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    HAUS7 HAUS augmin like complex subunit 7 [ Homo sapiens (human) ]

    Gene ID: 55559, updated on 17-Jun-2024

    Summary

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    Official Symbol
    HAUS7provided by HGNC
    Official Full Name
    HAUS augmin like complex subunit 7provided by HGNC
    Primary source
    HGNC:HGNC:32979
    See related
    Ensembl:ENSG00000213397 MIM:300540; AllianceGenome:HGNC:32979
    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
    UIP1; UCHL5IP
    Summary
    This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
    Expression
    Ubiquitous expression in skin (RPKM 11.4), spleen (RPKM 5.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HAUS7 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153447668..153495465, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151721251..151769038, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152713126..152760923, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21062 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:152677238-152677448 Neighboring gene PNMA family member 6E Neighboring gene ZFP92 zinc finger protein Neighboring gene ReSE screen-validated silencer GRCh37_chrX:152726424-152726582 Neighboring gene three prime repair exonuclease 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30034 Neighboring gene Sharpr-MPRA regulatory region 9358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152741433-152741972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152742168-152742668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152742669-152743169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152753877-152754691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152756808-152757380 Neighboring gene extracellular matrix protein X-linked, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30036 Neighboring gene biglycan Neighboring gene ATPase plasma membrane Ca2+ transporting 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152809330-152810182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152825847-152826631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152831014-152831626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21064 Neighboring gene cyclin Q

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A novel mutation in HAUS7 results in severe oligozoospermia in two brothers. Li L, et al. Gene, 2018 Jan 10. PMID 29017965
    2. Expressed STSs and transcription of human Xq28. Esposito T, et al. Gene, 1997 Mar 18. PMID 9099879
    3. Identification of two proteins, S14 and UIP1, that interact with UCH37. Li T, et al. FEBS Lett, 2001 Jan 19. PMID 11163772
    4. Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes. Mazur DJ, et al. J Biol Chem, 2001 May 4. PMID 11278605
    5. Human-specific nonsense mutations identified by genome sequence comparisons. Hahn Y, et al. Hum Genet, 2006 Mar. PMID 16395595

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HAUS7 mutation may be associated with chromosome misalignment, resulting in severe oligozoospermia.
      Title: A novel mutation in HAUS7 results in severe oligozoospermia in two brothers.
    2. Discusses transcript evidence for TREX1 and TREX2, as well as readthrough transcripts with upstream loci ATRIP and HAUS7.
      Title: Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: TREX2

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule minus-end binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables thioesterase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in centrosome cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centrosome cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in centrosome cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of microtubule nucleation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spindle assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of HAUS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of HAUS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of HAUS complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitotic spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    HAUS augmin-like complex subunit 7
    Names
    26S proteasome-associated UCH37-interacting protein 1
    X-linked protein STS1769

    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.

    Genomic

    1. NG_012688.3 RefSeqGene

      Range
      29895..52861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001385481.1 → NP_001372410.1  HAUS augmin-like complex subunit 7 isoform 2

      Status: REVIEWED

      Source sequence(s)
      U82695

    2. NM_001385482.1 → NP_001372411.1  HAUS augmin-like complex subunit 7 isoform 1

      Status: REVIEWED

      Source sequence(s)
      U82695
      Consensus CDS
      CCDS35438.2
      UniProtKB/Swiss-Prot
      B4DUH6, D3DWT9, Q96HS8, Q99871, Q9NP54, Q9UFH9
      Related
      ENSP00000359230.6, ENST00000370211.10

    3. NM_001385483.1 → NP_001372412.1  HAUS augmin-like complex subunit 7 isoform 2

      Status: REVIEWED

      Source sequence(s)
      U82695

    RNA

    1. NR_073156.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains multiple differences, compared to variant 1, including use of an alternate upstream promoter. This variant is represented as non-coding because the use of the translational start codon used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK125219, BC008141, DB248557, U82695

    2. NR_169630.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      U82695

    3. NR_169631.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      U82695

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      153447668..153495465 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      151721251..151769038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017518.7: Suppressed sequence

      Description
      NM_017518.7: This RefSeq was removed because currently there is support for the transcript but not for the protein.

    2. NM_207106.2: Suppressed sequence

      Description
      NM_207106.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    3. NM_207107.2: Suppressed sequence

      Description
      NM_207107.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99871.4 GenPept UniProtKB/Swiss-Prot:Q99871

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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