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

    Gene ID: 114625, updated on 7-Feb-2016
    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; HPRD:12355; MIM:609017; Vega:OTTHUMG00000007619
    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]
    Orthologs
    See ERMAP in Epigenomics, MapViewer
    Location:
    1p34.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (42817105..42844989)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43282776..43310660)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378683 Neighboring gene uncharacterized LOC100129924 Neighboring gene small vasohibin binding protein Neighboring gene uncharacterized LOC105378682 Neighboring gene zinc finger protein 691 Neighboring gene uncharacterized LOC339539 Neighboring gene transmembrane channel like 6 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Antigen in Scianna blood group system
    MedGen: C0443842 OMIM: 111750 GeneReviews: Not available
    not available
    Radin blood group
    MedGen: C1862204 OMIM: 111620 GeneReviews: Not available
    not available
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Clone Names

    • MGC118810, MGC118811, MGC118812, MGC118813

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    erythroid membrane-associated protein
    Names
    Radin blood group (Rd)
    Scianna blood group (Sc)
    erythroblast membrane-associated protein (Scianna blood group)
    radin blood group antigen
    scianna blood group antigen

    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
      5001..32885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017922.1NP_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
      Q96PL5
      Related
      ENSP00000361595, OTTHUMP00000008916, ENST00000372517, OTTHUMT00000020180
      Conserved Domains (3) summary
      smart00410
      Location:38143
      IG_like; Immunoglobulin like
      cd12900
      Location:238412
      SPRY_PRY_Btn_TRIMs; PRY/SPRY domain in butyrophilins and butyrophilins-like proteins, pyrin, as well as tripartite motif-containing proteins (TRIM4, 5, 6, 11, 21, 22, 27, 30, 34, 38, 58, 60, 68, 75)
      cl11960
      Location:43144
      Ig; Immunoglobulin domain
    2. NM_018538.3NP_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
      Q96PL5
      Related
      ENSP00000361592, OTTHUMP00000008918, ENST00000372514, OTTHUMT00000020182
      Conserved Domains (3) summary
      smart00410
      Location:38143
      IG_like; Immunoglobulin like
      cd12900
      Location:238412
      SPRY_PRY_Btn_TRIMs; PRY/SPRY domain in butyrophilins and butyrophilins-like proteins, pyrin, as well as tripartite motif-containing proteins (TRIM4, 5, 6, 11, 21, 22, 27, 30, 34, 38, 58, 60, 68, 75)
      cl11960
      Location:43144
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      42817105..42844989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540570.1XP_011538872.1  

      See identical proteins and their annotated locations for XP_011538872.1

      UniProtKB/Swiss-Prot
      Q96PL5
      Conserved Domains (3) summary
      smart00410
      Location:38143
      IG_like; Immunoglobulin like
      cd12900
      Location:238412
      SPRY_PRY_Btn_TRIMs; PRY/SPRY domain in butyrophilins and butyrophilins-like proteins, pyrin, as well as tripartite motif-containing proteins (TRIM4, 5, 6, 11, 21, 22, 27, 30, 34, 38, 58, 60, 68, 75)
      cl11960
      Location:43144
      Ig; Immunoglobulin domain
    2. XM_006710313.2XP_006710376.1  

      See identical proteins and their annotated locations for XP_006710376.1

      UniProtKB/Swiss-Prot
      Q96PL5
      Conserved Domains (3) summary
      smart00410
      Location:38143
      IG_like; Immunoglobulin like
      cd12900
      Location:238412
      SPRY_PRY_Btn_TRIMs; PRY/SPRY domain in butyrophilins and butyrophilins-like proteins, pyrin, as well as tripartite motif-containing proteins (TRIM4, 5, 6, 11, 21, 22, 27, 30, 34, 38, 58, 60, 68, 75)
      cl11960
      Location:43144
      Ig; Immunoglobulin domain
    3. XM_011540571.1XP_011538873.1  

      Conserved Domains (3) summary
      smart00410
      Location:38143
      IG_like; Immunoglobulin like
      cd12900
      Location:231405
      SPRY_PRY_Btn_TRIMs; PRY/SPRY domain in butyrophilins and butyrophilins-like proteins, pyrin, as well as tripartite motif-containing proteins (TRIM4, 5, 6, 11, 21, 22, 27, 30, 34, 38, 58, 60, 68, 75)
      cl11960
      Location:43144
      Ig; Immunoglobulin domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      43399531..43427404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)