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    ASCC1 activating signal cointegrator 1 complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 51008, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ASCC1provided by HGNC
    Official Full Name
    activating signal cointegrator 1 complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:24268
    See related
    Ensembl:ENSG00000138303 MIM:614215; AllianceGenome:HGNC:24268
    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
    p50; CGI-18; SMABF2; ASC1p50
    Summary
    This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in testis (RPKM 7.6), brain (RPKM 6.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q22.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (72096032..72217134, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (72966865..73088203, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (73855790..73976892, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73828839-73829346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73829527-73830028 Neighboring gene SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73840535-73841319 Neighboring gene small nucleolar RNA SNORA36 family Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73950125-73950295 Neighboring gene ribosomal protein L15 pseudogene 14 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73973271-73973772 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73973773-73974272 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73975455-73976450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73977030-73977571 Neighboring gene anaphase promoting complex subunit 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74007658-74008225 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74008226-74008794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74008795-74009361 Neighboring gene Sharpr-MPRA regulatory region 8691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3533 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74020023-74020666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74030210-74030710 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74030711-74031211 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74032179-74032702 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74032703-74033226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:74035325-74035848 Neighboring gene DDIT4 antisense RNA 1 Neighboring gene DNA damage inducible transcript 4

    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. Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene. Sharova M, et al. Am J Med Genet A, 2022 Oct. PMID 35838082
    2. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2). Rosano KK, et al. Am J Med Genet A, 2021 Jul. PMID 33931933, Free PMC Article
    3. Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women. Cho HW, et al. J Bone Miner Metab, 2020 Nov. PMID 32653958
    4. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. Giuffrida MG, et al. Am J Med Genet A, 2020 Mar. PMID 31880396
    5. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. Böhm J, et al. J Med Genet, 2019 Sep. PMID 30327447

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
      Title: Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
    2. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
      Title: Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
    3. Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.
      Title: Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.
    4. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
      Title: A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
    5. Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women.
      Title: Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women.
    6. this work expands the ASCC1 mutation spectrum, sheds light on the muscle histology of the disorder and emphasises the physiological importance of the ASC-1 complex in fetal muscle and bone development.
      Title: Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.
    7. ASCC1 knockout through a CRISPR/Cas9 approach results in alkylation damage sensitivity in a manner epistatic with ASCC3.
      Title: RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage.
    8. Our patient was also found to have a homozygous frameshift variant (c.157dupG, p.Glu53Glyfs*19) in ASCC1 , thereby representing the second known case. This confirms ASCC1 involvement in a severe neuromuscular disease lying within the spinal muscular atrophy or primary muscle disease spectra
      Title: The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.
    9. ASCC1 inhibits NF-kappaB activation and a truncated and inactive variant of ASCC1 is associated with a more severe disease, which could have clinical value for assessing the progression and prognosis of Rheumatoid Arthritis.
      Title: A Truncated Variant of ASCC1, a Novel Inhibitor of NF-κB, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis.
    10. Three major genes, MSR1, ASCC1, and CTHRC1 were associated with Barrett esophagus/esophageal adenocarcinoma
      Title: Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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
    Barrett esophagus
    MedGen: C0004763 OMIM: 614266 GeneReviews: Not available
    		Compare labs
    Spinal muscular atrophy with congenital bone fractures 2
    MedGen: C4225176 OMIM: 616867 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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA alkylation repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA duplex unwinding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of DNA repair complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in neuromuscular junction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    activating signal cointegrator 1 complex subunit 1
    Names
    ASC-1 complex subunit P50
    trip4 complex subunit p50

    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_031890.1 RefSeqGene

      Range
      5859..126103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198798.2 → NP_001185727.1  activating signal cointegrator 1 complex subunit 1 isoform b

      See identical proteins and their annotated locations for NP_001185727.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks three exons in the coding region, which results in a translational frameshift, compared to variant 1. Variants 2 and 4 encode the same isoform (b) which is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC022392, BC012291, DA951859
      Consensus CDS
      CCDS31219.1
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 356
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    2. NM_001198799.3 → NP_001185728.1  activating signal cointegrator 1 complex subunit 1 isoform a

      See identical proteins and their annotated locations for NP_001185728.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC022392, AK094170, DA942671
      Consensus CDS
      CCDS55713.1
      UniProtKB/Swiss-Prot
      Q5SW06, Q5SW07, Q8N9N2, Q96EI8, Q9Y307
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Related
      ENSP00000339404.4, ENST00000342444.8
      Conserved Domains (3) summary
      PLN00108
      Location:157 → 370
      PLN00108; unknown protein; Provisional
      cd02394
      Location:99 → 148
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:161 → 349
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    3. NM_001198800.3 → NP_001185729.1  activating signal cointegrator 1 complex subunit 1 isoform b

      See identical proteins and their annotated locations for NP_001185729.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three exons in the coding region, which results in a translational frameshift, compared to variant 1. Variants 2 and 4 encode the same isoform (b) which is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC022392, AK023436
      Consensus CDS
      CCDS31219.1
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Related
      ENSP00000500935.1, ENST00000672957.1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 356
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    4. NM_001369085.1 → NP_001356014.1  activating signal cointegrator 1 complex subunit 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      B7Z518
      Conserved Domains (2) summary
      cd02394
      Location:84 → 142
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:155 → 354
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    5. NM_001369086.1 → NP_001356015.1  activating signal cointegrator 1 complex subunit 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      B7Z518
      Conserved Domains (2) summary
      cd02394
      Location:84 → 142
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:155 → 354
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    6. NM_001369087.1 → NP_001356016.1  activating signal cointegrator 1 complex subunit 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 332
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    7. NM_001369088.1 → NP_001356017.1  activating signal cointegrator 1 complex subunit 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 332
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    8. NM_001369089.1 → NP_001356018.1  activating signal cointegrator 1 complex subunit 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 332
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    9. NM_001369090.1 → NP_001356019.1  activating signal cointegrator 1 complex subunit 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      H0YCB3
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 332
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    10. NM_001369091.1 → NP_001356020.1  activating signal cointegrator 1 complex subunit 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      H0YCB3
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 332
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    11. NM_001369092.1 → NP_001356021.1  activating signal cointegrator 1 complex subunit 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      H0YCB3
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 332
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    12. NM_001369093.1 → NP_001356022.1  activating signal cointegrator 1 complex subunit 1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      Consensus CDS
      CCDS31219.1
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Related
      ENSP00000500488.1, ENST00000672774.1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 356
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    13. NM_001369094.1 → NP_001356023.1  activating signal cointegrator 1 complex subunit 1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      Consensus CDS
      CCDS31219.1
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 356
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    14. NM_001369095.1 → NP_001356024.1  activating signal cointegrator 1 complex subunit 1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      Consensus CDS
      CCDS31219.1
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 356
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    15. NM_001369096.1 → NP_001356025.1  activating signal cointegrator 1 complex subunit 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 313
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    16. NM_001369097.1 → NP_001356026.1  activating signal cointegrator 1 complex subunit 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 313
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    17. NM_001369098.1 → NP_001356027.1  activating signal cointegrator 1 complex subunit 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 313
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    18. NM_001369099.1 → NP_001356028.1  activating signal cointegrator 1 complex subunit 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      B7Z518
      Conserved Domains (2) summary
      cd02394
      Location:84 → 142
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:155 → 338
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    19. NM_001369100.1 → NP_001356029.1  activating signal cointegrator 1 complex subunit 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 292
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    20. NM_001369101.1 → NP_001356030.1  activating signal cointegrator 1 complex subunit 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      H0YCB3
      Conserved Domains (2) summary
      cd02394
      Location:23 → 81
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:94 → 293
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    21. NM_001369102.1 → NP_001356031.1  activating signal cointegrator 1 complex subunit 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      H0YCB3
      Related
      ENSP00000431299.1, ENST00000486689.6
      Conserved Domains (2) summary
      cd02394
      Location:23 → 81
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:94 → 293
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    22. NM_001369103.1 → NP_001356032.1  activating signal cointegrator 1 complex subunit 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 292
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    23. NM_001369104.1 → NP_001356033.1  activating signal cointegrator 1 complex subunit 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 292
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    24. NM_001369105.1 → NP_001356034.1  activating signal cointegrator 1 complex subunit 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:23 → 81
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:94 → 317
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    25. NM_001369106.1 → NP_001356035.1  activating signal cointegrator 1 complex subunit 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:23 → 81
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:94 → 317
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    26. NM_001369107.1 → NP_001356036.1  activating signal cointegrator 1 complex subunit 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:23 → 81
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:94 → 317
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    27. NM_001369108.1 → NP_001356037.1  activating signal cointegrator 1 complex subunit 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      Consensus CDS
      CCDS91260.1
      UniProtKB/TrEMBL
      A0A5F9ZH79, A0A5F9ZHP1
      Related
      ENSP00000500074.1, ENST00000672940.1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 316
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    28. NM_001369109.1 → NP_001356038.1  activating signal cointegrator 1 complex subunit 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      Consensus CDS
      CCDS91260.1
      UniProtKB/TrEMBL
      A0A5F9ZH79, A0A5F9ZHP1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 316
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    29. NM_001369110.1 → NP_001356039.1  activating signal cointegrator 1 complex subunit 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      A0A5F9ZI37
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 287
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    30. NM_001369111.1 → NP_001356040.1  activating signal cointegrator 1 complex subunit 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      UniProtKB/TrEMBL
      A0A5F9ZI37
      Related
      ENSP00000500906.1, ENST00000671788.1
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:133 → 287
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    31. NM_001369112.1 → NP_001356041.1  activating signal cointegrator 1 complex subunit 1 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC022392, AL607035
      Consensus CDS
      CCDS91259.1
      UniProtKB/TrEMBL
      A0A5K1VW55
      Related
      ENSP00000320810.7, ENST00000317168.11
      Conserved Domains (2) summary
      cd02394
      Location:62 → 120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      cl26521
      Location:133 → 247
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    RNA

    1. NR_045564.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate 5'-most exon and lacks three internal exons, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC022392, AK298302, CD706699, DC361917

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      72096032..72217134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425261.1 → XP_047281217.1  activating signal cointegrator 1 complex subunit 1 isoform X6

    2. XM_047425258.1 → XP_047281214.1  activating signal cointegrator 1 complex subunit 1 isoform X4

    3. XM_047425257.1 → XP_047281213.1  activating signal cointegrator 1 complex subunit 1 isoform X3

    4. XM_047425259.1 → XP_047281215.1  activating signal cointegrator 1 complex subunit 1 isoform X5

    5. XM_024448032.2 → XP_024303800.1  activating signal cointegrator 1 complex subunit 1 isoform X1

      UniProtKB/TrEMBL
      B7Z518
      Conserved Domains (2) summary
      cd02394
      Location:84 → 142
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:155 → 335
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    6. XM_047425256.1 → XP_047281212.1  activating signal cointegrator 1 complex subunit 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      72966865..73088203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365974.1 → XP_054221949.1  activating signal cointegrator 1 complex subunit 1 isoform X6

    2. XM_054365972.1 → XP_054221947.1  activating signal cointegrator 1 complex subunit 1 isoform X4

    3. XM_054365971.1 → XP_054221946.1  activating signal cointegrator 1 complex subunit 1 isoform X3

    4. XM_054365973.1 → XP_054221948.1  activating signal cointegrator 1 complex subunit 1 isoform X5

    5. XM_054365969.1 → XP_054221944.1  activating signal cointegrator 1 complex subunit 1 isoform X1

    6. XM_054365970.1 → XP_054221945.1  activating signal cointegrator 1 complex subunit 1 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_015947.3: Suppressed sequence

      Description
      NM_015947.3: This RefSeq was temporarily 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
    Q8N9N2.1 GenPept UniProtKB/Swiss-Prot:Q8N9N2

    Gene LinkOut

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

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