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ERBIN erbb2 interacting protein [ Homo sapiens (human) ]

Gene ID: 55914, updated on 8-Dec-2019

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
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

Genomic context

See ERBIN in Genome Data Viewer
Location:
5q12.3
Exon count:
29
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (65926554..66082546)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (65222382..65376851)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex 13 Neighboring gene small glutamine rich tetratricopeptide repeat containing beta Neighboring gene PRAME family member 17 pseudogene Neighboring gene neurolysin Neighboring gene LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene Neighboring gene splicing regulatory glutamic acid and lysine rich protein 1 Neighboring gene long intergenic non-protein coding RNA 2065

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Downregulation of ERBB2 signaling, organism-specific biosystem (from REACTOME)
    Downregulation of ERBB2 signaling, organism-specific biosystemSignaling by ERBB2 can be downregulated by ubiquitination and subsequent proteasome-dependent degradation of ERBB2 or activated ERBB2 heterodimers. In addition, protein tyrosine phosphatases that dep...
  • NLR Proteins, organism-specific biosystem (from WikiPathways)
    NLR Proteins, organism-specific biosystemMammalian cells have evolved a set of specialized pattern recognition-molecules (PRMs) to detect conserved molecular motifs present on pathogens known as pathogen associated-molecular-patterns (PAMPs...
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystem (from WikiPathways)
    Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...
  • Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
    Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
    Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ErbB-2 class receptor binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ERBB2 signaling pathway TAS
Traceable Author Statement
more info
 
basal protein localization NAS
Non-traceable Author Statement
more info
PubMed 
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to tumor necrosis factor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to tumor necrosis factor IMP
Inferred from Mutant Phenotype
more info
PubMed 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
establishment or maintenance of epithelial cell apical/basal polarity NAS
Non-traceable Author Statement
more info
PubMed 
integrin-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
intermediate filament cytoskeleton organization NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of monocyte chemotactic protein-1 production IEA
Inferred from Electronic Annotation
more info
 
negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting IEA
Inferred from Electronic Annotation
more info
 
regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to muramyl dipeptide IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
basal plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
basement membrane TAS
Traceable Author Statement
more info
PubMed 
basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
hemidesmosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
erbin
Names
densin-180-like protein
epididymis secretory protein Li 78
protein LAP2

NCBI Reference Sequences (RefSeq)

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

  1. NG_031822.1 RefSeqGene

    Range
    5022..160993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001006600.2NP_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, BC144075, BP199825, BP342103, BU145959, DA723889, DR000131, N67861
    Consensus CDS
    CCDS34172.1
    UniProtKB/Swiss-Prot
    Q96RT1
    Related
    ENSP00000370322.1, ENST00000380935.5
    Conserved Domains (4) summary
    cd00116
    Location:48209
    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:12121297
    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:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  2. NM_001253697.2NP_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
    Q96RT1
    Related
    ENSP00000284037.4, ENST00000284037.9
    Conserved Domains (5) summary
    cd00116
    Location:48209
    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:13211407
    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:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  3. NM_001253698.2NP_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/Swiss-Prot
    Q96RT1
    Related
    ENSP00000370325.2, ENST00000380938.6
    Conserved Domains (5) summary
    cd00116
    Location:48209
    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:12801341
    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:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  4. NM_001253699.2NP_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/Swiss-Prot
    Q96RT1
    Related
    ENSP00000426632.1, ENST00000506030.5
    Conserved Domains (5) summary
    cd00116
    Location:48209
    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:13281414
    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:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  5. NM_001253701.2NP_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/Swiss-Prot
    Q96RT1
    Related
    ENSP00000422766.1, ENST00000511297.5
    Conserved Domains (5) summary
    cd00116
    Location:48209
    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:12761362
    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:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  6. NM_018695.4NP_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/Swiss-Prot
    Q96RT1
    Related
    ENSP00000370330.2, ENST00000380943.6
    Conserved Domains (5) summary
    cd00116
    Location:48209
    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:12801366
    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:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    65926554..66082546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248554.3XP_005248611.1  erbin isoform X1

    See identical proteins and their annotated locations for XP_005248611.1

    Conserved Domains (5) summary
    cd00116
    Location:48209
    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:13691455
    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:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  2. XM_017009637.2XP_016865126.1  erbin isoform X4

  3. XM_005248555.4XP_005248612.1  erbin isoform X2

    Conserved Domains (5) summary
    cd00116
    Location:48209
    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:13651451
    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:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  4. XM_017009636.2XP_016865125.1  erbin isoform X3

  5. XM_006714660.4XP_006714723.1  erbin isoform X5

    Conserved Domains (3) summary
    cd00116
    Location:48209
    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 ...
    sd00033
    Location:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
  6. XM_017009635.2XP_016865124.1  erbin isoform X1

    Conserved Domains (5) summary
    cd00116
    Location:48209
    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:13691455
    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:2447
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:368411
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:322380
    LRR_8; Leucine rich repeat
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