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    AP1S1 adaptor related protein complex 1 subunit sigma 1 [ Homo sapiens (human) ]

    Gene ID: 1174, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AP1S1provided by HGNC
    Official Full Name
    adaptor related protein complex 1 subunit sigma 1provided by HGNC
    Primary source
    HGNC:HGNC:559
    See related
    Ensembl:ENSG00000106367 MIM:603531; AllianceGenome:HGNC:559
    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
    AP19; EKV3; CLAPS1; MEDNIK; SIGMA1A
    Summary
    The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 52.8), colon (RPKM 23.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AP1S1 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (101154476..101161276)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (102477198..102484025)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100797757..100804557)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100730454-100731094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100731095-100731734 Neighboring gene tripartite motif containing 56 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100742673-100743380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100743381-100744088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100751090-100752040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100752041-100752991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100755193-100755694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100760705-100761406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100765023-100765642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100766263-100766880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100769261-100770040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100770821-100771600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100771601-100772380 Neighboring gene serpin family E member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100778603-100779104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100781393-100782168 Neighboring gene negCOR silencer S6 Neighboring gene Sharpr-MPRA regulatory region 5920 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100798163-100798663 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:100799642-100800841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18478 Neighboring gene microRNA 4653 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100812095-100812265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100814834-100815448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100815449-100816062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100816063-100816676 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100816815-100817027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100817327-100817832 Neighboring gene VGF nerve growth factor inducible Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100823355-100824077 Neighboring gene N-acetyltransferase 16 (putative)

    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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    Related articles in PubMed

    1. MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. Martinelli D, et al. Brain, 2013 Mar. PMID 23423674
    2. AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect. Klee KMC, et al. Hum Genet, 2020 Oct. PMID 32306098, Free PMC Article
    3. An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. Saba TG, et al. Hum Genet, 2005 Feb. PMID 15668823
    4. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. Montpetit A, et al. PLoS Genet, 2008 Dec. PMID 19057675, Free PMC Article
    5. Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs). Boehm M, et al. EMBO J, 2001 Nov 15. PMID 11707398, Free PMC Article

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
      Title: AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
    2. We solved the pathogenetic mechanism of MEDNIK syndrome, demonstrating that AP1S1 regulates intracellular copper machinery mediated by copper-pump proteins
      Title: MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
    3. A splice mutation in AP1S1 was found in four families with a neurocutaneous syndrome.
      Title: Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.
    4. Isolation and description of the rat and mouse genes.
      Title: AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast.
    Submit: New GeneRIF Correction

    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
    MEDNIK syndrome
    MedGen: C1836330 OMIM: 609313 GeneReviews: Not available
    		Compare labs

    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
    Envelope transmembrane glycoprotein gp41 env The highly conserved C-terminal dileucine motif (residues 851-856) in the cytosolic domain of HIV-1 gp41 interacts with clathrin-associated AP-1 adaptor complexes PubMed
    env The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes PubMed
    Nef nef Adaptor-related protein complex 1 (AP-1) is necessary for cross-presentation by MHC-I HLA-A and HLA-B molecules containing a cytoplasmic tail tyrosine signal and that HIV-1 Nef inhibits the cross-presentation in antigen-presenting cells PubMed
    nef Exogenous Nef and TNF-alpha synergistically activate NF-kappaB and AP-1 resulting in enhancing viral replication in both chronically infected promonocytic cells and acutely infected primary macrophages PubMed
    nef HIV-1 Nef stabilizes AP-1 complexes on endosomal membranes after ADP-ribosylation factor-1 (ARF1) -dependent attachment PubMed
    nef The dileucine motif (residues 164-165) in HIV-1 Nef is required for binding to AP-1 complexes and stabilizing their association with membranes PubMed
    nef A leucine-based motif near the C-terminus of HIV-1 Nef interacts with AP-1 complexes; residues 164 and 165 in Nef are required for the interaction with AP-1 PubMed
    Vpu vpu Crystal structure indicates that Vpu L66 and V67 embed into the hydrophobic pocket on AP1 sigma 1 to accommodate the canonical dileucine residues, while Vpu E62 forms a salt bridge with R15 of AP1 gamma 1 PubMed
    vpu Fusion of the Vpu cytoplasmic domain (residues 28-80) to the BST2 cytoplasmic domain (residues 1-21) enhances binding to the beta, mu, and sigma subunits of adaptor-related protein complex 1 (AP1) in cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ92436

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables clathrin adaptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in basolateral protein secretion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in melanosome assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in platelet dense granule organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in response to virus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of AP-1 adaptor complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of AP-1 adaptor complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in early endosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in trans-Golgi network membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    AP-1 complex subunit sigma-1A
    Names
    HA1 19 kDa subunit
    adapter-related protein complex 1 sigma-1A subunit
    adaptor protein complex AP-1 subunit sigma-1A
    adaptor related protein complex 1 sigma 1 subunit
    adaptor-related protein complex 1 subunit sigma-1A
    clathrin assembly protein complex 1 sigma-1A small chain
    clathrin coat assembly protein AP19
    clathrin-associated/assembly/adaptor protein, small 1 (19kD)
    golgi adaptor HA1/AP1 adaptin sigma-1A subunit
    sigma1A subunit of AP-1 clathrin adaptor complex
    sigma1A-adaptin

    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_033082.2 RefSeqGene

      Range
      5079..11879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1363

    mRNA and Protein(s)

    1. NM_001283.5 → NP_001274.1  AP-1 complex subunit sigma-1A

      See identical proteins and their annotated locations for NP_001274.1

      Status: REVIEWED

      Source sequence(s)
      AC004876, AK312151, AL578356, CA426442
      Consensus CDS
      CCDS47669.1
      UniProtKB/Swiss-Prot
      B2R5D8, P61966, P82267, Q00382, Q53YA7, Q9BTN4, Q9UDW9
      Related
      ENSP00000336666.5, ENST00000337619.11
      Conserved Domains (1) summary
      cd14831
      Location:3 → 145
      AP1_sigma; AP-1 complex subunit sigma

    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
      101154476..101161276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      102477198..102484025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_057089.2: Suppressed sequence

      Description
      NM_057089.2: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P61966.1 GenPept UniProtKB/Swiss-Prot:P61966

    Gene LinkOut

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

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