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Q9UJS0

- CMC2_HUMAN

UniProt

Q9UJS0 - CMC2_HUMAN

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Protein

Calcium-binding mitochondrial carrier protein Aralar2

Gene

SLC25A13

Organism
Homo sapiens (Human)
Status
Reviewed - 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 bindingi66 – 77121Add
BLAST
Calcium bindingi100 – 111122Add
BLAST
Calcium bindingi171 – 182123Add
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
  4. transporter activity Source: UniProtKB

GO - Biological processi

  1. aspartate transport Source: UniProtKB
  2. ATP biosynthetic process Source: UniProtKB
  3. carbohydrate metabolic process Source: Reactome
  4. cellular respiration Source: UniProtKB
  5. gluconeogenesis Source: Reactome
  6. glucose metabolic process Source: Reactome
  7. L-glutamate transport Source: UniProtKB
  8. malate-aspartate shuttle Source: UniProtKB
  9. response to calcium ion Source: UniProtKB
  10. small molecule metabolic process Source: Reactome
  11. transport Source: UniProtKB
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.29.14.2. the mitochondrial carrier (mc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Calcium-binding mitochondrial carrier protein Aralar2
Alternative name(s):
Citrin
Mitochondrial aspartate glutamate carrier 2
Solute carrier family 25 member 13
Gene namesi
Name:SLC25A13
Synonyms:ARALAR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:10983. SLC25A13.

Subcellular locationi

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

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Citrullinemia 2 (CTLN2) [MIM:603471]: A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) [MIM:605814]: A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti601 – 6011E → K in NICCD. 1 Publication
VAR_016601

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

MIMi603471. phenotype.
605814. phenotype.
Orphaneti247585. Citrullinemia type II.
247598. Neonatal intrahepatic cholestasis due to citrin deficiency.
PharmGKBiPA35859.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 675674Calcium-binding mitochondrial carrier protein Aralar2PRO_0000090600Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Modified residuei353 – 3531N6-acetyllysineBy similarity
Modified residuei372 – 3721N6-acetyllysineBy similarity
Modified residuei484 – 4841N6-acetyllysine; alternateBy similarity
Modified residuei484 – 4841N6-succinyllysine; alternateBy similarity
Modified residuei580 – 5801N6-succinyllysineBy similarity
Modified residuei662 – 6621N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9UJS0.
PaxDbiQ9UJS0.
PRIDEiQ9UJS0.

PTM databases

PhosphoSiteiQ9UJS0.

Expressioni

Tissue specificityi

High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.2 Publications

Gene expression databases

BgeeiQ9UJS0.
CleanExiHS_SLC25A13.
ExpressionAtlasiQ9UJS0. baseline and differential.
GenevestigatoriQ9UJS0.

Organism-specific databases

HPAiHPA018997.

Interactioni

Protein-protein interaction databases

BioGridi115467. 21 interactions.
IntActiQ9UJS0. 28 interactions.
MINTiMINT-3081120.
STRINGi9606.ENSP00000265631.

Structurei

3D structure databases

ProteinModelPortaliQ9UJS0.
SMRiQ9UJS0. Positions 19-295, 332-604.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei332 – 34918Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei393 – 41220Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei436 – 44914Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei485 – 50420Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei524 – 54118Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei581 – 60020Helical; Name=6Sequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini51 – 8636EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini87 – 12236EF-hand 2PROSITE-ProRule annotationAdd
BLAST
Domaini125 – 15733EF-hand 3PROSITE-ProRule annotationAdd
BLAST
Domaini158 – 19336EF-hand 4PROSITE-ProRule annotationAdd
BLAST
Repeati326 – 41893Solcar 1Add
BLAST
Repeati426 – 51085Solcar 2Add
BLAST
Repeati518 – 60689Solcar 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.
InParanoidiQ9UJS0.
KOiK15105.
OMAiCDEFEAV.
OrthoDBiEOG70GMF1.
PhylomeDBiQ9UJS0.
TreeFamiTF313209.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
1.50.40.10. 1 hit.
InterProiIPR029658. Aralar2.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PANTHERiPTHR24089:SF265. PTHR24089:SF265. 1 hit.
PfamiPF13405. EF-hand_6. 1 hit.
PF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50222. 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. Align

Isoform 1 (identifier: Q9UJS0-1) [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
MAAAKVALTK RADPAELRTI FLKYASIEKN GEFFMSPNDF VTRYLNIFGE
60 70 80 90 100
SQPNPKTVEL LSGVVDQTKD GLISFQEFVA FESVLCAPDA LFMVAFQLFD
110 120 130 140 150
KAGKGEVTFE DVKQVFGQTT IHQHIPFNWD SEFVQLHFGK ERKRHLTYAE
160 170 180 190 200
FTQFLLEIQL EHAKQAFVQR DNARTGRVTA IDFRDIMVTI RPHVLTPFVE
210 220 230 240 250
ECLVAAAGGT TSHQVSFSYF NGFNSLLNNM ELIRKIYSTL AGTRKDVEVT
260 270 280 290 300
KEEFVLAAQK FGQVTPMEVD ILFQLADLYE PRGRMTLADI ERIAPLEEGT
310 320 330 340 350
LPFNLAEAQR QKASGDSARP VLLQVAESAY RFGLGSVAGA VGATAVYPID
360 370 380 390 400
LVKTRMQNQR STGSFVGELM YKNSFDCFKK VLRYEGFFGL YRGLLPQLLG
410 420 430 440 450
VAPEKAIKLT VNDFVRDKFM HKDGSVPLAA EILAGGCAGG SQVIFTNPLE
460 470 480 490 500
IVKIRLQVAG EITTGPRVSA LSVVRDLGFF GIYKGAKACF LRDIPFSAIY
510 520 530 540 550
FPCYAHVKAS FANEDGQVSP GSLLLAGAIA GMPAASLVTP ADVIKTRLQV
560 570 580 590 600
AARAGQTTYS GVIDCFRKIL REEGPKALWK GAGARVFRSS PQFGVTLLTY
610 620 630 640 650
ELLQRWFYID FGGVKPMGSE PVPKSRINLP APNPDHVGGY KLAVATFAGI
660 670
ENKFGLYLPL FKPSVSTSKA IGGGP
Length:675
Mass (Da):74,176
Last modified:February 21, 2001 - v2
Checksum:iAD07EDBC6C68989B
GO
Isoform 2 (identifier: Q9UJS0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     311-311: Q → QQ

Show »
Length:676
Mass (Da):74,304
Checksum:iDE2CB869F95E5238
GO

Sequence cautioni

The sequence AAB67049.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence AAB70112.1 differs from that shown. Reason: Erroneous gene model prediction.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti231 – 2322EL → VH in CAB62206. (PubMed:10642534)Curated
Sequence conflicti532 – 5321M → T in CAB62206. (PubMed:10642534)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti141 – 1411E → K.
Corresponds to variant rs1131697 [ dbSNP | Ensembl ].
VAR_050126
Natural varianti232 – 2321L → I.
Corresponds to variant rs10255762 [ dbSNP | Ensembl ].
VAR_050127
Natural varianti601 – 6011E → K in NICCD. 1 Publication
VAR_016601

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei311 – 3111Q → QQ in isoform 2. 1 PublicationVSP_043747

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF118838 mRNA. Translation: AAD38501.1.
Y17571 mRNA. Translation: CAB62206.1.
AJ496569 mRNA. Translation: CAD43091.1.
AC002540 Genomic DNA. Translation: AAB70112.1. Sequence problems.
AC002450 Genomic DNA. Translation: AAB67049.1. Sequence problems.
AC004458 Genomic DNA. No translation available.
AC084368 Genomic DNA. No translation available.
AC096775 Genomic DNA. No translation available.
CH471091 Genomic DNA. Translation: EAW76748.1.
BC006566 mRNA. Translation: AAH06566.1.
AH009104 Genomic DNA. Translation: AAF28473.1.
CCDSiCCDS55130.1. [Q9UJS0-2]
CCDS5645.1. [Q9UJS0-1]
RefSeqiNP_001153682.1. NM_001160210.1. [Q9UJS0-2]
NP_055066.1. NM_014251.2. [Q9UJS0-1]
UniGeneiHs.489190.

Genome annotation databases

EnsembliENST00000265631; ENSP00000265631; ENSG00000004864. [Q9UJS0-1]
ENST00000416240; ENSP00000400101; ENSG00000004864. [Q9UJS0-2]
GeneIDi10165.
KEGGihsa:10165.
UCSCiuc003uof.4. human. [Q9UJS0-1]
uc003uog.4. human. [Q9UJS0-2]

Polymorphism databases

DMDMi13124095.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF118838 mRNA. Translation: AAD38501.1 .
Y17571 mRNA. Translation: CAB62206.1 .
AJ496569 mRNA. Translation: CAD43091.1 .
AC002540 Genomic DNA. Translation: AAB70112.1 . Sequence problems.
AC002450 Genomic DNA. Translation: AAB67049.1 . Sequence problems.
AC004458 Genomic DNA. No translation available.
AC084368 Genomic DNA. No translation available.
AC096775 Genomic DNA. No translation available.
CH471091 Genomic DNA. Translation: EAW76748.1 .
BC006566 mRNA. Translation: AAH06566.1 .
AH009104 Genomic DNA. Translation: AAF28473.1 .
CCDSi CCDS55130.1. [Q9UJS0-2 ]
CCDS5645.1. [Q9UJS0-1 ]
RefSeqi NP_001153682.1. NM_001160210.1. [Q9UJS0-2 ]
NP_055066.1. NM_014251.2. [Q9UJS0-1 ]
UniGenei Hs.489190.

