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Q8TDB4 (HUMMR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length240 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 240240Protein MGARP
PRO_0000318764

Regions

Topological domain1 – 4040Cytoplasmic By similarity
Transmembrane41 – 6323Helical; Anchor for type IV membrane protein; By similarity
Topological domain64 – 240177Mitochondrial intermembrane By similarity

Natural variations

Natural variant1281A → T.
Corresponds to variant rs3208941 [ dbSNP | Ensembl ].
VAR_051256

Experimental info

Sequence conflict2401G → RANLQPVDISATNAIGCLIS AFVFLVHLV in AAG59896. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q8TDB4 [UniParc].

Last modified June 1, 2002. Version 1.
Checksum: 6E210FA627635CEC

FASTA24025,390
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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.
RefSeqNP_116012.2. NM_032623.3.
UniGeneHs.710036.

3D structure databases

ProteinModelPortalQ8TDB4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124220. 1 interaction.
IntActQ8TDB4. 1 interaction.

PTM databases

PhosphoSiteQ8TDB4.

Polymorphism databases

DMDM74715889.

Proteomic databases

PaxDbQ8TDB4.
PRIDEQ8TDB4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000398955; ENSP00000381928; ENSG00000137463.
GeneID84709.
KEGGhsa:84709.
UCSCuc003ihr.1. human.

Organism-specific databases

CTD84709.
GeneCardsGC04M140188.
H-InvDBHIX0200666.
HGNCHGNC:29969. MGARP.
neXtProtNX_Q8TDB4.
PharmGKBPA164717327.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44316.
HOGENOMHOG000111473.
OMAHTEHITN.
OrthoDBEOG77Q4Z9.
PhylomeDBQ8TDB4.
TreeFamTF336324.

Gene expression databases

BgeeQ8TDB4.
GenevestigatorQ8TDB4.

Family and domain databases

InterProIPR026093. Osap.
[Graphical view]
PANTHERPTHR22910. PTHR22910. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi84709.
NextBio74810.
PROQ8TDB4.

Entry information

Entry nameHUMMR_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 71 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM