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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
    mouse all
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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