ERBIN erbb2 interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERBINprovided by HGNC
Official Full Name: erbb2 interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:15842
See related: Ensembl:ENSG00000112851 MIM:606944; AllianceGenome:HGNC:15842
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: LAP2; ERBB2IP; HEL-S-78
Summary: This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression: Ubiquitous expression in small intestine (RPKM 17.6), lymph node (RPKM 17.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q12.3

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (65926575..66082546)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (66748417..66903759)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (65222403..65378374)

Chromosome 5 - NC_000005.10 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 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?

Targeting Erbin-mitochondria axis in platelets/megakaryocytes promotes B cell-mediated antitumor immunity.
Title: Targeting Erbin-mitochondria axis in platelets/megakaryocytes promotes B cell-mediated antitumor immunity.
Exosomal ERBB2IP contributes to tumor growth via elevating PSAT1 expression in non-small cell lung carcinoma.
Title: Exosomal ERBB2IP contributes to tumor growth via elevating PSAT1 expression in non-small cell lung carcinoma.
Targeting Erbin in B cells for therapy of lung metastasis of colorectal cancer.
Title: Targeting Erbin in B cells for therapy of lung metastasis of colorectal cancer.
The leucine-rich repeat signaling scaffolds Shoc2 and Erbin: cellular mechanism and role in disease.
Title: The leucine-rich repeat signaling scaffolds Shoc2 and Erbin: cellular mechanism and role in disease.
Findings show that ERBIN is required for Dsg1 requires to downregulate EGFR/Erk signaling and fully suppress invadopodia formation.
Title: Desmoglein 1 Regulates Invadopodia by Suppressing EGFR/Erk Signaling in an Erbin-Dependent Manner.
Erbin is mainly localized in endothelial cells in human umbilical veins and plays a critical role in endothelial cell migration and tubular formation via the Smad1/5 pathway.
Title: Erbin plays a critical role in human umbilical vein endothelial cell migration and tubular structure formation via the Smad1/5 pathway.
Erbin interacted with kinase suppressor of Ras 1 (KSR1) and displaced it from the RAF/MEK/ERK complex to prevent signal propagation..These findings establish the scaffold protein Erbin as a negative regulator of EMT and tumorigenesis in colorectal cancer through direct suppression of Akt and RAS/RAF signaling
Title: Erbin Suppresses KSR1-Mediated RAS/RAF Signaling and Tumorigenesis in Colorectal Cancer.
Erbb2 interacting protein (ERBB2IP), a known target of miR-23c, was positively regulated by KTN1-AS1.
Title: LncRNA KTN1-AS1 promotes tumor growth of hepatocellular carcinoma by targeting miR-23c/ERBB2IP axis.
miR-23c inhibited cell proliferation and accelerated apoptosis by attenuating ERBB2IP.
Title: miR-23c suppresses tumor growth of human hepatocellular carcinoma by attenuating ERBB2IP.
Our data uncovered an important role of Erbin in regulating hepatocellular carcinoma (HCC) tumorigenesis through inactivating ERalpha-mediated tumor-suppressive signaling, suggesting a new strategy for tamoxifen therapy in HCC by targeting Erbin/ERalpha signaling axis.
Title: Elevated expression of Erbin destabilizes ERα protein and promotes tumorigenesis in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

G07329 (e-PCR)
- UniSTS:42247

RH78179 (e-PCR)
- UniSTS:9757

ERBB2IP (e-PCR)
- UniSTS:505733

SHGC-144444 (e-PCR)
- UniSTS:184716

RH36556 (e-PCR)
- UniSTS:37800

RH46258 (e-PCR)
- UniSTS:76738

D5S356 (e-PCR)
- UniSTS:147166

SHGC-31186 (e-PCR)
- UniSTS:21739

SGC33426 (e-PCR)
- UniSTS:3314

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ErbB-2 class receptor binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in basal protein localization	NAS Non-traceable Author Statement more info	PubMed
involved_in cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to tumor necrosis factor	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in establishment or maintenance of epithelial cell apical/basal polarity	NAS Non-traceable Author Statement more info	PubMed
involved_in integrin-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in intermediate filament cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of monocyte chemotactic protein-1 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to muramyl dipeptide	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in basal plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in basement membrane	TAS Traceable Author Statement more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in hemidesmosome	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic specialization	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: erbin

Names: densin-180-like protein; epididymis secretory protein Li 78; protein LAP2

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_031822.2 RefSeqGene

Range

5022..160993

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001006600.3 → NP_001006600.1 erbin isoform 7

See identical proteins and their annotated locations for NP_001006600.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks two consecutive exons in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (7) is shorter than isoform 1.

Source sequence(s)

AB033051, AC025442, BC144075, BP199825, BP342103, BU145959, DA723889, DR000131, N67861

Consensus CDS

CCDS34172.1

UniProtKB/TrEMBL

A0A8V8TP09

Related

ENSP00000422015.1, ENST00000508515.2

Conserved Domains (4) summary

cd00116
Location:48 → 209

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd00992
Location:1212 → 1297

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

sd00033
Location:24 → 47

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:322 → 380

LRR_8; Leucine rich repeat
NM_001253697.2 → NP_001240626.1 erbin isoform 1

See identical proteins and their annotated locations for NP_001240626.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AB033051, AC025442, AF276423, BC144075, BP342103, DR000131, N67861

Consensus CDS

CCDS58953.1

UniProtKB/Swiss-Prot

A0AVR1, B4E3F1, B7ZLV9, E7EQW9, E9PCR8, Q1RMD0, Q86W38, Q96RT1, Q9NR18, Q9NW48, Q9ULJ5

UniProtKB/TrEMBL

Q1RMC9

Related

ENSP00000284037.4, ENST00000284037.10

Conserved Domains (5) summary

cd00116
Location:48 → 209

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd00992
Location:1321 → 1407

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

sd00033
Location:24 → 47

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:368 → 411

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:322 → 380

LRR_8; Leucine rich repeat
NM_001253698.2 → NP_001240627.1 erbin isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two exons in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AB033051, AC025442, AK304693, BC144075, BP342103, DR000131, N67861

Consensus CDS

CCDS58954.1

UniProtKB/TrEMBL

Q1RMC9

Related

ENSP00000370325.2, ENST00000380938.6

Conserved Domains (5) summary

cd00116
Location:48 → 209

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd00992
Location:1280 → 1341

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

sd00033
Location:24 → 47

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:368 → 411

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:322 → 380

LRR_8; Leucine rich repeat
NM_001253699.2 → NP_001240628.1 erbin isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks an exon and includes an alternate exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (8) is longer than isoform 1.

Source sequence(s)

AB033051, AC025442, BC144075, BP342103, DR000131, N67861

Consensus CDS

CCDS58952.1

UniProtKB/TrEMBL

Q1RMC9

Related

ENSP00000426632.1, ENST00000506030.6

Conserved Domains (5) summary

cd00116
Location:48 → 209

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd00992
Location:1328 → 1414

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

sd00033
Location:24 → 47

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:368 → 411

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:322 → 380

LRR_8; Leucine rich repeat
NM_001253701.2 → NP_001240630.1 erbin isoform 9

Status: REVIEWED

Description

Transcript Variant: This variant (9) uses an alternate splice site and lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (9) is shorter than isoform 1.

Source sequence(s)

AB033051, AC025442, BC050692, BC144075, BP342103, DR000131, N67861

Consensus CDS

CCDS58951.1

UniProtKB/TrEMBL

Q1RMC9

Related

ENSP00000422766.1, ENST00000511297.5

Conserved Domains (5) summary

cd00116
Location:48 → 209

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd00992
Location:1276 → 1362

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

sd00033
Location:24 → 47

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:368 → 411

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:322 → 380

LRR_8; Leucine rich repeat
NM_018695.4 → NP_061165.1 erbin isoform 2

See identical proteins and their annotated locations for NP_061165.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AB033051, AC025442, BC126464, BC144075, BP342103, DR000131, N67861

Consensus CDS

CCDS3990.1

UniProtKB/TrEMBL

Q1RMC9

Related

ENSP00000370330.2, ENST00000380943.6

Conserved Domains (5) summary

cd00116
Location:48 → 209

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd00992
Location:1280 → 1366

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

sd00033
Location:24 → 47

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:368 → 411

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:322 → 380

LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

65926575..66082546

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417376.1 → XP_047273332.1 erbin isoform X1
XM_047417378.1 → XP_047273334.1 erbin isoform X3
XM_047417380.1 → XP_047273336.1 erbin isoform X5

UniProtKB/Swiss-Prot

A0AVR1, B4E3F1, B7ZLV9, E7EQW9, E9PCR8, Q1RMD0, Q86W38, Q96RT1, Q9NR18, Q9NW48, Q9ULJ5
XM_047417382.1 → XP_047273338.1 erbin isoform X7
XM_047417384.1 → XP_047273340.1 erbin isoform X9
XM_047417377.1 → XP_047273333.1 erbin isoform X2

Related

ENSP00000425728.2, ENST00000511671.6
XM_047417379.1 → XP_047273335.1 erbin isoform X4

UniProtKB/TrEMBL

A0A8V8TPC7

Related

ENSP00000514083.1, ENST00000699005.1
XM_047417381.1 → XP_047273337.1 erbin isoform X6
XM_047417383.1 → XP_047273339.1 erbin isoform X8
XM_047417385.1 → XP_047273341.1 erbin isoform X10

UniProtKB/TrEMBL

A0A8V8TML4

Related

ENSP00000514089.1, ENST00000699010.1
XM_005248554.4 → XP_005248611.1 erbin isoform X1

See identical proteins and their annotated locations for XP_005248611.1

UniProtKB/TrEMBL

Q1RMC9

Conserved Domains (5) summary

cd00116
Location:48 → 209

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cd00992
Location:1369 → 1455

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

sd00033
Location:24 → 47

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:368 → 411

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:322 → 380

LRR_8; Leucine rich repeat
XM_047417386.1 → XP_047273342.1 erbin isoform X11