3D structure databases

ProteinModelPortali Q9UJS0.
SMRi Q9UJS0. Positions 19-295, 332-604.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115467. 21 interactions.
IntActi Q9UJS0. 28 interactions.
MINTi MINT-3081120.
STRINGi 9606.ENSP00000265631.

Chemistry

DrugBanki DB00128. L-Aspartic Acid.

Protein family/group databases

TCDBi 2.A.29.14.2. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSitei Q9UJS0.

Polymorphism databases

DMDMi 13124095.

Proteomic databases

MaxQBi Q9UJS0.
PaxDbi Q9UJS0.
PRIDEi Q9UJS0.

Protocols and materials databases

DNASUi 10165.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265631 ; ENSP00000265631 ; ENSG00000004864 . [Q9UJS0-1 ]
ENST00000416240 ; ENSP00000400101 ; ENSG00000004864 . [Q9UJS0-2 ]
GeneIDi 10165.
KEGGi hsa:10165.
UCSCi uc003uof.4. human. [Q9UJS0-1 ]
uc003uog.4. human. [Q9UJS0-2 ]

Organism-specific databases

CTDi 10165.
GeneCardsi GC07M095749.
GeneReviewsi SLC25A13.
H-InvDB HIX0167840.
HGNCi HGNC:10983. SLC25A13.
HPAi HPA018997.
MIMi 603471. phenotype.
603859. gene.
605814. phenotype.
neXtProti NX_Q9UJS0.
Orphaneti 247585. Citrullinemia type II.
247598. Neonatal intrahepatic cholestasis due to citrin deficiency.
PharmGKBi PA35859.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG292991.
GeneTreei ENSGT00530000062944.
HOGENOMi HOG000180633.
HOVERGENi HBG005350.
InParanoidi Q9UJS0.
KOi K15105.
OMAi CDEFEAV.
OrthoDBi EOG70GMF1.
PhylomeDBi Q9UJS0.
TreeFami TF313209.

Enzyme and pathway databases

Reactomei REACT_118595. Mitochondrial protein import.
REACT_1520. Gluconeogenesis.

Miscellaneous databases

ChiTaRSi SLC25A13. human.
GenomeRNAii 10165.
NextBioi 38486.
PROi Q9UJS0.
SOURCEi Search...

Gene expression databases

Bgeei Q9UJS0.
CleanExi HS_SLC25A13.
ExpressionAtlasi Q9UJS0. baseline and differential.
Genevestigatori Q9UJS0.

Family and domain databases

Gene3Di 1.10.238.10. 2 hits.
1.50.40.10. 1 hit.
InterProi IPR029658. Aralar2.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view ]
PANTHERi PTHR24089:SF265. PTHR24089:SF265. 1 hit.
Pfami PF13405. EF-hand_6. 1 hit.
PF00153. Mito_carr. 3 hits.
[Graphical view ]
PRINTSi PR00926. MITOCARRIER.
SMARTi SM00054. EFh. 2 hits.
[Graphical view ]
SUPFAMi SSF103506. SSF103506. 1 hit.
PROSITEi PS50222. EF_HAND_2. 2 hits.
PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), INVOLVEMENT IN CTLN2, TISSUE SPECIFICITY.
  2. "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues."
    Del Arco A., Agudo M., Satrustegui J.
    Biochem. J. 345:725-732(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, CALCIUM-BINDING.
    Tissue: Liver.
  3. "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(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION.
  4. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [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(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Uterus.
  7. "Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue."
    Sinasac D.S., Crackower M.A., Lee J.R., Kobayashi K., Saheki T., Scherer S.W., Tsui L.-C.
    Genomics 62:289-292(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 6-251, INVOLVEMENT IN CTLN2.
  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. "Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations."
    Yamaguchi N., Kobayashi K., Yasuda T., Nishi I., Iijima M., Nakagawa M., Osame M., Kondo I., Saheki T.
    Hum. Mutat. 19:122-130(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NICCD LYS-601.

Entry informationi

Entry nameiCMC2_HUMAN
AccessioniPrimary (citable) accession number: Q9UJS0
Secondary accession number(s): O14566
, O14575, Q546F9, Q9NZW1, Q9UNI7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 21, 2001
Last modified: October 29, 2014
This is version 148 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3