• Gene id: 22885

Gene Summary

• Gene Symbol: ABLIM3   Gene   UCSC   Ensembl
• Aliases: HMFN1661
• Gene name: actin binding LIM protein family member 3
• Alternate names: actin-binding LIM protein 3, abLIM-3,
• Gene location: 5q32 (149141446: 149260541)     Exons: 25     NC_000005.10
• Gene summary(Entrez): This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of
• OMIM: 610008

Protein Summary

• Protein general information: O94929  
  • Name: Actin binding LIM protein 3 (abLIM 3) (Actin binding LIM protein family member 3)
  • Length: 683  
  • Mass: 77802
  • Tissue specificity: Expressed predominantly in heart and brain. {ECO
• Sequence:

  MNTSIPYQQNPYNPRGSSNVIQCYRCGDTCKGEVVRVHNNHFHIRCFTCQVCGCGLAQSGFFFKNQEYICTQDYQ
  QLYGTRCDSCRDFITGEVISALGRTYHPKCFVCSLCRKPFPIGDKVTFSGKECVCQTCSQSMASSKPIKIRGPSH
  CAGCKEEIKHGQSLLALDKQWHVSCFKCQTCSVILTGEYISKDGVPYCESDYHAQFGIKCETCDRYISGRVLEAG
  GKHYHPTCARCVRCHQMFTEGEEMYLTGSEVWHPICKQAARAEKKLKHRRTSETSISPPGSSIGSPNRVICAKVD
  NEILNYKDLAALPKVKSIYEVQRPDLISYEPHSRYMSDEMLERCGYGESLGTLSPYSQDIYENLDLRQRRASSPG
  YIDSPTYSRQGMSPTFSRSPHHYYRSGPESGRSSPYHSQLDVRSSTPTSYQAPKHFHIPAGDSNIYRKPPIYKRH
  GDLSTATKSKTSEDISQTSKYSPIYSPDPYYASESEYWTYHGSPKVPRARRFSSGGEEDDFDRSMHKLQSGIGRL
  ILKEEMKARSSSYADPWTPPRSSTSSREALHTAGYEMSLNGSPRSHYLADSDPLISKSASLPAYRRNGLHRTPSA
  DLFHYDSMNAVNWGMREYKIYPYELLLVTTRGRNRLPKDVDRTRLERHLSQEEFYQVFGMTISEFDRLALWKRNE
  LKKQARLF

• Structural information:
  • Protein Domains: (21..8-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (80..14-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (149..20-)
    3 (/note="LIM-zinc-binding)
    (/evidence="ECO:00-)
  • Interpro: IPR028449  IPR032402  IPR003128  IPR036886  IPR001781  
  • Prosite: PS51089 PS00478 PS50023
  • PDB: 1UJS 2DJ7
  • PDBsum: 1UJS 2DJ7
  • STRING: ENSP00000425394
• Other Databases: GeneCards:  ABLIM3  Malacards:  ABLIM3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903955	positive regulation of protein targeting to mitochondrion	HMP	biological process
GO:0001725	stress fiber	IBA	cellular component
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0030032	lamellipodium assembly	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0060271	cilium assembly	IBA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	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:0005515	protein binding	IPI	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045202	synapse	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
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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