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Q6Q0C1

- S2547_HUMAN

UniProt

Q6Q0C1 - S2547_HUMAN

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Protein

Solute carrier family 25 member 47

Gene

SLC25A47

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

Functioni

Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces the dissipation of mitochondrial membrane potential.1 Publication

GO - Biological processi

  1. transmembrane transport Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Transport

Protein family/group databases

TCDBi2.A.29.8.10. the mitochondrial carrier (mc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 25 member 47
Alternative name(s):
Hepatocellular carcinoma down-regulated mitochondrial carrier protein
Gene namesi
Name:SLC25A47
Synonyms:C14orf68, HDMCP
ORF Names:HMFN1655
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:20115. SLC25A47.

Subcellular locationi

Mitochondrion inner membrane 1 Publication; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei3 – 2321Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei49 – 6921Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei98 – 11619Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei190 – 21021Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei217 – 23721Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei273 – 29321Helical; 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

PharmGKBiPA165479287.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 308308Solute carrier family 25 member 47PRO_0000291779Add
BLAST

Proteomic databases

MaxQBiQ6Q0C1.
PaxDbiQ6Q0C1.
PRIDEiQ6Q0C1.

PTM databases

PhosphoSiteiQ6Q0C1.

Expressioni

Tissue specificityi

Specifically expressed in liver.1 Publication

Inductioni

Down-regulated in hepatocarcinoma.1 Publication

Gene expression databases

BgeeiQ6Q0C1.
CleanExiHS_C14orf68.
ExpressionAtlasiQ6Q0C1. baseline and differential.
GenevestigatoriQ6Q0C1.

Interactioni

Protein-protein interaction databases

BioGridi129619. 2 interactions.
IntActiQ6Q0C1. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ6Q0C1.
SMRiQ6Q0C1. Positions 2-307.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati1 – 8080Solcar 1Add
BLAST
Repeati93 – 206114Solcar 2Add
BLAST
Repeati215 – 30288Solcar 3Add
BLAST

Sequence similaritiesi

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG263786.
GeneTreeiENSGT00700000104295.
HOGENOMiHOG000168307.
HOVERGENiHBG003500.
InParanoidiQ6Q0C1.
KOiK15123.
OMAiHCLAHIC.
OrthoDBiEOG77DJ6R.
PhylomeDBiQ6Q0C1.
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 (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6Q0C1-1) [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
MDFVAGAIGG VCGVAVGYPL DTVKVRIQTE PKYTGIWHCV RDTYHRERVW
60 70 80 90 100
GFYRGLSLPV CTVSLVSSVS FGTYRHCLAH ICRLRYGNPD AKPTKADITL
110 120 130 140 150
SGCASGLVRV FLTSPTEVAK VRLQTQTQAQ KQQRRLSASG PLAVPPMCPV
160 170 180 190 200
PPACPEPKYR GPLHCLATVA REEGLCGLYK GSSALVLRDG HSFATYFLSY
210 220 230 240 250
AVLCEWLSPA GHSRPDVPGV LVAGGCAGVL AWAVATPMDV IKSRLQADGQ
260 270 280 290 300
GQRRYRGLLH CMVTSVREEG PRVLFKGLVL NCCRAFPVNM VVFVAYEAVL

RLARGLLT
Length:308
Mass (Da):33,435
Last modified:July 5, 2004 - v1
Checksum:i995BC7342F99AFCC
GO
Isoform 2 (identifier: Q6Q0C1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-30: VRIQTE → GLLALP
     31-308: Missing.

Show »
Length:30
Mass (Da):2,904
Checksum:i6FE4DF1638A68F9A
GO

Sequence cautioni

The sequence CAD62588.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei25 – 306VRIQTE → GLLALP in isoform 2. 2 PublicationsVSP_026233
Alternative sequencei31 – 308278Missing in isoform 2. 2 PublicationsVSP_026234Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY569438 mRNA. Translation: AAS80155.1.
AY570298 mRNA. Translation: AAS77211.1.
AB073385 mRNA. Translation: BAD38636.1. Sequence problems.
AK092001 mRNA. Translation: BAG52460.1.
BX248260 mRNA. Translation: CAD62588.1. Different initiation.
CH471061 Genomic DNA. Translation: EAW81697.1.
BC137253 mRNA. Translation: AAI37254.1.
BC137254 mRNA. Translation: AAI37255.1.
CCDSiCCDS9959.1. [Q6Q0C1-1]
RefSeqiNP_997000.2. NM_207117.2. [Q6Q0C1-1]
UniGeneiHs.108268.

Genome annotation databases

EnsembliENST00000361529; ENSP00000354886; ENSG00000140107. [Q6Q0C1-1]
GeneIDi283600.
KEGGihsa:283600.
UCSCiuc001yhc.3. human. [Q6Q0C1-1]

Polymorphism databases

DMDMi74749277.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY569438 mRNA. Translation: AAS80155.1 .
AY570298 mRNA. Translation: AAS77211.1 .
AB073385 mRNA. Translation: BAD38636.1 . Sequence problems.
AK092001 mRNA. Translation: BAG52460.1 .
BX248260 mRNA. Translation: CAD62588.1 . Different initiation.
CH471061 Genomic DNA. Translation: EAW81697.1 .
BC137253 mRNA. Translation: AAI37254.1 .
BC137254 mRNA. Translation: AAI37255.1 .
CCDSi CCDS9959.1. [Q6Q0C1-1 ]
RefSeqi NP_997000.2. NM_207117.2. [Q6Q0C1-1 ]
UniGenei Hs.108268.

3D structure databases

ProteinModelPortali Q6Q0C1.
SMRi Q6Q0C1. Positions 2-307.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129619. 2 interactions.
IntActi Q6Q0C1. 2 interactions.

Protein family/group databases

TCDBi 2.A.29.8.10. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSitei Q6Q0C1.

Polymorphism databases

DMDMi 74749277.

Proteomic databases

MaxQBi Q6Q0C1.
PaxDbi Q6Q0C1.
PRIDEi Q6Q0C1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361529 ; ENSP00000354886 ; ENSG00000140107 . [Q6Q0C1-1 ]
GeneIDi 283600.
KEGGi hsa:283600.
UCSCi uc001yhc.3. human. [Q6Q0C1-1 ]

Organism-specific databases

CTDi 283600.
GeneCardsi GC14P101225.
HGNCi HGNC:20115. SLC25A47.
MIMi 609911. gene.
neXtProti NX_Q6Q0C1.
PharmGKBi PA165479287.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG263786.
GeneTreei ENSGT00700000104295.
HOGENOMi HOG000168307.
HOVERGENi HBG003500.
InParanoidi Q6Q0C1.
KOi K15123.
OMAi HCLAHIC.
OrthoDBi EOG77DJ6R.
PhylomeDBi Q6Q0C1.
TreeFami TF351739.

Miscellaneous databases

GenomeRNAii 283600.
NextBioi 94088.
PROi Q6Q0C1.
SOURCEi Search...

Gene expression databases

Bgeei Q6Q0C1.
CleanExi HS_C14orf68.
ExpressionAtlasi Q6Q0C1. baseline and differential.
Genevestigatori Q6Q0C1.

Family and domain databases

Gene3Di 1.50.40.10. 1 hit.
InterProi IPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view ]
Pfami PF00153. Mito_carr. 3 hits.
[Graphical view ]
PRINTSi PR00926. MITOCARRIER.
SUPFAMi SSF103506. SSF103506. 1 hit.
PROSITEi PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and identification of hepatocellular carcinoma down-regulated mitochondrial carrier protein, a novel liver-specific uncoupling protein."
    Tan M.G.K., Ooi L.L.P.J., Aw S.E., Hui K.M.
    J. Biol. Chem. 279:45235-45244(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.
  2. "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas."
    Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.
    Oncogene 23:5901-5911(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  3. "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 1).
    Tissue: Liver.
  4. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Fetal liver.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] (ISOFORM 1).

Entry informationi

Entry nameiS2547_HUMAN
AccessioniPrimary (citable) accession number: Q6Q0C1
Secondary accession number(s): B2RP39
, Q68CL2, Q6PZD8, Q86U14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: July 5, 2004
Last modified: October 29, 2014
This is version 88 of the entry and version 1 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 14
    Human chromosome 14: 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

External Data

Dasty 3