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Protein

Bax inhibitor 1

Gene

TMBIM6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Suppressor of apoptosis (PubMed:21075086). Modulates unfolded protein response signaling (PubMed:21075086). Modulates ER calcium homeostasis by acting as a calcium-leak channel (PubMed:22128171). Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity).By similarity2 Publications

GO - Molecular functioni

  • endoribonuclease inhibitor activity Source: ParkinsonsUK-UCL
  • enzyme binding Source: ParkinsonsUK-UCL
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Apoptosis, Autophagy, Unfolded protein response

Keywords - Ligandi

Calcium

Protein family/group databases

TCDBi1.A.14.1.1. the testis-enhanced gene transfer (tegt) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Bax inhibitor 1
Short name:
BI-1
Alternative name(s):
Testis-enhanced gene transcript protein
Transmembrane BAX inhibitor motif-containing protein 6
Gene namesi
Name:TMBIM6
Synonyms:BI1, TEGT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:11723. TMBIM6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2929CytoplasmicSequence analysisAdd
BLAST
Transmembranei30 – 5021HelicalSequence analysisAdd
BLAST
Topological domaini51 – 522LumenalSequence analysis
Transmembranei53 – 7321HelicalSequence analysisAdd
BLAST
Topological domaini74 – 8613CytoplasmicSequence analysisAdd
BLAST
Transmembranei87 – 10721HelicalSequence analysisAdd
BLAST
Topological domaini108 – 1125LumenalSequence analysis
Transmembranei113 – 13321HelicalSequence analysisAdd
BLAST
Topological domaini134 – 1396CytoplasmicSequence analysis
Transmembranei140 – 16021HelicalSequence analysisAdd
BLAST
Topological domaini161 – 1666LumenalSequence analysis
Transmembranei167 – 18721HelicalSequence analysisAdd
BLAST
Topological domaini188 – 20619CytoplasmicSequence analysisAdd
BLAST
Intramembranei207 – 22721HelicalSequence analysisAdd
BLAST
Topological domaini228 – 23710CytoplasmicSequence analysis

GO - Cellular componenti

  • cytoplasm Source: ParkinsonsUK-UCL
  • endoplasmic reticulum Source: ParkinsonsUK-UCL
  • endoplasmic reticulum membrane Source: ParkinsonsUK-UCL
  • integral component of membrane Source: ParkinsonsUK-UCL
  • integral component of plasma membrane Source: ProtInc
  • membrane Source: UniProtKB
  • mitochondrial membrane Source: ParkinsonsUK-UCL
  • nucleus Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi209 – 2091D → A: Abolishes calcium flux properties. 1 Publication
Mutagenesisi213 – 2131D → A: Abolishes calcium flux properties. 1 Publication

Organism-specific databases

PharmGKBiPA36440.

Polymorphism and mutation databases

BioMutaiTMBIM6.
DMDMi20981681.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 237237Bax inhibitor 1PRO_0000179078Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki7 – 7Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiP55061.
MaxQBiP55061.
PaxDbiP55061.
PeptideAtlasiP55061.
PRIDEiP55061.
TopDownProteomicsiP55061-1. [P55061-1]

PTM databases

iPTMnetiP55061.
PhosphoSiteiP55061.

Expressioni

Tissue specificityi

Highly abundant in testis.1 Publication

Gene expression databases

BgeeiENSG00000139644.
CleanExiHS_TMBIM6.
ExpressionAtlasiP55061. baseline and differential.
GenevisibleiP55061. HS.

Organism-specific databases

HPAiHPA017378.

Interactioni

Subunit structurei

Interacts with BCL2 and BCL2L1.1 Publication

GO - Molecular functioni

  • enzyme binding Source: ParkinsonsUK-UCL
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi112868. 25 interactions.
IntActiP55061. 4 interactions.
STRINGi9606.ENSP00000389277.

Structurei

3D structure databases

ProteinModelPortaliP55061.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The intra-membrane loop at the C-terminus acts as a calcium pore, mediating calcium leak from the ER into the cytosol.1 Publication

Sequence similaritiesi

Belongs to the BI1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1629. Eukaryota.
ENOG4111GCT. LUCA.
GeneTreeiENSGT00390000006722.
HOGENOMiHOG000238748.
HOVERGENiHBG001192.
InParanoidiP55061.
OMAiIMCGFVL.
OrthoDBiEOG091G0L75.
PhylomeDBiP55061.
TreeFamiTF323395.

Family and domain databases

InterProiIPR006213. Bax_inhbtr1_CS.
IPR006214. Bax_inhibitor_1-related.
[Graphical view]
PANTHERiPTHR23291. PTHR23291. 1 hit.
PROSITEiPS01243. BI1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P55061-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MNIFDRKINF DALLKFSHIT PSTQQHLKKV YASFALCMFV AAAGAYVHMV
60 70 80 90 100
THFIQAGLLS ALGSLILMIW LMATPHSHET EQKRLGLLAG FAFLTGVGLG
110 120 130 140 150
PALEFCIAVN PSILPTAFMG TAMIFTCFTL SALYARRRSY LFLGGILMSA
160 170 180 190 200
LSLLLLSSLG NVFFGSIWLF QANLYVGLVV MCGFVLFDTQ LIIEKAEHGD
210 220 230
QDYIWHCIDL FLDFITVFRK LMMILAMNEK DKKKEKK
Length:237
Mass (Da):26,538
Last modified:May 15, 2002 - v2
Checksum:i6567E73A1AD6238E
GO
Isoform 2 (identifier: P55061-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSHSSVTREAPQLLSQRQRREVRGVWGWGCLPGPRGGPALFGLVTFGQSGDCCTDSGTM

Note: No experimental confirmation available.
Show »
Length:295
Mass (Da):32,711
Checksum:i7C3E89A2DBE8373E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti118 – 1181F → L in AAU29521 (Ref. 2) Curated
Sequence conflicti169 – 1691L → P in CAA53472 (PubMed:8530040).Curated
Sequence conflicti187 – 1871F → V in CAA53472 (PubMed:8530040).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MSHSSVTREAPQLLSQRQRR EVRGVWGWGCLPGPRGGPAL FGLVTFGQSGDCCTDSGTM in isoform 2. 1 PublicationVSP_055119

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X75861 mRNA. Translation: CAA53472.1.
AF033095 mRNA. Translation: AAB87479.1.
AY736129 mRNA. Translation: AAU29521.1.
AK312238 mRNA. Translation: BAG35171.1.
AC020612 Genomic DNA. No translation available.
AC084037 Genomic DNA. No translation available.
AC131157 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW58089.1.
BC000916 mRNA. Translation: AAH00916.1.
BC036203 mRNA. Translation: AAH36203.2.
CCDSiCCDS31797.1. [P55061-1]
CCDS44875.1. [P55061-2]
PIRiI38334.
RefSeqiNP_001092046.1. NM_001098576.1. [P55061-2]
NP_003208.2. NM_003217.2. [P55061-1]
XP_005269183.1. XM_005269126.3. [P55061-2]
UniGeneiHs.743965.

Genome annotation databases

EnsembliENST00000267115; ENSP00000267115; ENSG00000139644. [P55061-1]
ENST00000395006; ENSP00000378454; ENSG00000139644. [P55061-1]
ENST00000423828; ENSP00000389277; ENSG00000139644. [P55061-2]
ENST00000549385; ENSP00000448036; ENSG00000139644. [P55061-1]
ENST00000552370; ENSP00000450158; ENSG00000139644. [P55061-1]
ENST00000552699; ENSP00000446734; ENSG00000139644. [P55061-2]
GeneIDi7009.
KEGGihsa:7009.
UCSCiuc001rux.3. human. [P55061-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X75861 mRNA. Translation: CAA53472.1.
AF033095 mRNA. Translation: AAB87479.1.
AY736129 mRNA. Translation: AAU29521.1.
AK312238 mRNA. Translation: BAG35171.1.
AC020612 Genomic DNA. No translation available.
AC084037 Genomic DNA. No translation available.
AC131157 Genomic DNA. No translation available.
CH471111 Genomic DNA. Translation: EAW58089.1.
BC000916 mRNA. Translation: AAH00916.1.
BC036203 mRNA. Translation: AAH36203.2.
CCDSiCCDS31797.1. [P55061-1]
CCDS44875.1. [P55061-2]
PIRiI38334.
RefSeqiNP_001092046.1. NM_001098576.1. [P55061-2]
NP_003208.2. NM_003217.2. [P55061-1]
XP_005269183.1. XM_005269126.3. [P55061-2]
UniGeneiHs.743965.

3D structure databases

ProteinModelPortaliP55061.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112868. 25 interactions.
IntActiP55061. 4 interactions.
STRINGi9606.ENSP00000389277.

Protein family/group databases

TCDBi1.A.14.1.1. the testis-enhanced gene transfer (tegt) family.

PTM databases

iPTMnetiP55061.
PhosphoSiteiP55061.

Polymorphism and mutation databases

BioMutaiTMBIM6.
DMDMi20981681.

Proteomic databases

EPDiP55061.
MaxQBiP55061.
PaxDbiP55061.
PeptideAtlasiP55061.
PRIDEiP55061.
TopDownProteomicsiP55061-1. [P55061-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267115; ENSP00000267115; ENSG00000139644. [P55061-1]
ENST00000395006; ENSP00000378454; ENSG00000139644. [P55061-1]
ENST00000423828; ENSP00000389277; ENSG00000139644. [P55061-2]
ENST00000549385; ENSP00000448036; ENSG00000139644. [P55061-1]
ENST00000552370; ENSP00000450158; ENSG00000139644. [P55061-1]
ENST00000552699; ENSP00000446734; ENSG00000139644. [P55061-2]
GeneIDi7009.
KEGGihsa:7009.
UCSCiuc001rux.3. human. [P55061-1]

Organism-specific databases

CTDi7009.
GeneCardsiTMBIM6.
HGNCiHGNC:11723. TMBIM6.
HPAiHPA017378.
MIMi600748. gene.
neXtProtiNX_P55061.
PharmGKBiPA36440.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1629. Eukaryota.
ENOG4111GCT. LUCA.
GeneTreeiENSGT00390000006722.
HOGENOMiHOG000238748.
HOVERGENiHBG001192.
InParanoidiP55061.
OMAiIMCGFVL.
OrthoDBiEOG091G0L75.
PhylomeDBiP55061.
TreeFamiTF323395.

Miscellaneous databases

ChiTaRSiTMBIM6. human.
GeneWikiiTEGT.
GenomeRNAii7009.
PROiP55061.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139644.
CleanExiHS_TMBIM6.
ExpressionAtlasiP55061. baseline and differential.
GenevisibleiP55061. HS.

Family and domain databases

InterProiIPR006213. Bax_inhbtr1_CS.
IPR006214. Bax_inhibitor_1-related.
[Graphical view]
PANTHERiPTHR23291. PTHR23291. 1 hit.
PROSITEiPS01243. BI1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBI1_HUMAN
AccessioniPrimary (citable) accession number: P55061
Secondary accession number(s): B2R5M4
, F8W034, O14938, Q643A7, Q96J50
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 15, 2002
Last modified: September 7, 2016
This is version 145 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.