1. Gene
  2. HAUS6 - HAUS augmin like complex subunit 6 Gene

HAUS6 - HAUS augmin like complex subunit 6 Gene

Homo sapiens

Also known as Dgt6; FAM29A

Gene ID: 54801 | Gene type: protein coding

About HAUS6

Cytogenetic location: 9p22.1 Genomic coordinates (GRCh38): 9:19,053,141-19,102,904 (from NCBI)

This gene has 3 transcripts (splice variants) and 201 orthologues. Broad expression in testis (RPKM 9.5), lymph node (RPKM 4.7) and 24 other tissues.

Summary

The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

HAUS6 Products(2)

mRNA Protein Name
NM_001270890.2 NP_001257819.1 HAUS augmin-like complex subunit 6 isoform 2
NM_017645.5 NP_060115.3 HAUS augmin-like complex subunit 6 isoform 1

HAUS6 Protein Structure

HAUS6_N

HAUS6_N: HAUS augmin-like complex subunit 6 N-terminus (13 - 241)

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  • 955 a.a.
Protein Preferred Names Protein Names

HAUS augmin-like complex subunit 6

dim gamma-tubulin homolog

Related Diseases

Diseases Alias
Immunodeficiency 30

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12rb1 Deficiency

IMD30

Il12rb1 Deficiency

Mendelian Susceptibility To Interleukin 12 Receptor Beta 1 Deficiency

Msmd Due To Complete Il12rb1 Deficiency

Msmd Due To Complete Interleukin 12 Receptor Beta 1 Deficiency

Il-12râ1 Deficiency

Mendelian Susceptibility To Mycobacterial Infections Due To Il12 Deficiency

Immunodeficiency, Type 30

Noonan Syndrome 2

NS2

Noonan Syndrome, Autosomal Recessive

Noonan Syndrome 2, Autosomal Recessive

Noonan Syndrome, Type 2

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris HAUS6 VGNC VGNC:41606
Bos taurus HAUS6 VGNC VGNC:29761
Felis catus HAUS6 VGNC VGNC:62758
Mus musculus HAUS6 MGD MGI:1923389
Macaca mulatta HAUS6 VGNC VGNC:73237