K., Wagner F.F.
    Transfusion 45:1940-1944(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BLOOD GROUP SC7 SER-35 AND SC6 GLN-81.

Entry informationi

Entry nameiERMAP_HUMAN
AccessioniPrimary (citable) accession number: Q96PL5
Secondary accession number(s): D3DPW8
, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 113 of the entry and version 1 of the sequence. [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. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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