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MRAP melanocortin 2 receptor accessory protein [ Homo sapiens (human) ]

Gene ID: 56246, updated on 20-Dec-2019

Summary

Official Symbol
MRAPprovided by HGNC
Official Full Name
melanocortin 2 receptor accessory proteinprovided by HGNC
Primary source
HGNC:HGNC:1304
See related
Ensembl:ENSG00000170262 MIM:609196
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
B27; FALP; FGD2; GCCD2; C21orf61
Summary
This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
Expression
Broad expression in fat (RPKM 19.3), adrenal (RPKM 18.8) and 20 other tissues See more
Orthologs

Genomic context

See MRAP in Genome Data Viewer
Location:
21q22.11
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (32291813..32314784)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (33664124..33687095)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 159 Neighboring gene MIS18 kinetochore protein A Neighboring gene MRAP antisense RNA 1 Neighboring gene URB1 ribosome biogenesis homolog Neighboring gene Sharpr-MPRA regulatory region 9918 Neighboring gene small nucleolar RNA, H/ACA box 80A Neighboring gene URB1 antisense RNA 1 (head to head)

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
corticotropin hormone receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
type 1 melanocortin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
type 3 melanocortin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
type 4 melanocortin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
type 5 melanocortin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane 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 

General protein information

Preferred Names
melanocortin-2 receptor accessory protein
Names
fat cell-specific low molecular weight protein
fat tissue-specific low MW protein

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_016234.1 RefSeqGene

    Range
    5001..27972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001285394.2NP_001272323.1  melanocortin-2 receptor accessory protein isoform c

    See identical proteins and their annotated locations for NP_001272323.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks a coding exon compared to variant 1. The resulting isoform (c) has a shorter N-terminus compared to isoform alpha.
    Source sequence(s)
    AP000266
    UniProtKB/Swiss-Prot
    Q8TCY5
    Conserved Domains (1) summary
    pfam15183
    Location:130
    MRAP; Melanocortin-2 receptor accessory protein family
  2. NM_178817.4NP_848932.1  melanocortin-2 receptor accessory protein isoform alpha

    See identical proteins and their annotated locations for NP_848932.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (alpha).
    Source sequence(s)
    AP000266
    Consensus CDS
    CCDS13613.1
    UniProtKB/Swiss-Prot
    Q8TCY5
    Related
    ENSP00000382684.2, ENST00000399784.6
    Conserved Domains (1) summary
    pfam15183
    Location:189
    MRAP; Melanocortin-2 receptor accessory protein family
  3. NM_206898.1NP_996781.1  melanocortin-2 receptor accessory protein isoform beta

    See identical proteins and their annotated locations for NP_996781.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (beta) is shorter and has a distinct C-terminus compared to isoform alpha.
    Source sequence(s)
    AF454915, AF483549
    Consensus CDS
    CCDS13612.1
    UniProtKB/Swiss-Prot
    Q8TCY5
    Conserved Domains (1) summary
    pfam15183
    Location:172
    MRAP; Melanocortin-2 receptor accessory protein family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    32291813..32314784
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724028.3XP_006724091.1  melanocortin-2 receptor accessory protein isoform X1

    See identical proteins and their annotated locations for XP_006724091.1

    UniProtKB/Swiss-Prot
    Q8TCY5
    Related
    ENSP00000306697.5, ENST00000303645.9
    Conserved Domains (1) summary
    pfam15183
    Location:189
    MRAP; Melanocortin-2 receptor accessory protein family
  2. XM_017028407.1XP_016883896.1  melanocortin-2 receptor accessory protein isoform X2

    UniProtKB/Swiss-Prot
    Q8TCY5
    Related
    ENSP00000343661.4, ENST00000339944.4
    Conserved Domains (1) summary
    pfam15183
    Location:172
    MRAP; Melanocortin-2 receptor accessory protein family
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