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Q96PL5 (ERMAP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Erythroid membrane-associated protein

Short name=hERMAP
Alternative name(s):
Radin blood group antigen
Scianna blood group antigen
Gene names
Name:ERMAP
Synonyms:RD, SC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length475 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Cell membrane; Single-pass type I membrane protein. Cytoplasm Ref.1 Ref.2.

Tissue specificity

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. Ref.1 Ref.2

Developmental stage

Expressed in fetal liver blood cells (at protein level). Highly expressed in fetal liver. Ref.1 Ref.2

Post-translational modification

Glycosylated.

Polymorphism

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.

Sequence similarities

Belongs to the immunoglobulin superfamily. BTN/MOG family.

Contains 1 B30.2/SPRY domain.

Contains 1 Ig-like V-type (immunoglobulin-like) domain.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2929 Potential
Chain30 – 475446Erythroid membrane-associated protein
PRO_0000226088

Regions

Topological domain30 – 155126Extracellular Potential
Transmembrane156 – 17621Helical; Potential
Topological domain177 – 475299Cytoplasmic Potential
Domain30 – 140111Ig-like V-type
Domain220 – 418199B30.2/SPRY

Amino acid modifications

Glycosylation1321N-linked (GlcNAc...) Potential
Disulfide bond50 ↔ 126 By similarity

Natural variations

Natural variant41A → V. Ref.5
Corresponds to variant rs35757049 [ dbSNP | Ensembl ].
VAR_025478
Natural variant261H → Y. Ref.3 Ref.5
Corresponds to variant rs33953680 [ dbSNP | Ensembl ].
VAR_025479
Natural variant351G → S in Sc7 antigen. Ref.10
Corresponds to variant rs146429994 [ dbSNP | Ensembl ].
VAR_025480
Natural variant471E → K in Sc5 antigen. Ref.9
Corresponds to variant rs56047316 [ dbSNP | Ensembl ].
VAR_025481
Natural variant571G → R in Sc2 antigen. Ref.3
Corresponds to variant rs56025238 [ dbSNP | Ensembl ].
VAR_025482
Natural variant601P → A in Sc4 antigen. Ref.3
Corresponds to variant rs56136737 [ dbSNP | Ensembl ].
VAR_025483
Natural variant811R → Q in Sc6 antigen. Ref.10
VAR_025484
Natural variant103 – 11311DAQEGSVTLQI → CPRGKCHSADP in Sc-3 allele.
VAR_025485
Natural variant114 – 475362Missing in Sc-3 allele.
VAR_025486
Natural variant2591C → R. Ref.5
Corresponds to variant rs35147822 [ dbSNP | Ensembl ].
VAR_025487
Natural variant2631G → E. Ref.5
Corresponds to variant rs34441268 [ dbSNP | Ensembl ].
VAR_025488

Experimental info

Sequence conflict4521L → P in CAD97613. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q96PL5 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: D796B0951EA02E0F

FASTA47552,605
        10         20         30         40         50         60 
MEMASSAGSW LSGCLIPLVF LRLSVHVSGH AGDAGKFHVA LLGGTAELLC PLSLWPGTVP 

        70         80         90        100        110        120 
KEVRWLRSPF PQRSQAVHIF RDGKDQDEDL MPEYKGRTVL VRDAQEGSVT LQILDVRLED 

       130        140        150        160        170        180 
QGSYRCLIQV GNLSKEDTVI LQVAAPSVGS LSPSAVALAV ILPVLVLLIM VCLCLIWKQR 

       190        200        210        220        230        240 
RAKEKLLYEH VTEVDNLLSD HAKEKGKLHK AVKKLRSELK LKRAAANSGW RRARLHFVAV 

       250        260        270        280        290        300 
TLDPDTAHPK LILSEDQRCV RLGDRRQPVP DNPQRFDFVV SILGSEYFTT GCHYWEVYVG 

       310        320        330        340        350        360 
DKTKWILGVC SESVSRKGKV TASPANGHWL LRQSRGNEYE ALTSPQTSFR LKEPPRCVGI 

       370        380        390        400        410        420 
FLDYEAGVIS FYNVTNKSHI FTFTHNFSGP LRPFFEPCLH DGGKNTAPLV ICSELHKSEE 

       430        440        450        460        470 
SIVPRPEGKG HANGDVSLKV NSSLLPPKAP ELKDIILSLP PDLGPALQEL KAPSF 

« Hide

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

SeattleSNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY049028 mRNA. Translation: AAL11456.1.
AF311284 mRNA. Translation: AAL08411.1.
AF311285 mRNA. Translation: AAL08412.1.
AJ505028 Genomic DNA. Translation: CAD43739.1.
AJ505036 expand/collapse EMBL AC list , AJ505037, AJ505038, AJ505039, AJ505040, AJ505041, AJ505042 Genomic DNA. Translation: CAD43740.1.
AJ505044 expand/collapse EMBL AC list , 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.
RefSeqNP_001017922.1. NM_001017922.1.
NP_061008.2. NM_018538.3.
UniGeneHs.439437.

3D structure databases

ProteinModelPortalQ96PL5.
SMRQ96PL5. Positions 40-146, 233-412.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125328. 2 interactions.
STRING9606.ENSP00000361592.

PTM databases

PhosphoSiteQ96PL5.

Polymorphism databases

DMDM74761033.

Proteomic databases

PaxDbQ96PL5.
PRIDEQ96PL5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372514; ENSP00000361592; ENSG00000164010.
ENST00000372517; ENSP00000361595; ENSG00000164010.
GeneID114625.
KEGGhsa:114625.
UCSCuc001cic.1. human.

Organism-specific databases

CTD114625.
GeneCardsGC01P043256.
HGNCHGNC:15743. ERMAP.
HPAHPA042573.
MIM111620. phenotype.
111750. phenotype.
609017. gene.
neXtProtNX_Q96PL5.
PharmGKBPA27860.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG320971.
HOVERGENHBG050747.
InParanoidQ96PL5.
KOK06712.
OMACLIWKQR.
OrthoDBEOG7PCJGJ.
PhylomeDBQ96PL5.
TreeFamTF317532.

Gene expression databases

ArrayExpressQ96PL5.
BgeeQ96PL5.
CleanExHS_ERMAP.
GenevestigatorQ96PL5.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR001870. 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]
PfamPF13765. PRY. 1 hit.
PF00622. SPRY. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
PRINTSPR01407. BUTYPHLNCDUF.
SMARTSM00409. IG. 1 hit.
SM00589. PRY. 1 hit.
SM00449. SPRY. 1 hit.
[Graphical view]
SUPFAMSSF49899. SSF49899. 1 hit.
PROSITEPS50188. B302_SPRY. 1 hit.
PS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiERMAP.
GenomeRNAi114625.
NextBio79109.
PROQ96PL5.
SOURCESearch...

Entry information

Entry nameERMAP_HUMAN
AccessionPrimary (citable) accession number: Q96PL5
Secondary accession number(s): D3DPW8 expand/collapse secondary AC list , Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL6
Entry history
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries