Reviewed, UniProtKB/Swiss-Prot Q9BXK5 (B2L13_HUMAN)

Names and origin

Protein names

Recommended name:
    Bcl-2-like protein 13
      Short name=Bcl2-L-13
Alternative name(s):
    Protein Mil1
    Bcl-rambo

Gene names

Name:	BCL2L13
Synonyms:	MIL1
ORF Names:	CD003

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	485 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May promote the activation of caspase-3 and apoptosis.
Subunit structure	Monomer Probable.
Subcellular location	Isoform 2: Mitochondrion membrane; Single-pass membrane protein Potential. Nucleus Probable. Isoform 1: Nucleus Probable.
Tissue specificity	Ubiquitous, with the highest levels of expression in heart, placenta and pancreas.
Sequence similarities	Belongs to the Bcl-2 family.
Sequence caution	The sequence AAG09680.1 differs from that shown. Reason: Frameshift at several positions.

Ontologies

Keywords
Biological process	Apoptosis
Cellular component	Membrane Mitochondrion Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	activation of caspase activity Ref.1 Non-traceable author statement. Source: UniProtKB induction of apoptosis Ref.1 Non-traceable author statement. Source: UniProtKB
Cellular component	integral to membrane Ref.1 Inferred from direct assay. Source: UniProtKB mitochondrion Ref.1 Non-traceable author statement. Source: UniProtKB nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	caspase activator activity Ref.1 Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Experimental confirmation may be lacking for some isoforms.

Isoform 2 (identifier: Q9BXK5-1)

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 1 (identifier: Q9BXK5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     201-201: G → V
     202-485: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 485	485	Bcl-2-like protein 13		PRO_0000143073
Regions
	Transmembrane	460 – 480	21	Potential
	Repeat	246 – 256	11	A
	Repeat	261 – 271	11	A; approximate
	Repeat	425 – 441	17	B
	Repeat	443 – 459	17	B; approximate
	Motif	14 – 30	17	BH4
	Motif	100 – 116	17	BH3
	Motif	147 – 157	11	BH1
	Motif	193 – 206	14	BH2
	Compositional bias	207 – 212	6	Poly-Glu
	Compositional bias	311 – 424	114	Glu-rich
Amino acid modifications
	Modified residue	371	1	Phosphoserine By similarity
	Modified residue	420	1	Phosphoserine Ref.9 Ref.10
	Modified residue	426	1	Phosphoserine Ref.9 Ref.10
Natural variations
	Alternative sequence	201	1	G → V in isoform 1.		VSP_000526
	Alternative sequence	202 – 485	284	Missing in isoform 1.		VSP_000527
	Natural variant	46	1	I → R: dbSNP rs2587070.		VAR_059141
	Natural variant	46	1	I → T: dbSNP rs2587070.		VAR_059142
	Natural variant	55	1	I → V: dbSNP rs16981016.		VAR_024377
	Natural variant	360	1	P → S: dbSNP rs9306198. Ref.6		VAR_024378
Experimental info
	Sequence conflict	170	1	R → L in AAF03602. Ref.7
	Sequence conflict	391	1	E → Q in CAB61361. Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Isoform 2 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: D9404665111B6CE0	FASTA	485	52,723
	10 20 30 40 50 60 MASSSTVPLG FHYETKYVVL SYLGLLSQEK LQEQHLSSPQ GVQLDIASQS LDQEILLKVK 70 80 90 100 110 120 TEIEEELKSL DKEISEAFTS TGFDRHTSPV FSPANPESSM EDCLAHLGEK VSQELKEPLH 130 140 150 160 170 180 KALQMLLSQP VTYQAFRECT LETTVHASGW NKILVPLVLL RQMLLELTRR GQEPLSALLQ 190 200 210 220 230 240 FGVTYLEDYS AEYIIQQGGW GTVFSLESEE EEYPGITAED SNDIYILPSD NSGQVSPPES 250 260 270 280 290 300 PTVTTSWQSE SLPVSLSASQ SWHTESLPVS LGPESWQQIA MDPEEVKSLD SNGAGEKSEN 310 320 330 340 350 360 NSSNSDIVHV EKEEVPEGME EAAVASVVLP ARELQEALPE APAPLLPHIT ATSLLGTREP 370 380 390 400 410 420 DTEVITVEKS SPATSLFVEL DEEEVKAATT EPTEVEEVVP ALEPTETLLS EKEINAREES 430 440 450 460 470 480 LVEELSPASE KKPVPPSEGK SRLSPAGEMK PMPLSEGKSI LLFGGAAAVA ILAVAIGVAL ALRKK
	Isoform 1. Checksum: C343D4873BCC2A91	FASTA	201	22,612
	10 20 30 40 50 60 MASSSTVPLG FHYETKYVVL SYLGLLSQEK LQEQHLSSPQ GVQLDIASQS LDQEILLKVK 70 80 90 100 110 120 TEIEEELKSL DKEISEAFTS TGFDRHTSPV FSPANPESSM EDCLAHLGEK VSQELKEPLH 130 140 150 160 170 180 KALQMLLSQP VTYQAFRECT LETTVHASGW NKILVPLVLL RQMLLELTRR GQEPLSALLQ 190 200 FGVTYLEDYS AEYIIQQGGW V

