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

Gene ID: 254102, updated on 21-Dec-2019

Summary

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
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
Expression
Ubiquitous expression in spleen (RPKM 34.0), appendix (RPKM 32.9) and 24 other tissues See more
Orthologs

Genomic context

See EHBP1L1 in Genome Data Viewer
Location:
11q13.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65576034..65592650)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65343509..65360121)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene zinc ribbon domain containing 2 Neighboring gene family with sequence similarity 89 member B Neighboring gene potassium two pore domain channel subfamily K member 7 Neighboring gene mitogen-activated protein kinase kinase kinase 11

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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35431, DKFZp762C186

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
endosome IEA
Inferred from Electronic Annotation
more info
 
filamentous actin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_001099409.3NP_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
    Related
    ENSP00000312671.4, ENST00000309295.9
    Conserved Domains (4) summary
    pfam00307
    Location:10381137
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:13591499
    DUF3585; Protein of unknown function (DUF3585)
    cl09930
    Location:260304
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
  2. NM_001351087.1NP_001338016.1  EH domain-binding protein 1-like protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AP001362
    Conserved Domains (3) summary
    pfam00307
    Location:280379
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:605741
    DUF3585; Protein of unknown function (DUF3585)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    65576034..65592650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273869.3XP_005273926.1  EH domain-binding protein 1-like protein 1 isoform X6

    Conserved Domains (3) summary
    pfam00307
    Location:350449
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:671811
    DUF3585; Protein of unknown function (DUF3585)
  2. XM_005273867.3XP_005273924.1  EH domain-binding protein 1-like protein 1 isoform X4

    Conserved Domains (4) summary
    pfam00307
    Location:508607
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:829969
    DUF3585; Protein of unknown function (DUF3585)
    cl09930
    Location:272316
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
  3. XM_005273870.3XP_005273927.1  EH domain-binding protein 1-like protein 1 isoform X7

    Conserved Domains (3) summary
    pfam00307
    Location:292391
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:613753
    DUF3585; Protein of unknown function (DUF3585)
  4. XM_005273868.3XP_005273925.1  EH domain-binding protein 1-like protein 1 isoform X5

    Conserved Domains (4) summary
    pfam00307
    Location:450549
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:771911
    DUF3585; Protein of unknown function (DUF3585)
    cl09930
    Location:272316
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
  5. XM_024448416.1XP_024304184.1  EH domain-binding protein 1-like protein 1 isoform X9

    Conserved Domains (2) summary
    pfam10358
    Location:12164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    cl26386
    Location:199405
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  6. XM_006718486.3XP_006718549.1  EH domain-binding protein 1-like protein 1 isoform X1

    Conserved Domains (4) summary
    pfam00307
    Location:10501149
    CH; Calponin homology (CH) domain
    pfam10358
    Location:12164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    pfam12130
    Location:13711511
    DUF3585; Protein of unknown function (DUF3585)
    cl09930
    Location:272316
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
  7. XM_006718487.4XP_006718550.1  EH domain-binding protein 1-like protein 1 isoform X3

    Conserved Domains (2) summary
    pfam10358
    Location:12164
    NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
    cl09930
    Location:272316
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
  8. XM_017017467.1XP_016872956.1  EH domain-binding protein 1-like protein 1 isoform X2

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

  10. XM_011544886.3XP_011543188.1  EH domain-binding protein 1-like protein 1 isoform X8

    Conserved Domains (2) summary
    pfam00307
    Location:22121
    CH; Calponin homology (CH) domain
    pfam12130
    Location:343483
    DUF3585; Protein of unknown function (DUF3585)
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