• Gene id: 22950

Gene Summary

• Gene Symbol: SLC4A1AP   Gene   UCSC   Ensembl
• Aliases: HLC3
• Gene name: solute carrier family 4 member 1 adaptor protein
• Alternate names: kanadaptin, HLC-3, human lung cancer oncogene 3 protein, kidney anion exchanger adapter protein, kidney anion exchanger adaptor protein, lung cancer oncogene 3, solute carrier family 4 (anion exchanger), member 1, adapter protein, solute carrier family 4 (anion ,
• Gene location: 2p23.3 (27663470: 27694979)     Exons: 14     NC_000002.12
• OMIM: 602655

Protein Summary

• Protein general information: Q9BWU0  
  • Name: Kanadaptin (Human lung cancer oncogene 3 protein) (HLC 3) (Kidney anion exchanger adapter protein) (Solute carrier family 4 anion exchanger member 1 adapter protein)
  • Length: 796  
  • Mass: 88814
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MLAPLRNAPGREGATSPSPPTDATGSLGEWDVDRNVKTEGWVSKERISKLHRLRMADILSQSETLASQDLSGDFK
  KPALPVSPAARSKAPASSSSNPEEVQKEGPTALQDSNSGEPDIPPPQPDCGDFRSLQEEQSRPPTAVSSPGGPAR
  APPYQEPPWGGPATAPYSLETLKGGTILGTRSLKGTSYCLFGRLSGCDVCLEHPSVSRYHAVLQHRASGPDGECD
  SNGPGFYLYDLGSTHGTFLNKTRIPPRTYCRVHVGHVVRFGGSTRLFILQGPEEDREAESELTVTQLKELRKQQQ
  ILLEKKMLGEDSDEEEEMDTSERKINAGSQDDEMGCTWGMGEDAVEDDAEENPIVLEFQQEREAFYIKDPKKALQ
  GFFDREGEELEYEFDEQGHSTWLCRVRLPVDDSTGKQLVAEAIHSGKKKEAMIQCSLEACRILDTLGLLRQEAVS
  RKRKAKNWEDEDFYDSDDDTFLDRTGLIEKKRLNRMKKAGKIDEKPETFESLVAKLNDAERELSEISERLKASSQ
  VLSESPSQDSLDAFMSEMKSGSTLDGVSRKKLHLRTFELRKEQQRLKGLIKIVKPAEIPELKKTETQTTGAENKA
  KKLTLPLFGAMKGGSKFKLKTGTVGKLPPKRPELPPTLMRMKDEPEVEEEEEEEEEEEKEKEEHEKKKLEDGSLS
  RPQPEIEPEAAVQEMRPPTDLTHFKETQTHENMSQLSEEEQNKDYQDCSKTTSLCAGPSASKNEYEKSRGELKKK
  KTPGPGKLPPTLSSKYPEDDPDYCVWVPPEGQSGDGRTHLNDKYGY

• Structural information:
  • Protein Domains: (189..24-)
    (/note="FHA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00086"-)
  • Interpro: IPR000253  IPR008984  
  • Prosite: PS50006
  • CDD: cd00060
  • PDB: 4H87
  • PDBsum: 4H87
  • STRING: ENSP00000479964
• Other Databases: GeneCards:  SLC4A1AP  Malacards:  SLC4A1AP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003729	mRNA binding	IBA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray