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

Gene ID: 114625, updated on 7-Jun-2020

Summary

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
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

Genomic context

See ERMAP in Genome Data Viewer
Location:
1p34.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (42817122..42844991)
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 chromosome 1 open reading frame 50 Neighboring gene TMEM269 divergent transcript Neighboring gene uncharacterized LOC107984946 Neighboring gene transmembrane protein 269 Neighboring gene small vasohibin binding protein Neighboring gene zinc finger protein 691 Neighboring gene uncharacterized LOC339539 Neighboring gene transmembrane channel like 6 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC118810, MGC118811, MGC118812, MGC118813

Gene Ontology Provided by GOA

Function Evidence Code Pubs
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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)

mRNA and Protein(s)

  1. NM_001017922.2NP_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
    UniProtKB/TrEMBL
    A0A1C9HIH9
    Related
    ENSP00000361595.2, ENST00000372517.8
    Conserved Domains (2) summary
    cd15813
    Location:230412
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
    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
    UniProtKB/TrEMBL
    A0A1C9HIH9
    Related
    ENSP00000361592.3, ENST00000372514.7
    Conserved Domains (2) summary
    cd15813
    Location:230412
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
    cl11960
    Location:43144
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006710313.4XP_006710376.1  erythroid membrane-associated protein isoform X1

    See identical proteins and their annotated locations for XP_006710376.1

    UniProtKB/Swiss-Prot
    Q96PL5
    UniProtKB/TrEMBL
    A0A1C9HIH9
    Conserved Domains (2) summary
    cd15813
    Location:230412
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
    cl11960
    Location:43144
    Ig; Immunoglobulin domain
  2. XM_011540571.3XP_011538873.1  erythroid membrane-associated protein isoform X2

    Conserved Domains (3) summary
    smart00410
    Location:38143
    IG_like; Immunoglobulin like
    cd15813
    Location:223405
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
    cl11960
    Location:43144
    Ig; Immunoglobulin domain
  3. XM_011540570.3XP_011538872.1  erythroid membrane-associated protein isoform X1

    See identical proteins and their annotated locations for XP_011538872.1

    UniProtKB/Swiss-Prot
    Q96PL5
    UniProtKB/TrEMBL
    A0A1C9HIH9
    Conserved Domains (2) summary
    cd15813
    Location:230412
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
    cl11960
    Location:43144
    Ig; Immunoglobulin domain
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