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    SPIDR scaffold protein involved in DNA repair [ Homo sapiens (human) ]

    Gene ID: 23514, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SPIDRprovided by HGNC
    Official Full Name
    scaffold protein involved in DNA repairprovided by HGNC
    Primary source
    HGNC:HGNC:28971
    See related
    Ensembl:ENSG00000164808 MIM:615384; AllianceGenome:HGNC:28971
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ODG9; KIAA0146
    Summary
    Involved in several processes, including cellular response to camptothecin; cellular response to hydroxyurea; and regulation of double-strand break repair. Located in nuclear chromosome and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lung (RPKM 8.1), thyroid (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8q11.21
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (47260878..47736306)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (47636640..48112023)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (48173470..48648868)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 2 Neighboring gene immunoglobulin lambda variable 8/OR8-1 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27325 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:48265441-48266640 Neighboring gene uncharacterized LOC107986940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:48293763-48294299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:48294300-48294835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27326 Neighboring gene NSFL1 cofactor pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:48424491-48425392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:48436649-48437622 Neighboring gene ribosomal protein S4 Y-linked 2 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:48489077-48489576 Neighboring gene ubiquitin conjugating enzyme E2 N pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:48552828-48553328 Neighboring gene RNA, U6 small nuclear 665, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:48649750-48650688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:48664855-48665355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27329 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:48678117-48678684 Neighboring gene CCAAT enhancer binding protein delta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:48734487-48735248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:48737843-48738343 Neighboring gene Sharpr-MPRA regulatory region 7649 Neighboring gene protein kinase, DNA-activated, catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:48770411-48770910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27330 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:48836071-48836571 Neighboring gene uncharacterized LOC105375818

    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. A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability. Heddar A, et al. Clin Genet, 2022 Feb. PMID 34697795
    2. A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. Smirin-Yosef P, et al. J Clin Endocrinol Metab, 2017 Feb 1. PMID 27967308
    3. Comparative host gene transcription by microarray analysis early after infection of the Huh7 cell line by severe acute respiratory syndrome coronavirus and human coronavirus 229E. Tang BS, et al. J Virol, 2005 May. PMID 15858003, Free PMC Article
    4. Gene expression profile in interleukin-4-stimulated human vascular endothelial cells. Lee YW, et al. Mol Med, 2004 Jan-Jun. PMID 15502879, Free PMC Article
    5. Instability at the FRA8I common fragile site disrupts the genomic integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal cancer. Brueckner LM, et al. Cancer Lett, 2013 Aug 9. PMID 23603433

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.
      Title: A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.
    2. our study uncovers a protein complex, which consists of SWS1, SWSAP1, SPIDR and PDS5B, involved in DNA repair and provides insight into Shu complex function and composition.
      Title: The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination.
    3. A biallelic mutation in SPIDR may be associated with ovarian dysgenesis in cases of autosomal recessive inheritance.
      Title: A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.
    4. KIAA0146 is also known as scaffolding protein involved in DNA repair (SPIDR), as a binding partner of FIGNL1 and established that KIAA0146/SPIDR acts with FIGNL1 in homologous recombination repair
      Title: FIGNL1-containing protein complex is required for efficient homologous recombination repair.
    5. Consistent with its role as a scaffolding protein for the assembly of BLM and RAD51 foci, cells depleted of SPIDR show increased rate of sister chromatid exchange and defects in homologous recombination repair.
      Title: Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair.
    6. The FRA8I fragile site includes KIAA0146, CEBPD and PRKDC and may have a role in colorectal cancer
      Title: Instability at the FRA8I common fragile site disrupts the genomic integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal cancer.
    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
    Ovarian dysgenesis 9
    MedGen: C5562046 OMIM: 619665 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

    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

    • FLJ35017, KIAA0146

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to camptothecin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to hydroxyurea IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of establishment of protein localization to chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of establishment of protein localization to chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nuclear chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    DNA repair-scaffolding protein
    Names
    scaffolding protein involved in DNA repair

    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.

    mRNA and Protein(s)

    1. NM_001080394.4 → NP_001073863.1  DNA repair-scaffolding protein isoform 1

      See identical proteins and their annotated locations for NP_001073863.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC023991, AC233269, BM981420, D63480
      Consensus CDS
      CCDS43737.1
      UniProtKB/Swiss-Prot
      B4DFV2, B4E0Y6, Q14159, Q96BI5
      Related
      ENSP00000297423.4, ENST00000297423.9
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 369
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:521 → 905
      DUF4503; Domain of unknown function (DUF4503)

    2. NM_001282916.1 → NP_001269845.1  DNA repair-scaffolding protein isoform 2

      See identical proteins and their annotated locations for NP_001269845.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region which results in the use of a downstream start codon, compred to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC023991, AC233269, AK294275, BM981420
      Consensus CDS
      CCDS64891.1
      UniProtKB/Swiss-Prot
      Q14159
      Related
      ENSP00000444061.1, ENST00000541342.2
      Conserved Domains (2) summary
      pfam14950
      Location:25 → 299
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:451 → 835
      DUF4503; Domain of unknown function (DUF4503)

    3. NM_001282919.1 → NP_001269848.1  DNA repair-scaffolding protein isoform 3

      See identical proteins and their annotated locations for NP_001269848.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding and lacks an exon in the 3' coding region. These differences cause translation initiation at a downstream AUG and a frameshift in the 3' coding egion . The resulting isoform (3) is shorter and has a distinct N-and C-termini, compared to isoform 1.
      Source sequence(s)
      AK303579, BM981420, HY012281
      Consensus CDS
      CCDS64890.1
      UniProtKB/Swiss-Prot
      Q14159
      Related
      ENSP00000429487.1, ENST00000518074.5
      Conserved Domains (2) summary
      pfam14950
      Location:3 → 309
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:461 → 790
      DUF4503; Domain of unknown function (DUF4503)

    4. NM_001352931.1 → NP_001339860.1  DNA repair-scaffolding protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      UniProtKB/TrEMBL
      B4DEV5
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 369
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:521 → 850
      DUF4503; Domain of unknown function (DUF4503)

    5. NM_001352932.1 → NP_001339861.1  DNA repair-scaffolding protein isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 329
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:481 → 865
      DUF4503; Domain of unknown function (DUF4503)

    6. NM_001352933.1 → NP_001339862.1  DNA repair-scaffolding protein isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:3 → 309
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:461 → 845
      DUF4503; Domain of unknown function (DUF4503)

    7. NM_001352934.1 → NP_001339863.1  DNA repair-scaffolding protein isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      UniProtKB/TrEMBL
      B4DEV5
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 369
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:521 → 814
      DUF4503; Domain of unknown function (DUF4503)

    8. NM_001352935.1 → NP_001339864.1  DNA repair-scaffolding protein isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:25 → 299
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:451 → 780
      DUF4503; Domain of unknown function (DUF4503)

    9. NM_001352936.1 → NP_001339865.1  DNA repair-scaffolding protein isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      UniProtKB/TrEMBL
      B4DEV5
      Conserved Domains (2) summary
      pfam14950
      Location:25 → 299
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:451 → 710
      DUF4503; Domain of unknown function (DUF4503)

    10. NM_001352937.1 → NP_001339866.1  DNA repair-scaffolding protein isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      UniProtKB/TrEMBL
      B4DEV5
      Conserved Domains (2) summary
      pfam14950
      Location:3 → 309
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:461 → 754
      DUF4503; Domain of unknown function (DUF4503)

    11. NM_001352938.1 → NP_001339867.1  DNA repair-scaffolding protein isoform 12

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variants 14 and 15, encodes isoform 12.
      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 205
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:357 → 741
      DUF4503; Domain of unknown function (DUF4503)

    12. NM_001352939.1 → NP_001339868.1  DNA repair-scaffolding protein isoform 12

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14), as well as variants 13 and 15, encodes isoform 12.
      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 205
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:357 → 741
      DUF4503; Domain of unknown function (DUF4503)

    13. NM_001352940.1 → NP_001339869.1  DNA repair-scaffolding protein isoform 12

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15), as well as variants 13 and 14, encodes isoform 12.
      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 205
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:357 → 741
      DUF4503; Domain of unknown function (DUF4503)

    14. NM_001352941.1 → NP_001339870.1  DNA repair-scaffolding protein isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 197
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:349 → 733
      DUF4503; Domain of unknown function (DUF4503)

    15. NM_001352942.1 → NP_001339871.1  DNA repair-scaffolding protein isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:1 → 150
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:302 → 686
      DUF4503; Domain of unknown function (DUF4503)

    16. NM_001352943.1 → NP_001339872.1  DNA repair-scaffolding protein isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 205
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:357 → 616
      DUF4503; Domain of unknown function (DUF4503)

    17. NM_001352944.1 → NP_001339873.1  DNA repair-scaffolding protein isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 197
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:349 → 608
      DUF4503; Domain of unknown function (DUF4503)

    18. NM_001352945.1 → NP_001339874.1  DNA repair-scaffolding protein isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:43 → 127
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:279 → 663
      DUF4503; Domain of unknown function (DUF4503)

    19. NM_001352946.1 → NP_001339875.1  DNA repair-scaffolding protein isoform 18

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21), as well as variants 22 and 23, encodes isoform 18.
      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:5 → 119
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:271 → 655
      DUF4503; Domain of unknown function (DUF4503)

    20. NM_001352947.1 → NP_001339876.1  DNA repair-scaffolding protein isoform 18

      Status: VALIDATED

      Description
      Transcript Variant: This variant (22), as well as variants 21 and 23, encodes isoform 18.
      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:5 → 119
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:271 → 655
      DUF4503; Domain of unknown function (DUF4503)

    21. NM_001352948.1 → NP_001339877.1  DNA repair-scaffolding protein isoform 18

      Status: VALIDATED

      Description
      Transcript Variant: This variant (23), as well as variants 21 and 22, encodes isoform 18.
      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:5 → 119
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:271 → 655
      DUF4503; Domain of unknown function (DUF4503)

    22. NM_001352949.1 → NP_001339878.1  DNA repair-scaffolding protein isoform 19

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:1 → 150
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:302 → 631
      DUF4503; Domain of unknown function (DUF4503)

    23. NM_001352950.1 → NP_001339879.1  DNA repair-scaffolding protein isoform 20

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 205
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:357 → 650
      DUF4503; Domain of unknown function (DUF4503)

    24. NM_001352951.1 → NP_001339880.1  DNA repair-scaffolding protein isoform 21

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Conserved Domains (2) summary
      pfam14950
      Location:5 → 119
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:271 → 600
      DUF4503; Domain of unknown function (DUF4503)

    25. NM_001352952.1 → NP_001339881.1  DNA repair-scaffolding protein isoform 22

      Status: VALIDATED

      Description
      Transcript Variant: This variant (27), as well as variants 28, 29, and 30, encodes isoform 22.
      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      UniProtKB/TrEMBL
      H0YBC9
      Conserved Domains (2) summary
      pfam14950
      Location:1 → 58
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:210 → 594
      DUF4503; Domain of unknown function (DUF4503)

    26. NM_001352953.1 → NP_001339882.1  DNA repair-scaffolding protein isoform 22

      Status: VALIDATED

      Description
      Transcript Variant: This variant (28), as well as variants 27, 29, and 30, encodes isoform 22.
      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      UniProtKB/TrEMBL
      H0YBC9
      Conserved Domains (2) summary
      pfam14950
      Location:1 → 58
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:210 → 594
      DUF4503; Domain of unknown function (DUF4503)

    27. NM_001352955.1 → NP_001339884.1  DNA repair-scaffolding protein isoform 22

      Status: VALIDATED

      Description
      Transcript Variant: This variant (29), as well as variants 27, 28, and 30, encodes isoform 22.
      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      UniProtKB/TrEMBL
      H0YBC9
      Conserved Domains (2) summary
      pfam14950
      Location:1 → 58
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:210 → 594
      DUF4503; Domain of unknown function (DUF4503)

    28. NM_001352956.1 → NP_001339885.1  DNA repair-scaffolding protein isoform 22

      Status: VALIDATED

      Description
      Transcript Variant: This variant (30), as well as variants 27, 28, and 29, encodes isoform 22.
      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      UniProtKB/TrEMBL
      H0YBC9
      Conserved Domains (2) summary
      pfam14950
      Location:1 → 58
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:210 → 594
      DUF4503; Domain of unknown function (DUF4503)

    29. NM_001352957.1 → NP_001339886.1  DNA repair-scaffolding protein isoform 23

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      UniProtKB/TrEMBL
      H0YBC9
      Related
      ENSP00000429193.1, ENST00000519401.5
      Conserved Domains (2) summary
      pfam14950
      Location:1 → 58
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:210 → 503
      DUF4503; Domain of unknown function (DUF4503)

    30. NM_001352958.1 → NP_001339887.1  DNA repair-scaffolding protein isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      UniProtKB/TrEMBL
      B4DZY2
      Conserved Domains (1) summary
      pfam14951
      Location:105 → 489
      DUF4503; Domain of unknown function (DUF4503)

    31. NM_001352959.1 → NP_001339888.1  DNA repair-scaffolding protein isoform 25

      Status: VALIDATED

      Source sequence(s)
      AC023991
      UniProtKB/TrEMBL
      B4DWT8, B4DZY2
      Related
      ENST00000519141.5
      Conserved Domains (1) summary
      pfam14951
      Location:26 → 410
      DUF4503; Domain of unknown function (DUF4503)

    32. NM_001352960.1 → NP_001339889.1  DNA repair-scaffolding protein isoform 26

      Status: VALIDATED

      Source sequence(s)
      AC023991
      Consensus CDS
      CCDS87607.1
      UniProtKB/TrEMBL
      B3KP42, B4DZY2
      Related
      ENSP00000427889.1, ENST00000517693.5
      Conserved Domains (1) summary
      pfam14951
      Location:1 → 380
      DUF4503; Domain of unknown function (DUF4503)

    33. NM_001352961.1 → NP_001339890.1  DNA repair-scaffolding protein isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      UniProtKB/TrEMBL
      B4DEV5
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 369
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:521 → 780
      DUF4503; Domain of unknown function (DUF4503)

    RNA

    1. NR_104581.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks several exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC233269, BC031627, BM981420
      Related
      ENST00000524126.5

    2. NR_148202.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269

    3. NR_148203.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269

    4. NR_148204.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269
      Related
      ENST00000522117.5

    5. NR_148205.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC023991, AC024451, AC024649, AC145060, AC233269

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      47260878..47736306
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013268.3 → XP_016868757.1  DNA repair-scaffolding protein isoform X1

    2. XM_011517497.4 → XP_011515799.1  DNA repair-scaffolding protein isoform X5

      UniProtKB/TrEMBL
      B4DEV5
      Conserved Domains (2) summary
      pfam14950
      Location:11 → 369
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:521 → 870
      DUF4503; Domain of unknown function (DUF4503)

    3. XM_017013269.3 → XP_016868758.1  DNA repair-scaffolding protein isoform X2

    4. XM_047421638.1 → XP_047277594.1  DNA repair-scaffolding protein isoform X4

    5. XM_047421643.1 → XP_047277599.1  DNA repair-scaffolding protein isoform X11

    6. XM_047421641.1 → XP_047277597.1  DNA repair-scaffolding protein isoform X9

    7. XM_017013273.2 → XP_016868762.1  DNA repair-scaffolding protein isoform X12

    8. XM_017013270.3 → XP_016868759.1  DNA repair-scaffolding protein isoform X3

    9. XM_047421644.1 → XP_047277600.1  DNA repair-scaffolding protein isoform X13

    10. XM_047421642.1 → XP_047277598.1  DNA repair-scaffolding protein isoform X10

    11. XM_047421639.1 → XP_047277595.1  DNA repair-scaffolding protein isoform X6

    12. XM_017013271.3 → XP_016868760.1  DNA repair-scaffolding protein isoform X7

      UniProtKB/Swiss-Prot
      Q14159
      Conserved Domains (2) summary
      pfam14950
      Location:3 → 309
      DUF4502; Domain of unknown function (DUF4502)
      pfam14951
      Location:461 → 790
      DUF4503; Domain of unknown function (DUF4503)

    13. XM_047421640.1 → XP_047277596.1  DNA repair-scaffolding protein isoform X8

      Related
      ENST00000521214.5

    14. XM_047421645.1 → XP_047277601.1  DNA repair-scaffolding protein isoform X14

    15. XM_047421650.1 → XP_047277606.1  DNA repair-scaffolding protein isoform X19

    16. XM_047421648.1 → XP_047277604.1  DNA repair-scaffolding protein isoform X17

    17. XM_047421649.1 → XP_047277605.1  DNA repair-scaffolding protein isoform X18

    18. XM_047421647.1 → XP_047277603.1  DNA repair-scaffolding protein isoform X16

    19. XM_047421646.1 → XP_047277602.1  DNA repair-scaffolding protein isoform X15

    20. XM_047421651.1 → XP_047277607.1  DNA repair-scaffolding protein isoform X20

    21. XM_047421652.1 → XP_047277608.1  DNA repair-scaffolding protein isoform X20

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      47636640..48112023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360202.1 → XP_054216177.1  DNA repair-scaffolding protein isoform X1

    2. XM_054360206.1 → XP_054216181.1  DNA repair-scaffolding protein isoform X5

    3. XM_054360203.1 → XP_054216178.1  DNA repair-scaffolding protein isoform X2

    4. XM_054360205.1 → XP_054216180.1  DNA repair-scaffolding protein isoform X4

    5. XM_054360212.1 → XP_054216187.1  DNA repair-scaffolding protein isoform X11

    6. XM_054360210.1 → XP_054216185.1  DNA repair-scaffolding protein isoform X9

    7. XM_054360213.1 → XP_054216188.1  DNA repair-scaffolding protein isoform X12

    8. XM_054360204.1 → XP_054216179.1  DNA repair-scaffolding protein isoform X3

    9. XM_054360214.1 → XP_054216189.1  DNA repair-scaffolding protein isoform X13

    10. XM_054360211.1 → XP_054216186.1  DNA repair-scaffolding protein isoform X10

    11. XM_054360207.1 → XP_054216182.1  DNA repair-scaffolding protein isoform X6

    12. XM_054360208.1 → XP_054216183.1  DNA repair-scaffolding protein isoform X7

    13. XM_054360209.1 → XP_054216184.1  DNA repair-scaffolding protein isoform X8

    14. XM_054360215.1 → XP_054216190.1  DNA repair-scaffolding protein isoform X14

    15. XM_054360221.1 → XP_054216196.1  DNA repair-scaffolding protein isoform X19

    16. XM_054360218.1 → XP_054216193.1  DNA repair-scaffolding protein isoform X17

    17. XM_054360219.1 → XP_054216194.1  DNA repair-scaffolding protein isoform X18

    18. XM_054360217.1 → XP_054216192.1  DNA repair-scaffolding protein isoform X16

    19. XM_054360216.1 → XP_054216191.1  DNA repair-scaffolding protein isoform X15

    20. XM_054360220.1 → XP_054216195.1  DNA repair-scaffolding protein isoform X20

    21. XM_054360222.1 → XP_054216197.1  DNA repair-scaffolding protein isoform X20

    22. XM_054360223.1 → XP_054216198.1  DNA repair-scaffolding protein isoform X20

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14159.2 GenPept UniProtKB/Swiss-Prot:Q14159

    Gene LinkOut

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