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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

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