1. Gene
  2. KLHDC8A - kelch domain containing 8A Gene

KLHDC8A - kelch domain containing 8A Gene

Homo sapiens
Gene ID: 55220 | Gene type: protein coding

About KLHDC8A

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:205,336,061-205,357,039 (from NCBI)

This gene has 12 transcripts (splice variants), 126 orthologues and 54 paralogues. Biased expression in ovary (RPKM 76.6) and adrenal (RPKM 7.3).

Summary

This gene encodes a kelch domain-containing protein which is upregulated in Cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

KLHDC8A Products(4)

mRNA Protein Name
NM_001271863.2 NP_001258792.1 kelch domain-containing protein 8A
NM_001271864.2 NP_001258793.1 kelch domain-containing protein 8A
NM_001271865.2 NP_001258794.1 kelch domain-containing protein 8A
NM_018203.3 NP_060673.1 kelch domain-containing protein 8A

KLHDC8A Protein Structure

Kelch_1

Kelch_1: Kelch motif (20 - 66)

Kelch_1

Kelch_1: Kelch motif (68 - 111)

Kelch_6

Kelch_6: Kelch motif (165 - 212)

Kelch_6

Kelch_6: Kelch motif (269 - 316)

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  • 350 a.a.
Protein Preferred Names Protein Names

kelch domain-containing protein 8A

S-delta-E1

Related Diseases

Diseases Alias
Astrocytoma, Idh-Mutant, Grade 4

Idh-Mutant Glioblastoma

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
Mus musculus KLHDC8A MGD MGI:2442630
Macaca mulatta KLHDC8A VGNC VGNC:74124
Felis catus KLHDC8A VGNC VGNC:63139
Bos taurus KLHDC8A VGNC VGNC:30639
Canis familiaris KLHDC8A VGNC VGNC:42443
Rattus norvegicus KLHDC8A RGD RGD:1305132