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

Gene ID: 54443, updated on 7-Apr-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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Location:
7p14.2
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (36389862..36453791)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (36531130..36594288)
105.20220307 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
  • 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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Related articles in PubMed

  1. ANLN Serves as an Oncogene in Bladder Urothelial Carcinoma via Activating JNK Signaling Pathway. Chen S, et al. Urol Int, 2023. PMID 35504258
  2. Comprehensive Analysis of ANLN in Human Tumors: A Prognostic Biomarker Associated with Cancer Immunity. Zhang X, et al. Oxid Med Cell Longev, 2022. PMID 35340220, Free PMC Article
  3. Alternatively spliced ANLN isoforms synergistically contribute to the progression of head and neck squamous cell carcinoma. Guo E, et al. Cell Death Dis, 2021 Aug 3. PMID 34344861, Free PMC Article
  4. Anillin propels myosin-independent constriction of actin rings. Kučera O, et al. Nat Commun, 2021 Jul 28. PMID 34321459, Free PMC Article
  5. ANLN promotes carcinogenesis in oral cancer by regulating the PI3K/mTOR signaling pathway. Wang B, et al. Head Face Med, 2021 Jun 3. PMID 34082790, Free PMC Article

See all (115) citations in PubMed

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
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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 
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_2023_10

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

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