2. Gene
  3. ANKHD1 - ankyrin repeat and KH domain containing 1 Gene

ANKHD1 - ankyrin repeat and KH domain containing 1 Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Homo sapiens

Also known as MASK; MASK1; VBARP; PP2500

Gene ID: 54882 | Gene type: protein coding

About ANKHD1

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:140,401,833-140,539,849 (from NCBI)

This gene has 21 transcripts (splice variants), 231 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 19.5), skin (RPKM 15.9) and 25 other tissues.

Summary

This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]

ANKHD1 Products(4)

mRNA Protein Name
NM_001197030.2 NP_001183959.1 ankyrin repeat and KH domain-containing protein 1 isoform 4
NM_017747.3 NP_060217.1 ankyrin repeat and KH domain-containing protein 1 isoform 1
NM_017978.3 NP_060448.1 ankyrin repeat and KH domain-containing protein 1 isoform 2
NM_024668.4 NP_078944.2 ankyrin repeat and KH domain-containing protein 1 isoform 3
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
14743216 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANKHD1 Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (204 - 267)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (268 - 334)

Ank_4

Ank_4: Ankyrin repeats (many copies) (338 - 392)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (409 - 500)

Ank

Ank: Ankyrin repeat (506 - 531)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (539 - 629)

Ank_4

Ank_4: Ankyrin repeats (many copies) (637 - 688)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1049 - 1116)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1122 - 1184)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1194 - 1285)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1296 - 1380)

KH_1

KH_1: KH domain (1698 - 1759)

  • 0
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  • 2000
  • 2400
  • 2542 a.a.
Protein Preferred Names Protein Names

ankyrin repeat and KH domain-containing protein 1

HIV-1 Vpr-binding ankyrin repeat protein

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00707 ANKHD1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus ANKHD1 MGD MGI:1921733
Rattus norvegicus ANKHD1 RGD RGD:4892133