Q8TCY5 (MRAP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Melanocortin-2 receptor accessory protein

Alternative name(s):
B27
Fat cell-specific low molecular weight protein
Fat tissue-specific low MW protein

Gene names

Name:	MRAP
Synonyms:	C21orf61, FALP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	172 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for MC2R expression in certain cell types, suggesting that it is involved in the processing, trafficking or function of MC2R. May be involved in the intracellular trafficking pathways in adipocyte cells. Ref.4
Subunit structure	Interacts with MC2R. Ref.4
Subcellular location	Cytoplasm › perinuclear region. Cytoplasm By similarity. Cell membrane. Endoplasmic reticulum. Note: Concentrated at the perinuclear membrane region. Upon insulin stimulation, it is redistributed into spotty structures throughout the cytoplasm By similarity. Localizes both to plasma membrane and endoplasmic reticulum. Ref.4
Tissue specificity	Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues. Ref.4
Involvement in disease	Glucocorticoid deficiency 2 (GCCD2) [MIM:607398]: A rare, potentially lethal, autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Ontologies

Keywords
Cellular component	Cell membrane Cytoplasm Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	brown fat cell differentiation Inferred from electronic annotation. Source: Compara positive regulation of cAMP biosynthetic process Inferred from direct assay PubMed 19329486. Source: BHF-UCL protein localization to cell surface Inferred from direct assay PubMed 19329486. Source: BHF-UCL
Cellular_component	endoplasmic reticulum Inferred from direct assay PubMed 19329486. Source: BHF-UCL integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW perinuclear region of cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membrane Inferred from direct assay PubMed 19329486. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 4 (identifier: Q8TCY5-4)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 1 (identifier: Q8TCY5-1)

Also known as: Alpha; MRAP-alpha;

The sequence of this isoform differs from the canonical sequence as follows:
     68-68: M → MR

Isoform 2 (identifier: Q8TCY5-2)

Also known as: Beta; MRAP-beta;

The sequence of this isoform differs from the canonical sequence as follows:
     69-101: RNSPKHHQTCPWSHGLNLHLCIQKCLPCHREPL → SFNTDESLLHSEVLPQTRAISCDELQAPREEGAA
     102-172: Missing.

Isoform 3 (identifier: Q8TCY5-3)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 172	172	Melanocortin-2 receptor accessory protein		PRO_0000096570
Regions
	Topological domain	1 – 37	37	Cytoplasmic Potential
	Transmembrane	38 – 58	21	Helical; Potential
	Topological domain	59 – 172	114	Extracellular Potential
Natural variations
	Alternative sequence	1 – 59	59	Missing in isoform 3.		VSP_003862
	Alternative sequence	68	1	M → MR in isoform 1.		VSP_021020
	Alternative sequence	69 – 101	33	RNSPK…HREPL → SFNTDESLLHSEVLPQTRAI SCDELQAPREEGAA in isoform 2.		VSP_003863
	Alternative sequence	102 – 172	71	Missing in isoform 2.		VSP_003864

Sequences

	Sequence		Length	Mass (Da)
	Isoform 4 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 9F93F39B40FAAFEA	FASTA	172	19,136
	10 20 30 40 50 60 MANGTNASAP YYSYEYYLDY LDLIPVDEKK LKAHKHSIVI AFWVSLAAFV VLLFLILLYM 70 80 90 100 110 120 SWSASPQMRN SPKHHQTCPW SHGLNLHLCI QKCLPCHREP LATSQAQASS VEPGSRTGPD 130 140 150 160 170 QPLRQESSST LPLGGFQTHP TLLWELTLNG GPLVRSKPSE PPPGDRTSQL QS
	Isoform 1 (Alpha) (MRAP-alpha) [UniParc]. Checksum: 7F6A2A3D99045107	FASTA	173	19,292
	10 20 30 40 50 60 MANGTNASAP YYSYEYYLDY LDLIPVDEKK LKAHKHSIVI AFWVSLAAFV VLLFLILLYM 70 80 90 100 110 120 SWSASPQMRR NSPKHHQTCP WSHGLNLHLC IQKCLPCHRE PLATSQAQAS SVEPGSRTGP 130 140 150 160 170 DQPLRQESSS TLPLGGFQTH PTLLWELTLN GGPLVRSKPS EPPPGDRTSQ LQS
	Isoform 2 (Beta) (MRAP-beta) [UniParc]. Checksum: 7FA8FCF335B43DA3	FASTA	102	11,519
	10 20 30 40 50 60 MANGTNASAP YYSYEYYLDY LDLIPVDEKK LKAHKHSIVI AFWVSLAAFV VLLFLILLYM 70 80 90 100 SWSASPQMSF NTDESLLHSE VLPQTRAISC DELQAPREEG AA
	Isoform 3 (Short) [UniParc]. Checksum: 968FDEF0D68ECCCA	FASTA	113	12,338
	10 20 30 40 50 60 MSWSASPQMR NSPKHHQTCP WSHGLNLHLC IQKCLPCHRE PLATSQAQAS SVEPGSRTGP 70 80 90 100 110 DQPLRQESSS TLPLGGFQTH PTLLWELTLN GGPLVRSKPS EPPPGDRTSQ LQS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of novel putative membrane proteins selectively expressed during adipose conversion of 3T3-L1 cells." Xu A., Choi K.-L., Wang Y., Permana P.A., Xu L.Y., Bogardus C., Cooper G.J.S. Biochem. Biophys. Res. Commun. 293:1161-1167(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Adipocyte.
[2]	"Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis." Gardiner K., Slavov D., Bechtel L., Davisson M. Genomics 79:833-843(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4). Tissue: Brain.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Thyroid.
[4]	"Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2." Metherell L.A., Chapple J.P., Cooray S., David A., Becker C., Rueschendorf F., Naville D., Begeot M., Khoo B., Nuernberg P., Huebner A., Cheetham M.E., Clark A.J.L. Nat. Genet. 37:166-170(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN GCCD2, FUNCTION, SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY, TISSUE SPECIFICITY, INTERACTION WITH MC2R.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF483549 mRNA. Translation: AAL86908.1. AY079152 mRNA. Translation: AAL80042.1. AF454915 mRNA. Translation: AAL51048.1. AF454916 mRNA. Translation: AAL51049.1. BC062721 mRNA. Translation: AAH62721.1.
IPI	IPI00154756. IPI00219581. IPI00219582. IPI01012334.
RefSeq	NP_848932.1. NM_178817.3. NP_996781.1. NM_206898.1.
UniGene	Hs.584940.
3D structure databases
ProteinModelPortal	Q8TCY5.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-29948N.
STRING	9606.ENSP00000306697.
PTM databases
PhosphoSite	Q8TCY5.
Polymorphism databases
DMDM	116242634.
Proteomic databases
PRIDE	Q8TCY5.
Protocols and materials databases
DNASU	56246.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303645; ENSP00000306697; ENSG00000170262. ENST00000339944; ENSP00000343661; ENSG00000170262. ENST00000399784; ENSP00000382684; ENSG00000170262. ENST00000399786; ENSP00000382686; ENSG00000170262.
GeneID	56246.
KEGG	hsa:56246.
UCSC	uc002ypj.3. human. uc002ypk.3. human.
Organism-specific databases
CTD	56246.
GeneCards	GC21P033664.
HGNC	HGNC:1304. MRAP.
HPA	HPA011024. HPA011093.
MIM	607398. phenotype. 609196. gene.
neXtProt	NX_Q8TCY5.
Orphanet	361. Familial glucocorticoid deficiency.
PharmGKB	PA25856.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG28578.
HOGENOM	HOG000113646.
HOVERGEN	HBG052507.
InParanoid	Q8TCY5.
OMA	CPWSHSL.
OrthoDB	EOG43BMQH.
PhylomeDB	Q8TCY5.
Gene expression databases
Bgee	Q8TCY5.
CleanEx	HS_MRAP.
Genevestigator	Q8TCY5.
GermOnline	ENSG00000170262. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	56246.
NextBio	61872.
SOURCE	Search...

Entry information

Entry name

MRAP_HUMAN

Accession

Primary (citable) accession number: Q8TCY5
Secondary accession number(s): Q5EBR3 , Q8TDB7, Q8WXC1, Q8WXC2

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2002
Last sequence update:	October 17, 2006
Last modified:	May 1, 2013
This is version 97 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.