Q13505 (MTX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Metaxin-1

Alternative name(s):
Mitochondrial outer membrane import complex protein 1

Gene names

Name:	MTX1
Synonyms:	MTX, MTXN

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	466 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in transport of proteins into the mitochondrion. Essential for embryonic development By similarity.
Subunit structure	Interacts with MTX2/metaxin-2. Associates with the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3. Ref.7 Ref.9
Subcellular location	Membrane; Single-pass type I membrane protein Potential. Mitochondrion outer membrane By similarity.
Sequence similarities	Belongs to the metaxin family.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Membrane Mitochondrion Mitochondrion outer membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular protein metabolic process Traceable author statement. Source: Reactome protein targeting to mitochondrion Traceable author statement. Source: Reactome
Cellular_component	integral to membrane Traceable author statement Ref.1. Source: ProtInc mitochondrial inner membrane Inferred from electronic annotation. Source: Compara mitochondrial outer membrane Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from direct assay. Source: HPA
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q13505-1)

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 2 (identifier: Q13505-2)

The sequence of this isoform differs from the canonical sequence as follows:
     227-257: Missing.

Isoform 3 (identifier: Q13505-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-149: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 466	466	Metaxin-1		PRO_0000220991
Regions
	Transmembrane	421 – 441	21	Helical; Potential
Natural variations
	Alternative sequence	1 – 149	149	Missing in isoform 3.		VSP_035741
	Alternative sequence	227 – 257	31	Missing in isoform 2.		VSP_035742
	Natural variant	63	1	T → S. Ref.5 Ref.6 Corresponds to variant rs760077 [ dbSNP | Ensembl ].		VAR_047376

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 25, 2008. Version 2. Checksum: 593627546AB45BC4	FASTA	466	51,477
	10 20 30 40 50 60 MLLGGPPRSP RSGTSPKGPW SSTGHVQFGK SPQTWPRRTR PRSPEPAAPS GVRGSTWTRR 70 80 90 100 110 120 RDTPRRAGPT ALSRYVGHLW MGRRPPSPEA RGPVPRSSAA SRARRSLASP GISPGPLTAT 130 140 150 160 170 180 IGGAVAGGGP RQGRAEAHKE VFPGQRVGKM AAPMELFCWS GGWGLPSVDL DSLAVLTYAR 190 200 210 220 230 240 FTGAPLKVHK ISNPWQSPSG TLPALRTSHG EVISVPHKII THLRKEKYNA DYDLSARQGA 250 260 270 280 290 300 DTLAFMSLLE EKLLPVLVHT FWIDTKNYVE VTRKWYAEAM PFPLNFFLPG RMQRQYMERL 310 320 330 340 350 360 QLLTGEHRPE DEEELEKELY REARECLTLL SQRLGSQKFF FGDAPASLDA FVFSYLALLL 370 380 390 400 410 420 QAKLPSGKLQ VHLRGLHNLC AYCTHILSLY FPWDGAEVPP QRQTPAGPET EEEPYRRRNQ 430 440 450 460 ILSVLAGLAA MVGYALLSGI VSIQRATPAR APGTRTLGMA EEDEEE
	Isoform 2 [UniParc]. Checksum: 02B355D75A43113A	FASTA	435	48,009
	10 20 30 40 50 60 MLLGGPPRSP RSGTSPKGPW SSTGHVQFGK SPQTWPRRTR PRSPEPAAPS GVRGSTWTRR 70 80 90 100 110 120 RDTPRRAGPT ALSRYVGHLW MGRRPPSPEA RGPVPRSSAA SRARRSLASP GISPGPLTAT 130 140 150 160 170 180 IGGAVAGGGP RQGRAEAHKE VFPGQRVGKM AAPMELFCWS GGWGLPSVDL DSLAVLTYAR 190 200 210 220 230 240 FTGAPLKVHK ISNPWQSPSG TLPALRTSHG EVISVPHKII THLRKEVHTF WIDTKNYVEV 250 260 270 280 290 300 TRKWYAEAMP FPLNFFLPGR MQRQYMERLQ LLTGEHRPED EEELEKELYR EARECLTLLS 310 320 330 340 350 360 QRLGSQKFFF GDAPASLDAF VFSYLALLLQ AKLPSGKLQV HLRGLHNLCA YCTHILSLYF 370 380 390 400 410 420 PWDGAEVPPQ RQTPAGPETE EEPYRRRNQI LSVLAGLAAM VGYALLSGIV SIQRATPARA 430 PGTRTLGMAE EDEEE
	Isoform 3 [UniParc]. Checksum: 6D747CC8A20136E6	FASTA	317	35,777
	10 20 30 40 50 60 MAAPMELFCW SGGWGLPSVD LDSLAVLTYA RFTGAPLKVH KISNPWQSPS GTLPALRTSH 70 80 90 100 110 120 GEVISVPHKI ITHLRKEKYN ADYDLSARQG ADTLAFMSLL EEKLLPVLVH TFWIDTKNYV 130 140 150 160 170 180 EVTRKWYAEA MPFPLNFFLP GRMQRQYMER LQLLTGEHRP EDEEELEKEL YREARECLTL 190 200 210 220 230 240 LSQRLGSQKF FFGDAPASLD AFVFSYLALL LQAKLPSGKL QVHLRGLHNL CAYCTHILSL 250 260 270 280 290 300 YFPWDGAEVP PQRQTPAGPE TEEEPYRRRN QILSVLAGLA AMVGYALLSG IVSIQRATPA 310 RAPGTRTLGM AEEDEEE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure and organization of the human metaxin gene (MTX) and pseudogene." Long G.L., Winfield S.L., Adolph K.W., Ginns E.I., Bornstein P. Genomics 33:177-184(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3).
[2]	"Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease." Winfield S.L., Tayebi N., Martin B.M., Ginns E.I., Sidransky E. Genome Res. 7:1020-1026(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3).
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Testis.
[4]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	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], VARIANT SER-63.
[6]	"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 2), VARIANT SER-63. Tissue: Placenta.
[7]	"Metaxin 1 interacts with metaxin 2, a novel related protein associated with the mammalian mitochondrial outer membrane." Armstrong L.C., Saenz A.J., Bornstein P. J. Cell. Biochem. 74:11-22(1999) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MTX2.
[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]	"MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization." Alkhaja A.K., Jans D.C., Nikolov M., Vukotic M., Lytovchenko O., Ludewig F., Schliebs W., Riedel D., Urlaub H., Jakobs S., Deckers M. Mol. Biol. Cell 23:247-257(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH THE MINOS/MITOS COMPLEX.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U46920 Genomic DNA. Translation: AAC50490.1. AF023268 Genomic DNA. Translation: AAC51819.1. AK313863 mRNA. Translation: BAG36591.1. AL713999 Genomic DNA. Translation: CAI95085.1. AL713999 Genomic DNA. Translation: CAI95086.1. CH471121 Genomic DNA. Translation: EAW53105.1. BC001906 mRNA. Translation: AAH01906.2.
IPI	IPI00013678. IPI00394889. IPI00914855.
RefSeq	NP_002446.2. NM_002455.3. NP_942584.1. NM_198883.2.
UniGene	Hs.490874.
3D structure databases
ProteinModelPortal	Q13505.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q13505. 1 interaction.
MINT	MINT-3027869.
STRING	9606.ENSP00000357360.
PTM databases
PhosphoSite	Q13505.
Polymorphism databases
DMDM	215274027.
Proteomic databases
PaxDb	Q13505.
PRIDE	Q13505.
Protocols and materials databases
DNASU	4580.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000316721; ENSP00000317106; ENSG00000173171. ENST00000368376; ENSP00000357360; ENSG00000173171.
GeneID	4580.
KEGG	hsa:4580.
UCSC	uc001fjb.3. human. uc001fjc.3. human.
Organism-specific databases
CTD	4580.
GeneCards	GC01P155178.
H-InvDB	HIX0001121.
HGNC	HGNC:7504. MTX1.
HPA	HPA011543.
MIM	600605. gene.
neXtProt	NX_Q13505.
PharmGKB	PA31306.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG322737.
HOGENOM	HOG000237279.
HOVERGEN	HBG001655.
InParanoid	Q13505.
OMA	YRRRNQI.
OrthoDB	EOG46DM2V.
PhylomeDB	Q13505.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
Gene expression databases
ArrayExpress	Q13505.
Bgee	Q13505.
CleanEx	HS_MTX1.
Genevestigator	Q13505.
GermOnline	ENSG00000173171. Homo sapiens.
Family and domain databases
Gene3D	1.20.1050.10. 1 hit.
InterPro	IPR010987. Glutathione-S-Trfase_C-like. IPR019564. Sam37/metaxin. [Graphical view]
Pfam	PF10568. Tom37. 1 hit. PF11801. Tom37_C. 1 hit. [Graphical view]
SUPFAM	SSF47616. GST_C_like. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	4580.
NextBio	17589.
SOURCE	Search...

Entry information

Entry name

MTX1_HUMAN

Accession

Primary (citable) accession number: Q13505
Secondary accession number(s): B1AVR9 , B1AVS0, B2R9P4, Q9BUU3

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	November 25, 2008
Last modified:	April 3, 2013
This is version 106 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.