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JOSD1 Josephin domain containing 1 [ Homo sapiens (human) ]

Gene ID: 9929, updated on 1-Jun-2020

Summary

Official Symbol
JOSD1provided by HGNC
Official Full Name
Josephin domain containing 1provided by HGNC
Primary source
HGNC:HGNC:28953
See related
Ensembl:ENSG00000100221 MIM:615323
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
dJ508I15.2
Expression
Ubiquitous expression in bone marrow (RPKM 27.2), gall bladder (RPKM 19.0) and 25 other tissues See more
Orthologs

Genomic context

See JOSD1 in Genome Data Viewer
Location:
22q13.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (38683916..38701403, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39081548..39097423, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 227 member A Neighboring gene chibby family member 1, beta catenin antagonist Neighboring gene translocase of outer mitochondrial membrane 22 Neighboring gene GTP binding protein 1 Neighboring gene peroxiredoxin 3 pseudogene 1 Neighboring gene Sad1 and UNC84 domain containing 2

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0063

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
josephin-1
Names
josephin domain-containing 1
josephin domain-containing protein 1
NP_001347164.1
NP_001347165.1
NP_055691.1
XP_005261935.1

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_001360235.2NP_001347164.1  josephin-1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a different 5' non-coding exon compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    BC015026, CA449010, DB064998, HY026936
    Consensus CDS
    CCDS13976.1
    Conserved Domains (1) summary
    pfam02099
    Location:35173
    Josephin; Josephin
  2. NM_001360236.2NP_001347165.1  josephin-1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains a different 5' non-coding exon compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AL021707, BC015026, CA449010, DB152274, HY026936
    Consensus CDS
    CCDS13976.1
    Conserved Domains (1) summary
    pfam02099
    Location:35173
    Josephin; Josephin
  3. NM_014876.7NP_055691.1  josephin-1

    See identical proteins and their annotated locations for NP_055691.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    BC015026, CA449010, HY026936
    Consensus CDS
    CCDS13976.1
    UniProtKB/Swiss-Prot
    Q15040
    UniProtKB/TrEMBL
    A0A024R1P5
    Related
    ENSP00000216039.5, ENST00000216039.9
    Conserved Domains (1) summary
    pfam02099
    Location:35173
    Josephin; Josephin

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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    38683916..38701403 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261878.3XP_005261935.1  josephin-1 isoform X1

    See identical proteins and their annotated locations for XP_005261935.1

    UniProtKB/Swiss-Prot
    Q15040
    UniProtKB/TrEMBL
    A0A024R1P5
    Conserved Domains (1) summary
    pfam02099
    Location:35173
    Josephin; Josephin
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