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Q9BXK5 (B2L13_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Bcl-2-like protein 13

Short name=Bcl2-L-13
Alternative name(s):
Bcl-rambo
Protein Mil1
Gene names
Name:BCL2L13
Synonyms:MIL1
ORF Names:CD003
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length485 AA.
Sequence statusComplete.
Protein existenceEvidence 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 AAF03602.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAG09680.1 differs from that shown. Reason: Frameshift at several positions.

Alternative products

This entry describes 3 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.
Isoform 3 (identifier: Q9BXK5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-162: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 485485Bcl-2-like protein 13
PRO_0000143073

Regions

Transmembrane460 – 48021Helical; Potential
Repeat246 – 25611A
Repeat261 – 27111A; approximate
Repeat425 – 44117B
Repeat443 – 45917B; approximate
Motif14 – 3017BH4
Motif100 – 11617BH3
Motif147 – 15711BH1
Motif193 – 20614BH2
Compositional bias207 – 2126Poly-Glu
Compositional bias311 – 424114Glu-rich

Amino acid modifications

Modified residue381Phosphoserine Ref.10
Modified residue3711Phosphoserine By similarity
Modified residue4201Phosphoserine Ref.10 Ref.11 Ref.13
Modified residue4261Phosphoserine Ref.10 Ref.11 Ref.13
Modified residue4291Phosphoserine Ref.11

Natural variations

Alternative sequence1 – 162162Missing in isoform 3.
VSP_046931
Alternative sequence2011G → V in isoform 1.
VSP_000526
Alternative sequence202 – 485284Missing in isoform 1.
VSP_000527
Natural variant461I → R. Ref.10
Corresponds to variant rs2587070 [ dbSNP | Ensembl ].
VAR_059141
Natural variant461I → T.
Corresponds to variant rs2587070 [ dbSNP | Ensembl ].
VAR_059142
Natural variant551I → V.
Corresponds to variant rs16981016 [ dbSNP | Ensembl ].
VAR_024377
Natural variant3601P → S. Ref.7
Corresponds to variant rs9306198 [ dbSNP | Ensembl ].
VAR_024378

Experimental info

Sequence conflict1701R → L in AAF03602. Ref.8
Sequence conflict3911E → Q in CAB61361. Ref.9

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: D9404665111B6CE0

FASTA48552,723
        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 

« Hide

Isoform 1 [UniParc].

Checksum: C343D4873BCC2A91
Show »

FASTA20122,612
Isoform 3 [UniParc].

Checksum: 77A9CADD907ED1F9
Show »

FASTA32334,601

References

« Hide '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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]"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 3).
Tissue: Teratocarcinoma.
[6]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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 2), VARIANT SER-360.
Tissue: Eye and Skin.
[8]"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.
[9]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 183-485 (ISOFORM 2).
Tissue: Testis.
[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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-38; SER-420 AND SER-426, VARIANT [LARGE SCALE ANALYSIS] ARG-46, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-420; SER-426 AND SER-429, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-420 AND SER-426, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF325209 mRNA. Translation: AAK27358.1.
AF246665 mRNA. Translation: AAK15150.1.
AF183411 mRNA. Translation: AAG09680.1. Frameshift.
CR456521 mRNA. Translation: CAG30407.1.
AK056248 mRNA. Translation: BAG51659.1.
AC006285 Genomic DNA. No translation available.
BC007658 mRNA. Translation: AAH07658.1.
BC016037 mRNA. Translation: AAH16037.1.
AF146568 mRNA. Translation: AAF03602.1. Different initiation.
AL133029 mRNA. Translation: CAB61361.1.
CCDSCCDS13746.1. [Q9BXK5-1]
CCDS59448.1. [Q9BXK5-4]
PIRT42703.
RefSeqNP_001257658.1. NM_001270729.1. [Q9BXK5-4]
NP_001257659.1. NM_001270730.1. [Q9BXK5-4]
NP_001257660.1. NM_001270731.1. [Q9BXK5-4]
NP_056182.2. NM_015367.3. [Q9BXK5-1]
XP_006724139.1. XM_006724076.1. [Q9BXK5-4]
UniGeneHs.631672.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2IPDmodel-@1-485[»]
ProteinModelPortalQ9BXK5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117285. 3 interactions.
IntActQ9BXK5. 8 interactions.
MINTMINT-4538648.
STRING9606.ENSP00000318883.

PTM databases

PhosphoSiteQ9BXK5.

Polymorphism databases

DMDM23396740.

Proteomic databases

MaxQBQ9BXK5.
PaxDbQ9BXK5.
PeptideAtlasQ9BXK5.
PRIDEQ9BXK5.

Protocols and materials databases

DNASU23786.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000317582; ENSP00000318883; ENSG00000099968. [Q9BXK5-1]
ENST00000337612; ENSP00000338932; ENSG00000099968. [Q9BXK5-4]
ENST00000399782; ENSP00000382682; ENSG00000099968. [Q9BXK5-2]
ENST00000493680; ENSP00000434764; ENSG00000099968. [Q9BXK5-2]
ENST00000543133; ENSP00000437667; ENSG00000099968. [Q9BXK5-4]
GeneID23786.
KEGGhsa:23786.
UCSCuc002zmu.3. human. [Q9BXK5-2]
uc002zmw.4. human. [Q9BXK5-1]

Organism-specific databases

CTD23786.
GeneCardsGC22P018111.
HGNCHGNC:17164. BCL2L13.
HPACAB002052.
HPA030994.
HPA050377.
neXtProtNX_Q9BXK5.
PharmGKBPA134912159.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44929.
HOGENOMHOG000059276.
HOVERGENHBG050648.
InParanoidQ9BXK5.
KOK15485.
OMASQPVTYQ.
OrthoDBEOG77M8PW.
PhylomeDBQ9BXK5.
TreeFamTF330744.

Gene expression databases

ArrayExpressQ9BXK5.
BgeeQ9BXK5.
CleanExHS_BCL2L13.
GenevestigatorQ9BXK5.

Family and domain databases

InterProIPR002475. Bcl2-like.
IPR026298. Blc2_fam.
[Graphical view]
PfamPF00452. Bcl-2. 1 hit.
[Graphical view]
PROSITEPS50062. BCL2_FAMILY. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiBCL2L13.
GenomeRNAi23786.
NextBio35469201.
PROQ9BXK5.

Entry information

Entry nameB2L13_HUMAN
AccessionPrimary (citable) accession number: Q9BXK5
Secondary accession number(s): B3KPE7 expand/collapse secondary AC list , Q96B37, Q96IB7, Q9BY01, Q9HC05, Q9UFE0, Q9UKN3
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 130 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM