BIN1 bridging integrator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BIN1provided by HGNC
Official Full Name: bridging integrator 1provided by HGNC
Primary source: HGNC:HGNC:1052
See related: Ensembl:ENSG00000136717 MIM:601248; AllianceGenome:HGNC:1052
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CNM2; AMPH2; AMPHL; SH3P9
Summary: This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
Expression: Ubiquitous expression in brain (RPKM 31.3), kidney (RPKM 18.5) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q14.3

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (127048023..127107154, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (127482408..127541545, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (127805599..127864730, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Alzheimer's disease risk gene BIN1 regulates activity-dependent gene expression in human-induced glutamatergic neurons.
Title: The Alzheimer's disease risk gene BIN1 regulates activity-dependent gene expression in human-induced glutamatergic neurons.
BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation.
Title: BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation.
BIN1[K358R] suppresses glial response to plaques in mouse model of Alzheimer's disease.
Title: BIN1(K358R) suppresses glial response to plaques in mouse model of Alzheimer's disease.
BIN1 in the Pursuit of Ousting the Alzheimer's Reign: Impact on Amyloid and Tau Neuropathology.
Title: BIN1 in the Pursuit of Ousting the Alzheimer's Reign: Impact on Amyloid and Tau Neuropathology.
APOE-epsilon4 and BIN1 increase risk of Alzheimer's disease pathology but not specifically of Lewy body pathology.
Title: APOE-ε4 and BIN1 increase risk of Alzheimer's disease pathology but not specifically of Lewy body pathology.
High Indoleamine 2,3-Dioxygenase Expression along with Low Bridging Integrator-1 Expression in Hepatocellular Carcinoma Patients.
Title: High Indoleamine 2,3-Dioxygenase Expression along with Low Bridging Integrator-1 Expression in Hepatocellular Carcinoma Patients.
BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
Title: BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
Genetic polymorphism in BIN1 rather than APOE is associated with poor recognition memory among men without dementia.
Title: Genetic polymorphism in BIN1 rather than APOE is associated with poor recognition memory among men without dementia.
Bridging Integrator 1 (BIN1, rs6733839) and Sex Are Moderators of Vascular Health Predictions of Memory Aging Trajectories.
Title: Bridging Integrator 1 (BIN1, rs6733839) and Sex Are Moderators of Vascular Health Predictions of Memory Aging Trajectories.
Link of BIN1, CLU, and IDE Gene Polymorphisms with the Susceptibility of Alzheimer's Disease: Evidence from a Meta-analysis.
Title: Link of BIN1, CLU, and IDE Gene Polymorphisms with the Susceptibility of Alzheimer's Disease: Evidence from a Meta-analysis.

Submit: New GeneRIF Correction See all GeneRIFs (141)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Myopathy, centronuclear, 2 MedGen: C0410204 OMIM: 255200 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Alzheimer's disease with psychotic symptoms. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH120786 (e-PCR)
- UniSTS:132866

PMC156129P2 (e-PCR)
- UniSTS:271364

STS-AA039724 (e-PCR)
- UniSTS:77577

D2S1563E (e-PCR)
- UniSTS:150648

RH122339 (e-PCR)
- UniSTS:137861

G29312 (e-PCR)
- UniSTS:43507

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables aspartic-type endopeptidase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables clathrin binding	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipid binding	EXP Inferred from Experiment more info	PubMed
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IEA Inferred from Electronic Annotation more info
enables tau protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables tau protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tau protein binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in T-tubule organization	IDA Inferred from Direct Assay more info	PubMed
involved_in T-tubule organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in endocytosis	TAS Traceable Author Statement more info	PubMed
involved_in endosome to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid tube assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid tube assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ventricular cardiac muscle cell action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in nucleus localization	IEA Inferred from Electronic Annotation more info
involved_in nucleus organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of actin filament polymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of astrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of heart rate by cardiac conduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in I band	ISS Inferred from Sequence or Structural Similarity more info
part_of RNA polymerase II transcription repressor complex	IPI Inferred from Physical Interaction more info	PubMed
located_in T-tubule	ISS Inferred from Sequence or Structural Similarity more info
located_in Z disc	ISS Inferred from Sequence or Structural Similarity more info
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in axon initial segment	ISS Inferred from Sequence or Structural Similarity more info
located_in axon terminus	IEA Inferred from Electronic Annotation more info
located_in cerebellar mossy fiber	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in extrinsic component of synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
part_of lipid tube	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in node of Ranvier	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in varicosity	IEA Inferred from Electronic Annotation more info
located_in vesicle	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: myc box-dependent-interacting protein 1

Names: amphiphysin 2; amphiphysin II; amphiphysin-like protein; box dependant MYC interacting protein 1; box-dependent myc-interacting protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012042.1 RefSeqGene

Range

5135..64257

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_873

mRNA and Protein(s)

NM_001320632.2 → NP_001307561.1 myc box-dependent-interacting protein 1 isoform 13

Status: REVIEWED

Description

Transcript Variant: This variant (13) lacks six alternate in-frame exons and contains another alternate in-frame exon compared to variant 1. The resulting isoform (13) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AF068916, AL713697, BC004101, BM711160

Consensus CDS

CCDS82508.1

UniProtKB/TrEMBL

Q9BTH3

Related

ENSP00000365281.2, ENST00000376113.6

Conserved Domains (2) summary

cd07611
Location:31 → 241

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:352 → 423

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
NM_001320633.2 → NP_001307562.1 myc box-dependent-interacting protein 1 isoform 14

Status: REVIEWED

Description

Transcript Variant: This variant (14) lacks four alternate in-frame exons compared to variant 1. The resulting isoform (14) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC012508, AK295300, AL713697, BC004101, BM711160

UniProtKB/TrEMBL

B7Z2Z2

Conserved Domains (3) summary

cd07611
Location:31 → 272

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:398 → 469

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

pfam16072
Location:275 → 351

DUF4813; Domain of unknown function (DUF4813)
NM_001320634.1 → NP_001307563.1 myc box-dependent-interacting protein 1 isoform 16

Status: REVIEWED

Description

Transcript Variant: This variant (16) differs in the 5' UTR and coding sequence and lacks six alternate in-frame exons compared to variant 1. The resulting isoform (16) is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AC012508, AK301153, BC004101, BM711160

UniProtKB/TrEMBL

B7Z6Y2, Q9BTH3

Conserved Domains (2) summary

cd07611
Location:7 → 217

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:313 → 384

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
NM_001320640.2 → NP_001307569.1 myc box-dependent-interacting protein 1 isoform 11

Status: REVIEWED

Description

Transcript Variant: This variant (11) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (11) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL537027, AL713697, BC004101, BM711160, DR761993

UniProtKB/TrEMBL

B7Z2Z2

Conserved Domains (2) summary

cd07611
Location:31 → 272

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:441 → 512

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
NM_001320641.2 → NP_001307570.1 myc box-dependent-interacting protein 1 isoform 12

Status: REVIEWED

Description

Transcript Variant: This variant (12) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (12) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC012508, AL713697, AW411140, BC004101, BE047931, BM711160, BM742027, BM805510

UniProtKB/TrEMBL

Q8WWH9

Conserved Domains (2) summary

cd07611
Location:31 → 241

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:490 → 561

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
NM_001320642.1 → NP_001307571.1 myc box-dependent-interacting protein 1 isoform 15

Status: REVIEWED

Description

Transcript Variant: This variant (15) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (15) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC012508, AL713697, BM711160

UniProtKB/TrEMBL

Q8WWH9

Conserved Domains (2) summary

cd07611
Location:4 → 245

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:494 → 565

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
NM_004305.4 → NP_004296.1 myc box-dependent-interacting protein 1 isoform 8

See identical proteins and their annotated locations for NP_004296.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks five in-frame exons and has an additional in-frame exon in the coding region, compared to variant 1. Isoform 8 is shorter than isoform 1. It is expressed in muscle and localizes to the nucleus.

Source sequence(s)

AF070576, BM711160, CF594020, U68485

Consensus CDS

CCDS2137.1

UniProtKB/TrEMBL

Q9BTH3

Related

ENSP00000315284.4, ENST00000352848.8

Conserved Domains (3) summary

cd07611
Location:31 → 241

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:382 → 453

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

PHA03247
Location:249 → 379

PHA03247; large tegument protein UL36; Provisional
NM_139343.3 → NP_647593.1 myc box-dependent-interacting protein 1 isoform 1

See identical proteins and their annotated locations for NP_647593.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform, which is cytoplasmic. Isoform 1, also called IIa and S11R3-a, binds dynamin, synaptojanin, and clathrin. This isoform is expressed exclusively in the brain and is concentrated in nerve terminals.

Source sequence(s)

AF004015, AF070576, BM711160, CF594020, U87558

Consensus CDS

CCDS2138.1

UniProtKB/Swiss-Prot

O00297, O00499, O00545, O43867, O60552, O60553, O60554, O60555, O75514, O75515, O75516, O75517, O75518, Q659B7, Q92944, Q99688

UniProtKB/TrEMBL

Q8WWH9

Related

ENSP00000316779.5, ENST00000316724.10

Conserved Domains (2) summary

cd07611
Location:31 → 272

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:521 → 592

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
NM_139344.3 → NP_647594.1 myc box-dependent-interacting protein 1 isoform 2

See identical proteins and their annotated locations for NP_647594.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. Isoform 2, also called IId and S1/R3-6, is shorter than isoform 1 and binds dynamin, synaptojanin, and clathrin.

Source sequence(s)

AC012508, AF043901, AF070576, BM711160, CF594020

Consensus CDS

CCDS2139.1

UniProtKB/TrEMBL

B7Z2Z2

Related

ENSP00000350654.3, ENST00000357970.7

Conserved Domains (3) summary

cd07611
Location:31 → 272

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:478 → 549

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

pfam15262
Location:284 → 395

DUF4592; Domain of unknown function (DUF4592)
NM_139345.3 → NP_647595.1 myc box-dependent-interacting protein 1 isoform 3

See identical proteins and their annotated locations for NP_647595.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks three in-frame exons in the coding region, compared to variant 1. Isoform 3, also called IIc1, is shorter than isoform 1 and binds dynamin and synaptojanin.

Source sequence(s)

AC012508, AF043899, AF070576, BM711160, CF594020

Consensus CDS

CCDS2140.1

UniProtKB/TrEMBL

B7Z2Z2

Related

ENSP00000315388.3, ENST00000351659.7

Conserved Domains (2) summary

cd07611
Location:31 → 272

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:434 → 505

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
NM_139346.3 → NP_647596.1 myc box-dependent-interacting protein 1 isoform 4

See identical proteins and their annotated locations for NP_647596.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks four in-frame exons and has an additional in-frame exon in the coding region, compared to variant 1. Isoform 4 is shorter than isoform 1.

Source sequence(s)

AF068918, AF070576, BM711160, CF594020

Consensus CDS

CCDS2141.1

UniProtKB/TrEMBL

Q9BTH3

Related

ENSP00000259238.4, ENST00000259238.8

Conserved Domains (2) summary

cd07611
Location:31 → 241

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:425 → 496

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
NM_139347.3 → NP_647597.1 myc box-dependent-interacting protein 1 isoform 5

See identical proteins and their annotated locations for NP_647597.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks three in-frame exons in the coding region, compared to variant 1. Isoform 5, also called IIb, is shorter than isoform 1 and binds dynamin, synaptojanin, and endophilin.

Source sequence(s)

AC012508, AF043898, AF070576, BM711160, CF594020

Consensus CDS

CCDS2142.1

UniProtKB/TrEMBL

Q8WWH9

Related

ENSP00000315411.3, ENST00000346226.7

Conserved Domains (2) summary

cd07611
Location:31 → 241

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:446 → 517

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
NM_139348.3 → NP_647598.1 myc box-dependent-interacting protein 1 isoform 6

See identical proteins and their annotated locations for NP_647598.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks four in-frame exons in the coding region, compared to variant 1. Isoform 6, also called subtype 2, is shorter than isoform 1.

Source sequence(s)

AF068917, AF070576, BM711160, CF594020

Consensus CDS

CCDS42744.1

UniProtKB/TrEMBL

Q9BTH3

Related

ENSP00000376760.3, ENST00000393040.7

Conserved Domains (2) summary

cd07611
Location:31 → 241

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:410 → 481

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
NM_139349.3 → NP_647599.1 myc box-dependent-interacting protein 1 isoform 7

See identical proteins and their annotated locations for NP_647599.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks three in-frame exons in the coding region, compared to variant 1. Isoform 7, also called IIc2 and S1/R3-c, is shorter than isoform 1 and binds dynamin and synaptojanin.

Source sequence(s)

AC012508, AF043900, AF070576, BM711160, CF594020

Consensus CDS

CCDS42743.1

UniProtKB/TrEMBL

Q9BTH3

Related

ENSP00000376761.3, ENST00000393041.7

Conserved Domains (2) summary

cd07611
Location:31 → 241

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:403 → 474

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2
NM_139350.3 → NP_647600.1 myc box-dependent-interacting protein 1 isoform 9

See identical proteins and their annotated locations for NP_647600.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) lacks five in-frame exons in the coding region, compared to variant 1. Isoform 9, also called BIN1-10, is shorter than isoform 1 and is ubiquitously expressed.

Source sequence(s)

AF068914, AF070576, BC004101, BM711160, CF594020

Consensus CDS

CCDS46403.1

UniProtKB/TrEMBL

Q9BTH3

Related

ENSP00000386797.1, ENST00000409400.1

Conserved Domains (3) summary

cd07611
Location:31 → 241

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:367 → 438

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2

pfam16072
Location:244 → 320

DUF4813; Domain of unknown function (DUF4813)
NM_139351.3 → NP_647601.1 myc box-dependent-interacting protein 1 isoform 10

See identical proteins and their annotated locations for NP_647601.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) lacks six in-frame exons in the coding region, compared to variant 1. Isoform 10, also called BIN1-10-13, is shorter than isoform 1 and is ubiquitously expressed.

Source sequence(s)

AF068915, AF070576, BM711160, CF594020

Consensus CDS

CCDS2143.1

UniProtKB/TrEMBL

Q9BTH3

Related

ENSP00000259237.5, ENST00000348750.8

Conserved Domains (2) summary

cd07611
Location:31 → 241

BAR_Amphiphysin_I_II; The Bin/Amphiphysin/Rvs (BAR) domain of Amphiphysin I and II

cd12139
Location:337 → 408

SH3_Bin1; Src Homology 3 domain of Bridging integrator 1 (Bin1), also called Amphiphysin-2