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Protein

Bax inhibitor 1

Gene

TMBIM6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processApoptosis, Autophagy, Unfolded protein response
LigandCalcium

Protein family/group databases

TCDBi1.A.14.1.1 the calcium transporter a (cata) (formerly 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

EuPathDBiHostDB:ENSG00000139644.12
HGNCiHGNC:11723 TMBIM6
MIMi600748 gene
neXtProtiNX_P55061

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 29CytoplasmicSequence analysisAdd BLAST29
Transmembranei30 – 50HelicalSequence analysisAdd BLAST21
Topological domaini51 – 52LumenalSequence analysis2
Transmembranei53 – 73HelicalSequence analysisAdd BLAST21
Topological domaini74 – 86CytoplasmicSequence analysisAdd BLAST13
Transmembranei87 – 107HelicalSequence analysisAdd BLAST21
Topological domaini108 – 112LumenalSequence analysis5
Transmembranei113 – 133HelicalSequence analysisAdd BLAST21
Topological domaini134 – 139CytoplasmicSequence analysis6
Transmembranei140 – 160HelicalSequence analysisAdd BLAST21
Topological domaini161 – 166LumenalSequence analysis6
Transmembranei167 – 187HelicalSequence analysisAdd BLAST21
Topological domaini188 – 206CytoplasmicSequence analysisAdd BLAST19
Intramembranei207 – 227HelicalSequence analysisAdd BLAST21
Topological domaini228 – 237CytoplasmicSequence analysis10

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi209D → A: Abolishes calcium flux properties. 1 Publication1
Mutagenesisi213D → A: Abolishes calcium flux properties. 1 Publication1

Organism-specific databases

DisGeNETi7009
OpenTargetsiENSG00000139644
PharmGKBiPA36440

Polymorphism and mutation databases

BioMutaiTMBIM6
DMDMi20981681

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001790781 – 237Bax inhibitor 1Add BLAST237

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki7Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiP55061
MaxQBiP55061
PaxDbiP55061
PeptideAtlasiP55061
PRIDEiP55061
ProteomicsDBi56774
TopDownProteomicsiP55061-1 [P55061-1]

PTM databases

iPTMnetiP55061
PhosphoSitePlusiP55061

Expressioni

Tissue specificityi

Highly abundant in testis.1 Publication

Gene expression databases

BgeeiENSG00000139644 Expressed in 237 organ(s), highest expression level in cortex of kidney
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

Protein-protein interaction databases

BioGridi112868, 30 interactors
IntActiP55061, 53 interactors
MINTiP55061
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
KOiK21889
OMAiPVRQHLK
OrthoDBiEOG091G0L75
PhylomeDBiP55061
TreeFamiTF323395

Family and domain databases

InterProiView protein in InterPro
IPR006213 Bax_inhbtr1_CS
IPR006214 Bax_inhibitor_1-related
PANTHERiPTHR23291 PTHR23291, 1 hit
PfamiView protein in Pfam
PF01027 Bax1-I, 1 hit
PROSITEiView protein in PROSITE
PS01243 BI1, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VQQ5F8VQQ5_HUMAN
Bax inhibitor 1
TMBIM6
130Annotation score:
F8VSI7F8VSI7_HUMAN
Bax inhibitor 1
TMBIM6
138Annotation score:
F8VVJ4F8VVJ4_HUMAN
Bax inhibitor 1
TMBIM6
145Annotation score:
F8VR05F8VR05_HUMAN
Bax inhibitor 1
TMBIM6
113Annotation score:
F8W086F8W086_HUMAN
Bax inhibitor 1
TMBIM6
108Annotation score:
F8VPI1F8VPI1_HUMAN
Bax inhibitor 1
TMBIM6
89Annotation score:
F8W201F8W201_HUMAN
Bax inhibitor 1
TMBIM6
95Annotation score:
F8W1V3F8W1V3_HUMAN
Bax inhibitor 1
TMBIM6
200Annotation score:
F8VQW0F8VQW0_HUMAN
Bax inhibitor 1
TMBIM6
41Annotation score:
F8VX73F8VX73_HUMAN
Bax inhibitor 1
TMBIM6
44Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti118F → L in AAU29521 (Ref. 2) Curated1
Sequence conflicti169L → P in CAA53472 (PubMed:8530040).Curated1
Sequence conflicti187F → V in CAA53472 (PubMed:8530040).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0551191M → MSHSSVTREAPQLLSQRQRR EVRGVWGWGCLPGPRGGPAL FGLVTFGQSGDCCTDSGTM in isoform 2. 1 Publication1

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

Similar proteinsi

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, 30 interactors
IntActiP55061, 53 interactors
MINTiP55061
STRINGi9606.ENSP00000389277

Protein family/group databases

TCDBi1.A.14.1.1 the calcium transporter a (cata) (formerly the testis-enhanced gene transfer (tegt) family

PTM databases

iPTMnetiP55061
PhosphoSitePlusiP55061

Polymorphism and mutation databases

BioMutaiTMBIM6
DMDMi20981681

Proteomic databases

EPDiP55061
MaxQBiP55061
PaxDbiP55061
PeptideAtlasiP55061
PRIDEiP55061
ProteomicsDBi56774
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
DisGeNETi7009
EuPathDBiHostDB:ENSG00000139644.12
GeneCardsiTMBIM6
HGNCiHGNC:11723 TMBIM6
HPAiHPA017378
MIMi600748 gene
neXtProtiNX_P55061
OpenTargetsiENSG00000139644
PharmGKBiPA36440
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1629 Eukaryota
ENOG4111GCT LUCA
GeneTreeiENSGT00390000006722
HOGENOMiHOG000238748
HOVERGENiHBG001192
InParanoidiP55061
KOiK21889
OMAiPVRQHLK
OrthoDBiEOG091G0L75
PhylomeDBiP55061
TreeFamiTF323395

Miscellaneous databases

ChiTaRSiTMBIM6 human
GeneWikiiTEGT
GenomeRNAii7009
PROiPR:P55061
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139644 Expressed in 237 organ(s), highest expression level in cortex of kidney
CleanExiHS_TMBIM6
ExpressionAtlasiP55061 baseline and differential
GenevisibleiP55061 HS

Family and domain databases

InterProiView protein in InterPro
IPR006213 Bax_inhbtr1_CS
IPR006214 Bax_inhibitor_1-related
PANTHERiPTHR23291 PTHR23291, 1 hit
PfamiView protein in Pfam
PF01027 Bax1-I, 1 hit
PROSITEiView protein in PROSITE
PS01243 BI1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBI1_HUMAN
AccessioniPrimary (citable) accession number: P55061
Secondary accession number(s): B2R5M4
, F8W034, O14938, Q643A7, Q96J50
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 15, 2002
Last modified: September 12, 2018
This is version 161 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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