UniProtKB - O75746 (CMC1_HUMAN)

BLAST

>sp|O75746|CMC1_HUMAN Calcium-binding mitochondrial carrier protein Aralar1 OS=Homo sapiens OX=9606 GN=SLC25A12 PE=1 SV=2
MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLL
AGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTII
HHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGL
DFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLA
GTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGAL
PYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGS
GSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRR
DGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGL
YKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPAD
VIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYEL
LQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKF
KSPSVAVVQPKAAVAATQ

Align

Format
Add to basket Added to basket
History
Entry version 180 (10 Oct 2018)
Sequence version 2 (23 Sep 2008)
Previous versions | rss
Other tutorials and videos
Help video
Feedback

Protein

Calcium-binding mitochondrial carrier protein Aralar1

Gene

SLC25A12

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934). May have a function in the urea cycle (PubMed:11566871).2 Publications

Miscellaneous

Binds to one calcium ion with high affinity.2 Publications

Sites

Feature key	Position(s)	DescriptionActions	Length
Metal bindingⁱ	65	CalciumCombined sources1 Publication	1
Metal bindingⁱ	67	CalciumCombined sources1 Publication	1
Metal bindingⁱ	69	CalciumCombined sources	1
Metal bindingⁱ	71	Calcium; via carbonyl oxygenCombined sources1 Publication	1
Metal bindingⁱ	76	CalciumCombined sources1 Publication	1

Regions

Feature key	Position(s)	DescriptionActions	Length
Calcium bindingⁱ	65 – 76	11 PublicationAdd BLAST	12
Calcium bindingⁱ	99 – 110	2Add BLAST	12
Calcium bindingⁱ	170 – 181	3PROSITE-ProRule annotationAdd BLAST	12

GO - Molecular functionⁱ

acidic amino acid transmembrane transporter activity Source: Reactome
calcium ion binding
Source: UniProtKB
Inferred from direct assayⁱ
- 25410934
- 9722566
identical protein binding
Source: UniProtKB
Inferred from direct assayⁱ
- 25410934
L-aspartate transmembrane transporter activity
Source: UniProtKB
Inferred from direct assayⁱ
- 11566871
L-glutamate transmembrane transporter activity
Source: UniProtKB
Inferred from direct assayⁱ
- 11566871

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

aspartate transmembrane transport
Source: UniProtKB
Inferred from direct assayⁱ
- 11566871
gluconeogenesis Source: Reactome
glutamate biosynthetic process Source: Ensembl
L-glutamate transmembrane transport
Source: UniProtKB
Inferred from direct assayⁱ
- 11566871
malate-aspartate shuttle
Source: UniProtKB
Inferred from direct assayⁱ
- 11566871
negative regulation of glucose catabolic process to lactate via pyruvate Source: Ensembl
positive regulation of ATP biosynthetic process Source: Ensembl
positive regulation of glucose metabolic process Source: Ensembl
positive regulation of myelination Source: Ensembl
response to calcium ion
Source: UniProtKB
Inferred from direct assayⁱ
- 11566871

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Transport
Ligand	Calcium, Metal-binding

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1268020 Mitochondrial protein import R-HSA-70263 Gluconeogenesis

Reactomeⁱ

R-HSA-1268020 Mitochondrial protein import
R-HSA-70263 Gluconeogenesis

Protein family/group databases

TCDBⁱ	2.A.29.14.1 the mitochondrial carrier (mc) family

TCDBⁱ

2.A.29.14.1 the mitochondrial carrier (mc) family

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Calcium-binding mitochondrial carrier protein Aralar1 Alternative name(s): Mitochondrial aspartate glutamate carrier 1 Solute carrier family 25 member 12
Gene namesⁱ	Name:SLC25A12 Synonyms:ARALAR1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000115840.13
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:10982 SLC25A12
MIMⁱ	603667 gene
neXtProtⁱ	NX_O75746

Topology

Feature key	Position(s)	DescriptionActions	Length
Transmembraneⁱ	330 – 347	Helical; Name=11 PublicationAdd BLAST	18
Transmembraneⁱ	391 – 410	Helical; Name=21 PublicationAdd BLAST	20
Transmembraneⁱ	434 – 447	Helical; Name=31 PublicationAdd BLAST	14
Transmembraneⁱ	483 – 502	Helical; Name=41 PublicationAdd BLAST	20
Transmembraneⁱ	522 – 539	Helical; Name=51 PublicationAdd BLAST	18
Transmembraneⁱ	579 – 598	Helical; Name=61 PublicationAdd BLAST	20

Keywords - Cellular componentⁱ

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Epileptic encephalopathy, early infantile, 39 (EIEE39)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	8604
MalaCards human disease database More...MalaCardsⁱ	SLC25A12
MIMⁱ	612949 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000115840
Orphanetⁱ	353217 Epileptic encephalopathy with global cerebral demyelination
PharmGKBⁱ	PA35858

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB00128 L-Aspartic Acid

DrugBankⁱ

DB00128 L-Aspartic Acid

Polymorphism and mutation databases

BioMutaⁱ	SLC25A12

BioMutaⁱ

SLC25A12

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Initiator methionineⁱ		RemovedCombined sources1 Publication
ChainⁱPRO_0000090598	2 – 678	Calcium-binding mitochondrial carrier protein Aralar1Add BLAST		677

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	2	N-acetylalanineCombined sources1 Publication		1

Keywords - PTMⁱ

Acetylation

Proteomic databases

EPDⁱ	O75746
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O75746
PaxDbⁱ	O75746
PeptideAtlas More...PeptideAtlasⁱ	O75746
PRIDEⁱ	O75746
ProteomicsDBⁱ	50177

PTM databases

iPTMnetⁱ	O75746
PhosphoSitePlusⁱ	O75746
SwissPalmⁱ	O75746

Expressionⁱ

Tissue specificityⁱ

Expressed predominantly in the heart and skeletal muscle, weakly in brain and kidney.2 Publications

Gene expression databases

Bgeeⁱ	ENSG00000115840 Expressed in 226 organ(s), highest expression level in muscle of leg
CleanExⁱ	HS_SLC25A12
ExpressionAtlasⁱ	O75746 baseline and differential
Genevisibleⁱ	O75746 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA035333 HPA035334

HPAⁱ

HPA035333
HPA035334

Interactionⁱ

Subunit structureⁱ

Homodimer (via N-terminus).1 Publication

GO - Molecular functionⁱ

identical protein binding
Source: UniProtKB
Inferred from direct assayⁱ
- 25410934

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	114164, 33 interactors
IntActⁱ	O75746, 34 interactors
Molecular INTeraction database More...MINTⁱ	O75746
STRINGⁱ	9606.ENSP00000388658

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	15 – 23	Combined sources	9
Beta strandⁱ	26 – 28	Combined sources	3
Beta strandⁱ	31 – 34	Combined sources	4
Helixⁱ	36 – 40	Combined sources	5
Turnⁱ	41 – 43	Combined sources	3
Helixⁱ	54 – 64	Combined sources	11
Beta strandⁱ	69 – 71	Combined sources	3
Helixⁱ	74 – 84	Combined sources	11
Helixⁱ	89 – 98	Combined sources	10
Helixⁱ	108 – 117	Combined sources	10
Beta strandⁱ	128 – 130	Combined sources	3
Helixⁱ	131 – 137	Combined sources	7
Turnⁱ	138 – 141	Combined sources	4
Helixⁱ	147 – 169	Combined sources	23
Beta strandⁱ	174 – 177	Combined sources	4
Helixⁱ	179 – 189	Combined sources	11
Helixⁱ	191 – 193	Combined sources	3
Helixⁱ	196 – 200	Combined sources	5
Helixⁱ	202 – 205	Combined sources	4
Turnⁱ	206 – 210	Combined sources	5
Beta strandⁱ	212 – 215	Combined sources	4
Helixⁱ	216 – 227	Combined sources	12
Helixⁱ	229 – 238	Combined sources	10
Helixⁱ	250 – 257	Combined sources	8
Turnⁱ	258 – 261	Combined sources	4
Helixⁱ	265 – 276	Combined sources	12
Beta strandⁱ	282 – 284	Combined sources	3
Helixⁱ	286 – 292	Combined sources	7
Beta strandⁱ	300 – 302	Combined sources	3
Turnⁱ	305 – 307	Combined sources	3

Show more details

3D structure databases

ProteinModelPortalⁱ	O75746
SMRⁱ	O75746
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	65 – 76	EF-hand 1PROSITE-ProRule annotationAdd BLAST	12
Domainⁱ	86 – 121	EF-hand 2PROSITE-ProRule annotationAdd BLAST	36
Domainⁱ	125 – 155	EF-hand 3PROSITE-ProRule annotationAdd BLAST	31
Domainⁱ	157 – 192	EF-hand 4PROSITE-ProRule annotationAdd BLAST	36
Repeatⁱ	324 – 416	Solcar 1PROSITE-ProRule annotationAdd BLAST	93
Repeatⁱ	424 – 508	Solcar 2PROSITE-ProRule annotationAdd BLAST	85
Repeatⁱ	516 – 604	Solcar 3PROSITE-ProRule annotationAdd BLAST	89

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	2 – 294	N-terminal domain1 PublicationAdd BLAST	293
Regionⁱ	295 – 310	Linker loop domain1 PublicationAdd BLAST	16
Regionⁱ	320 – 612	Carrier domain1 PublicationAdd BLAST	293
Regionⁱ	613 – 675	C-terminal domain1 PublicationAdd BLAST	63

Domainⁱ

Upon calcium binding, the EF-hand-containing regulatory N-terminal domain binds to the C-terminal domain, opening a vestibule which allows the substrates to be translocated through the carrier domain (PubMed:25410934). In the absence of calcium, the linker loop domain may close the vestibule, which may prevent substrates from entering the carrier domain (PubMed:25410934).1 Publication

Sequence similaritiesⁱ

Belongs to the mitochondrial carrier (TC 2.A.29) family. [View classification]Curated

Keywords - Domainⁱ

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG0751 Eukaryota ENOG410XNRM LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00530000062944
HOGENOMⁱ	HOG000180633
HOVERGENⁱ	HBG005350
InParanoidⁱ	O75746
KEGG Orthology (KO) More...KOⁱ	K15105
OMAⁱ	MQNQRGT
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G08GT
PhylomeDBⁱ	O75746
TreeFamⁱ	TF313209

Family and domain databases

Gene3Dⁱ	1.50.40.10, 1 hit
InterProⁱ	View protein in InterPro IPR011992 EF-hand-dom_pair IPR018247 EF_Hand_1_Ca_BS IPR002048 EF_hand_dom IPR002067 Mit_carrier IPR018108 Mitochondrial_sb/sol_carrier IPR023395 Mt_carrier_dom_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00153 Mito_carr, 3 hits
PRINTSⁱ	PR00926 MITOCARRIER
SMARTⁱ	View protein in SMART SM00054 EFh, 3 hits
SUPFAMⁱ	SSF103506 SSF103506, 1 hit SSF47473 SSF47473, 2 hits
PROSITEⁱ	View protein in PROSITE PS00018 EF_HAND_1, 1 hit PS50222 EF_HAND_2, 2 hits PS50920 SOLCAR, 3 hits

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: O75746-1) [UniParc]FASTA Add to basket

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.

« Hide

        10         20         30         40         50
MAVKVQTTKR GDPHELRNIF LQYASTEVDG ERYMTPEDFV QRYLGLYNDP 
        60         70         80         90        100
NSNPKIVQLL AGVADQTKDG LISYQEFLAF ESVLCAPDSM FIVAFQLFDK 
       110        120        130        140        150
SGNGEVTFEN VKEIFGQTII HHHIPFNWDC EFIRLHFGHN RKKHLNYTEF 
       160        170        180        190        200
TQFLQELQLE HARQAFALKD KSKSGMISGL DFSDIMVTIR SHMLTPFVEE 
       210        220        230        240        250
NLVSAAGGSI SHQVSFSYFN AFNSLLNNME LVRKIYSTLA GTRKDVEVTK 
       260        270        280        290        300
EEFAQSAIRY GQVTPLEIDI LYQLADLYNA SGRLTLADIE RIAPLAEGAL 
       310        320        330        340        350
PYNLAELQRQ QSPGLGRPIW LQIAESAYRF TLGSVAGAVG ATAVYPIDLV 
       360        370        380        390        400
KTRMQNQRGS GSVVGELMYK NSFDCFKKVL RYEGFFGLYR GLIPQLIGVA 
       410        420        430        440        450
PEKAIKLTVN DFVRDKFTRR DGSVPLPAEV LAGGCAGGSQ VIFTNPLEIV 
       460        470        480        490        500
KIRLQVAGEI TTGPRVSALN VLRDLGIFGL YKGAKACFLR DIPFSAIYFP 
       510        520        530        540        550
VYAHCKLLLA DENGHVGGLN LLAAGAMAGV PAASLVTPAD VIKTRLQVAA 
       560        570        580        590        600
RAGQTTYSGV IDCFRKILRE EGPSAFWKGT AARVFRSSPQ FGVTLVTYEL 
       610        620        630        640        650
LQRWFYIDFG GLKPAGSEPT PKSRIADLPP ANPDHIGGYR LATATFAGIE 
       660        670 
NKFGLYLPKF KSPSVAVVQP KAAVAATQ

Length:678

Mass (Da):74,762

Last modified:September 23, 2008 - v2

Checksum:ⁱD00A7D3D4244539F

Isoform 2 (identifier: O75746-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-108: MAVKVQTTKR...DKSGNGEVTF → M

« Hide

        10         20         30         40         50
MENVKEIFGQ TIIHHHIPFN WDCEFIRLHF GHNRKKHLNY TEFTQFLQEL 
        60         70         80         90        100
QLEHARQAFA LKDKSKSGMI SGLDFSDIMV TIRSHMLTPF VEENLVSAAG 
       110        120        130        140        150
GSISHQVSFS YFNAFNSLLN NMELVRKIYS TLAGTRKDVE VTKEEFAQSA 
       160        170        180        190        200
IRYGQVTPLE IDILYQLADL YNASGRLTLA DIERIAPLAE GALPYNLAEL 
       210        220        230        240        250
QRQQSPGLGR PIWLQIAESA YRFTLGSVAG AVGATAVYPI DLVKTRMQNQ 
       260        270        280        290        300
RGSGSVVGEL MYKNSFDCFK KVLRYEGFFG LYRGLIPQLI GVAPEKAIKL 
       310        320        330        340        350
TVNDFVRDKF TRRDGSVPLP AEVLAGGCAG GSQVIFTNPL EIVKIRLQVA 
       360        370        380        390        400
GEITTGPRVS ALNVLRDLGI FGLYKGAKAC FLRDIPFSAI YFPVYAHCKL 
       410        420        430        440        450
LLADENGHVG GLNLLAAGAM AGVPAASLVT PADVIKTRLQ VAARAGQTTY 
       460        470        480        490        500
SGVIDCFRKI LREEGPSAFW KGTAARVFRS SPQFGVTLVT YELLQRWFYI 
       510        520        530        540        550
DFGGLKPAGS EPTPKSRIAD LPPANPDHIG GYRLATATFA GIENKFGLYL 
       560        570 
PKFKSPSVAV VQPKAAVAAT Q

Note: No experimental confirmation available.

Show »

Length:571

Mass (Da):62,720

Checksum:ⁱ76841A88D6370748

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

B4DGK6	B4DGK6_HUMAN	cDNA FLJ57722, highly similar to Ca... cDNA FLJ57722, highly similar to Calcium-binding mitochondrial carrier protein Aralar1	SLC25A12	210	Annotation score:
H0YFB2	H0YFB2_HUMAN	Calcium-binding mitochondrial carri... Calcium-binding mitochondrial carrier protein Aralar1	SLC25A12	175	Annotation score:
F8W9J0	F8W9J0_HUMAN	Calcium-binding mitochondrial carri... Calcium-binding mitochondrial carrier protein Aralar1	SLC25A12	87	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	596 – 597	VT → AH in CAA74834 (PubMed:9722566).Curated		2
Sequence conflictⁱ	600	L → V in CAA74834 (PubMed:9722566).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_071976	353	R → Q in EIEE39; significant loss in ability to transport aspartate or glutamate. 1 PublicationCorresponds to variant dbSNP:rs886037851EnsemblClinVar.	1
Natural variantⁱVAR_047917	473	R → Q. Corresponds to variant dbSNP:rs35565687EnsemblClinVar.	1
Natural variantⁱVAR_063253	590	Q → R in EIEE39; the mutant protein is unable to transport aspartate or glutamate although it is able to integrate normally into the inner mitochondrial membrane. 1 PublicationCorresponds to variant dbSNP:rs121434396EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_054469	1 – 108	MAVKV…GEVTF → M in isoform 2. 1 PublicationAdd BLAST		108

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	Y14494 mRNA Translation: CAA74834.1 AJ496568 mRNA Translation: CAD43090.1 AK091071 mRNA Translation: BAG52276.1 AC015976 Genomic DNA No translation available. AC068039 Genomic DNA Translation: AAY24134.1 AC114745 Genomic DNA No translation available. CH471058 Genomic DNA Translation: EAX11196.1 BC016932 mRNA Translation: AAH16932.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS33327.1 [O75746-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_003696.2, NM_003705.4 [O75746-1]
UniGeneⁱ	Hs.470608

Genome annotation databases

Ensemblⁱ	ENST00000422440; ENSP00000388658; ENSG00000115840 [O75746-1]
GeneIDⁱ	8604
KEGGⁱ	hsa:8604
UCSC genome browser More...UCSCⁱ	uc002uhh.4 human [O75746-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O75746	Calcium-binding mitochondrial carrier protein Aralar1		PONAB		678	UniRef90_O75746
Calcium-binding mitochondrial carrier protein Aralar1		MOUSE		677
Uncharacterized protein		SHEEP		751
Uncharacterized protein		COLAP		700
Calcium-binding mitochondrial carrier protein Aralar1		PTEAL		687
+210
O75746-2	Calcium-binding mitochondrial carrier protein Aralar1-like protein		CROHD		712	UniRef90_O75746-2
Calcium-binding mitochondrial carrier protein Aralar1		CROAD		675
Uncharacterized protein		PELSI		678
Uncharacterized protein		Micrurus lemniscatus lemniscatus		675
Uncharacterized protein (Fragment)		Micrurus lemniscatus carvalhoi		299
+21

Protein	Similar proteins		Species	Score	Length	Source
O75746	Calcium-binding mitochondrial carrier protein Aralar1		PONAB		678	UniRef50_O75746
Calcium-binding mitochondrial carrier protein Aralar1		MOUSE		677
Probable calcium-binding mitochondrial carrier K02F3.2		CAEEL		716
Calcium-binding mitochondrial carrier protein Aralar1		DROME		695
Uncharacterized protein		SHEEP		751
+1400

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	Y14494 mRNA Translation: CAA74834.1 AJ496568 mRNA Translation: CAD43090.1 AK091071 mRNA Translation: BAG52276.1 AC015976 Genomic DNA No translation available. AC068039 Genomic DNA Translation: AAY24134.1 AC114745 Genomic DNA No translation available. CH471058 Genomic DNA Translation: EAX11196.1 BC016932 mRNA Translation: AAH16932.1
CCDSⁱ	CCDS33327.1 [O75746-1]
RefSeqⁱ	NP_003696.2, NM_003705.4 [O75746-1]
UniGeneⁱ	Hs.470608

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	4P5X	X-ray	2.26	A	2-311	[»]
	4P60	X-ray	2.40	A/B	2-311	[»]
ProteinModelPortalⁱ	O75746
SMRⁱ	O75746
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	114164, 33 interactors
IntActⁱ	O75746, 34 interactors
MINTⁱ	O75746
STRINGⁱ	9606.ENSP00000388658

Chemistry databases

DrugBankⁱ	DB00128 L-Aspartic Acid

DrugBankⁱ

DB00128 L-Aspartic Acid

Protein family/group databases

TCDBⁱ	2.A.29.14.1 the mitochondrial carrier (mc) family

TCDBⁱ

2.A.29.14.1 the mitochondrial carrier (mc) family

PTM databases

iPTMnetⁱ	O75746
PhosphoSitePlusⁱ	O75746
SwissPalmⁱ	O75746

Polymorphism and mutation databases

BioMutaⁱ	SLC25A12

BioMutaⁱ

SLC25A12

Proteomic databases

EPDⁱ	O75746
MaxQBⁱ	O75746
PaxDbⁱ	O75746
PeptideAtlasⁱ	O75746
PRIDEⁱ	O75746
ProteomicsDBⁱ	50177

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	8604
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000422440; ENSP00000388658; ENSG00000115840 [O75746-1]
GeneIDⁱ	8604
KEGGⁱ	hsa:8604
UCSCⁱ	uc002uhh.4 human [O75746-1]

Organism-specific databases

CTDⁱ	8604
DisGeNETⁱ	8604
EuPathDBⁱ	HostDB:ENSG00000115840.13
GeneCardsⁱ	SLC25A12
H-InvDBⁱ	HIX0002590
HGNCⁱ	HGNC:10982 SLC25A12
HPAⁱ	HPA035333 HPA035334
MalaCardsⁱ	SLC25A12
MIMⁱ	603667 gene 612949 phenotype
neXtProtⁱ	NX_O75746
OpenTargetsⁱ	ENSG00000115840
Orphanetⁱ	353217 Epileptic encephalopathy with global cerebral demyelination
PharmGKBⁱ	PA35858
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0751 Eukaryota ENOG410XNRM LUCA
GeneTreeⁱ	ENSGT00530000062944
HOGENOMⁱ	HOG000180633
HOVERGENⁱ	HBG005350
InParanoidⁱ	O75746
KOⁱ	K15105
OMAⁱ	MQNQRGT
OrthoDBⁱ	EOG091G08GT
PhylomeDBⁱ	O75746
TreeFamⁱ	TF313209

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1268020 Mitochondrial protein import R-HSA-70263 Gluconeogenesis

Reactomeⁱ

R-HSA-1268020 Mitochondrial protein import
R-HSA-70263 Gluconeogenesis

Miscellaneous databases

ChiTaRSⁱ	SLC25A12 human
GeneWikiⁱ	SLC25A12
GenomeRNAiⁱ	8604
Protein Ontology More...PROⁱ	PR:O75746
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000115840 Expressed in 226 organ(s), highest expression level in muscle of leg
CleanExⁱ	HS_SLC25A12
ExpressionAtlasⁱ	O75746 baseline and differential
Genevisibleⁱ	O75746 HS

Family and domain databases

Gene3Dⁱ	1.50.40.10, 1 hit
InterProⁱ	View protein in InterPro IPR011992 EF-hand-dom_pair IPR018247 EF_Hand_1_Ca_BS IPR002048 EF_hand_dom IPR002067 Mit_carrier IPR018108 Mitochondrial_sb/sol_carrier IPR023395 Mt_carrier_dom_sf
Pfamⁱ	View protein in Pfam PF00153 Mito_carr, 3 hits
PRINTSⁱ	PR00926 MITOCARRIER
SMARTⁱ	View protein in SMART SM00054 EFh, 3 hits
SUPFAMⁱ	SSF103506 SSF103506, 1 hit SSF47473 SSF47473, 2 hits
PROSITEⁱ	View protein in PROSITE PS00018 EF_HAND_1, 1 hit PS50222 EF_HAND_2, 2 hits PS50920 SOLCAR, 3 hits
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	CMC1_HUMAN
Accessionⁱ	O75746Primary (citable) accession number: O75746 Secondary accession number(s): B3KR64, Q96AM8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
	Last sequence update:	September 23, 2008
	Last modified:	October 10, 2018
	This is version 180 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - O75746 (CMC1_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Calcium-binding mitochondrial carrier protein Aralar1

SLC25A12

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

Sites

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Mitochondrion

Mitochondrion

Other locations

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