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Bcl-rambo, a novel Bcl-2 homologue that induces apoptosis via its unique C-terminal extension." Kataoka T., Holler N., Micheau O., Martinon F., Tinel A., Hofmann K., Tschopp J. J. Biol. Chem. 276:19548-19554(2001) [PubMed: 11262395] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]	"Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere." Footz T.K., Brinkman-Mills P., Banting G.S., Maier S.A., Riazi M.A., Bridgland L.J., Hu S., Birren B., Minoshima S., Shimizu N., Pan H., Nguyen T., Fang F., Fu Y., Ray L., Wu H., Shaull S., Phan S. , Yao Z., Chen F., Huan A., Hu P., Wang Q., Loh P., Qi S., Roe B.A., McDermid H.E. Genome Res. 11:1053-1070(2001) [PubMed: 11381032] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"A novel gene expressed in human pheochromocytoma." Li Y., Peng Y., Li N., Gu W., Han Z., Fu G., Chen Z. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Pheochromocytoma.
[4]	"A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed: 10591208] [Abstract] 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-360. Tissue: Eye and Skin.
[7]	"Mil1, a novel human gene encoding mitochondria located protein promoting cell survival." Zemskova M.Y., Lilly M., Escher A.P. Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 77-485 (ISOFORM 2). Tissue: Glial tumor.
[8]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 183-485 (ISOFORM 2). Tissue: Testis.
[9]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-420 AND SER-426, MASS SPECTROMETRY. Tissue: Epithelium.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-420 AND SER-426, MASS SPECTROMETRY.
[11]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[12]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-426, MASS SPECTROMETRY. Tissue: T-cell.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBLGenBankDDBJ

AF325209 mRNA. Translation: AAK27358.1.
AF246665 mRNA. Translation: AAK15150.1.
AF183411 mRNA. Translation: AAG09680.1. Frameshift.
CR456521 mRNA. Translation: CAG30407.1.
BC007658 mRNA. Translation: AAH07658.1.
BC016037 mRNA. Translation: AAH16037.1.
AF146568 mRNA. Translation: AAF03602.1. Different initiation.
AL133029 mRNA. Translation: CAB61361.1.

IPI

IPI00011635.
IPI00220829.

PIR

T42703.

RefSeq

NP_056182.2.

UniGene

Hs.631672

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2IPD	model	-	@	1-485	[»]

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9BXK5. 1 interaction.

STRING

Q9BXK5.

PTM databases

PhosphoSite

Q9BXK5.

Proteomic databases

PeptideAtlas

Q9BXK5.

PRIDE

Q9BXK5.

Genome annotation databases

Ensembl

ENST00000317582; ENSP00000318883; ENSG00000099968; Homo sapiens. [Genome view]
ENST00000418951; ENSP00000410019; ENSG00000099968; Homo sapiens. [Genome view]

GeneID

23786.

KEGG

hsa:23786.

UCSC

uc002zmu.1. human.
uc002zmw.1. human.

Organism-specific databases

CTD

23786.

GeneCards

GC22P016496.

H-InvDB

HIX0016215.
HIX0041136.

HGNC

HGNC:17164. BCL2L13.

HPA

CAB002052.

PharmGKB

PA134912159.

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

Q9BXK5.

OMA

TYLEDYA

Gene expression databases

ArrayExpress

Q9BXK5.

Bgee

Q9BXK5.

CleanEx

HS_BCL2L13.

Genevestigator

Q9BXK5.

GermOnline

ENSG00000099968. Homo sapiens.

Family and domain databases

InterPro

IPR002475. BCL2_apoptsis.
IPR000712. Bcl2_BH.
[Graphical view]

Pfam

PF00452. Bcl-2. 1 hit.
[Graphical view]

SMART

SM00337. BCL. 1 hit.
[Graphical view]

PROSITE

PS50062. BCL2_FAMILY. 1 hit.
PS01080. BH1. False negative.
PS01258. BH2. False negative.
PS01259. BH3. False negative.
PS01260. BH4_1. False negative.
PS50063. BH4_2. False negative.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

46789.

Entry information

Entry name

B2L13_HUMAN

Accession

Primary (citable) accession number: Q9BXK5
Secondary accession number(s): Q96B37 , Q96IB7, Q9BY01, Q9HC05, Q9UFE0, Q9UKN3

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2002
Last sequence update:	June 1, 2001
Last modified:	November 24, 2009
This is version 89 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.