Q9BZJ4 (S2539_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Solute carrier family 25 member 39

Gene names

Name:	SLC25A39
ORF Names:	CGI-69, PRO2163

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	359 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Heme biosynthesis Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	heme biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 359	359	Solute carrier family 25 member 39		PRO_0000090596
Regions
	Transmembrane	15 – 35	21	Helical; Name=1; Potential
	Transmembrane	122 – 142	21	Helical; Name=2; Potential
	Transmembrane	161 – 181	21	Helical; Name=3; Potential
	Transmembrane	215 – 235	21	Helical; Name=4; Potential
	Transmembrane	259 – 279	21	Helical; Name=5; Potential
	Transmembrane	318 – 338	21	Helical; Name=6; Potential
	Repeat	9 – 151	143	Solcar 1
	Repeat	159 – 243	85	Solcar 2
	Repeat	253 – 347	95	Solcar 3
Natural variations
	Alternative sequence	64 – 72	9	LPSSLQSTG → W in isoform 2.		VSP_003264
	Natural variant	247	1	F → L. Ref.1 Ref.3 Ref.5 Ref.6 Ref.7 Corresponds to variant rs2011951 [ dbSNP | Ensembl ].		VAR_012756
Experimental info
	Sequence conflict	266	1	G → R in AAF69618. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (CGI-69L) [UniParc]. Last modified January 11, 2011. Version 2. Checksum: C29C750032E94D0A	FASTA	359	39,249
	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
	Isoform 2 [UniParc]. Checksum: 5939DFB2C73B71CA	FASTA	351	38,564
	10 20 30 40 50 60 MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASEL MPSSRLWSLS 70 80 90 100 110 120 YTKWKCLLYC NGVLEPLYLC PNGARCATWF QDPTRFTGTM DAFVKIVRHE GTRTLWSGLP 130 140 150 160 170 180 ATLVMTVPAT AIYFTAYDQL KAFLCGRALT SDLYAPMVAG ALARLGTVTV ISPLELMRTK 190 200 210 220 230 240 LQAQHVSYRE LGACVRTAVA QGGWRSLWLG WGPTALRDVP FSALYWFNYE LVKSWLNGFR 250 260 270 280 290 300 PKDQTSVGMS FVAGGISGTV AAVLTLPFDV VKTQRQVALG AMEAVRVNPL HVDSTWLLLR 310 320 330 340 350 RIRAESGTKG LFAGFLPRII KAAPSCAIMI STYEFGKSFF QRLNQDRLLG G

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00019477. IPI00743132.
PIR	T43493.
RefSeq	NP_001137252.1. NM_001143780.1. NP_057100.1. NM_016016.2.
UniGene	Hs.514216.
3D structure databases
ProteinModelPortal	Q9BZJ4.
SMR	Q9BZJ4. Positions 14-355.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BZJ4. 1 interaction.
STRING	9606.ENSP00000366299.
PTM databases
PhosphoSite	Q9BZJ4.
Polymorphism databases
DMDM	20137934.
Proteomic databases
PaxDb	Q9BZJ4.
PRIDE	Q9BZJ4.
Protocols and materials databases
DNASU	51629.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000225308; ENSP00000225308; ENSG00000013306. ENST00000377095; ENSP00000366299; ENSG00000013306. ENST00000590194; ENSP00000467681; ENSG00000013306.
GeneID	51629.
KEGG	hsa:51629.
UCSC	uc002igm.2. human. uc002ign.2. human.
Organism-specific databases
CTD	51629.
GeneCards	GC17M042396.
HGNC	HGNC:24279. SLC25A39.
HPA	HPA026785.
MIM	610820. gene.
neXtProt	NX_Q9BZJ4.
PharmGKB	PA162403626.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG276989.
HOVERGEN	HBG011439.
InParanoid	Q9BZJ4.
KO	K15119.
OMA	WSLSYTK.
Gene expression databases
ArrayExpress	Q9BZJ4.
Bgee	Q9BZJ4.
CleanEx	HS_SLC25A39.
Genevestigator	Q9BZJ4.
GermOnline	ENSG00000013306. Homo sapiens.
Family and domain databases
Gene3D	1.50.40.10. 2 hits.
InterPro	IPR018108. Mitochondrial_sb/sol_carrier. IPR023395. Mt_carrier_dom. [Graphical view]
Pfam	PF00153. Mito_carr. 3 hits. [Graphical view]
SUPFAM	SSF103506. Mitoch_carrier. 1 hit.
PROSITE	PS50920. SOLCAR. 3 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SLC25A39. human.
GenomeRNAi	51629.
NextBio	55553.
SOURCE	Search...

Entry information

Entry name

S2539_HUMAN

Accession

Primary (citable) accession number: Q9BZJ4
Secondary accession number(s): A8JZZ2 , D3DX51, D3DX54, Q4V9M1, Q9P182, Q9UF66, Q9Y379

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 11, 2002
Last sequence update:	January 11, 2011
Last modified:	May 1, 2013
This is version 117 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.