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    ANLN anillin, actin binding protein [ Homo sapiens (human) ]

    Gene ID: 54443, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ANLNprovided by HGNC
    Official Full Name
    anillin, actin binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:14082
    See related
    Ensembl:ENSG00000011426 MIM:616027; AllianceGenome:HGNC:14082
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    scra; FSGS8; Scraps
    Summary
    This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
    Expression
    Biased expression in brain (RPKM 30.2), bone marrow (RPKM 11.3) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANLN in Genome Data Viewer
    Location:
    7p14.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (36389862..36453791)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (36531130..36594288)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (36429471..36493400)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18100 Neighboring gene NANOG hESC enhancer GRCh37_chr7:36197697-36198217 Neighboring gene MARK2 pseudogene 7 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36254183-36255020 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36255021-36255856 Neighboring gene endonuclease/exonuclease/phosphatase family domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:36285803-36286305 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36297422-36298230 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36298231-36299037 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36320693-36321354 Neighboring gene Sharpr-MPRA regulatory region 9097 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36351141-36351658 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:36399716-36400433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18101 Neighboring gene microtubule associated tyrosine carboxypeptidase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:36429116-36429706 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:36429707-36430297 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:36544967-36546166 Neighboring gene NFE2L2 motif-containing MPRA enhancer 148 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98398 Neighboring gene acyloxyacyl hydrolase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36655105-36655606 Neighboring gene AOAH intronic transcript 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:36693505-36694049 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:36701053-36701595 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:36802118-36803317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25844 Neighboring gene nucleophosmin 1 pseudogene 18

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effects of a novel ANLN E841K mutation associated with SRNS on podocytes and its mechanism.
      Title: Effects of a novel ANLN E841K mutation associated with SRNS on podocytes and its mechanism.
    2. A Therapeutically Targetable TAZ-TEAD2 Pathway Drives the Growth of Hepatocellular Carcinoma via ANLN and KIF23.
      Title: A Therapeutically Targetable TAZ-TEAD2 Pathway Drives the Growth of Hepatocellular Carcinoma via ANLN and KIF23.
    3. Knockdown of ANLN inhibits the progression of lung adenocarcinoma via pyroptosis activation.
      Title: Knockdown of ANLN inhibits the progression of lung adenocarcinoma via pyroptosis activation.
    4. ANLN Serves as an Oncogene in Bladder Urothelial Carcinoma via Activating JNK Signaling Pathway.
      Title: ANLN Serves as an Oncogene in Bladder Urothelial Carcinoma via Activating JNK Signaling Pathway.
    5. Cytokinetic diversity in mammalian cells is revealed by the characterization of endogenous anillin, Ect2 and RhoA.
      Title: Cytokinetic diversity in mammalian cells is revealed by the characterization of endogenous anillin, Ect2 and RhoA.
    6. E2F7 enhances hepatocellular carcinoma growth by preserving the SP1/SOX4/Anillin axis via repressing miRNA-383-5p transcription.
      Title: E2F7 enhances hepatocellular carcinoma growth by preserving the SP1/SOX4/Anillin axis via repressing miRNA-383-5p transcription.
    7. Comprehensive Analysis of ANLN in Human Tumors: A Prognostic Biomarker Associated with Cancer Immunity.
      Title: Comprehensive Analysis of ANLN in Human Tumors: A Prognostic Biomarker Associated with Cancer Immunity.
    8. Alternatively spliced ANLN isoforms synergistically contribute to the progression of head and neck squamous cell carcinoma.
      Title: Alternatively spliced ANLN isoforms synergistically contribute to the progression of head and neck squamous cell carcinoma.
    9. Actin-binding protein Anillin promotes the progression of gastric cancer in vitro and in mice.
      Title: Actin-binding protein Anillin promotes the progression of gastric cancer in vitro and in mice.
    10. LncRNA XIST promotes chemoresistance of breast cancer cells to doxorubicin by sponging miR-200c-3p to upregulate ANLN.
      Title: LncRNA XIST promotes chemoresistance of breast cancer cells to doxorubicin by sponging miR-200c-3p to upregulate ANLN.
    Submit: New GeneRIF Correction See all GeneRIFs (47)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Focal segmental glomerulosclerosis 8
    MedGen: C4014993 OMIM: 616032 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr upregulates ANLN in HeLa cells within 12 hours of exposure PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp779A055

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actomyosin contractile ring assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mitotic cytokinesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in podocyte cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of bleb assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of exit from mitosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in septin ring assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in septin ring organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in actomyosin contractile ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in actomyosin contractile ring IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in bleb IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    anillin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041770.1 RefSeqGene

      Range
      5060..68989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001284301.3 → NP_001271230.1  anillin isoform 2

      See identical proteins and their annotated locations for NP_001271230.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC006960, BC070066
      Consensus CDS
      CCDS64628.1
      UniProtKB/TrEMBL
      A8K5D9
      Related
      ENSP00000379380.2, ENST00000396068.6
      Conserved Domains (4) summary
      cd01263
      Location:946 → 1073
      PH_anillin; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:950 → 1069
      PH; PH domain
      pfam08174
      Location:763 → 916
      Anillin; Cell division protein anillin
      pfam16018
      Location:142 → 229
      Anillin_N; Anillin N-terminus

    2. NM_001284302.3 → NP_001271231.1  anillin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon and uses an alternate in-frame splice site compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC006960, AK291254, BC070066
      UniProtKB/TrEMBL
      A8K5D9
      Conserved Domains (4) summary
      cd01263
      Location:945 → 1072
      PH_anillin; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:949 → 1068
      PH; PH domain
      pfam08174
      Location:762 → 915
      Anillin; Cell division protein anillin
      pfam16018
      Location:142 → 229
      Anillin_N; Anillin N-terminus

    3. NM_018685.5 → NP_061155.2  anillin isoform 1

      See identical proteins and their annotated locations for NP_061155.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC006960, AF273437, BC070066
      Consensus CDS
      CCDS5447.1
      UniProtKB/Swiss-Prot
      Q5CZ78, Q6NSK5, Q9H8Y4, Q9NQW6, Q9NVN9, Q9NVP0
      UniProtKB/TrEMBL
      A8K5D9
      Related
      ENSP00000265748.2, ENST00000265748.7
      Conserved Domains (4) summary
      cd01263
      Location:983 → 1110
      PH_anillin; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:987 → 1106
      PH; PH domain
      pfam08174
      Location:800 → 953
      Anillin; Cell division protein anillin
      pfam16018
      Location:142 → 229
      Anillin_N; Anillin N-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      36389862..36453791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715746.3 → XP_006715809.1  anillin isoform X1

      UniProtKB/TrEMBL
      A8K5D9
      Conserved Domains (1) summary
      cd01263
      Location:1001 → 1128
      PH_anillin; Anillin Pleckstrin homology (PH) domain

    2. XM_017012354.3 → XP_016867843.1  anillin isoform X2

      UniProtKB/TrEMBL
      A8K5D9

    3. XM_017012355.3 → XP_016867844.1  anillin isoform X3

      UniProtKB/TrEMBL
      A8K5D9

    4. XM_006715747.5 → XP_006715810.1  anillin isoform X4

      UniProtKB/TrEMBL
      A8K5D9
      Conserved Domains (4) summary
      cd01263
      Location:964 → 1091
      PH_anillin; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:968 → 1087
      PH; PH domain
      pfam08174
      Location:763 → 916
      Anillin; Cell division protein anillin
      pfam16018
      Location:142 → 229
      Anillin_N; Anillin N-terminus

    5. XM_047420504.1 → XP_047276460.1  anillin isoform X5

    6. XM_017012356.3 → XP_016867845.1  anillin isoform X6

      UniProtKB/TrEMBL
      A8K5D9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      36531130..36594288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358468.1 → XP_054214443.1  anillin isoform X1

    2. XM_054358469.1 → XP_054214444.1  anillin isoform X2

    3. XM_054358470.1 → XP_054214445.1  anillin isoform X3

    4. XM_054358471.1 → XP_054214446.1  anillin isoform X4

    5. XM_054358472.1 → XP_054214447.1  anillin isoform X5

    6. XM_054358473.1 → XP_054214448.1  anillin isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQW6.2 GenPept UniProtKB/Swiss-Prot:Q9NQW6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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