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Q9BZJ4 (S2539_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Solute carrier family 25 member 39
Gene names
Name:SLC25A39
ORF Names:CGI-69, PRO2163
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length359 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Required for normal heme biosynthesis By similarity.

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein Ref.1 Ref.8.

Tissue specificity

Expressed in many tissues. Abundant in testis and kidney. Ref.1

Sequence similarities

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

Contains 3 Solcar repeats.

Sequence caution

The sequence AAF69618.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BZJ4-1)

Also known as: CGI-69L;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9BZJ4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     64-72: LPSSLQSTG → W

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 359359Solute carrier family 25 member 39
PRO_0000090596

Regions

Transmembrane15 – 3521Helical; Name=1; Potential
Transmembrane122 – 14221Helical; Name=2; Potential
Transmembrane161 – 18121Helical; Name=3; Potential
Transmembrane215 – 23521Helical; Name=4; Potential
Transmembrane259 – 27921Helical; Name=5; Potential
Transmembrane318 – 33821Helical; Name=6; Potential
Repeat9 – 151143Solcar 1
Repeat159 – 24385Solcar 2
Repeat253 – 34795Solcar 3

Natural variations

Alternative sequence64 – 729LPSSLQSTG → W in isoform 2.
VSP_003264
Natural variant2471F → L. Ref.1 Ref.3 Ref.5 Ref.6 Ref.7
Corresponds to variant rs2011951 [ dbSNP | Ensembl ].
VAR_012756

Experimental info

Sequence conflict2661G → R in AAF69618. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (CGI-69L) [UniParc].

Last modified January 11, 2011. Version 2.
Checksum: C29C750032E94D0A

FASTA35939,249
        10         20         30         40         50         60 
MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASEL MPSSRLWSLS 

        70         80         90        100        110        120 
YTKLPSSLQS TGKCLLYCNG VLEPLYLCPN GARCATWFQD PTRFTGTMDA FVKIVRHEGT 

       130        140        150        160        170        180 
RTLWSGLPAT LVMTVPATAI YFTAYDQLKA FLCGRALTSD LYAPMVAGAL ARLGTVTVIS 

       190        200        210        220        230        240 
PLELMRTKLQ AQHVSYRELG ACVRTAVAQG GWRSLWLGWG PTALRDVPFS ALYWFNYELV 

       250        260        270        280        290        300 
KSWLNGFRPK DQTSVGMSFV AGGISGTVAA VLTLPFDVVK TQRQVALGAM EAVRVNPLHV 

       310        320        330        340        350 
DSTWLLLRRI RAESGTKGLF AGFLPRIIKA APSCAIMIST YEFGKSFFQR LNQDRLLGG 

« Hide

Isoform 2 [UniParc].

Checksum: 5939DFB2C73B71CA
Show »

FASTA35138,564

References

« Hide 'large scale' references
[1]"Overexpression of the human 2-oxoglutarate carrier lowers mitochondrial membrane potential in HEK-293 cells: contrast with the unique cold-induced mitochondrial carrier CGI-69."
Yu X.X., Lewin D.A., Zhong A., Brush J., Schow P.W., Sherwood S.W., Pan G., Adams S.H.
Biochem. J. 353:369-375(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT LEU-247.
Tissue: Liver.
[2]"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LEU-247.
Tissue: Testis.
[4]"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. expand/collapse author list , 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] (ISOFORMS 1 AND 2).
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-247.
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-247.
Tissue: Brain, Cervix and Colon.
[7]"Functional prediction of the coding sequences of 79 new genes deduced by analysis of cDNA clones from human fetal liver."
Zhang C., Yu Y., Zhang S., Wei H., Zhang Y., Zhou G., Bi J., Liu M., He F.
Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 14-359 (ISOFORM 2), VARIANT LEU-247.
Tissue: Fetal liver.
[8]"Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing."
Simpson J.C., Wellenreuther R., Poustka A., Pepperkok R., Wiemann S.
EMBO Rep. 1:287-292(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF317711 mRNA. Translation: AAG60687.1.
AF151827 mRNA. Translation: AAD34064.1.
AL133584 mRNA. Translation: CAB63728.1.
AK026060 mRNA. Translation: BAB15341.1.
AK289357 mRNA. Translation: BAF82046.1.
CH471178 Genomic DNA. Translation: EAW51602.1.
CH471178 Genomic DNA. Translation: EAW51603.1.
CH471178 Genomic DNA. Translation: EAW51604.1.
CH471178 Genomic DNA. Translation: EAW51605.1.
CH471178 Genomic DNA. Translation: EAW51606.1.
CH471178 Genomic DNA. Translation: EAW51607.1.
BC001398 mRNA. Translation: AAH01398.1.
BC009330 mRNA. Translation: AAH09330.1.
BC096819 mRNA. Translation: AAH96819.1.
AF119864 mRNA. Translation: AAF69618.1. Different initiation.
CCDSCCDS11482.1. [Q9BZJ4-2]
CCDS45700.1. [Q9BZJ4-1]
PIRT43493.
RefSeqNP_001137252.1. NM_001143780.1. [Q9BZJ4-1]
NP_057100.1. NM_016016.2. [Q9BZJ4-2]
UniGeneHs.744880.

3D structure databases

ProteinModelPortalQ9BZJ4.
SMRQ9BZJ4. Positions 14-355.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119645. 1 interaction.
IntActQ9BZJ4. 1 interaction.
MINTMINT-3064380.
STRING9606.ENSP00000366299.

Protein family/group databases

TCDB2.A.29.14.8. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSiteQ9BZJ4.

Polymorphism databases

DMDM317373277.

Proteomic databases

MaxQBQ9BZJ4.
PaxDbQ9BZJ4.
PRIDEQ9BZJ4.

Protocols and materials databases

DNASU51629.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000225308; ENSP00000225308; ENSG00000013306. [Q9BZJ4-2]
ENST00000377095; ENSP00000366299; ENSG00000013306. [Q9BZJ4-1]
ENST00000590194; ENSP00000467681; ENSG00000013306. [Q9BZJ4-2]
GeneID51629.
KEGGhsa:51629.
UCSCuc002igm.2. human. [Q9BZJ4-2]
uc002ign.2. human. [Q9BZJ4-1]

Organism-specific databases

CTD51629.
GeneCardsGC17M042396.
HGNCHGNC:24279. SLC25A39.
HPAHPA026785.
MIM610820. gene.
neXtProtNX_Q9BZJ4.
PharmGKBPA162403626.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG276989.
HOVERGENHBG011439.
InParanoidQ9BZJ4.
KOK15119.
OMAFRNWIED.
OrthoDBEOG79KPFV.
PhylomeDBQ9BZJ4.
TreeFamTF314720.

Gene expression databases

ArrayExpressQ9BZJ4.
BgeeQ9BZJ4.
CleanExHS_SLC25A39.
GenevestigatorQ9BZJ4.

Family and domain databases

Gene3D1.50.40.10. 2 hits.
InterProIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMSSF103506. SSF103506. 2 hits.
PROSITEPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC25A39. human.
GeneWikiSLC25A39.
GenomeRNAi51629.
NextBio55553.
PROQ9BZJ4.
SOURCESearch...

Entry information

Entry nameS2539_HUMAN
AccessionPrimary (citable) accession number: Q9BZJ4
Secondary accession number(s): A8JZZ2 expand/collapse secondary AC list , D3DX51, D3DX54, Q4V9M1, Q9P182, Q9UF66, Q9Y379
Entry history
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 128 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM