Q9NZJ7 (MTCH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mitochondrial carrier homolog 1

Alternative name(s):
Presenilin-associated protein

Gene names

Name:	MTCH1
Synonyms:	PSAP
ORF Names:	CGI-64, UNQ1871/PRO4314

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

General annotation (Comments)

Function	Potential mitochondrial transporter. May play a role in apoptosis. Ref.8
Subunit structure	Interacts with PSEN1. Ref.7 Ref.8
Subcellular location	Mitochondrion inner membrane; Multi-pass membrane protein Potential Ref.8.
Tissue specificity	Widely expressed with a predominant expression in brain. Ref.7
Sequence similarities	Belongs to the mitochondrial carrier (TC 2.A.29) family. [View classification] Contains 2 Solcar repeats.
Sequence caution	The sequence AAF07936.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Apoptosis Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing
Domain	Repeat Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	activation of cysteine-type endopeptidase activity involved in apoptotic process Inferred from mutant phenotype Ref.8. Source: UniProtKB neuronal ion channel clustering Non-traceable author statement Ref.7. Source: UniProtKB positive regulation of apoptotic process Inferred from expression pattern Ref.8. Source: UniProtKB regulation of signal transduction Non-traceable author statement Ref.7. Source: UniProtKB transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from mutant phenotype Ref.8. Source: UniProtKB
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q9NZJ7-1)

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: Q9NZJ7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     286-302: Missing.

Isoform 3 (identifier: Q9NZJ7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-201: Missing.
     286-302: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 389	389	Mitochondrial carrier homolog 1		PRO_0000232385
Regions
	Transmembrane	248 – 268	21	Helical; Potential
	Transmembrane	315 – 335	21	Helical; Potential
	Repeat	81 – 176	96	Solcar 1
	Repeat	192 – 280	89	Solcar 2
Amino acid modifications
	Modified residue	381	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 201	201	Missing in isoform 3.		VSP_017881
	Alternative sequence	286 – 302	17	Missing in isoform 2 and isoform 3.		VSP_017882

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 13C37758C4D22F4F	FASTA	389	41,544
	10 20 30 40 50 60 MGASDPEVAP WARGGAAGMA GAGAGAGARG GAAAGVEARA RDPPPAHRAH PRHPRPAAQP 70 80 90 100 110 120 SARRMDGGSG GLGSGDNAPT TEALFVALGA GVTALSHPLL YVKLLIQVGH EPMPPTLGTN 130 140 150 160 170 180 VLGRKVLYLP SFFTYAKYIV QVDGKIGLFR GLSPRLMSNA LSTVTRGSMK KVFPPDEIEQ 190 200 210 220 230 240 VSNKDDMKTS LKKVVKETSY EMMMQCVSRM LAHPLHVISM RCMVQFVGRE AKYSGVLSSI 250 260 270 280 290 300 GKIFKEEGLL GFFVGLIPHL LGDVVFLWGC NLLAHFINAY LVDDSVSDTP GGLGNDQNPG 310 320 330 340 350 360 SQFSQALAIR SYTKFVMGIA VSMLTYPFLL VGDLMAVNNC GLQAGLPPYS PVFKSWIHCW 370 380 KYLSVQGQLF RGSSLLFRRV SSGSCFALE
	Isoform 2 [UniParc]. Checksum: C579F8F4CD688A2F	FASTA	372	39,920
	10 20 30 40 50 60 MGASDPEVAP WARGGAAGMA GAGAGAGARG GAAAGVEARA RDPPPAHRAH PRHPRPAAQP 70 80 90 100 110 120 SARRMDGGSG GLGSGDNAPT TEALFVALGA GVTALSHPLL YVKLLIQVGH EPMPPTLGTN 130 140 150 160 170 180 VLGRKVLYLP SFFTYAKYIV QVDGKIGLFR GLSPRLMSNA LSTVTRGSMK KVFPPDEIEQ 190 200 210 220 230 240 VSNKDDMKTS LKKVVKETSY EMMMQCVSRM LAHPLHVISM RCMVQFVGRE AKYSGVLSSI 250 260 270 280 290 300 GKIFKEEGLL GFFVGLIPHL LGDVVFLWGC NLLAHFINAY LVDDSFSQAL AIRSYTKFVM 310 320 330 340 350 360 GIAVSMLTYP FLLVGDLMAV NNCGLQAGLP PYSPVFKSWI HCWKYLSVQG QLFRGSSLLF 370 RRVSSGSCFA LE
	Isoform 3 [UniParc]. Checksum: FAD41D7FE484D975	FASTA	171	19,058
	10 20 30 40 50 60 MMMQCVSRML AHPLHVISMR CMVQFVGREA KYSGVLSSIG KIFKEEGLLG FFVGLIPHLL 70 80 90 100 110 120 GDVVFLWGCN LLAHFINAYL VDDSFSQALA IRSYTKFVMG IAVSMLTYPF LLVGDLMAVN 130 140 150 160 170 NCGLQAGLPP YSPVFKSWIH CWKYLSVQGQ LFRGSSLLFR RVSSGSCFAL E

