• Gene id: 79929

Gene Summary

• Gene Symbol: MAP6D1   Gene   UCSC   Ensembl
• Aliases: MAPO6D1, SL21
• Gene name: MAP6 domain containing 1
• Alternate names: MAP6 domain-containing protein 1, 21 kDa STOP-like protein, STOP-Like protein 21 kD,
• Gene location: 3q27.1 (500700: 316736)     Exons: 10     NC_000018.10
• Gene summary(Entrez): This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that bind
• OMIM: 610593

Protein Summary

• Protein general information: Q9H9H5  
  • Name: MAP6 domain containing protein 1 (21 kDa STOP like protein) (SL21)
  • Length: 199  
  • Mass: 21005
• Sequence:

  MAWPCISRLCCLARRWNQLDRSDVAVPLTLHGYSDLDSEEPGTGGAASRRGQPPAGARDSGRDVPLTQYQRDFGL
  WTTPAGPKDPPPGRGPGAGGRRGKSSAQSSAPPAPGARGVYVLPIGDADAAAAVTTSYRQEFQAWTGVKPSRSTK
  TKPARVITTHTSGWDSSPGAGFQVPEVRKKFTPNPSAIFQASAPRILNV

• Structural information:
  • Interpro: IPR007882  
  • STRING: ENSP00000314560
• Other Databases: GeneCards:  MAP6D1  Malacards:  MAP6D1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030705	cytoskeleton-dependent intracellular transport	IBA	biological process
GO:0008017	microtubule binding	IBA	molecular function
GO:0005801	cis-Golgi network	IBA	cellular component
GO:0005798	Golgi-associated vesicle	IBA	cellular component
GO:0070507	regulation of microtubule cytoskeleton organization	IBA	biological process
GO:0005874	microtubule	IBA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0008017	microtubule binding	IEA	molecular function
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0005874	microtubule	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005798	Golgi-associated vesicle	IEA	cellular component
GO:0005801	cis-Golgi network	IEA	cellular component
GO:0008017	microtubule binding	IEA	molecular function
GO:0018009	N-terminal peptidyl-L-cysteine N-palmitoylation	IEA	biological process
GO:0007026	negative regulation of microtubule depolymerization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray