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Protein

Calcium-binding mitochondrial carrier protein Aralar1

Gene

SLC25A12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi65 – 76121Add
BLAST
Calcium bindingi99 – 110122Add
BLAST
Calcium bindingi170 – 181123Add
BLAST

GO - Molecular functioni

  1. calcium ion binding Source: UniProtKB
  2. L-aspartate transmembrane transporter activity Source: UniProtKB
  3. L-glutamate transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  1. aspartate transport Source: UniProtKB
  2. carbohydrate metabolic process Source: Reactome
  3. gluconeogenesis Source: Reactome
  4. glucose metabolic process Source: Reactome
  5. L-aspartate transmembrane transport Source: GOC
  6. L-glutamate transmembrane transport Source: GOC
  7. L-glutamate transport Source: UniProtKB
  8. malate-aspartate shuttle Source: UniProtKB
  9. pathogenesis Source: Reactome
  10. response to calcium ion Source: UniProtKB
  11. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_118595. Mitochondrial protein import.
REACT_1520. Gluconeogenesis.

Protein family/group databases

TCDBi2.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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:10982. SLC25A12.

Subcellular locationi

Mitochondrion inner membrane 1 Publication; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei330 – 34718Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei391 – 41020Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei434 – 44714Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei483 – 50220Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei522 – 53918Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei579 – 59820Helical; Name=6Sequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB
  2. mitochondrial inner membrane Source: Reactome
  3. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Global cerebral hypomyelination (GCHM)2 Publications

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

Disease descriptionA disorder with onset in infancy and characterized by severe psychomotor retardation, hypotonia, seizures, hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected.

See also OMIM:612949
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti353 – 3531R → Q in GCHM; significant loss in ability to transport aspartate or glutamate. 1 Publication
VAR_071976
Natural varianti590 – 5901Q → R in GCHM; the mutant protein is unable to transport aspartate or glutamate although it is able to integrate normally into the inner mitochondrial membrane. 1 Publication
VAR_063253

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi612949. phenotype.
Orphaneti353217. Epileptic encephalopathy with global cerebral demyelination.
PharmGKBiPA35858.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 678677Calcium-binding mitochondrial carrier protein Aralar1PRO_0000090598Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiO75746.
PaxDbiO75746.
PRIDEiO75746.

PTM databases

PhosphoSiteiO75746.

Expressioni

Tissue specificityi

High levels in heart and skeletal muscle, low in brain and very low in kidney.2 Publications

Gene expression databases

BgeeiO75746.
CleanExiHS_SLC25A12.
ExpressionAtlasiO75746. baseline and differential.
GenevestigatoriO75746.

Organism-specific databases

HPAiHPA035333.
HPA035334.

Interactioni

Protein-protein interaction databases

BioGridi114164. 19 interactions.
IntActiO75746. 10 interactions.
STRINGi9606.ENSP00000388658.

Structurei

Secondary structure

1
678
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi15 – 239Combined sources
Beta strandi26 – 283Combined sources
Beta strandi31 – 344Combined sources
Helixi36 – 405Combined sources
Turni41 – 433Combined sources
Helixi54 – 6411Combined sources
Beta strandi69 – 713Combined sources
Helixi74 – 8411Combined sources
Helixi89 – 9810Combined sources
Helixi108 – 11710Combined sources
Beta strandi128 – 1303Combined sources
Helixi131 – 1377Combined sources
Turni138 – 1414Combined sources
Helixi147 – 16923Combined sources
Beta strandi174 – 1774Combined sources
Helixi179 – 18911Combined sources
Helixi191 – 1933Combined sources
Helixi196 – 2005Combined sources
Helixi202 – 2054Combined sources
Turni206 – 2105Combined sources
Beta strandi212 – 2154Combined sources
Helixi216 – 22712Combined sources
Helixi229 – 23810Combined sources
Helixi250 – 2578Combined sources
Turni258 – 2614Combined sources
Helixi265 – 27612Combined sources
Beta strandi282 – 2843Combined sources
Helixi286 – 2927Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4P5XX-ray2.26A2-311[»]
4P60X-ray2.40A/B2-311[»]
ProteinModelPortaliO75746.
SMRiO75746. Positions 12-156, 159-188, 330-602.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini65 – 7612EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini86 – 12136EF-hand 2PROSITE-ProRule annotationAdd
BLAST
Domaini125 – 15531EF-hand 3PROSITE-ProRule annotationAdd
BLAST
Domaini157 – 19236EF-hand 4PROSITE-ProRule annotationAdd
BLAST
Repeati324 – 41693Solcar 1Add
BLAST
Repeati424 – 50885Solcar 2Add
BLAST
Repeati516 – 60489Solcar 3Add
BLAST

Sequence similaritiesi

Contains 4 EF-hand domains.PROSITE-ProRule annotation
Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG292991.
GeneTreeiENSGT00530000062944.
HOGENOMiHOG000180633.
HOVERGENiHBG005350.
InParanoidiO75746.
KOiK15105.
OMAiFESVLCT.
OrthoDBiEOG70GMF1.
PhylomeDBiO75746.
TreeFamiTF313209.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
1.50.40.10. 1 hit.
InterProiIPR011992. 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.
[Graphical view]
PfamiPF13405. EF-hand_6. 1 hit.
PF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS50920. SOLCAR. 3 hits.
[Graphical view]

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. AlignAdd to basket

Isoform 1 (identifier: O75746-1) [UniParc]FASTAAdd 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 22, 2008 - v2
Checksum:iD00A7D3D4244539F
GO
Isoform 2 (identifier: O75746-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.

Show »
Length:571
Mass (Da):62,720
Checksum:i76841A88D6370748
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti596 – 5972VT → AH in CAA74834 (PubMed:9722566).Curated
Sequence conflicti600 – 6001L → V in CAA74834 (PubMed:9722566).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti353 – 3531R → Q in GCHM; significant loss in ability to transport aspartate or glutamate. 1 Publication
VAR_071976
Natural varianti473 – 4731R → Q.
Corresponds to variant rs35565687 [ dbSNP | Ensembl ].
VAR_047917
Natural varianti590 – 5901Q → R in GCHM; the mutant protein is unable to transport aspartate or glutamate although it is able to integrate normally into the inner mitochondrial membrane. 1 Publication
VAR_063253

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 108108MAVKV…GEVTF → M in isoform 2. 1 PublicationVSP_054469Add
BLAST

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.
CCDSiCCDS33327.1. [O75746-1]
RefSeqiNP_003696.2. NM_003705.4. [O75746-1]
UniGeneiHs.470608.

Genome annotation databases

EnsembliENST00000422440; ENSP00000388658; ENSG00000115840. [O75746-1]
GeneIDi8604.
KEGGihsa:8604.
UCSCiuc002uhh.3. human. [O75746-1]
uc010fqh.3. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS33327.1. [O75746-1]
RefSeqiNP_003696.2. NM_003705.4. [O75746-1]
UniGeneiHs.470608.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4P5XX-ray2.26A2-311[»]
4P60X-ray2.40A/B2-311[»]
ProteinModelPortaliO75746.
SMRiO75746. Positions 12-156, 159-188, 330-602.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114164. 19 interactions.
IntActiO75746. 10 interactions.
STRINGi9606.ENSP00000388658.

Chemistry

DrugBankiDB00128. L-Aspartic Acid.

Protein family/group databases

TCDBi2.A.29.14.1. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSiteiO75746.

Proteomic databases

MaxQBiO75746.
PaxDbiO75746.
PRIDEiO75746.

Protocols and materials databases

DNASUi8604.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000422440; ENSP00000388658; ENSG00000115840. [O75746-1]
GeneIDi8604.
KEGGihsa:8604.
UCSCiuc002uhh.3. human. [O75746-1]
uc010fqh.3. human.

Organism-specific databases

CTDi8604.
GeneCardsiGC02M172604.
H-InvDBHIX0002590.
HGNCiHGNC:10982. SLC25A12.
HPAiHPA035333.
HPA035334.
MIMi603667. gene.
612949. phenotype.
neXtProtiNX_O75746.
Orphaneti353217. Epileptic encephalopathy with global cerebral demyelination.
PharmGKBiPA35858.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG292991.
GeneTreeiENSGT00530000062944.
HOGENOMiHOG000180633.
HOVERGENiHBG005350.
InParanoidiO75746.
KOiK15105.
OMAiFESVLCT.
OrthoDBiEOG70GMF1.
PhylomeDBiO75746.
TreeFamiTF313209.

Enzyme and pathway databases

ReactomeiREACT_118595. Mitochondrial protein import.
REACT_1520. Gluconeogenesis.

Miscellaneous databases

ChiTaRSiSLC25A12. human.
GeneWikiiSLC25A12.
GenomeRNAii8604.
NextBioi32241.
PROiO75746.
SOURCEiSearch...

Gene expression databases

BgeeiO75746.
CleanExiHS_SLC25A12.
ExpressionAtlasiO75746. baseline and differential.
GenevestigatoriO75746.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
1.50.40.10. 1 hit.
InterProiIPR011992. 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.
[Graphical view]
PfamiPF13405. EF-hand_6. 1 hit.
PF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain."
    Del Arco A., Satrustegui J.
    J. Biol. Chem. 273:23327-23334(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, CALCIUM-BINDING.
    Tissue: Heart.
  2. "Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria."
    Palmieri L., Pardo B., Lasorsa F.M., del Arco A., Kobayashi K., Iijima M., Runswick M.J., Walker J.E., Saheki T., Satrustegui J., Palmieri F.
    EMBO J. 20:5060-5069(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
    Tissue: Heart.
  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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Caudate nucleus.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. 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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lymph.
  7. "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein."
    Kobayashi K., Sinasac D.S., Iijima M., Boright A.P., Begum L., Lee J.R., Yasuda T., Ikeda S., Hirano R., Terazono H., Crackower M.A., Kondo I., Tsui L.-C., Scherer S.W., Saheki T.
    Nat. Genet. 22:159-163(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  10. Cited for: VARIANT GCHM ARG-590, CHARACTERIZATION OF VARIANT GCHM ARG-590.
  11. Cited for: VARIANT GCHM GLN-353, CHARACTERIZATION OF VARIANT GCHM GLN-353.

Entry informationi

Entry nameiCMC1_HUMAN
AccessioniPrimary (citable) accession number: O75746
Secondary accession number(s): B3KR64, Q96AM8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2001
Last sequence update: September 22, 2008
Last modified: March 3, 2015
This is version 143 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Miscellaneous

Binds calcium.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.