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Q6Q0C1 (S2547_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Solute carrier family 25 member 47
Alternative name(s):
Hepatocellular carcinoma down-regulated mitochondrial carrier protein
Gene names
Name:SLC25A47
Synonyms:C14orf68, HDMCP
ORF Names:HMFN1655
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length308 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein Ref.1.

Tissue specificity

Specifically expressed in liver. Ref.1

Induction

Down-regulated in hepatocarcinoma. Ref.1

Sequence similarities

Belongs to the mitochondrial carrier (TC 2.A.29) family. [View classification]

Contains 3 Solcar repeats.

Sequence caution

The sequence BAD38636.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.

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

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
Mitochondrion
Mitochondrion inner membrane
   Coding sequence diversityAlternative splicing
   DomainRepeat
Transmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processtransmembrane transport

Inferred from electronic annotation. Source: InterPro

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrial inner membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6Q0C1-1)

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.
Isoform 2 (identifier: Q6Q0C1-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 308308Solute carrier family 25 member 47
PRO_0000291779

Regions

Transmembrane3 – 2321Helical; Name=1; Potential
Transmembrane49 – 6921Helical; Name=2; Potential
Transmembrane98 – 11619Helical; Name=3; Potential
Transmembrane190 – 21021Helical; Name=4; Potential
Transmembrane217 – 23721Helical; Name=5; Potential
Transmembrane273 – 29321Helical; Name=6; Potential
Repeat1 – 8080Solcar 1
Repeat93 – 206114Solcar 2
Repeat215 – 30288Solcar 3

Natural variations

Alternative sequence25 – 306VRIQTE → GLLALP in isoform 2.
VSP_026233
Alternative sequence31 – 308278Missing in isoform 2.
VSP_026234

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 995BC7342F99AFCC

FASTA30833,435
        10         20         30         40         50         60 
MDFVAGAIGG VCGVAVGYPL DTVKVRIQTE PKYTGIWHCV RDTYHRERVW GFYRGLSLPV 

        70         80         90        100        110        120 
CTVSLVSSVS FGTYRHCLAH ICRLRYGNPD AKPTKADITL SGCASGLVRV FLTSPTEVAK 

       130        140        150        160        170        180 
VRLQTQTQAQ KQQRRLSASG PLAVPPMCPV PPACPEPKYR GPLHCLATVA REEGLCGLYK 

       190        200        210        220        230        240 
GSSALVLRDG HSFATYFLSY AVLCEWLSPA GHSRPDVPGV LVAGGCAGVL AWAVATPMDV 

       250        260        270        280        290        300 
IKSRLQADGQ GQRRYRGLLH CMVTSVREEG PRVLFKGLVL NCCRAFPVNM VVFVAYEAVL 


RLARGLLT 

« Hide

Isoform 2 [UniParc].

Checksum: 6FE4DF1638A68F9A
Show »

FASTA302,904

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_997000.2. NM_207117.2.
UniGeneHs.108268.

3D structure databases

ProteinModelPortalQ6Q0C1.
SMRQ6Q0C1. Positions 1-305.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129619. 2 interactions.
IntActQ6Q0C1. 2 interactions.

Protein family/group databases

TCDB2.A.29.8.10. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSiteQ6Q0C1.

Polymorphism databases

DMDM74749277.

Proteomic databases

PaxDbQ6Q0C1.
PRIDEQ6Q0C1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361529; ENSP00000354886; ENSG00000140107. [Q6Q0C1-1]
GeneID283600.
KEGGhsa:283600.
UCSCuc001yhc.3. human. [Q6Q0C1-1]

Organism-specific databases

CTD283600.
GeneCardsGC14P101163.
HGNCHGNC:20115. SLC25A47.
MIM609911. gene.
neXtProtNX_Q6Q0C1.
PharmGKBPA165479287.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG263786.
HOGENOMHOG000168307.
HOVERGENHBG003500.
InParanoidQ6Q0C1.
KOK15123.
OMAHCLAHIC.
OrthoDBEOG77DJ6R.
PhylomeDBQ6Q0C1.
TreeFamTF351739.

Gene expression databases

ArrayExpressQ6Q0C1.
BgeeQ6Q0C1.
CleanExHS_C14orf68.
GenevestigatorQ6Q0C1.

Family and domain databases

Gene3D1.50.40.10. 1 hit.
InterProIPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSPR00926. MITOCARRIER.
SUPFAMSSF103506. SSF103506. 1 hit.
PROSITEPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi283600.
NextBio94088.
PROQ6Q0C1.
SOURCESearch...

Entry information

Entry nameS2547_HUMAN
AccessionPrimary (citable) accession number: Q6Q0C1
Secondary accession number(s): B2RP39 expand/collapse secondary AC list , Q68CL2, Q6PZD8, Q86U14
Entry history
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 83 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM