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ERMAP erythroblast membrane associated protein (Scianna blood group) [ Homo sapiens (human) ]

Gene ID: 114625, updated on 27-Nov-2024

Summary

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Official Symbol
ERMAPprovided by HGNC
Official Full Name
erythroblast membrane associated protein (Scianna blood group)provided by HGNC
Primary source
HGNC:HGNC:15743
See related
Ensembl:ENSG00000164010 MIM:609017; AllianceGenome:HGNC:15743
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RD; SC; BTN5; PRO2801
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 13.2), thyroid (RPKM 8.4) and 25 other tissues See more
Orthologs
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Genomic context

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See ERMAP in Genome Data Viewer
Location:
1p34.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (42817122..42844991)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42687603..42715472)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43282793..43310662)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chromosome 1 open reading frame 50 Neighboring gene TMEM269 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43250662-43251403 Neighboring gene uncharacterized LOC107984946 Neighboring gene transmembrane protein 269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 771 Neighboring gene small vasohibin binding protein Neighboring gene uncharacterized LOC124904163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 898 Neighboring gene ZNF691 divergent transcript Neighboring gene zinc finger protein 691 Neighboring gene uncharacterized LOC339539 Neighboring gene transmembrane channel like 6 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. [Expression of human ermap gene in umbilical cord blood mononuclear cells during differentiation and development towards erythroid lineage]. Lin LD, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2008 Apr. PMID 18426659
  2. Genetic linkage between the Radin and Rh blood group loci. Lewis M, et al. Vox Sang, 1979. PMID 118583
  3. The position of the Radin blood group locus in relation to other chromosome l loci. Lewis M, et al. Ann Hum Genet, 1980 Oct. PMID 6459052
  4. Human ERMAP: an erythroid adhesion/receptor transmembrane protein. Su YY, et al. Blood Cells Mol Dis, 2001 Sep-Oct. PMID 11783959
  5. Scianna antigens including Rd are expressed by ERMAP. Wagner FF, et al. Blood, 2003 Jan 15. PMID 12393480

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The ligation between ERMAP, galectin-9 and dectin-2 promotes Kupffer cell phagocytosis and antitumor immunity.
    Title: The ligation between ERMAP, galectin-9 and dectin-2 promotes Kupffer cell phagocytosis and antitumor immunity.
  2. ERMAP is a B7 family-related molecule that negatively regulates T cell and macrophage responses.
    Title: ERMAP is a B7 family-related molecule that negatively regulates T cell and macrophage responses.
  3. Through molecular genotyping we also identified polymorphisms in RhCE, Kell, Duffy, Colton, Lutheran and Scianna loci in donors and patients.
    Title: Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples.
  4. the five known probands with the SC*994C>T silencing nucleotide change were from the Pacific Islands.
    Title: SC*994C>T causes the Sc(null) phenotype in Pacific Islanders and successful transfusion of Sc3+ blood to a patient with anti-Sc3.
  5. The human ermap gene plays an important role in differentiation and development of erythroid cells.
    Title: [Expression of human ermap gene in umbilical cord blood mononuclear cells during differentiation and development towards erythroid lineage].
  6. Observational study of genotype prevalence. (HuGE Navigator)
    Title: The polymorphism nt 76 in exon 2 of SC is more frequent in whites than in blacks.
  7. DNA sequencing demonstrates Scianna antigens including Rd are expressed by ERMAP.
    Title: Scianna antigens including Rd are expressed by ERMAP.
  8. A human cDNA and gene encoding for human ERMAP is cloned and characterized. The protein is sequenced and its expression analyzed.
    Title: Human ERMAP: an erythroid adhesion/receptor transmembrane protein.
  9. ERMAP, a unique member of the B30.2 domain protein family, is expressed in erythroid cells in fetal liver, adult bone marrow, reticulocytes and in circulating erythroblasts in 8-12-week fetal cord blood.
    Title: Cloning and characterization of human erythroid membrane-associated protein, human ERMAP.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Antigen in Scianna blood group system
MedGen: C1292292 OMIM: 111750 GeneReviews: Not available
not available
Radin blood group
MedGen: C1862204 OMIM: 111620 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC118810, MGC118811, MGC118812, MGC118813

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
erythroid membrane-associated protein
Names
Radin blood group (Rd)
Scianna blood group (Sc)
radin blood group antigen
scianna blood group antigen

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008749.1 RefSeqGene

    Range
    5018..32887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_806

mRNA and Protein(s)

