Q96PL5 (ERMAP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	475 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Cell membrane Cytoplasm Membrane
Coding sequence diversity	Polymorphism
Domain	Immunoglobulin domain Signal Transmembrane Transmembrane helix
Molecular function	Blood group antigen
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from direct assay Ref.2. Source: MGI
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 29	29	Potential
	Chain	30 – 475	446	Erythroid membrane-associated protein		PRO_0000226088
Regions
	Topological domain	30 – 155	126	Extracellular Potential
	Transmembrane	156 – 176	21	Helical; Potential
	Topological domain	177 – 475	299	Cytoplasmic Potential
	Domain	30 – 140	111	Ig-like V-type
	Domain	220 – 418	199	B30.2/SPRY
Amino acid modifications
	Glycosylation	132	1	N-linked (GlcNAc...) Potential
	Disulfide bond	50 ↔ 126		By similarity
Natural variations
	Natural variant	4	1	A → V. Ref.5 Corresponds to variant rs35757049 [ dbSNP | Ensembl ].		VAR_025478
	Natural variant	26	1	H → Y. Ref.3 Ref.5 Corresponds to variant rs33953680 [ dbSNP | Ensembl ].		VAR_025479
	Natural variant	35	1	G → S in Sc7 antigen. Ref.10		VAR_025480
	Natural variant	47	1	E → K in Sc5 antigen. Ref.9 Corresponds to variant rs56047316 [ dbSNP | Ensembl ].		VAR_025481
	Natural variant	57	1	G → R in Sc2 antigen. Ref.3 Corresponds to variant rs56025238 [ dbSNP | Ensembl ].		VAR_025482
	Natural variant	60	1	P → A in Sc4 antigen. Ref.3 Corresponds to variant rs56136737 [ dbSNP | Ensembl ].		VAR_025483
	Natural variant	81	1	R → Q in Sc6 antigen. Ref.10		VAR_025484
	Natural variant	103 – 113	11	DAQEGSVTLQI → CPRGKCHSADP in Sc-3 allele.		VAR_025485
	Natural variant	114 – 475	362	Missing in Sc-3 allele.		VAR_025486
	Natural variant	259	1	C → R. Ref.5 Corresponds to variant rs35147822 [ dbSNP | Ensembl ].		VAR_025487
	Natural variant	263	1	G → E. Ref.5 Corresponds to variant rs34441268 [ dbSNP | Ensembl ].		VAR_025488
Experimental info
	Sequence conflict	452	1	L → P in CAD97613. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q96PL5 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: D796B0951EA02E0F	FASTA	475	52,605
	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

References

	« Hide 'large scale' referencesShow '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: 11783959] [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: 11549310] [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: 12393480] [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: 17974005] [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. , 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: 16710414] [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. , 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: 15489334] [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: 15660834] [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: 16371048] [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 , 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.
IPI	IPI00044556.
RefSeq	NP_001017922.1. NM_001017922.1. NP_061008.2. NM_018538.3.
UniGene	Hs.439437.
3D structure databases
ProteinModelPortal	Q96PL5.
SMR	Q96PL5. Positions 29-148, 230-415.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96PL5.
PTM databases
PhosphoSite	Q96PL5.
Polymorphism databases
DMDM	74761033.
Proteomic databases
PRIDE	Q96PL5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372514; ENSP00000361592; ENSG00000164010. ENST00000372517; ENSP00000361595; ENSG00000164010.
GeneID	114625.
KEGG	hsa:114625.
UCSC	uc001cic.1. human.
Organism-specific databases
CTD	114625.
GeneCards	GC01P043256.
H-InvDB	HIX0000497.
HGNC	HGNC:15743. ERMAP.
HPA	HPA042573.
MIM	111620. phenotype. 111750. phenotype. 609017. gene.
neXtProt	NX_Q96PL5.
PharmGKB	PA27860.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG15628.
GeneTree	ENSGT00590000082879.
HOVERGEN	HBG050747.
InParanoid	Q96PL5.
OMA	VFRDGKD.
OrthoDB	EOG49GKGH.
PhylomeDB	Q96PL5.
Gene expression databases
ArrayExpress	Q96PL5.
Bgee	Q96PL5.
CleanEx	HS_ERMAP.
Genevestigator	Q96PL5.
GermOnline	ENSG00000164010. Homo sapiens.
Family and domain databases
InterPro	IPR001870. B30.2/SPRY. IPR003879. Butyrophylin. IPR008985. ConA-like_lec_gl. IPR007110. Ig-like. IPR013783. Ig-like_fold. IPR003599. Ig_sub. IPR013106. Ig_V-set. IPR006574. PRY. IPR018355. SPla/RYanodine_receptor_subgr. IPR003877. SPRY_rcpt. [Graphical view]
Gene3D	G3DSA:2.60.40.10. Ig-like_fold. 1 hit.
KO	K06712.
Pfam	PF00622. SPRY. 1 hit. PF07686. V-set. 1 hit. [Graphical view]
PRINTS	PR01407. BUTYPHLNCDUF.
SMART	SM00409. IG. 1 hit. SM00589. PRY. 1 hit. SM00449. SPRY. 1 hit. [Graphical view]
SUPFAM	SSF49899. ConA_like_lec_gl. 1 hit.
PROSITE	PS50188. B302_SPRY. 1 hit. PS50835. IG_LIKE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	79109.
SOURCE	Search...

Entry information

Entry name

ERMAP_HUMAN

Accession

Primary (citable) accession number: Q96PL5
Secondary accession number(s): D3DPW8 , 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:	January 25, 2012
This is version 93 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.