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O75746

- CMC1_HUMAN

UniProt

O75746 - CMC1_HUMAN

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Protein
Calcium-binding mitochondrial carrier protein Aralar1
Gene
SLC25A12, ARALAR1
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 bindingi65 – 761211 Publication
Add
BLAST
Calcium bindingi99 – 1101221 Publication
Add
BLAST
Calcium bindingi170 – 1811231 Publication
Add
BLAST

GO - Molecular functioni

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

GO - Biological processi

  1. L-glutamate transport Source: UniProtKB
  2. aspartate transport Source: UniProtKB
  3. carbohydrate metabolic process Source: Reactome
  4. gluconeogenesis Source: Reactome
  5. glucose metabolic process Source: Reactome
  6. malate-aspartate shuttle Source: UniProtKB
  7. response to calcium ion Source: UniProtKB
  8. 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
Synonyms:ARALAR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:10982. SLC25A12.

Subcellular locationi

Mitochondrion inner membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei330 – 34718Helical; Name=1; Reviewed prediction
Add
BLAST
Transmembranei391 – 41020Helical; Name=2; Reviewed prediction
Add
BLAST
Transmembranei434 – 44714Helical; Name=3; Reviewed prediction
Add
BLAST
Transmembranei483 – 50220Helical; Name=4; Reviewed prediction
Add
BLAST
Transmembranei522 – 53918Helical; Name=5; Reviewed prediction
Add
BLAST
Transmembranei579 – 59820Helical; Name=6; Reviewed prediction
Add
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) [MIM:612949]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
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 Aralar1
PRO_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

ArrayExpressiO75746.
BgeeiO75746.
CleanExiHS_SLC25A12.
GenevestigatoriO75746.

Organism-specific databases

HPAiHPA035333.

Interactioni

Protein-protein interaction databases

BioGridi114164. 17 interactions.
IntActiO75746. 10 interactions.
STRINGi9606.ENSP00000388658.

Structurei

3D structure databases

ProteinModelPortaliO75746.
SMRiO75746. Positions 19-285, 330-602.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 4 EF-hand domains.
Contains 3 Solcar repeats.

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG292991.
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. Align

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

MAVKVQTTKR GDPHELRNIF LQYASTEVDG ERYMTPEDFV QRYLGLYNDP    50
NSNPKIVQLL AGVADQTKDG LISYQEFLAF ESVLCAPDSM FIVAFQLFDK 100
SGNGEVTFEN VKEIFGQTII HHHIPFNWDC EFIRLHFGHN RKKHLNYTEF 150
TQFLQELQLE HARQAFALKD KSKSGMISGL DFSDIMVTIR SHMLTPFVEE 200
NLVSAAGGSI SHQVSFSYFN AFNSLLNNME LVRKIYSTLA GTRKDVEVTK 250
EEFAQSAIRY GQVTPLEIDI LYQLADLYNA SGRLTLADIE RIAPLAEGAL 300
PYNLAELQRQ QSPGLGRPIW LQIAESAYRF TLGSVAGAVG ATAVYPIDLV 350
KTRMQNQRGS GSVVGELMYK NSFDCFKKVL RYEGFFGLYR GLIPQLIGVA 400
PEKAIKLTVN DFVRDKFTRR DGSVPLPAEV LAGGCAGGSQ VIFTNPLEIV 450
KIRLQVAGEI TTGPRVSALN VLRDLGIFGL YKGAKACFLR DIPFSAIYFP 500
VYAHCKLLLA DENGHVGGLN LLAAGAMAGV PAASLVTPAD VIKTRLQVAA 550
RAGQTTYSGV IDCFRKILRE EGPSAFWKGT AARVFRSSPQ FGVTLVTYEL 600
LQRWFYIDFG GLKPAGSEPT PKSRIADLPP ANPDHIGGYR LATATFAGIE 650
NKFGLYLPKF KSPSVAVVQP KAAVAATQ 678
Length:678
Mass (Da):74,762
Last modified:September 23, 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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
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.
VSP_054469Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti596 – 5972VT → AH in CAA74834. 1 Publication
Sequence conflicti600 – 6001L → V in CAA74834. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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

EnsembliENST00000392592; ENSP00000376371; ENSG00000115840.
ENST00000422440; ENSP00000388658; ENSG00000115840.
GeneIDi8604.
KEGGihsa:8604.
UCSCiuc002uhh.3. human. [O75746-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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

ProteinModelPortali O75746.
SMRi O75746. Positions 19-285, 330-602.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114164. 17 interactions.
IntActi O75746. 10 interactions.
STRINGi 9606.ENSP00000388658.

Chemistry

DrugBanki DB00128. L-Aspartic Acid.

Protein family/group databases

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

PTM databases

PhosphoSitei O75746.

Proteomic databases

MaxQBi O75746.
PaxDbi O75746.
PRIDEi O75746.

Protocols and materials databases

DNASUi 8604.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000392592 ; ENSP00000376371 ; ENSG00000115840 .
ENST00000422440 ; ENSP00000388658 ; ENSG00000115840 .
GeneIDi 8604.
KEGGi hsa:8604.
UCSCi uc002uhh.3. human. [O75746-1 ]

Organism-specific databases

CTDi 8604.
GeneCardsi GC02M172604.
H-InvDB HIX0002590.
HGNCi HGNC:10982. SLC25A12.
HPAi HPA035333.
MIMi 603667. gene.
612949. phenotype.
neXtProti NX_O75746.
Orphaneti 353217. Epileptic encephalopathy with global cerebral demyelination.
PharmGKBi PA35858.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG292991.
HOGENOMi HOG000180633.
HOVERGENi HBG005350.
InParanoidi O75746.
KOi K15105.
OMAi FESVLCT.
OrthoDBi EOG70GMF1.
PhylomeDBi O75746.
TreeFami TF313209.

Enzyme and pathway databases

Reactomei REACT_118595. Mitochondrial protein import.
REACT_1520. Gluconeogenesis.

Miscellaneous databases

GeneWikii SLC25A12.
GenomeRNAii 8604.
NextBioi 32241.
PROi O75746.
SOURCEi Search...

Gene expression databases

ArrayExpressi O75746.
Bgeei O75746.
CleanExi HS_SLC25A12.
Genevestigatori O75746.

Family and domain databases

Gene3Di 1.10.238.10. 2 hits.
1.50.40.10. 1 hit.
InterProi 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.
[Graphical view ]
Pfami PF13405. EF-hand_6. 1 hit.
PF00153. Mito_carr. 3 hits.
[Graphical view ]
PRINTSi PR00926. MITOCARRIER.
SMARTi SM00054. EFh. 3 hits.
[Graphical view ]
SUPFAMi SSF103506. SSF103506. 1 hit.
PROSITEi PS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

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(1998) [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(2001) [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(2004) [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(2005) [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: 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(1999) [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.

Entry informationi

Entry nameiCMC1_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 137 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 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi