Reviewed, UniProtKB/Swiss-Prot Q13505 (MTX1_HUMAN)

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) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	466 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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. Ref.7
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
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	protein targeting to mitochondrion Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Ref.1 Traceable author statement. Source: ProtInc mitochondrial outer membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
TMBIM4	Q9HC24	1	EBI-1052588,EBI-1045545

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	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: dbSNP rs760077. Ref.5 Ref.6		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. 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. 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: 8660965] [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: 9331372] [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: 14702039] [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: 16710414] [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: 15489334] [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: 10381257] [Abstract] Cited for: INTERACTION WITH MTX2.
[8]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. NP_942584.1.
UniGene	Hs.490874
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q13505. 1 interaction.
STRING	Q13505.
Proteomic databases
PRIDE	Q13505.
Genome annotation databases
Ensembl	ENST00000368376; ENSP00000357360; ENSG00000173171; Homo sapiens. [Genome view]
GeneID	4580.
KEGG	hsa:4580.
Organism-specific databases
CTD	4580.
GeneCards	GC01P153445.
H-InvDB	HIX0001121.
HGNC	HGNC:7504. MTX1.
HPA	HPA011543.
MIM	600605. gene.
PharmGKB	PA31306.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q13505.
OMA	HTFWIDT
Gene expression databases
Bgee	Q13505.
CleanEx	HS_MTX1.
Genevestigator	Q13505.
GermOnline	ENSG00000173171. Homo sapiens.
Family and domain databases
InterPro	IPR010987. Glutathione-S-Trfase_C-like. IPR019564. Mt-OM_transp_Tom37/Metaxin. [Graphical view]
Pfam	PF10568. Tom37. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	November 24, 2009
This is version 74 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.