  1. NM_001017922.2 → NP_001017922.1  erythroid membrane-associated protein precursor

    See identical proteins and their annotated locations for NP_001017922.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF311285, AL512353, AY049028, BX507568
    Consensus CDS
    CCDS475.1
    UniProtKB/Swiss-Prot
    D3DPW8, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL5, Q96PL6
    UniProtKB/TrEMBL
    A0A1C9HIH9, A0A1C9HIK4, A0A1C9HIM0, A0A8E3MLL8
    Related
    ENSP00000361595.2, ENST00000372517.8
    Conserved Domains (3) summary
    cd15813
    Location:230 → 412
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
    cd00096
    Location:44 → 52
    Ig; Ig strand B [structural motif]
    cl11960
    Location:39 → 144
    Ig; Immunoglobulin domain

  2. NM_018538.4 → NP_061008.2  erythroid membrane-associated protein precursor

    See identical proteins and their annotated locations for NP_061008.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR and encodes the same protein, as compared to variant 1.
    Source sequence(s)
    AF311285, AL512353, AY049028
    Consensus CDS
    CCDS475.1
    UniProtKB/Swiss-Prot
    D3DPW8, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL5, Q96PL6
    UniProtKB/TrEMBL
    A0A1C9HIH9, A0A1C9HIK4, A0A1C9HIM0, A0A8E3MLL8
    Related
    ENSP00000361592.3, ENST00000372514.7
    Conserved Domains (3) summary
    cd15813
    Location:230 → 412
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
    cd00096
    Location:44 → 52
    Ig; Ig strand B [structural motif]
    cl11960
    Location:39 → 144
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    42817122..42844991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443591.1 → XP_047299547.1  erythroid membrane-associated protein isoform X3

    UniProtKB/Swiss-Prot
    D3DPW8, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL5, Q96PL6
    UniProtKB/TrEMBL
    A0A1C9HIH9

  2. XM_006710313.5 → XP_006710376.1  erythroid membrane-associated protein isoform X3

    See identical proteins and their annotated locations for XP_006710376.1

    UniProtKB/Swiss-Prot
    D3DPW8, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL5, Q96PL6
    UniProtKB/TrEMBL
    A0A1C9HIH9, A0A1C9HIK4, A0A1C9HIM0, A0A8E3MLL8
    Conserved Domains (3) summary
    cd15813
    Location:230 → 412
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
    cd00096
    Location:44 → 52
    Ig; Ig strand B [structural motif]
    cl11960
    Location:39 → 144
    Ig; Immunoglobulin domain

  3. XM_011540570.4 → XP_011538872.1  erythroid membrane-associated protein isoform X3

    See identical proteins and their annotated locations for XP_011538872.1

    UniProtKB/Swiss-Prot
    D3DPW8, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL5, Q96PL6
    UniProtKB/TrEMBL
    A0A1C9HIH9, A0A1C9HIK4, A0A1C9HIM0, A0A8E3MLL8
    Conserved Domains (3) summary
    cd15813
    Location:230 → 412
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
    cd00096
    Location:44 → 52
    Ig; Ig strand B [structural motif]
    cl11960
    Location:39 → 144
    Ig; Immunoglobulin domain

  4. XM_047443595.1 → XP_047299551.1  erythroid membrane-associated protein isoform X4

    Related
    ENST00000487556.6

  5. XM_047443586.1 → XP_047299542.1  erythroid membrane-associated protein isoform X1

  6. XM_047443588.1 → XP_047299544.1  erythroid membrane-associated protein isoform X2

  7. XM_047443600.1 → XP_047299556.1  erythroid membrane-associated protein isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    42687603..42715472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334086.1 → XP_054190061.1  erythroid membrane-associated protein isoform X3

    UniProtKB/Swiss-Prot
    D3DPW8, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL5, Q96PL6
    UniProtKB/TrEMBL
    A0A1C9HIH9

  2. XM_054334085.1 → XP_054190060.1  erythroid membrane-associated protein isoform X3

    UniProtKB/Swiss-Prot
    D3DPW8, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL5, Q96PL6
    UniProtKB/TrEMBL
    A0A1C9HIH9

  3. XM_054334087.1 → XP_054190062.1  erythroid membrane-associated protein isoform X3

    UniProtKB/Swiss-Prot
    D3DPW8, Q5VV53, Q6DUE0, Q7Z3X0, Q8NCV8, Q8NCW2, Q8NCW3, Q96PL5, Q96PL6
    UniProtKB/TrEMBL
    A0A1C9HIH9

  4. XM_054334088.1 → XP_054190063.1  erythroid membrane-associated protein isoform X4

  5. XM_054334083.1 → XP_054190058.1  erythroid membrane-associated protein isoform X1

  6. XM_054334084.1 → XP_054190059.1  erythroid membrane-associated protein isoform X2

  7. XM_054334089.1 → XP_054190064.1  erythroid membrane-associated protein isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96PL5.1 GenPept UniProtKB/Swiss-Prot:Q96PL5

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