Q8TDB4 (HUMMR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein MGARP

Alternative name(s):
Corneal endothelium-specific protein 1
Short name=CESP-1
Hypoxia up-regulated mitochondrial movement regulator protein
Mitochondria-localized glutamic acid-rich protein
Ovary-specific acidic protein

Gene names

Name:	MGARP
Synonyms:	C4orf49, CESP1, HUMMR, OSAP
ORF Names:	GS3582

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 › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	240 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays a role in the trafficking of mitochondria along microtubules. Regulates the kinesin-mediated axonal transport of mitochondria to nerve terminals along microtubules during hypoxia. Participates in the translocation of TRAK2/GRIF1 from the cytoplasm to the mitochondrion. Also plays a role in steroidogenesis through maintenance of mitochondrial abundance and morphology By similarity.
Subunit structure	Interacts with RHOT1/Miro-1, TRAK1/OIP106 and TRAK2/GRIF1 By similarity. Interacts with RHOT2/Miro-2. Ref.7
Subcellular location	Membrane; Single-pass membrane protein Potential. Mitochondrion. Mitochondrion outer membrane; Single-pass type IV membrane protein; Cytoplasmic side By similarity. Note: Colocalizes with RHOT1, RHOT2, TRAK1 and TRAK2 at the mitochondrion By similarity. Ref.5 Ref.9
Tissue specificity	Expressed in the brain, adrenal gland and corneal endothelium (CE). Expressed in steroid-producing cells of the ovary and testis (at protein level). Expressed in steroid-producing cells of the ovary and testis. Weakly expressed in placenta. Expressed in corneal endothelial cells. Ref.1 Ref.2 Ref.5 Ref.6 Ref.7

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion outer membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterograde axon cargo transport Inferred from sequence or structural similarity. Source: UniProtKB axon transport of mitochondrion Inferred from sequence or structural similarity. Source: UniProtKB cellular response to gonadotropin-releasing hormone Inferred from sequence or structural similarity. Source: UniProtKB cellular response to hypoxia Inferred from sequence or structural similarity. Source: UniProtKB cellular response to steroid hormone stimulus Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of mitochondrion organization Inferred from sequence or structural similarity. Source: UniProtKB protein targeting to mitochondrion Inferred from sequence or structural similarity. Source: UniProtKB retrograde axon cargo transport Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	integral to mitochondrial outer membrane Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 240	240	Protein MGARP		PRO_0000318764
Regions
	Topological domain	1 – 40	40	Cytoplasmic By similarity
	Transmembrane	41 – 63	23	Helical; Anchor for type IV membrane protein; By similarity
	Topological domain	64 – 240	177	Mitochondrial intermembrane By similarity
Natural variations
	Natural variant	128	1	A → T. Corresponds to variant rs3208941 [ dbSNP | Ensembl ].		VAR_051256
Experimental info
	Sequence conflict	240	1	G → RANLQPVDISATNAIGCLIS AFVFLVHLV in AAG59896. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q8TDB4 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: 6E210FA627635CEC	FASTA	240	25,390
	10 20 30 40 50 60 MYLRRAVSKT LALPLRAPPN PAPLGKDASL RRMSSNRFPG SSGSNMIYYL VVGVTVSAGG 70 80 90 100 110 120 YYAYKTVTSD QAKHTEHKTN LKEKTKAEIH PFQGEKENVA ETEKASSEAP EELIVEAEVV 130 140 150 160 170 180 DAEESPSATV VVIKEASACP GHVEAAPETT AVSAETGPEV TDAAARETTE VNPETTPEVT 190 200 210 220 230 240 NAALDEAVTI DNDKDTTKNE TSDEYAELEE ENSPAESESS AGDDLQEEAS VGSEAASAQG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Construction of human corneal endothelial cDNA library and identification of novel active genes." Sakai R., Kinouchi T., Kawamoto S., Dana M.R., Hamamoto T., Tsuru T., Okubo K., Yamagami S. Invest. Ophthalmol. Vis. Sci. 43:1749-1756(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Corneal endothelium.
[2]	"The generation and characterization of an ovary-selective cDNA library." Tanaka M., Hennebold J.D., Miyakoshi K., Teranishi T., Ueno K., Adashi E.Y. Mol. Cell. Endocrinol. 202:67-69(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Ovary.
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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].
[5]	"Distribution of CESP-1 protein in the corneal endothelium and other tissues." Kinouchi R., Kinouchi T., Hamamoto T., Saito T., Tavares A., Tsuru T., Yamagami S. Invest. Ophthalmol. Vis. Sci. 47:1397-1403(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[6]	"Expression of ovary-specific acidic protein in steroidogenic tissues: a possible role in steroidogenesis." Matsumoto T., Minegishi K., Ishimoto H., Tanaka M., Hennebold J.D., Teranishi T., Hattori Y., Furuya M., Higuchi T., Asai S., Kim S.H., Miyakoshi K., Yoshimura Y. Endocrinology 150:3353-3359(2009) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[7]	"HUMMR, a hypoxia- and HIF-1alpha-inducible protein, alters mitochondrial distribution and transport." Li Y., Lim S., Hoffman D., Aspenstrom P., Federoff H.J., Rempe D.A. J. Cell Biol. 185:1065-1081(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH RHOT2, TISSUE SPECIFICITY.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]	"The expression of a mitochondria-localized glutamic acid-rich protein (MGARP/OSAP) is under the regulation of the HPG axis." Zhou M., Wang Y., Qi S., Wang J., Zhang S. Endocrinology 152:2311-2320(2011) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF484960 mRNA. Translation: AAM09685.1. AF329088 mRNA. Translation: AAG59896.1. CH471056 Genomic DNA. Translation: EAX05122.1. BC104173 mRNA. Translation: AAI04174.1. BC104174 mRNA. Translation: AAI04175.1.
IPI	IPI00013252.
RefSeq	NP_116012.2. NM_032623.3.
UniGene	Hs.710036.
3D structure databases
ProteinModelPortal	Q8TDB4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8TDB4. 1 interaction.
PTM databases
PhosphoSite	Q8TDB4.
Polymorphism databases
DMDM	74715889.
Proteomic databases
PaxDb	Q8TDB4.
PRIDE	Q8TDB4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000398955; ENSP00000381928; ENSG00000137463.
GeneID	84709.
KEGG	hsa:84709.
UCSC	uc003ihr.1. human.
Organism-specific databases
CTD	84709.
GeneCards	GC04M140188.
H-InvDB	HIX0200666.
HGNC	HGNC:29969. MGARP.
neXtProt	NX_Q8TDB4.
PharmGKB	PA164717327.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG44316.
HOGENOM	HOG000111473.
OMA	HTEHITN.
OrthoDB	EOG77Q4Z9.
Gene expression databases
Bgee	Q8TDB4.
Genevestigator	Q8TDB4.
Family and domain databases
InterPro	IPR026093. Osap. [Graphical view]
PANTHER	PTHR22910. PTHR22910. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	84709.
NextBio	74810.
PRO	Q8TDB4.

Entry information

Entry name

HUMMR_HUMAN

Accession

Primary (citable) accession number: Q8TDB4
Secondary accession number(s): Q9BZC3

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 26, 2008
Last sequence update:	June 1, 2002
Last modified:	November 13, 2013
This is version 68 of the entry and version 1 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.