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of an evolutionary conserved mitochondrial carrier family from various organisms." Jang J.S., Hahn Y., Park C., Chung J.H. Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (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 2). Tissue: Testis.
[4]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] (ISOFORMS 1 AND 2). Tissue: Brain, Kidney, Muscle and Pancreas.
[7]	"Identification of a novel PSD-95/Dlg/ZO-1 (PDZ)-like protein interacting with the C terminus of presenilin-1." Xu X., Shi Y.-C., Wu X., Gambetti P., Sui D., Cui M.-Z. J. Biol. Chem. 274:32543-32546(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 15-389, TISSUE SPECIFICITY, INTERACTION WITH PSEN1. Tissue: Brain.
[8]	"The novel presenilin-1-associated protein is a proapoptotic mitochondrial protein." Xu X., Shi Y.-C., Gao W., Mao G., Zhao G., Agrawal S., Chisolm G.M., Sui D., Cui M.-Z. J. Biol. Chem. 277:48913-48922(2002) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PSEN1.
[9]	"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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF176006 mRNA. Translation: AAD52644.3. AF192559 mRNA. Translation: AAF12793.3. AY358519 mRNA. Translation: AAQ88883.1. AK315067 mRNA. Translation: BAG37540.1. AL122034 Genomic DNA. Translation: CAI23305.1. AL122034 Genomic DNA. Translation: CAI23306.1. CH471081 Genomic DNA. Translation: EAX03927.1. CH471081 Genomic DNA. Translation: EAX03928.1. BC000702 mRNA. Translation: AAH00702.2. BC006507 mRNA. Translation: AAH06507.1. BC009962 mRNA. Translation: AAH09962.2. BC110914 mRNA. Translation: AAI10915.1. BC153873 mRNA. Translation: AAI53874.1. AF189289 mRNA. Translation: AAF07936.1. Different initiation.
IPI	IPI00386258. IPI00479697. IPI00739665.
RefSeq	NP_001258570.1. NM_001271641.1. NP_055156.1. NM_014341.2.
UniGene	Hs.485262.
3D structure databases
ProteinModelPortal	Q9NZJ7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NZJ7. 3 interactions.
Protein family/group databases
TCDB	2.A.29.25.1. mitochondrial carrier (MC) family.
PTM databases
PhosphoSite	Q9NZJ7.
Polymorphism databases
DMDM	74753085.
Proteomic databases
PaxDb	Q9NZJ7.
PRIDE	Q9NZJ7.
Protocols and materials databases
DNASU	23787.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000373616; ENSP00000362718; ENSG00000137409. ENST00000373627; ENSP00000362730; ENSG00000137409.
GeneID	23787.
KEGG	hsa:23787.
UCSC	uc003onc.1. human. uc003ond.1. human.
Organism-specific databases
CTD	23787.
GeneCards	GC06M036982.
HGNC	HGNC:17586. MTCH1.
HPA	HPA015971.
MIM	610449. gene.
neXtProt	NX_Q9NZJ7.
PharmGKB	PA134958992.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG311439.
HOVERGEN	HBG058632.
InParanoid	Q9NZJ7.
OMA	KVGHEPM.
OrthoDB	EOG44BB2J.
PhylomeDB	Q9NZJ7.
Gene expression databases
ArrayExpress	Q9NZJ7.
Bgee	Q9NZJ7.
CleanEx	HS_MTCH1. HS_PSAP.
Genevestigator	Q9NZJ7.
GermOnline	ENSG00000137409. Homo sapiens.
Family and domain databases
Gene3D	1.50.40.10. 1 hit.
InterPro	IPR018108. Mitochondrial_sb/sol_carrier. IPR023395. Mt_carrier_dom. [Graphical view]
Pfam	PF00153. Mito_carr. 1 hit. [Graphical view]
SUPFAM	SSF103506. Mitoch_carrier. 1 hit.
PROSITE	PS50920. SOLCAR. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MTCH1. human.
GenomeRNAi	23787.
NextBio	46793.
SOURCE	Search...

Entry information

Entry name

MTCH1_HUMAN

Accession

Primary (citable) accession number: Q9NZJ7
Secondary accession number(s): A8KAX5 , B2RCE3, Q6PK60, Q6UX45, Q7L465, Q9BW23, Q9NZR6, Q9UJZ5

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 4, 2006
Last sequence update:	October 1, 2000
Last modified:	April 3, 2013
This is version 90 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.