Q6Q0C1 (S2547_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	308 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing
Domain	Repeat Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	transmembrane transport Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 308	308	Solute carrier family 25 member 47		PRO_0000291779
Regions
	Transmembrane	3 – 23	21	Helical; Name=1; Potential
	Transmembrane	49 – 69	21	Helical; Name=2; Potential
	Transmembrane	98 – 116	19	Helical; Name=3; Potential
	Transmembrane	190 – 210	21	Helical; Name=4; Potential
	Transmembrane	217 – 237	21	Helical; Name=5; Potential
	Transmembrane	273 – 293	21	Helical; Name=6; Potential
	Repeat	1 – 80	80	Solcar 1
	Repeat	93 – 206	114	Solcar 2
	Repeat	215 – 302	88	Solcar 3
Natural variations
	Alternative sequence	25 – 30	6	VRIQTE → GLLALP in isoform 2.		VSP_026233
	Alternative sequence	31 – 308	278	Missing in isoform 2.		VSP_026234

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 995BC7342F99AFCC	FASTA	308	33,435
	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
	Isoform 2 [UniParc]. Checksum: 6FE4DF1638A68F9A	FASTA	30	2,904
	10 20 30 MDFVAGAIGG VCGVAVGYPL DTVKGLLALP

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00452583. IPI00477492.
RefSeq	NP_997000.2. NM_207117.2.
UniGene	Hs.108268.
3D structure databases
ProteinModelPortal	Q6Q0C1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6Q0C1. 2 interactions.
PTM databases
PhosphoSite	Q6Q0C1.
Polymorphism databases
DMDM	74749277.
Proteomic databases
PaxDb	Q6Q0C1.
PRIDE	Q6Q0C1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000361529; ENSP00000354886; ENSG00000140107.
GeneID	283600.
KEGG	hsa:283600.
UCSC	uc001yhc.3. human.
Organism-specific databases
CTD	283600.
GeneCards	GC14P101077.
HGNC	HGNC:20115. SLC25A47.
MIM	609911. gene.
neXtProt	NX_Q6Q0C1.
PharmGKB	PA165479287.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG263786.
HOGENOM	HOG000168307.
HOVERGEN	HBG003500.
InParanoid	Q6Q0C1.
KO	K15123.
OMA	RHCLAHI.
OrthoDB	EOG4XSKQK.
Gene expression databases
ArrayExpress	Q6Q0C1.
Bgee	Q6Q0C1.
CleanEx	HS_C14orf68.
Genevestigator	Q6Q0C1.
Family and domain databases
Gene3D	1.50.40.10. 1 hit.
InterPro	IPR002067. Mit_carrier. IPR018108. Mitochondrial_sb/sol_carrier. IPR023395. Mt_carrier_dom. [Graphical view]
Pfam	PF00153. Mito_carr. 3 hits. [Graphical view]
PRINTS	PR00926. MITOCARRIER.
SUPFAM	SSF103506. Mitoch_carrier. 1 hit.
PROSITE	PS50920. SOLCAR. 3 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	283600.
NextBio	94088.
SOURCE	Search...

Entry information

Entry name

S2547_HUMAN

Accession

Primary (citable) accession number: Q6Q0C1
Secondary accession number(s): B2RP39 , Q68CL2, Q6PZD8, Q86U14

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 26, 2007
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 74 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.