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EHBP1L1 EH domain binding protein 1 like 1 [ Homo sapiens (human) ]

Gene ID: 254102, updated on 5-Mar-2024

Summary

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Official Symbol
EHBP1L1provided by HGNC
Official Full Name
EH domain binding protein 1 like 1provided by HGNC
Primary source
HGNC:HGNC:30682
See related
Ensembl:ENSG00000173442 MIM:619583; AllianceGenome:HGNC:30682
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to be involved in actin cytoskeleton organization. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 34.0), appendix (RPKM 32.9) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
11q13.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65576053..65592650)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65570286..65586883)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65343524..65360121)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3540 Neighboring gene zinc ribbon domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3543 Neighboring gene family with sequence similarity 89 member B Neighboring gene Sharpr-MPRA regulatory region 14514 Neighboring gene uncharacterized LOC124902692 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:65355424-65355944 and GRCh37_chr11:65355945-65356464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65356597-65357098 Neighboring gene potassium two pore domain channel subfamily K member 7 Neighboring gene mitogen-activated protein kinase kinase kinase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65380127-65381014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3545

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. EHBP1L1 Drives Immune Evasion in Renal Cell Carcinoma through Binding and Stabilizing JAK1. Pan Y, et al. Adv Sci (Weinh), 2023 Apr. PMID 36775874, Free PMC Article
  2. Identification of genes downstream of Pax6 in the mouse lens using cDNA microarrays. Chauhan BK, et al. J Biol Chem, 2002 Mar 29. PMID 11790784
  3. EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells. Nakajo A, et al. J Cell Biol, 2016 Feb 1. PMID 26833786, Free PMC Article
  4. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. Chalasani N, et al. Gastroenterology, 2010 Nov. PMID 20708005, Free PMC Article
  5. Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. Simino J, et al. Am J Hum Genet, 2014 Jul 3. PMID 24954895, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EHBP1L1 Drives Immune Evasion in Renal Cell Carcinoma through Binding and Stabilizing JAK1.
    Title: EHBP1L1 Drives Immune Evasion in Renal Cell Carcinoma through Binding and Stabilizing JAK1.
  2. Data demonstrate that EHBP1L1 links Rab8 and the Bin1-dynamin complex, which generates membrane curvature and excises the vesicle at the endocytic recycling compartment for apical transport.
    Title: EHBP1L1 coordinates Rab8 and Bin1 to regulate apical-directed transport in polarized epithelial cells.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
EBI GWAS Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ35431, DKFZp762C186

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
EH domain-binding protein 1-like protein 1
Names
tangerin

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.

mRNA and Protein(s)

  1. NM_001099409.3 → NP_001092879.1  EH domain-binding protein 1-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001092879.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK024451, AL834433, AP001362, BU630372, BX443367, CA397617
    Consensus CDS
    CCDS44649.1
    UniProtKB/Swiss-Prot
    Q8N3D4, Q8TB89, Q9H7M7
    Related
    ENSP00000312671.4, ENST00000309295.9
    Conserved Domains (4) summary
    pfam00307
    Location:1038 → 1137
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12 → 164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:1359 → 1499
    DUF3585; Protein of unknown function (DUF3585)
    cl09930
    Location:260 → 304
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

  2. NM_001351087.2 → NP_001338016.1  EH domain-binding protein 1-like protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AP001362
    Conserved Domains (3) summary
    pfam00307
    Location:280 → 379
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12 → 164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:605 → 741
    DUF3585; Protein of unknown function (DUF3585)

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    65576053..65592650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017468.2 → XP_016872957.1  EH domain-binding protein 1-like protein 1 isoform X2

  2. XM_047426704.1 → XP_047282660.1  EH domain-binding protein 1-like protein 1 isoform X3

  3. XM_017017467.2 → XP_016872956.1  EH domain-binding protein 1-like protein 1 isoform X2

  4. XM_006718486.4 → XP_006718549.1  EH domain-binding protein 1-like protein 1 isoform X1

    Conserved Domains (4) summary
    pfam00307
    Location:1050 → 1149
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12 → 164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:1371 → 1511
    DUF3585; Protein of unknown function (DUF3585)
    cl09930
    Location:272 → 316
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

  5. XM_005273867.4 → XP_005273924.1  EH domain-binding protein 1-like protein 1 isoform X5

    Conserved Domains (4) summary
    pfam00307
    Location:508 → 607
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12 → 164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:829 → 969
    DUF3585; Protein of unknown function (DUF3585)
    cl09930
    Location:272 → 316
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

  6. XM_005273868.4 → XP_005273925.1  EH domain-binding protein 1-like protein 1 isoform X6

    Conserved Domains (4) summary
    pfam00307
    Location:450 → 549
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12 → 164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:771 → 911
    DUF3585; Protein of unknown function (DUF3585)
    cl09930
    Location:272 → 316
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

  7. XM_005273869.4 → XP_005273926.1  EH domain-binding protein 1-like protein 1 isoform X8

    Conserved Domains (3) summary
    pfam00307
    Location:350 → 449
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12 → 164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:671 → 811
    DUF3585; Protein of unknown function (DUF3585)

  8. XM_005273870.4 → XP_005273927.1  EH domain-binding protein 1-like protein 1 isoform X9

    Conserved Domains (3) summary
    pfam00307
    Location:292 → 391
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12 → 164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:613 → 753
    DUF3585; Protein of unknown function (DUF3585)

  9. XM_047426705.1 → XP_047282661.1  EH domain-binding protein 1-like protein 1 isoform X7

  10. XM_006718487.5 → XP_006718550.1  EH domain-binding protein 1-like protein 1 isoform X4

    Conserved Domains (2) summary
    pfam10358
    Location:12 → 164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    cl09930
    Location:272 → 316
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

  11. XM_024448416.2 → XP_024304184.1  EH domain-binding protein 1-like protein 1 isoform X11

    Conserved Domains (2) summary
    pfam10358
    Location:12 → 164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    cl26386
    Location:199 → 405
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

  12. XM_011544886.4 → XP_011543188.1  EH domain-binding protein 1-like protein 1 isoform X10

    Conserved Domains (2) summary
    pfam00307
    Location:22 → 121
    CH; Calponin homology (CH) domain
    pfam12130
    Location:343 → 483
    DUF3585; Protein of unknown function (DUF3585)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65570286..65586883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368288.1 → XP_054224263.1  EH domain-binding protein 1-like protein 1 isoform X2

  2. XM_054368289.1 → XP_054224264.1  EH domain-binding protein 1-like protein 1 isoform X3

  3. XM_054368287.1 → XP_054224262.1  EH domain-binding protein 1-like protein 1 isoform X2

  4. XM_054368286.1 → XP_054224261.1  EH domain-binding protein 1-like protein 1 isoform X1

  5. XM_054368291.1 → XP_054224266.1  EH domain-binding protein 1-like protein 1 isoform X5

  6. XM_054368292.1 → XP_054224267.1  EH domain-binding protein 1-like protein 1 isoform X6

  7. XM_054368294.1 → XP_054224269.1  EH domain-binding protein 1-like protein 1 isoform X8

  8. XM_054368295.1 → XP_054224270.1  EH domain-binding protein 1-like protein 1 isoform X9

  9. XM_054368293.1 → XP_054224268.1  EH domain-binding protein 1-like protein 1 isoform X7

  10. XM_054368290.1 → XP_054224265.1  EH domain-binding protein 1-like protein 1 isoform X4

  11. XM_054368297.1 → XP_054224272.1  EH domain-binding protein 1-like protein 1 isoform X11

  12. XM_054368296.1 → XP_054224271.1  EH domain-binding protein 1-like protein 1 isoform X10

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N3D4.2 GenPept UniProtKB/Swiss-Prot:Q8N3D4

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