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Protein

Solute carrier family 25 member 39

Gene

SLC25A39

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

Functioni

Required for normal heme biosynthesis.By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processHeme 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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000013306.15
HGNCiHGNC:24279 SLC25A39
MIMi610820 gene
neXtProtiNX_Q9BZJ4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei15 – 35Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei122 – 142Helical; Name=2Sequence analysisAdd BLAST21
Transmembranei161 – 181Helical; Name=3Sequence analysisAdd BLAST21
Transmembranei215 – 235Helical; Name=4Sequence analysisAdd BLAST21
Transmembranei259 – 279Helical; Name=5Sequence analysisAdd BLAST21
Transmembranei318 – 338Helical; Name=6Sequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000013306
PharmGKBiPA162403626

Polymorphism and mutation databases

BioMutaiSLC25A39
DMDMi317373277

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000905961 – 359Solute carrier family 25 member 39Add BLAST359

Proteomic databases

MaxQBiQ9BZJ4
PaxDbiQ9BZJ4
PeptideAtlasiQ9BZJ4
PRIDEiQ9BZJ4
ProteomicsDBi79858
79859 [Q9BZJ4-2]

PTM databases

iPTMnetiQ9BZJ4
PhosphoSitePlusiQ9BZJ4

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000013306
CleanExiHS_SLC25A39
ExpressionAtlasiQ9BZJ4 baseline and differential
GenevisibleiQ9BZJ4 HS

Organism-specific databases

HPAiHPA026785

Interactioni

Protein-protein interaction databases

BioGridi119645, 4 interactors
IntActiQ9BZJ4, 1 interactor
STRINGi9606.ENSP00000366299

Structurei

3D structure databases

ProteinModelPortaliQ9BZJ4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati9 – 151Solcar 1Add BLAST143
Repeati159 – 243Solcar 2Add BLAST85
Repeati253 – 347Solcar 3Add BLAST95

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0761 Eukaryota
ENOG410XQVP LUCA
GeneTreeiENSGT00790000123051
HOVERGENiHBG011439
InParanoidiQ9BZJ4
KOiK15119
OMAiDHIYVCQ
OrthoDBiEOG091G07QQ
PhylomeDBiQ9BZJ4
TreeFamiTF314720

Family and domain databases

Gene3Di1.50.40.10, 2 hits
InterProiView protein in InterPro
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
SUPFAMiSSF103506 SSF103506, 2 hits
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti266G → R in AAF69618 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012756247F → L5 PublicationsCorresponds to variant dbSNP:rs2011951Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00326464 – 72LPSSLQSTG → W in isoform 2. 6 Publications9

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_001143780.2 [Q9BZJ4-1]
NP_057100.1, NM_016016.3 [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.3 human [Q9BZJ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiS2539_HUMAN
AccessioniPrimary (citable) accession number: Q9BZJ4
Secondary accession number(s): A8JZZ2
, D3DX51, D3DX54, Q4V9M1, Q9P182, Q9UF66, Q9Y379
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: January 11, 2011
Last modified: June 20, 2018
This is version 159 of the entry and version 2 of the sequence. See 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

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