• Gene id: 3983

Gene Summary

• Gene Symbol: ABLIM1   Gene   UCSC   Ensembl
• Aliases: ABLIM, LIMAB1, LIMATIN, abLIM-1
• Gene name: actin binding LIM protein 1
• Alternate names: actin-binding LIM protein 1, actin-binding LIM protein family member 1, actin-binding double-zinc-finger protein,
• Gene location: 10q25.3 (112840945: 112774502)     Exons: 16     NC_000023.11
• Gene summary(Entrez): This gene encodes a LIM zinc-binding domain-containing protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [prov
• OMIM: 602330

Protein Summary

• Protein general information: O14639  
  • Name: Actin binding LIM protein 1 (abLIM 1) (Actin binding LIM protein family member 1) (Actin binding double zinc finger protein) (LIMAB1) (Limatin)
  • Length: 778  
  • Mass: 87688
  • Tissue specificity: Detected in liver, heart, skeletal muscle, brain and retina, where it is concentrated in the inner segment and in the outer plexiform layers. {ECO
• Sequence:

  MPAFLGLKCLGKLCSSEKSKVTSSERTSARGSNRKRLIVEDRRVSGTSFTAHRRATITHLLYLCPKDYCPRGRVC
  NSVDPFVAHPQDPHHPSEKPVIHCHKCGEPCKGEVLRVQTKHFHIKCFTCKVCGCDLAQGGFFIKNGEYLCTLDY
  QRMYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKETTFSSN
  CAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGAPYCEKDYQGLFGVKCEACHQFITGKVLEAG
  DKHYHPSCARCSRCNQMFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRPTRTSSESIYSRPGSSIPGSPGHTIYAK
  VDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRS
  TSQGSINSPVYSRHSYTPTTSRSPQHFHRPGNEPSSGRNSPLPYRPDSRPLTPTYAQAPKHFHVPDQGINIYRKP
  PIYKQHAALAAQSKSSEDIIKFSKFPAAQAPDPSETPKIETDHWPGPPSFAVVGPDMKRRSSGREEDDEELLRRR
  QLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQY
  NSYGDVSGGVRDYQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFR
  EIFGMSIQEFDRLPLWRRNDMKKKAKLF

• Structural information:
  • Protein Domains: (97..15-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (156..21-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (224..28-)
    3 (/note="LIM-zinc-binding)
    (/evidence="ECO:-)
  • Interpro: IPR028448  IPR032402  IPR003128  IPR036886  IPR001781  
  • Prosite: PS51089 PS00478 PS50023
  • STRING: ENSP00000277895
• Other Databases: GeneCards:  ABLIM1  Malacards:  ABLIM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001725	stress fiber	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0030032	lamellipodium assembly	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003779	actin binding	TAS	molecular function
GO:0007601	visual perception	TAS	biological process
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0030032	lamellipodium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray