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Protein

Solute carrier family 25 member 48

Gene

SLC25A48

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

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transport

Protein family/group databases

TCDBi2.A.29.8.8. the mitochondrial carrier (mc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 25 member 48
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:30451. SLC25A48.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei9 – 2921Helical; Name=1Sequence analysisAdd
BLAST
Transmembranei61 – 8121Helical; Name=2Sequence analysisAdd
BLAST
Transmembranei107 – 12721Helical; Name=3Sequence analysisAdd
BLAST
Transmembranei189 – 20921Helical; Name=4Sequence analysisAdd
BLAST
Transmembranei217 – 23721Helical; Name=5Sequence analysisAdd
BLAST
Transmembranei277 – 29519Helical; Name=6Sequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165660536.

Polymorphism and mutation databases

BioMutaiSLC25A48.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 311311Solute carrier family 25 member 48PRO_0000325768Add
BLAST

Proteomic databases

PaxDbiQ6ZT89.
PRIDEiQ6ZT89.

Expressioni

Gene expression databases

BgeeiQ6ZT89.
ExpressionAtlasiQ6ZT89. baseline and differential.
GenevisibleiQ6ZT89. HS.

Organism-specific databases

HPAiHPA014674.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
KRTAP10-7P604093EBI-10255185,EBI-10172290
MID2Q9UJV3-23EBI-10255185,EBI-10172526
PNMA1Q8ND903EBI-10255185,EBI-302345
TRAF1Q130773EBI-10255185,EBI-359224
UBASH3BQ8TF423EBI-10255185,EBI-1380492

Protein-protein interaction databases

BioGridi127489. 10 interactions.
IntActiQ6ZT89. 5 interactions.
STRINGi9606.ENSP00000413049.

Structurei

3D structure databases

ProteinModelPortaliQ6ZT89.
SMRiQ6ZT89. Positions 15-296.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati3 – 8684Solcar 1Add
BLAST
Repeati101 – 205105Solcar 2Add
BLAST
Repeati214 – 30188Solcar 3Add
BLAST

Sequence similaritiesi

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0758. Eukaryota.
ENOG410XS86. LUCA.
GeneTreeiENSGT00700000104295.
HOVERGENiHBG003500.
InParanoidiQ6ZT89.
KOiK15124.
PhylomeDBiQ6ZT89.
TreeFamiTF351739.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZT89-1) [UniParc]FASTAAdd to basket

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
MGSFQLEDFA AGWIGGAASV IVGHPLDTVK TRLQAGVGYG NTLSCIRVVY
60 70 80 90 100
RRESMFGFFK GMSFPLASIA VYNSVVFGVF SNTQRFLSQH RCGEPEASPP
110 120 130 140 150
RTLSDLLLAS MVAGVVSVGL GGPVDLIKIR LQMQTQPFRD ANLGLKSRAV
160 170 180 190 200
APAEQPAYQG PVHCITTIVR NEGLAGLYRG ASAMLLRDVP GYCLYFIPYV
210 220 230 240 250
FLSEWITPEA CTGPSPCAVW LAGGMAGAIS WGTATPMDVV KSRLQADGVY
260 270 280 290 300
LNKYKGVLDC ISQSYQKEGL KVFFRGITVN AVRGFPMSAA MFLGYELSLQ
310
AIRGDHAVTS P
Note: Gene prediction based on similarity to bovine ortholog.
Length:311
Mass (Da):33,440
Last modified:March 18, 2008 - v2
Checksum:iC29F5D3437D267FC
GO
Isoform 2 (identifier: Q6ZT89-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     228-311: AISWGTATPM...IRGDHAVTSP → KGSSSWSRTP...PQSHPFPMQL

Show »
Length:291
Mass (Da):30,961
Checksum:iB7AC17643A430664
GO
Isoform 3 (identifier: Q6ZT89-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     141-157: ANLGLKSRAVAPAEQPA → GGEHRMTTVFPGPHLCM
     158-311: Missing.

Show »
Length:157
Mass (Da):16,955
Checksum:i7441D2FF63F03F56
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei141 – 15717ANLGL…AEQPA → GGEHRMTTVFPGPHLCM in isoform 3. 1 PublicationVSP_032397Add
BLAST
Alternative sequencei158 – 311154Missing in isoform 3. 1 PublicationVSP_032398Add
BLAST
Alternative sequencei228 – 31184AISWG…AVTSP → KGSSSWSRTPVQATAVGQLG NCHALLSPGGGQDTFRYSPN NSLLGTYSVPGPLPPQSHPF PMQL in isoform 2. 1 PublicationVSP_032399Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK126812 mRNA. Translation: BAC86705.1.
AC011427 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW62205.1.
BC025747 mRNA. Translation: AAH25747.1.
CCDSiCCDS43366.2. [Q6ZT89-3]
RefSeqiNP_660325.4. NM_145282.4. [Q6ZT89-3]
XP_006714609.1. XM_006714546.1. [Q6ZT89-1]
UniGeneiHs.412418.
Hs.720329.

Genome annotation databases

EnsembliENST00000274513; ENSP00000274513; ENSG00000145832. [Q6ZT89-2]
ENST00000412661; ENSP00000413049; ENSG00000145832. [Q6ZT89-3]
GeneIDi153328.
KEGGihsa:153328.
UCSCiuc003laz.1. human. [Q6ZT89-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK126812 mRNA. Translation: BAC86705.1.
AC011427 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW62205.1.
BC025747 mRNA. Translation: AAH25747.1.
CCDSiCCDS43366.2. [Q6ZT89-3]
RefSeqiNP_660325.4. NM_145282.4. [Q6ZT89-3]
XP_006714609.1. XM_006714546.1. [Q6ZT89-1]
UniGeneiHs.412418.
Hs.720329.

3D structure databases

ProteinModelPortaliQ6ZT89.
SMRiQ6ZT89. Positions 15-296.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127489. 10 interactions.
IntActiQ6ZT89. 5 interactions.
STRINGi9606.ENSP00000413049.

Protein family/group databases

TCDBi2.A.29.8.8. the mitochondrial carrier (mc) family.

Polymorphism and mutation databases

BioMutaiSLC25A48.

Proteomic databases

PaxDbiQ6ZT89.
PRIDEiQ6ZT89.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000274513; ENSP00000274513; ENSG00000145832. [Q6ZT89-2]
ENST00000412661; ENSP00000413049; ENSG00000145832. [Q6ZT89-3]
GeneIDi153328.
KEGGihsa:153328.
UCSCiuc003laz.1. human. [Q6ZT89-1]

Organism-specific databases

CTDi153328.
GeneCardsiSLC25A48.
HGNCiHGNC:30451. SLC25A48.
HPAiHPA014674.
MIMi616150. gene.
neXtProtiNX_Q6ZT89.
PharmGKBiPA165660536.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0758. Eukaryota.
ENOG410XS86. LUCA.
GeneTreeiENSGT00700000104295.
HOVERGENiHBG003500.
InParanoidiQ6ZT89.
KOiK15124.
PhylomeDBiQ6ZT89.
TreeFamiTF351739.

Miscellaneous databases

GenomeRNAii153328.
PROiQ6ZT89.
SOURCEiSearch...

Gene expression databases

BgeeiQ6ZT89.
ExpressionAtlasiQ6ZT89. baseline and differential.
GenevisibleiQ6ZT89. HS.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "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] (ISOFORM 2).
    Tissue: Brain cortex.
  2. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] (ISOFORM 3).
    Tissue: Brain.

Entry informationi

Entry nameiS2548_HUMAN
AccessioniPrimary (citable) accession number: Q6ZT89
Secondary accession number(s): Q8TAV9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: June 8, 2016
This is version 99 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 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.