• Gene id: 348094

Gene Summary

• Gene Symbol: ANKDD1A   Gene   UCSC   Ensembl
• Gene name: ankyrin repeat and death domain containing 1A
• Alternate names: ankyrin repeat and death domain-containing protein 1A,
• Gene location: 15q22.31 (31593023: 31588894)     Exons: 6     NC_000006.12

Protein Summary

• Protein general information: Q495B1  
  • Name: Ankyrin repeat and death domain containing protein 1A
  • Length: 522  
  • Mass: 57550
• Sequence:

  MQEELAWETDGLLPLERQLHEAARQNNVGRMQELIGRRVNTRARNHVGRVALHWAAGAGHEQAVRLLLEHEAAVD
  EEDAVGALTEARLCFGMNALLLSAWFGHLRILQILVNSGAKIHCESKDGLTLLHCAAQKGHVPVLAFIMEDLEDV
  ALDHVDKLGRTAFHRAAEHGQLDALDFLVGSGCDHNVKDKEGNTALHLAAGRGHMAVLQRLVDIGLDLEEQNAEG
  LTALHSAAGGSHPDCVQLLLRAGSTVNALTQKNLSCLHYAALSGSEDVSRVLIHAGGCANVVDHQGASPLHLAVR
  HNFPALVRLLINSDSDVNAVDNRQQTPLHLAAEHAWQDIADMLLIAGVDLNLRDKQGKTALAVAVRSNHVSLVDM
  IIKADRFYRWEKDHPSDPSGKSLSFKQDHRQETQQLRSVLWRLASRYLQPREWKKLAYSWEFTEAHVDAIEQQWT
  GTRSYQEHGHRMLLIWLHGVATAGENPSKALFEGLVAIGRRDLAGWSTMARSQLTATSASRVQMILVPQPPE

• Structural information:
  • Protein Domains: (413..50-)
    (/note="Death-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00064"-)
  • Interpro: IPR039194  IPR002110  IPR020683  IPR036770  IPR011029   IPR000488  
  • Prosite: PS50297 PS50088 PS50017
  • STRING: ENSP00000325895
• Other Databases: GeneCards:  ANKDD1A  Malacards:  ANKDD1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq