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PLEKHB1 pleckstrin homology domain containing B1 [ Homo sapiens (human) ]

Gene ID: 58473, updated on 23-Nov-2021

Summary

Official Symbol
PLEKHB1provided by HGNC
Official Full Name
pleckstrin homology domain containing B1provided by HGNC
Primary source
HGNC:HGNC:19079
See related
Ensembl:ENSG00000021300 MIM:607651
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
Also known as
KPL1; PHR1; PHRET1
Expression
Biased expression in brain (RPKM 91.0), thyroid (RPKM 7.0) and 2 other tissues See more
Orthologs
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Genomic context

See PLEKHB1 in Genome Data Viewer
Location:
11q13.4
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (73646581..73662819)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73357626..73373864)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 168 member A Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 38 Neighboring gene MIA SH3 domain ER export factor 2 pseudogene Neighboring gene musashi RNA binding protein 1 pseudogene Neighboring gene RAB6A, member RAS oncogene family Neighboring gene CRISPRi-validated cis-regulatory element chr11.4166

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in phototransduction NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pleckstrin homology domain-containing family B member 1
Names
PH domain containing, retinal 1
PH domain-containing family B member 1
PH domain-containing protein in retina 1
evectin-1
pleckstrin homology domain containing, family B (evectins) member 1
pleckstrin homology domain retinal protein 1

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_001130033.2NP_001123505.1  pleckstrin homology domain-containing family B member 1 isoform c

    See identical proteins and their annotated locations for NP_001123505.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon, compared to variant 1. It encodes isoform c, which is shorter than isoform a.
    Source sequence(s)
    AP000860, AP002993
    Consensus CDS
    CCDS44673.1
    UniProtKB/Swiss-Prot
    Q9UF11
    UniProtKB/TrEMBL
    A0A024R5J2
    Related
    ENSP00000381505.4, ENST00000398492.8
    Conserved Domains (2) summary
    cd13265
    Location:20127
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:22126
    PH; PH domain
  2. NM_001130034.2NP_001123506.1  pleckstrin homology domain-containing family B member 1 isoform b

    See identical proteins and their annotated locations for NP_001123506.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the 5' CDS and 5' UTR resulting in use of a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AP000860, AP002993
    Consensus CDS
    CCDS44674.1
    UniProtKB/Swiss-Prot
    Q9UF11
    Related
    ENSP00000381507.4, ENST00000398494.8
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:3107
    PH; PH domain
  3. NM_001130035.2NP_001123507.1  pleckstrin homology domain-containing family B member 1 isoform d

    See identical proteins and their annotated locations for NP_001123507.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon and includes an alternate exon in the 5' CDS and 5' UTR resulting in use of a downstream start codon, compared to variant 1. It encodes isoform d, which shorter than isoform a.
    Source sequence(s)
    AP000860, AP002993
    Consensus CDS
    CCDS44675.1
    UniProtKB/Swiss-Prot
    Q9UF11
    UniProtKB/TrEMBL
    A0A024R5H7
    Related
    ENSP00000227214.6, ENST00000227214.10
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:3107
    PH; PH domain
  4. NM_001130036.2NP_001123508.1  pleckstrin homology domain-containing family B member 1 isoform d

    See identical proteins and their annotated locations for NP_001123508.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an in-frame exon and includes an alternate exon in the 5' CDS and 5' UTR resulting in use of a downstream start codon, compared to variant 1. It encodes isoform d, which shorter than isoform a.
    Source sequence(s)
    AP000860, AP002993
    Consensus CDS
    CCDS44675.1
    UniProtKB/Swiss-Prot
    Q9UF11
    UniProtKB/TrEMBL
    A0A024R5H7
    Related
    ENSP00000442616.1, ENST00000535129.5
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:3107
    PH; PH domain
  5. NM_021200.3NP_067023.1  pleckstrin homology domain-containing family B member 1 isoform a

    See identical proteins and their annotated locations for NP_067023.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AP000860, AP002993
    Consensus CDS
    CCDS44672.1
    UniProtKB/Swiss-Prot
    Q9UF11
    UniProtKB/TrEMBL
    A0A024R5H9
    Related
    ENSP00000346127.5, ENST00000354190.10
    Conserved Domains (2) summary
    cd13265
    Location:20127
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:22126
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    73646581..73662819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545192.2XP_011543494.1  pleckstrin homology domain-containing family B member 1 isoform X1

    See identical proteins and their annotated locations for XP_011543494.1

    UniProtKB/Swiss-Prot
    Q9UF11
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:3107
    PH; PH domain
  2. XM_011545193.2XP_011543495.1  pleckstrin homology domain-containing family B member 1 isoform X2

    See identical proteins and their annotated locations for XP_011543495.1

    UniProtKB/Swiss-Prot
    Q9UF11
    UniProtKB/TrEMBL
    A0A024R5H7
    Related
    ENSP00000442136.1, ENST00000541597.5
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:3107
    PH; PH domain
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