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. [provided by RefSeq, Jun 2017] See more...

Aliases for ABLIM1 Gene

Aliases for ABLIM1 Gene

  • Actin Binding LIM Protein 1 2 3 5
  • Actin-Binding LIM Protein Family Member 1 3 4
  • Actin-Binding LIM Protein 1 3 4
  • AbLIM-1 3 4
  • Limatin 2 4
  • LIMAB1 3 4
  • ABLIM 3 4
  • Actin-Binding Double-Zinc-Finger Protein 3
  • Actin-Binding Double Zinc Finger Protein 4
  • KIAA0059 4
  • LIMATIN 3
  • ABLIM1 5
  • AbLIM 2

External Ids for ABLIM1 Gene

Previous HGNC Symbols for ABLIM1 Gene

  • LIMAB1
  • ABLIM

Previous GeneCards Identifiers for ABLIM1 Gene

  • GC10M115109
  • GC10M115434
  • GC10M116322
  • GC10M115855
  • GC10M116180
  • GC10M116190
  • GC10M109817
  • GC10M114432
  • GC10M114437
  • GC10M114443
  • GC10M114450

Summaries for ABLIM1 Gene

Entrez Gene Summary for ABLIM1 Gene

  • 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. [provided by RefSeq, Jun 2017]

GeneCards Summary for ABLIM1 Gene

ABLIM1 (Actin Binding LIM Protein 1) is a Protein Coding gene. Diseases associated with ABLIM1 include Spermatogenic Failure, Y-Linked, 2. Among its related pathways are Netrin Signaling and Developmental Biology. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is ABLIM2.

UniProtKB/Swiss-Prot Summary for ABLIM1 Gene

  • May act as scaffold protein (By similarity). May play a role in the development of the retina. Has been suggested to play a role in axon guidance.

Gene Wiki entry for ABLIM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABLIM1 Gene

Genomics for ABLIM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABLIM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J114628 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.2 +188.9 188947 6.6 JUND ZNF580 ZMYM3 ZNF10 YY1 CEBPB ZNF639 ZNF341 ZFP64 KLF7 ABLIM1 SNODB803 lnc-AFAP1L2-5 AFAP1L2
GH10J114537 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 23.9 +279.9 279918 7.7 BCLAF1 POLR2A ZNF513 GABPA CBFB BHLHE40 SPI1 SRF ELF1 IKZF1 ABLIM1 CCDC186 FHIP2A MK280144-061 ENSG00000229668 lnc-AFAP1L2-3 AFAP1L2
GH10J114496 Enhancer 1 FANTOM5 ENCODE dbSUPER 19.8 +322.6 322623 4.9 BCLAF1 POLR2A TRIM22 MAFF ZNF316 EBF1 MAX NFE2 MAFK TAF1 ABLIM1 CCDC186 ENSG00000229668 lnc-AFAP1L2-3 piR-38351-061 AFAP1L2
GH10J114518 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +298.6 298585 9.6 BCLAF1 SP1 ZNF207 ZNF600 JUND ATF2 POLR2A CEBPA ZNF10 ZSCAN16 ABLIM1 ATRNL1 ENSG00000229668 lnc-AFAP1L2-3 MK280144-061 AFAP1L2
GH10J114486 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.3 +332.8 332790 3.9 JUND CEBPA ZNF10 CHD4 HOMEZ KMT2B THAP11 FOXA2 KDM6A MAFF ABLIM1 piR-38351-061 lnc-AFAP1L2-2 AFAP1L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABLIM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABLIM1

Top Transcription factor binding sites by QIAGEN in the ABLIM1 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • C/EBPalpha
  • IRF-7A
  • LCR-F1
  • Lmo2
  • SRF
  • SRF (504 AA)
  • YY1

Genomic Locations for ABLIM1 Gene

Latest Assembly
chr10:114,431,110-114,821,643
(GRCh38/hg38)
Size:
390,534 bases
Orientation:
Minus strand

Previous Assembly
chr10:116,190,869-116,528,063
(GRCh37/hg19 by Entrez Gene)
Size:
337,195 bases
Orientation:
Minus strand

chr10:116,190,872-116,444,762
(GRCh37/hg19 by Ensembl)
Size:
253,891 bases
Orientation:
Minus strand

Genomic View for ABLIM1 Gene

Genes around ABLIM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABLIM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABLIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABLIM1 Gene

