Human Gene ERMAP (uc001cic.1)
  Description: Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA.
RefSeq Summary (NM_001017922): The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr1:43,282,776-43,310,660 Size: 27,885 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr1:43,296,120-43,308,903 Size: 12,784 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:43,282,776-43,310,660)mRNA (may differ from genome)Protein (475 aa)
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neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ERMAP_HUMAN
DESCRIPTION: RecName: Full=Erythroid membrane-associated protein; Short=hERMAP; AltName: Full=Radin blood group antigen; AltName: Full=Scianna blood group antigen; Flags: Precursor;
FUNCTION: Possible role as a cell-adhesion or receptor molecule of erythroid cells.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cytoplasm.
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.
DEVELOPMENTAL STAGE: Expressed in fetal liver blood cells (at protein level). Highly expressed in fetal liver.
PTM: 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.
SIMILARITY: Belongs to the immunoglobulin superfamily. BTN/MOG family.
SIMILARITY: Contains 1 B30.2/SPRY domain.
SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain.
SEQUENCE CAUTION: Sequence=CAH72716.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=scianna";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ermap/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ERMAP
CDC HuGE Published Literature: ERMAP

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.63 RPKM in Pituitary
Total median expression: 206.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -105.00270-0.389 Picture PostScript Text
3' UTR -532.611757-0.303 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001870 - B30.2/SPRY
IPR003879 - Butyrophylin
IPR008985 - ConA-like_lec_gl_sf
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub
IPR013106 - Ig_V-set
IPR006574 - PRY
IPR018355 - SPla/RYanodine_receptor_subgr
IPR003877 - SPRY_rcpt

Pfam Domains:
PF00622 - SPRY domain
PF07686 - Immunoglobulin V-set domain
PF13765 - SPRY-associated domain

SCOP Domains:
48726 - Immunoglobulin

ModBase Predicted Comparative 3D Structure on Q96PL5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK314436 - Homo sapiens cDNA, FLJ95234.
AK125447 - Homo sapiens cDNA FLJ43458 fis, clone OCBBF2035390.
AK056138 - Homo sapiens cDNA FLJ31576 fis, clone NT2RI2001866, moderately similar to Mus musculus erythroid membrane-associated protein ERMAP mRNA.
AK295704 - Homo sapiens cDNA FLJ55212 complete cds, highly similar to Erythroid membrane-associated protein precursor.
AY049028 - Homo sapiens erythroid membrane-associated protein mRNA, complete cds.
AF311285 - Homo sapiens clone D19-2g erythroid membrane-associated protein mRNA, complete cds.
JD126531 - Sequence 107555 from Patent EP1572962.
BC099703 - Homo sapiens erythroblast membrane-associated protein (Scianna blood group), mRNA (cDNA clone MGC:118810 IMAGE:40000626), complete cds.
BC099707 - Homo sapiens erythroblast membrane-associated protein (Scianna blood group), transcript variant 1, mRNA (cDNA clone MGC:118811 IMAGE:40000628), complete cds.
BC099712 - Homo sapiens erythroblast membrane-associated protein (Scianna blood group), mRNA (cDNA clone MGC:118812 IMAGE:40000629), complete cds.
BC099713 - Homo sapiens erythroblast membrane-associated protein (Scianna blood group), transcript variant 1, mRNA (cDNA clone MGC:118813 IMAGE:40000630), complete cds.
BX537371 - Homo sapiens mRNA; cDNA DKFZp686J23132 (from clone DKFZp686J23132).
AB590602 - Synthetic construct DNA, clone: pFN21AE1936, Homo sapiens ERMAP gene for erythroblast membrane-associated protein, without stop codon, in Flexi system.
KJ895264 - Synthetic construct Homo sapiens clone ccsbBroadEn_04658 ERMAP gene, encodes complete protein.
KR711483 - Synthetic construct Homo sapiens clone CCSBHm_00024345 ERMAP (ERMAP) mRNA, encodes complete protein.
KR711484 - Synthetic construct Homo sapiens clone CCSBHm_00024346 ERMAP (ERMAP) mRNA, encodes complete protein.
KR711485 - Synthetic construct Homo sapiens clone CCSBHm_00024347 ERMAP (ERMAP) mRNA, encodes complete protein.
AF311284 - Homo sapiens clone 1 erythroid membrane-associated protein mRNA, partial cds.
JD053089 - Sequence 34113 from Patent EP1572962.
JD110962 - Sequence 91986 from Patent EP1572962.
JD381918 - Sequence 362942 from Patent EP1572962.
AF119899 - Homo sapiens PRO2801 mRNA, complete cds.
JD324275 - Sequence 305299 from Patent EP1572962.
JD351419 - Sequence 332443 from Patent EP1572962.
JD378476 - Sequence 359500 from Patent EP1572962.
JD553880 - Sequence 534904 from Patent EP1572962.
JD088549 - Sequence 69573 from Patent EP1572962.
JD372968 - Sequence 353992 from Patent EP1572962.
JD209923 - Sequence 190947 from Patent EP1572962.
BC031548 - Homo sapiens erythroblast membrane-associated protein (Scianna blood group), mRNA (cDNA clone IMAGE:4346875).
JD065903 - Sequence 46927 from Patent EP1572962.
JD515829 - Sequence 496853 from Patent EP1572962.
JD558059 - Sequence 539083 from Patent EP1572962.
JD175380 - Sequence 156404 from Patent EP1572962.
JD281523 - Sequence 262547 from Patent EP1572962.
JD041816 - Sequence 22840 from Patent EP1572962.
JD067251 - Sequence 48275 from Patent EP1572962.
JD377478 - Sequence 358502 from Patent EP1572962.
JD202510 - Sequence 183534 from Patent EP1572962.
JD471257 - Sequence 452281 from Patent EP1572962.
JD250491 - Sequence 231515 from Patent EP1572962.
JD377192 - Sequence 358216 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DPW8, ERMAP_HUMAN, NM_001017922, NP_061008, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL5, Q96PL6, RD, SC
UCSC ID: uc001cic.1
RefSeq Accession: NM_001017922
Protein: Q96PL5 (aka ERMAP_HUMAN)
CCDS: CCDS475.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001017922.1
exon count: 12CDS single in 3' UTR: no RNA size: 3485
ORF size: 1428CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2780.50frame shift in genome: no % Coverage: 99.14
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.