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

Gene ID: 55559, updated on 7-Apr-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
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Genomic context

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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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