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FANCI FA complementation group I [ Homo sapiens (human) ]

Gene ID: 55215, updated on 3-Apr-2024

Summary

Official Symbol
FANCIprovided by HGNC
Official Full Name
FA complementation group Iprovided by HGNC
Primary source
HGNC:HGNC:25568
See related
Ensembl:ENSG00000140525 MIM:611360; AllianceGenome:HGNC:25568
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
KIAA1794
Summary
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Broad expression in testis (RPKM 20.6), lymph node (RPKM 12.1) and 23 other tissues See more
Orthologs
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Genomic context

See FANCI in Genome Data Viewer
Location:
15q26.1
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89243979..89317259)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86998773..87072086)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89787210..89860490)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 2, acylglycerol lipase Neighboring gene vesicle-associated membrane protein-associated protein A-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10044 Neighboring gene retinaldehyde binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10045 Neighboring gene uncharacterized LOC124903548 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89848389-89848616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10046 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89877323-89877824 Neighboring gene POLG alternative reading frame Neighboring gene tRNA-Arg (anticodon TCG) 1-1 Neighboring gene microRNA 6766 Neighboring gene DNA polymerase gamma, catalytic subunit Neighboring gene POLG divergent transcript

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ10719

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA polymerase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables DNA polymerase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in interstrand cross-link repair NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within positive regulation of protein ubiquitination 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 
part_of chromatin NAS
Non-traceable Author Statement
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
Fanconi anemia group I protein
Names
Fanconi anemia complementation group I

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_011736.1 RefSeqGene

    Range
    5001..78169
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_500

mRNA and Protein(s)

  1. NM_001113378.2NP_001106849.1  Fanconi anemia group I protein isoform 1

    See identical proteins and their annotated locations for NP_001106849.1

    Status: REVIEWED

    Source sequence(s)
    AC124068, BU187299, EF567077
    Consensus CDS
    CCDS45346.1
    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
    UniProtKB/TrEMBL
    B7ZMF2
    Related
    ENSP00000310842.8, ENST00000310775.12
    Conserved Domains (2) summary
    cd11720
    Location:431290
    FANCI; Fanconi anemia I protein
    pfam14674
    Location:153
    FANCI_S1-cap; FANCI solenoid 1 cap
  2. NM_001376910.1NP_001363839.1  Fanconi anemia group I protein isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC124068, KF459561
    Consensus CDS
    CCDS92061.1
    UniProtKB/TrEMBL
    A0A8Q3SIW9, A0A8Q3SIZ6
    Related
    ENSP00000512830.1, ENST00000696717.1
    Conserved Domains (1) summary
    cd11720
    Location:11197
    FANCI; Fanconi anemia I protein
  3. NM_001376911.1NP_001363840.1  Fanconi anemia group I protein isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1 and 4 encode the same isoform.
    Source sequence(s)
    AC124068, KF459561
    Consensus CDS
    CCDS45346.1
    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
    UniProtKB/TrEMBL
    B7ZMF2
    Related
    ENSP00000512832.1, ENST00000696719.1
    Conserved Domains (2) summary
    cd11720
    Location:431290
    FANCI; Fanconi anemia I protein
    pfam14674
    Location:153
    FANCI_S1-cap; FANCI solenoid 1 cap
  4. NM_018193.3NP_060663.2  Fanconi anemia group I protein isoform 2

    See identical proteins and their annotated locations for NP_060663.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the coding region compared to variant 1. The encoded isoform (2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC124068, AK027564, AK055176, BM461935, BQ050477, BU187299, CN365698
    Consensus CDS
    CCDS10349.2
    UniProtKB/TrEMBL
    B7ZMF2
    Related
    ENSP00000300027.8, ENST00000300027.12
    Conserved Domains (2) summary
    cd11720
    Location:431230
    FANCI; Fanconi anemia I protein
    pfam14674
    Location:153
    FANCI_S1-cap; FANCI solenoid 1 cap

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    89243979..89317259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432789.1XP_047288745.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  2. XM_047432806.1XP_047288762.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  3. XM_047432815.1XP_047288771.1  Fanconi anemia group I protein isoform X3

  4. XM_047432826.1XP_047288782.1  Fanconi anemia group I protein isoform X4

  5. XM_047432798.1XP_047288754.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  6. XM_047432819.1XP_047288775.1  Fanconi anemia group I protein isoform X3

  7. XM_047432827.1XP_047288783.1  Fanconi anemia group I protein isoform X4

  8. XM_047432800.1XP_047288756.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  9. XM_047432795.1XP_047288751.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  10. XM_047432811.1XP_047288767.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  11. XM_047432814.1XP_047288770.1  Fanconi anemia group I protein isoform X3

  12. XM_047432828.1XP_047288784.1  Fanconi anemia group I protein isoform X4

  13. XM_047432793.1XP_047288749.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  14. XM_047432805.1XP_047288761.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  15. XM_047432821.1XP_047288777.1  Fanconi anemia group I protein isoform X3

