HAUS8 HAUS augmin like complex subunit 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HAUS8provided by HGNC
Official Full Name: HAUS augmin like complex subunit 8provided by HGNC
Primary source: HGNC:HGNC:30532
See related: Ensembl:ENSG00000131351 MIM:613434; AllianceGenome:HGNC:30532
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: DGT4; HICE1; NY-SAR-48
Summary: HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]
Expression: Broad expression in testis (RPKM 8.8), lymph node (RPKM 7.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (17049729..17075533, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (17184651..17210456, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (17160539..17186343, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

these results demonstrated that HAUS8 may function as a positive regulator of RLRVISA dependent antiviral signaling by targeting the VISA complex, providing a novel regulatory mechanism of antiviral responses
Title: HAUS8 regulates RLR‑VISA antiviral signaling positively by targeting VISA.
Hice1 and hDgt6 are core components of distinct augmin sub-complexes.
Title: Reconstitution of the augmin complex provides insights into its architecture and function.
Aurora-A modulates the microtubule binding activity of Hice1 in a spatiotemporal manner for proper bipolar spindle assembly.
Title: Aurora-A phosphorylates Augmin complex component Hice1 protein at an N-terminal serine/threonine cluster to modulate its microtubule binding activity during spindle assembly.
Results suggest that Hec1, through cooperation with Hice1, contributes to centrosome-directed microtubule growth to facilitate establishing a proper mitotic spindle.
Title: Hec1 contributes to mitotic centrosomal microtubule growth for proper spindle assembly through interaction with Hice1.
Hice1 is a novel microtubule-associated protein important for maintaining spindle integrity and chromosomal stability, in part by virtue of its ability to bind, bundle, and stabilize microtubules.
Title: Hice1, a novel microtubule-associated protein required for maintenance of spindle integrity and chromosomal stability in human cells.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein 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	IDA Inferred from Direct Assay more info	PubMed
part_of HAUS complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitotic spindle microtubule	IDA Inferred from Direct Assay more info	PubMed
is_active_in nuclear microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle pole	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: HAUS augmin-like complex subunit 8

Names: HEC1/NDC80 interacting, centrosome associated 1; HEC1/NDC80-interacting centrosome-associated protein 1; Hec1-interacting and centrosome-associated 1; sarcoma antigen NY-SAR-48

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.

mRNA and Protein(s)

NM_001011699.1 → NP_001011699.1 HAUS augmin-like complex subunit 8 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

BC040564, BI829542, BM563712, BX111116

Consensus CDS

CCDS46009.1

UniProtKB/Swiss-Prot

Q9BT25

Related

ENSP00000395298.1, ENST00000448593.6
NM_033417.2 → NP_219485.1 HAUS augmin-like complex subunit 8 isoform a

See identical proteins and their annotated locations for NP_219485.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC020908, BC040564, BI829542, BX111116

Consensus CDS

CCDS32948.1

UniProtKB/Swiss-Prot

B4DJA7, C9JBZ4, Q49AC4, Q86WF0, Q96FX3, Q9BT25

Related

ENSP00000253669.4, ENST00000253669.10