Proteins for ABLIM1 Gene

  • Protein details for ABLIM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14639-ABLM1_HUMAN
    Recommended name:
    Actin-binding LIM protein 1
    Protein Accession:
    O14639
    Secondary Accessions:
    • A6NI16
    • A6NJ06
    • A8MXA9
    • B3KVH2
    • Q15039
    • Q5JVV1
    • Q5JVV2
    • Q5T6N2
    • Q5T6N3
    • Q5T6N5
    • Q68CQ9
    • Q9BUP1

    Protein attributes for ABLIM1 Gene

    Size:
    778 amino acids
    Molecular mass:
    87688 Da
    Quaternary structure:
    • Binds F-actin. Interacts with ABRA.
    SequenceCaution:
    • Sequence=BAA06681.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABLIM1 Gene

neXtProt entry for ABLIM1 Gene

Post-translational modifications for ABLIM1 Gene

  • Glycosylation at Ser452
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ABLM1_HUMAN (2904)

Antibodies for research

  • Abcam antibodies for ABLIM1
  • Boster Bio Antibodies for ABLIM1

No data available for DME Specific Peptides for ABLIM1 Gene

Domains & Families for ABLIM1 Gene

Gene Families for ABLIM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ABLIM1 Gene

InterPro:
Blocks:
  • Zn-binding protein, LIM
  • Villin headpiece

Suggested Antigen Peptide Sequences for ABLIM1 Gene

GenScript: Design optimal peptide antigens:
  • Limatin (ABLM1_HUMAN)
  • Actin binding LIM protein 1 (Q5JVU6_HUMAN)
  • Actin binding LIM protein 1 (Q5JVV0_HUMAN)
  • Actin binding LIM protein 1 (Q5JVV5_HUMAN)
  • Actin binding LIM protein 1 (Q5T6N6_HUMAN)
genes like me logo Genes that share domains with ABLIM1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ABLIM1 Gene

Function for ABLIM1 Gene

Molecular function for ABLIM1 Gene

UniProtKB/Swiss-Prot Function:
May act as scaffold protein (By similarity). May play a role in the development of the retina. Has been suggested to play a role in axon guidance.

Phenotypes From GWAS Catalog for ABLIM1 Gene

Gene Ontology (GO) - Molecular Function for ABLIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,TAS 9245787
GO:0005515 protein binding IPI 16189514
GO:0046872 metal ion binding IEA --
GO:0051015 actin filament binding IBA 21873635
genes like me logo Genes that share ontologies with ABLIM1: view
genes like me logo Genes that share phenotypes with ABLIM1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for ABLIM1

miRNA for ABLIM1 Gene

miRTarBase miRNAs that target ABLIM1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABLIM1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABLIM1 Gene

Localization for ABLIM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABLIM1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Associated with the cytoskeleton. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABLIM1 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABLIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 22684256
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0015629 actin cytoskeleton TAS,IBA 21873635
GO:0030027 lamellipodium IDA 22684256
genes like me logo Genes that share ontologies with ABLIM1: view

Pathways & Interactions for ABLIM1 Gene

PathCards logo

SuperPathways for ABLIM1 Gene

genes like me logo Genes that share pathways with ABLIM1: view

Pathways by source for ABLIM1 Gene

1 KEGG pathway for ABLIM1 Gene
1 Qiagen pathway for ABLIM1 Gene
  • Netrin Signaling

Gene Ontology (GO) - Biological Process for ABLIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0007601 visual perception TAS 9245787
GO:0009887 animal organ morphogenesis TAS 9245787
GO:0030032 lamellipodium assembly IMP 22684256
GO:0060271 cilium assembly IMP 22684256
genes like me logo Genes that share ontologies with ABLIM1: view

No data available for SIGNOR curated interactions for ABLIM1 Gene

Drugs & Compounds for ABLIM1 Gene

No Compound Related Data Available

Transcripts for ABLIM1 Gene

mRNA/cDNA for ABLIM1 Gene

27 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABLIM1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ABLIM1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - -
SP4: - - - - -
SP5: - -
SP6: -
SP7:
SP8: -
SP9:

ExUns: 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ABLIM1 Gene

GeneLoc Exon Structure for
ABLIM1

Expression for ABLIM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABLIM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABLIM1 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.8), Brain - Cerebellar Hemisphere (x5.0), and Brain - Cerebellum (x4.1).

