Q969X1 (LFG3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein lifeguard 3

Alternative name(s):
Protein RECS1 homolog
Transmembrane BAX inhibitor motif-containing protein 1

Gene names

Name:	TMBIM1
Synonyms:	LFG3, RECS1
ORF Names:	PP1201, PSEC0158

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	311 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.
Subcellular location	Membrane; Multi-pass membrane protein By similarity. Lysosome membrane. Endosome membrane Ref.6.
Sequence similarities	Belongs to the BI1 family. LFG subfamily.
Sequence caution	The sequence AAH26693.1 differs from that shown. Reason: Frameshift at position 6. The sequence BAB55346.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC11636.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Cellular component	Endosome Lysosome Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	endosome membrane Inferred from direct assay Ref.6. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW lysosomal membrane Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 311	311	Protein lifeguard 3		PRO_0000179090
Regions
	Transmembrane	110 – 130	21	Helical; Potential
	Transmembrane	134 – 154	21	Helical; Potential
	Transmembrane	165 – 185	21	Helical; Potential
	Transmembrane	190 – 210	21	Helical; Potential
	Transmembrane	221 – 241	21	Helical; Potential
	Transmembrane	246 – 266	21	Helical; Potential
	Transmembrane	286 – 306	21	Helical; Potential
Amino acid modifications
	Modified residue	81	1	Phosphoserine By similarity
Natural variations
	Natural variant	21	1	P → L. Ref.1 Ref.2 Ref.3 Corresponds to variant rs2292553 [ dbSNP | Ensembl ].		VAR_017382
Experimental info
	Sequence conflict	119	1	I → T in BAC04516. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q969X1 [UniParc]. Last modified March 7, 2006. Version 2. Checksum: 12B5741A60C1487F	FASTA	311	34,607
	10 20 30 40 50 60 MSNPSAPPPY EDRNPLYPGP PPPGGYGQPS VLPGGYPAYP GYPQPGYGHP AGYPQPMPPT 70 80 90 100 110 120 HPMPMNYGPG HGYDGEERAV SDSFGPGEWD DRKVRHTFIR KVYSIISVQL LITVAIIAIF 130 140 150 160 170 180 TFVEPVSAFV RRNVAVYYVS YAVFVVTYLI LACCQGPRRR FPWNIILLTL FTFAMGFMTG 190 200 210 220 230 240 TISSMYQTKA VIIAMIITAV VSISVTIFCF QTKVDFTSCT GLFCVLGIVL LVTGIVTSIV 250 260 270 280 290 300 LYFQYVYWLH MLYAALGAIC FTLFLAYDTQ LVLGNRKHTI SPEDYITGAL QIYTDIIYIF 310 TFVLQLMGDR N

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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], VARIANT LEU-21. Tissue: Placenta and Tongue.
[2]	"Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J. Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-21.
[3]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-21. Tissue: Placenta.
[4]	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].
[5]	"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]. Tissue: Brain, Colon and Pancreas.
[6]	"RECS1 deficiency in mice induces susceptibility to cystic medial degeneration." Zhao H., Ito A., Kimura S.H., Yabuta N., Sakai N., Ikawa M., Okabe M., Matsuzawa Y., Yamashita S., Nojima H. Genes Genet. Syst. 81:41-50(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[7]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Platelet.
[8]	"LFG: a candidate apoptosis regulatory gene family." Hu L., Smith T.F., Goldberger G. Apoptosis 14:1255-1265(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GENE FAMILY, NOMENCLATURE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK027755 mRNA. Translation: BAB55346.1. Different initiation. AK090618 mRNA. Translation: BAG52198.1. AK095270 mRNA. Translation: BAC04516.1. Sequence problems. AF193045 mRNA. Translation: AAG22473.1. AK075465 mRNA. Translation: BAC11636.1. Different initiation. CH471063 Genomic DNA. Translation: EAW70607.1. BC007980 mRNA. Translation: AAH07980.1. BC013428 mRNA. Translation: AAH13428.1. BC026348 mRNA. Translation: AAH26348.1. BC026693 mRNA. Translation: AAH26693.1. Frameshift.
IPI	IPI00290452.
RefSeq	NP_071435.2. NM_022152.4.
UniGene	Hs.591605.
3D structure databases
ProteinModelPortal	Q969X1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q969X1. 6 interactions.
STRING	9606.ENSP00000258412.
PTM databases
PhosphoSite	Q969X1.
Polymorphism databases
DMDM	93117549.
Proteomic databases
PaxDb	Q969X1.
PRIDE	Q969X1.
Protocols and materials databases
DNASU	64114.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000258412; ENSP00000258412; ENSG00000135926. ENST00000396809; ENSP00000380025; ENSG00000135926. ENST00000444881; ENSP00000409738; ENSG00000135926.
GeneID	64114.
KEGG	hsa:64114.
UCSC	uc002vho.1. human.
Organism-specific databases
CTD	64114.
GeneCards	GC02M219139.
HGNC	HGNC:23410. TMBIM1.
HPA	HPA012093.
MIM	610364. gene.
neXtProt	NX_Q969X1.
PharmGKB	PA142670804.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0670.
HOGENOM	HOG000060393.
HOVERGEN	HBG012084.
InParanoid	Q969X1.
KO	K06890.
OMA	VYYVSYA.
OrthoDB	EOG4H4647.
PhylomeDB	Q969X1.
Gene expression databases
ArrayExpress	Q969X1.
Bgee	Q969X1.
CleanEx	HS_TMBIM1.
Genevestigator	Q969X1.
GermOnline	ENSG00000135926. Homo sapiens.
Family and domain databases
InterPro	IPR006214. Bax_inhibitor_1-related. [Graphical view]
PANTHER	PTHR23291. PTHR23291. 1 hit.
Pfam	PF01027. Bax1-I. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	64114.
NextBio	65980.
SOURCE	Search...

Entry information

Entry name

LFG3_HUMAN

Accession

Primary (citable) accession number: Q969X1
Secondary accession number(s): B3KQY6 , Q8N1R3, Q8TAM3, Q96K13

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 21, 2003
Last sequence update:	March 7, 2006
Last modified:	April 3, 2013
This is version 93 of the entry and version 2 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.