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Protein

Solute carrier family 25 member 39

Gene

SLC25A39

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

Functioni

Required for normal heme biosynthesis.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Heme biosynthesis, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000013306-MONOMER.

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

HGNCiHGNC:24279. SLC25A39.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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.

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.
MINTiMINT-3064380.
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

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0761. Eukaryota.
ENOG410XQVP. LUCA.
GeneTreeiENSGT00790000123051.
HOVERGENiHBG011439.
InParanoidiQ9BZJ4.
KOiK15119.
OMAiPTHFSGT.
OrthoDBiEOG091G07QQ.
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. 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 → L.5 PublicationsCorresponds to variant rs2011951dbSNPEnsembl.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

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.
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.

3D structure databases

ProteinModelPortaliQ9BZJ4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119645. 4 interactors.
IntActiQ9BZJ4. 1 interactor.
MINTiMINT-3064380.
STRINGi9606.ENSP00000366299.

Protein family/group databases

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

PTM databases

iPTMnetiQ9BZJ4.
PhosphoSitePlusiQ9BZJ4.

Polymorphism and mutation databases

BioMutaiSLC25A39.
DMDMi317373277.

Proteomic databases

MaxQBiQ9BZJ4.
PaxDbiQ9BZJ4.
PeptideAtlasiQ9BZJ4.
PRIDEiQ9BZJ4.

Protocols and materials databases

DNASUi51629.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi51629.
GeneCardsiSLC25A39.
HGNCiHGNC:24279. SLC25A39.
HPAiHPA026785.
MIMi610820. gene.
neXtProtiNX_Q9BZJ4.
OpenTargetsiENSG00000013306.
PharmGKBiPA162403626.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0761. Eukaryota.
ENOG410XQVP. LUCA.
GeneTreeiENSGT00790000123051.
HOVERGENiHBG011439.
InParanoidiQ9BZJ4.
KOiK15119.
OMAiPTHFSGT.
OrthoDBiEOG091G07QQ.
PhylomeDBiQ9BZJ4.
TreeFamiTF314720.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000013306-MONOMER.

Miscellaneous databases

ChiTaRSiSLC25A39. human.
GeneWikiiSLC25A39.
GenomeRNAii51629.
PROiQ9BZJ4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000013306.
CleanExiHS_SLC25A39.
ExpressionAtlasiQ9BZJ4. baseline and differential.
GenevisibleiQ9BZJ4. HS.

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]
ProtoNetiSearch...

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: November 30, 2016
This is version 150 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.