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BEND5 BEN domain containing 5 [ Homo sapiens (human) ]

Gene ID: 79656, updated on 29-Mar-2020

Summary

Official Symbol
BEND5provided by HGNC
Official Full Name
BEN domain containing 5provided by HGNC
Primary source
HGNC:HGNC:25668
See related
Ensembl:ENSG00000162373
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
C1orf165
Expression
Ubiquitous expression in ovary (RPKM 1.6), brain (RPKM 1.3) and 23 other tissues See more
Orthologs

Genomic context

See BEND5 in Genome Data Viewer
Location:
1p33
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (48727519..48777489, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (49193538..49242547, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 6 Neighboring gene RNA, U4 small nuclear 61, pseudogene Neighboring gene ribosomal protein L21 pseudogene 25 Neighboring gene ATP/GTP binding protein like 4 Neighboring gene uncharacterized LOC105378706 Neighboring gene AGBL4 antisense RNA 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11588, FLJ39254

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
BEN domain-containing protein 5

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_053063.1 RefSeqGene

    Range
    6713..56085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001302082.1NP_001289011.1  BEN domain-containing protein 5 isoform 2

    See identical proteins and their annotated locations for NP_001289011.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site at an internal exon, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
    Source sequence(s)
    AC097062, AK021650, BC007932, BX096297, CD579580, CD672851
    UniProtKB/Swiss-Prot
    Q7L4P6
    Conserved Domains (2) summary
    pfam10523
    Location:155232
    BEN; BEN domain
    pfam17380
    Location:16106
    DUF5401; Family of unknown function (DUF5401)
  2. NM_001349793.1NP_001336722.1  BEN domain-containing protein 5 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variants 2 and 4, encodes isoform 2.
    Source sequence(s)
    AC097062, BX096297, CD672851, KU178778
    Conserved Domains (2) summary
    pfam10523
    Location:155232
    BEN; BEN domain
    pfam17380
    Location:16106
    DUF5401; Family of unknown function (DUF5401)
  3. NM_001349794.1NP_001336723.1  BEN domain-containing protein 5 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform 2.
    Source sequence(s)
    AC097062
    Conserved Domains (2) summary
    pfam10523
    Location:155232
    BEN; BEN domain
    pfam17380
    Location:16106
    DUF5401; Family of unknown function (DUF5401)
  4. NM_001349795.1NP_001336724.1  BEN domain-containing protein 5 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) encodes isoform 3.
    Source sequence(s)
    AC097062
    Conserved Domains (2) summary
    pfam05667
    Location:89148
    DUF812; Protein of unknown function (DUF812)
    pfam10523
    Location:239316
    BEN; BEN domain
  5. NM_024603.4NP_078879.2  BEN domain-containing protein 5 isoform 1

    See identical proteins and their annotated locations for NP_078879.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC097062, BC007932, BX096297, CD579580
    Consensus CDS
    CCDS552.2
    UniProtKB/Swiss-Prot
    Q7L4P6
    UniProtKB/TrEMBL
    A0A0S2Z5N0
    Related
    ENSP00000360899.3, ENST00000371833.4
    Conserved Domains (3) summary
    TIGR02168
    Location:70277
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10523
    Location:324401
    BEN; BEN domain
    pfam17380
    Location:185275
    DUF5401; Family of unknown function (DUF5401)

RNA

  1. NR_146232.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC097062

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    48727519..48777489 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542142.2XP_011540444.1  BEN domain-containing protein 5 isoform X4

    See identical proteins and their annotated locations for XP_011540444.1

    UniProtKB/Swiss-Prot
    Q7L4P6
    Conserved Domains (2) summary
    pfam10523
    Location:155232
    BEN; BEN domain
    pfam17380
    Location:16106
    DUF5401; Family of unknown function (DUF5401)
  2. XM_017002331.1XP_016857820.1  BEN domain-containing protein 5 isoform X1

    Conserved Domains (2) summary
    pfam02646
    Location:141186
    RmuC; RmuC family
    pfam10523
    Location:269346
    BEN; BEN domain
  3. XM_011542141.3XP_011540443.1  BEN domain-containing protein 5 isoform X2

    See identical proteins and their annotated locations for XP_011540443.1

    Conserved Domains (2) summary
    pfam05667
    Location:89148
    DUF812; Protein of unknown function (DUF812)
    pfam10523
    Location:239316
    BEN; BEN domain
  4. XM_017002333.2XP_016857822.1  BEN domain-containing protein 5 isoform X3

RNA

  1. XR_001737408.2 RNA Sequence

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