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Q9BZJ4

- S2539_HUMAN

UniProt

Q9BZJ4 - S2539_HUMAN

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Protein

Solute carrier family 25 member 39

Gene

SLC25A39

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

Required for normal heme biosynthesis.By similarity

GO - Biological processi

  1. heme biosynthetic process Source: UniProtKB-KW
  2. transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Heme biosynthesis, Transport

Protein family/group databases

TCDBi2.A.29.14.8. the mitochondrial carrier (mc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 25 member 39
Gene namesi
ORF Names:CGI-69, PRO2163
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:24279. SLC25A39.

Subcellular locationi

Mitochondrion inner membrane 2 Publications; Multi-pass membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei15 – 3521Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei122 – 14221Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei161 – 18121Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei215 – 23521Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei259 – 27921Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei318 – 33821Helical; Name=6Sequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162403626.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 359359Solute carrier family 25 member 39PRO_0000090596Add
BLAST

Proteomic databases

MaxQBiQ9BZJ4.
PaxDbiQ9BZJ4.
PRIDEiQ9BZJ4.

PTM databases

PhosphoSiteiQ9BZJ4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9BZJ4.
CleanExiHS_SLC25A39.
ExpressionAtlasiQ9BZJ4. baseline and differential.
GenevestigatoriQ9BZJ4.

Organism-specific databases

HPAiHPA026785.

Interactioni

Protein-protein interaction databases

BioGridi119645. 1 interaction.
IntActiQ9BZJ4. 1 interaction.
MINTiMINT-3064380.
STRINGi9606.ENSP00000366299.

Structurei

3D structure databases

ProteinModelPortaliQ9BZJ4.
SMRiQ9BZJ4. Positions 14-355.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati9 – 151143Solcar 1Add
BLAST
Repeati159 – 24385Solcar 2Add
BLAST
Repeati253 – 34795Solcar 3Add
BLAST

Sequence similaritiesi

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG276989.
GeneTreeiENSGT00390000000106.
HOVERGENiHBG011439.
InParanoidiQ9BZJ4.
KOiK15119.
OMAiFRNWIED.
OrthoDBiEOG79KPFV.
PhylomeDBiQ9BZJ4.
TreeFamiTF314720.

Family and domain databases

Gene3Di1.50.40.10. 2 hits.
InterProiIPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
SUPFAMiSSF103506. SSF103506. 2 hits.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BZJ4-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASEL
60 70 80 90 100
MPSSRLWSLS YTKLPSSLQS TGKCLLYCNG VLEPLYLCPN GARCATWFQD
110 120 130 140 150
PTRFTGTMDA FVKIVRHEGT RTLWSGLPAT LVMTVPATAI YFTAYDQLKA
160 170 180 190 200
FLCGRALTSD LYAPMVAGAL ARLGTVTVIS PLELMRTKLQ AQHVSYRELG
210 220 230 240 250
ACVRTAVAQG GWRSLWLGWG PTALRDVPFS ALYWFNYELV KSWLNGFRPK
260 270 280 290 300
DQTSVGMSFV AGGISGTVAA VLTLPFDVVK TQRQVALGAM EAVRVNPLHV
310 320 330 340 350
DSTWLLLRRI RAESGTKGLF AGFLPRIIKA APSCAIMIST YEFGKSFFQR

LNQDRLLGG
Length:359
Mass (Da):39,249
Last modified:January 11, 2011 - v2
Checksum:iC29C750032E94D0A
GO
Isoform 2 (identifier: Q9BZJ4-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:351
Mass (Da):38,564
Checksum:i5939DFB2C73B71CA
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti266 – 2661G → R in AAF69618. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti247 – 2471F → L.5 Publications
Corresponds to variant rs2011951 [ dbSNP | Ensembl ].
VAR_012756

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei64 – 729LPSSLQSTG → W in isoform 2. 6 PublicationsVSP_003264

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11482.1. [Q9BZJ4-2]
CCDS45700.1. [Q9BZJ4-1]
PIRiT43493.
RefSeqiNP_001137252.1. NM_001143780.1. [Q9BZJ4-1]
NP_057100.1. NM_016016.2. [Q9BZJ4-2]
UniGeneiHs.744880.

Genome annotation databases

EnsembliENST00000225308; ENSP00000225308; ENSG00000013306. [Q9BZJ4-2]
ENST00000377095; ENSP00000366299; ENSG00000013306. [Q9BZJ4-1]
ENST00000590194; ENSP00000467681; ENSG00000013306. [Q9BZJ4-2]
GeneIDi51629.
KEGGihsa:51629.
UCSCiuc002igm.2. human. [Q9BZJ4-2]
uc002ign.2. human. [Q9BZJ4-1]

Polymorphism databases

DMDMi317373277.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS11482.1. [Q9BZJ4-2 ]
CCDS45700.1. [Q9BZJ4-1 ]
PIRi T43493.
RefSeqi NP_001137252.1. NM_001143780.1. [Q9BZJ4-1 ]
NP_057100.1. NM_016016.2. [Q9BZJ4-2 ]
UniGenei Hs.744880.

3D structure databases

ProteinModelPortali Q9BZJ4.
SMRi Q9BZJ4. Positions 14-355.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119645. 1 interaction.
IntActi Q9BZJ4. 1 interaction.
MINTi MINT-3064380.
STRINGi 9606.ENSP00000366299.

Protein family/group databases

TCDBi 2.A.29.14.8. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSitei Q9BZJ4.

Polymorphism databases

DMDMi 317373277.

Proteomic databases

MaxQBi Q9BZJ4.
PaxDbi Q9BZJ4.
PRIDEi Q9BZJ4.

Protocols and materials databases

DNASUi 51629.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000225308 ; ENSP00000225308 ; ENSG00000013306 . [Q9BZJ4-2 ]
ENST00000377095 ; ENSP00000366299 ; ENSG00000013306 . [Q9BZJ4-1 ]
ENST00000590194 ; ENSP00000467681 ; ENSG00000013306 . [Q9BZJ4-2 ]
GeneIDi 51629.
KEGGi hsa:51629.
UCSCi uc002igm.2. human. [Q9BZJ4-2 ]
uc002ign.2. human. [Q9BZJ4-1 ]

Organism-specific databases

CTDi 51629.
GeneCardsi GC17M042396.
HGNCi HGNC:24279. SLC25A39.
HPAi HPA026785.
MIMi 610820. gene.
neXtProti NX_Q9BZJ4.
PharmGKBi PA162403626.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG276989.
GeneTreei ENSGT00390000000106.
HOVERGENi HBG011439.
InParanoidi Q9BZJ4.
KOi K15119.
OMAi FRNWIED.
OrthoDBi EOG79KPFV.
PhylomeDBi Q9BZJ4.
TreeFami TF314720.

Miscellaneous databases

ChiTaRSi SLC25A39. human.
GeneWikii SLC25A39.
GenomeRNAii 51629.
NextBioi 55553.
PROi Q9BZJ4.
SOURCEi Search...

Gene expression databases

Bgeei Q9BZJ4.
CleanExi HS_SLC25A39.
ExpressionAtlasi Q9BZJ4. baseline and differential.
Genevestigatori Q9BZJ4.

Family and domain databases

Gene3Di 1.50.40.10. 2 hits.
InterProi IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view ]
Pfami PF00153. Mito_carr. 3 hits.
[Graphical view ]
SUPFAMi SSF103506. SSF103506. 2 hits.
PROSITEi PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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.

Entry informationi

Entry nameiS2539_HUMAN
AccessioniPrimary (citable) accession number: Q9BZJ4
Secondary accession number(s): A8JZZ2
, D3DX51, D3DX54, Q4V9M1, Q9P182, Q9UF66, Q9Y379
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: January 11, 2011
Last modified: October 29, 2014
This is version 130 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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