Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    KIAA1033 KIAA1033 [ Homo sapiens (human) ]

    Gene ID: 23325, updated on 7-Feb-2016
    Official Symbol
    KIAA1033provided by HGNC
    Official Full Name
    KIAA1033provided by HGNC
    Primary source
    HGNC:HGNC:29174
    See related
    Ensembl:ENSG00000136051; HPRD:13829; MIM:615748; Vega:OTTHUMG00000169838
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SWIP; MRT43
    Summary
    This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
    Orthologs
    See KIAA1033 in Epigenomics, MapViewer
    Location:
    12q24.11
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (105107714..105169135)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (105501492..105562912)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene aldehyde dehydrogenase 1 family member L2 Neighboring gene uncharacterized LOC414300 Neighboring gene uncharacterized LOC105369953 Neighboring gene adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 Neighboring gene renal clear cell carcinoma-associated transcript 198

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endosomal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with BLOC-1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    WASH complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    WASH complex subunit 7
    Names
    strumpellin and WASH-interacting protein

    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_034157.1 RefSeqGene

      Range
      5001..66421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001293640.1NP_001280569.1  WASH complex subunit 7 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI753633, AK001657, AL137753, BC040936, BC143373
      Consensus CDS
      CCDS73514.1
      UniProtKB/TrEMBL
      A0A087X256
      UniProtKB/TrEMBL
      B7ZKT9
      UniProtKB/Swiss-Prot
      Q2M389
      Related
      ENSP00000484713, ENST00000620430
      Conserved Domains (3) summary
      pfam14744
      Location:606955
      WASH-7_mid; WASH complex subunit 7
      pfam14745
      Location:32604
      WASH-7_N; WASH complex subunit 7, N-terminal
      pfam14746
      Location:9671136
      WASH-7_C; WASH complex subunit 7, C-terminal
    2. NM_015275.2NP_056090.1  WASH complex subunit 7 isoform 2

      See identical proteins and their annotated locations for NP_056090.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB028956, AI753633, AK001657, AL137753, BC040936
      Consensus CDS
      CCDS41826.1
      UniProtKB/Swiss-Prot
      Q2M389
      Related
      ENSP00000328062, OTTHUMP00000242238, ENST00000332180, OTTHUMT00000406138
      Conserved Domains (3) summary
      pfam14744
      Location:605954
      WASH-7_mid; WASH complex subunit 7
      pfam14745
      Location:32603
      WASH-7_N; WASH complex subunit 7, N-terminal
      pfam14746
      Location:9661135
      WASH-7_C; WASH complex subunit 7, C-terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

      Range
      105107714..105169135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538073.1XP_011536375.1  

      Conserved Domains (3) summary
      pfam14744
      Location:605909
      WASH-7_mid; WASH complex subunit 7
      pfam14745
      Location:32603
      WASH-7_N; WASH complex subunit 7, N-terminal
      pfam14746
      Location:9211090
      WASH-7_C; WASH complex subunit 7, C-terminal
    2. XM_011538076.1XP_011536378.1  

      Conserved Domains (2) summary
      pfam14744
      Location:605920
      WASH-7_mid; WASH complex subunit 7
      pfam14745
      Location:32603
      WASH-7_N; WASH complex subunit 7, N-terminal
    3. XM_011538075.1XP_011536377.1  

      Conserved Domains (2) summary
      pfam14744
      Location:605920
      WASH-7_mid; WASH complex subunit 7
      pfam14745
      Location:32603
      WASH-7_N; WASH complex subunit 7, N-terminal
    4. XM_011538077.1XP_011536379.1  

      Conserved Domains (2) summary
      pfam14744
      Location:605843
      WASH-7_mid; WASH complex subunit 7
      pfam14745
      Location:32603
      WASH-7_N; WASH complex subunit 7, N-terminal
    5. XM_005268746.3XP_005268803.1  

      Conserved Domains (2) summary
      pfam14744
      Location:605838
      WASH-7_mid; WASH complex subunit 7
      pfam14745
      Location:32603
      WASH-7_N; WASH complex subunit 7, N-terminal
    6. XM_011538074.1XP_011536376.1  

      See identical proteins and their annotated locations for XP_011536376.1

      Conserved Domains (3) summary
      pfam14744
      Location:417766
      WASH-7_mid; WASH complex subunit 7
      pfam14745
      Location:1415
      WASH-7_N; WASH complex subunit 7, N-terminal
      pfam14746
      Location:778947
      WASH-7_C; WASH complex subunit 7, C-terminal

    RNA

    1. XR_944511.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      105467168..105528608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)