Protein differential expression in normal tissues from HIPED for ABLIM1 Gene

This gene is overexpressed in Cervix (17.7) and Heart (17.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABLIM1 Gene



Protein tissue co-expression partners for ABLIM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABLIM1

SOURCE GeneReport for Unigene cluster for ABLIM1 Gene:

Hs.438236

mRNA Expression by UniProt/SwissProt for ABLIM1 Gene:

O14639-ABLM1_HUMAN
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.

Evidence on tissue expression from TISSUES for ABLIM1 Gene

  • Nervous system(4.8)
  • Eye(4.5)
  • Kidney(4.4)
  • Liver(4.4)
  • Blood(4.4)
  • Bone marrow(4.1)
  • Heart(2.9)
  • Lung(2.9)
  • Muscle(2.8)
  • Intestine(2.6)
  • Skin(2.5)
  • Thyroid gland(2.3)
genes like me logo Genes that share expression patterns with ABLIM1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABLIM1 Gene

Orthologs for ABLIM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ABLIM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABLIM1 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABLIM1 29 30
  • 90.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABLIM1 29 30
  • 90.27 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ablim1 29 16 30
  • 87.8 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABLIM1 30
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ablim1 29
  • 86.28 (n)
Oppossum
(Monodelphis domestica)
Mammalia ABLIM1 30
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ABLIM1 29 30
  • 84.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABLIM1 30
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100170541 29
  • 77.54 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28513 29
Zebrafish
(Danio rerio)
Actinopterygii ablim1a 29 30
  • 73.39 (n)
OneToMany
ablim1b 30
  • 65 (a)
OneToMany
Species where no ortholog for ABLIM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ABLIM1 Gene

ENSEMBL:
Gene Tree for ABLIM1 (if available)
TreeFam:
Gene Tree for ABLIM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABLIM1: view image
Alliance of Genome Resources:
Additional Orthologs for ABLIM1

Paralogs for ABLIM1 Gene

Paralogs for ABLIM1 Gene

(19) SIMAP similar genes for ABLIM1 Gene using alignment to 9 proteins:

  • ABLM1_HUMAN
  • F6XFR5_HUMAN
  • F8W8M4_HUMAN
  • H0Y3K7_HUMAN
  • H0Y7N6_HUMAN
  • J3QSX6_HUMAN
  • Q5JVV3_HUMAN
  • Q5T6N2_HUMAN
  • Q5T6N4_HUMAN
genes like me logo Genes that share paralogs with ABLIM1: view

Variants for ABLIM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABLIM1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs11593544 -- p.Pro434Thr
rs7091419 -- p.Arg637Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ABLIM1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ABLIM1 Gene

Variant ID Type Subtype PubMed ID
esv2676795 CNV deletion 23128226
esv26785 CNV loss 19812545
esv2741184 CNV deletion 23290073
esv3546882 CNV deletion 23714750
esv3546884 CNV deletion 23714750
esv3624615 CNV loss 21293372
esv3624617 CNV loss 21293372
nsv1038050 CNV gain 25217958
nsv1127143 CNV deletion 24896259
nsv1134057 CNV deletion 24896259
nsv472340 CNV novel sequence insertion 20440878
nsv528140 CNV loss 19592680
nsv7211 OTHER inversion 18451855

Variation tolerance for ABLIM1 Gene

Residual Variation Intolerance Score: 64.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.31; 62.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABLIM1 Gene

Human Gene Mutation Database (HGMD)
ABLIM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABLIM1
Leiden Open Variation Database (LOVD)
ABLIM1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABLIM1 Gene

Disorders for ABLIM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABLIM1 Gene - From: COP

Disorder Aliases PubMed IDs
spermatogenic failure, y-linked, 2
  • spgfy2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ABLIM1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ABLIM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABLIM1 Gene

Publications for ABLIM1 Gene

  1. Molecular characterization of abLIM, a novel actin-binding and double zinc finger protein. (PMID: 9245787) Roof DJ … Li T (The Journal of cell biology 1997) 2 3 4 22
  2. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S … Sun J (Carcinogenesis 2012) 3 40
  3. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T … Zhu X (Human genetics 2010) 3 40
  4. Two novel members of the ABLIM protein family, ABLIM-2 and -3, associate with STARS and directly bind F-actin. (PMID: 17194709) Barrientos T … Frey N (The Journal of biological chemistry 2007) 3 4
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 40

Products for ABLIM1 Gene

Sources for ABLIM1 Gene