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    ERBIN erbb2 interacting protein [ Homo sapiens (human) ]

    Gene ID: 55914, updated on 6-Jun-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ERBIN in Genome Data Viewer
    Location:
    5q12.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (65926575..66082546)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (66748417..66903759)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (65222403..65378374)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex subunit 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22609 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:65015266-65015462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16058 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:65018623-65019444 Neighboring gene small glutamine rich tetratricopeptide repeat co-chaperone beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16059 Neighboring gene PRAME family member 17 pseudogene Neighboring gene neurolysin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16060 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:65220503-65221127 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:65221752-65222376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22612 Neighboring gene LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene Neighboring gene small nucleolar RNA SNORA76 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22613 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:65280169-65280787 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:65283311-65283508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22614 Neighboring gene uncharacterized LOC124900987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22617 Neighboring gene splicing regulatory glutamic acid and lysine rich protein 1

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 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 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_031822.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001006600.3NP_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: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
      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: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/TrEMBL
      Q1RMC9
      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/TrEMBL
      Q1RMC9
      Related
      ENSP00000426632.1, ENST00000506030.6
      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: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/TrEMBL
      Q1RMC9
      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/TrEMBL
      Q1RMC9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      65926575..66082546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417376.1XP_047273332.1  erbin isoform X1

      UniProtKB/TrEMBL
      Q1RMC9
    2. XM_047417378.1XP_047273334.1  erbin isoform X3

      UniProtKB/TrEMBL
      Q1RMC9
    3. XM_047417380.1XP_047273336.1  erbin isoform X5

      UniProtKB/Swiss-Prot
      A0AVR1, B4E3F1, B7ZLV9, E7EQW9, E9PCR8, Q1RMD0, Q86W38, Q96RT1, Q9NR18, Q9NW48, Q9ULJ5
      UniProtKB/TrEMBL
      Q1RMC9
    4. XM_047417382.1XP_047273338.1  erbin isoform X7

      UniProtKB/TrEMBL
      Q1RMC9
    5. XM_047417384.1XP_047273340.1  erbin isoform X9

      UniProtKB/TrEMBL
      A0A8V8TP09
    6. XM_047417377.1XP_047273333.1  erbin isoform X2

      UniProtKB/TrEMBL
      Q1RMC9
      Related
      ENSP00000425728.2, ENST00000511671.6
    7. XM_047417379.1XP_047273335.1  erbin isoform X4

      UniProtKB/TrEMBL
      A0A8V8TPC7, Q1RMC9
      Related
      ENSP00000514083.1, ENST00000699005.1
    8. XM_047417381.1XP_047273337.1  erbin isoform X6

      UniProtKB/TrEMBL
      Q1RMC9
    9. XM_047417383.1XP_047273339.1  erbin isoform X8

      UniProtKB/TrEMBL
      Q1RMC9
    10. XM_047417385.1XP_047273341.1  erbin isoform X10

      UniProtKB/TrEMBL
      A0A8V8TML4, A0A8V8TP09
      Related
      ENSP00000514089.1, ENST00000699010.1
    11. XM_005248554.4XP_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: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
    12. XM_047417386.1XP_047273342.1  erbin isoform X11

      UniProtKB/TrEMBL
      A0A8V8TPD2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      66748417..66903759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352922.1XP_054208897.1  erbin isoform X1

      UniProtKB/TrEMBL
      Q1RMC9
    2. XM_054352925.1XP_054208900.1  erbin isoform X3

      UniProtKB/TrEMBL
      Q1RMC9
    3. XM_054352927.1XP_054208902.1  erbin isoform X5

      UniProtKB/Swiss-Prot
      A0AVR1, B4E3F1, B7ZLV9, E7EQW9, E9PCR8, Q1RMD0, Q86W38, Q96RT1, Q9NR18, Q9NW48, Q9ULJ5
      UniProtKB/TrEMBL
      Q1RMC9
    4. XM_054352929.1XP_054208904.1  erbin isoform X7

      UniProtKB/TrEMBL
      Q1RMC9
    5. XM_054352931.1XP_054208906.1  erbin isoform X9

      UniProtKB/TrEMBL
      A0A8V8TP09
    6. XM_054352924.1XP_054208899.1  erbin isoform X2

      UniProtKB/TrEMBL
      Q1RMC9
    7. XM_054352926.1XP_054208901.1  erbin isoform X4

      UniProtKB/TrEMBL
      Q1RMC9
    8. XM_054352928.1XP_054208903.1  erbin isoform X6

      UniProtKB/TrEMBL
      Q1RMC9
    9. XM_054352930.1XP_054208905.1  erbin isoform X8

      UniProtKB/TrEMBL
      Q1RMC9
    10. XM_054352932.1XP_054208907.1  erbin isoform X10

      UniProtKB/TrEMBL
      A0A8V8TML4, A0A8V8TP09
    11. XM_054352923.1XP_054208898.1  erbin isoform X1

      UniProtKB/TrEMBL
      Q1RMC9
    12. XM_054352933.1XP_054208908.1  erbin isoform X11

      UniProtKB/TrEMBL
      A0A8V8TPD2