  16. XM_047432830.1XP_047288786.1  Fanconi anemia group I protein isoform X4

  17. XM_047432790.1XP_047288746.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  18. XM_047432808.1XP_047288764.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  19. XM_047432816.1XP_047288772.1  Fanconi anemia group I protein isoform X3

  20. XM_047432831.1XP_047288787.1  Fanconi anemia group I protein isoform X4

  21. XM_011521756.3XP_011520058.1  Fanconi anemia group I protein isoform X1

    See identical proteins and their annotated locations for XP_011520058.1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
    UniProtKB/TrEMBL
    B7ZMF2
    Conserved Domains (2) summary
    cd11720
    Location:431290
    FANCI; Fanconi anemia I protein
    pfam14674
    Location:153
    FANCI_S1-cap; FANCI solenoid 1 cap
  22. XM_047432802.1XP_047288758.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  23. XM_011521764.3XP_011520066.1  Fanconi anemia group I protein isoform X3

    See identical proteins and their annotated locations for XP_011520066.1

    UniProtKB/TrEMBL
    B7ZMF2
    Conserved Domains (2) summary
    cd11720
    Location:431230
    FANCI; Fanconi anemia I protein
    pfam14674
    Location:153
    FANCI_S1-cap; FANCI solenoid 1 cap
  24. XM_047432824.1XP_047288780.1  Fanconi anemia group I protein isoform X4

  25. XM_047432799.1XP_047288755.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  26. XM_047432796.1XP_047288752.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  27. XM_047432812.1XP_047288768.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
    Related
    ENSP00000502254.1, ENST00000676003.1
  28. XM_047432818.1XP_047288774.1  Fanconi anemia group I protein isoform X3

  29. XM_047432833.1XP_047288789.1  Fanconi anemia group I protein isoform X4

  30. XM_047432794.1XP_047288750.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  31. XM_047432809.1XP_047288765.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  32. XM_047432822.1XP_047288778.1  Fanconi anemia group I protein isoform X3

  33. XM_047432804.1XP_047288760.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  34. XM_047432813.1XP_047288769.1  Fanconi anemia group I protein isoform X3

  35. XM_047432825.1XP_047288781.1  Fanconi anemia group I protein isoform X4

  36. XM_047432801.1XP_047288757.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  37. XM_047432832.1XP_047288788.1  Fanconi anemia group I protein isoform X4

  38. XM_047432792.1XP_047288748.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  39. XM_047432810.1XP_047288766.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  40. XM_047432820.1XP_047288776.1  Fanconi anemia group I protein isoform X3

  41. XM_047432791.1XP_047288747.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  42. XM_047432807.1XP_047288763.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  43. XM_047432817.1XP_047288773.1  Fanconi anemia group I protein isoform X3

  44. XM_047432829.1XP_047288785.1  Fanconi anemia group I protein isoform X4

  45. XM_047432803.1XP_047288759.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  46. XM_047432823.1XP_047288779.1  Fanconi anemia group I protein isoform X4

  47. XM_047432797.1XP_047288753.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    86998773..87072086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378369.1XP_054234344.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  2. XM_054378371.1XP_054234346.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  3. XM_054378389.1XP_054234364.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  4. XM_054378398.1XP_054234373.1  Fanconi anemia group I protein isoform X3

  5. XM_054378413.1XP_054234388.1  Fanconi anemia group I protein isoform X4

  6. XM_054378394.1XP_054234369.1  Fanconi anemia group I protein isoform X3

  7. XM_054378383.1XP_054234358.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  8. XM_054378406.1XP_054234381.1  Fanconi anemia group I protein isoform X4

  9. XM_054378381.1XP_054234356.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  10. XM_054378376.1XP_054234351.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  11. XM_054378396.1XP_054234371.1  Fanconi anemia group I protein isoform X3

  12. XM_054378410.1XP_054234385.1  Fanconi anemia group I protein isoform X4

  13. XM_054378380.1XP_054234355.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  14. XM_054378377.1XP_054234352.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  15. XM_054378393.1XP_054234368.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  16. XM_054378400.1XP_054234375.1  Fanconi anemia group I protein isoform X3

  17. XM_054378415.1XP_054234390.1  Fanconi anemia group I protein isoform X4

  18. XM_054378375.1XP_054234350.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  19. XM_054378390.1XP_054234365.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  20. XM_054378404.1XP_054234379.1  Fanconi anemia group I protein isoform X3

  21. XM_054378385.1XP_054234360.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  22. XM_054378395.1XP_054234370.1  Fanconi anemia group I protein isoform X3

  23. XM_054378407.1XP_054234382.1  Fanconi anemia group I protein isoform X4

  24. XM_054378382.1XP_054234357.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  25. XM_054378414.1XP_054234389.1  Fanconi anemia group I protein isoform X4

  26. XM_054378373.1XP_054234348.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  27. XM_054378391.1XP_054234366.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  28. XM_054378402.1XP_054234377.1  Fanconi anemia group I protein isoform X3

  29. XM_054378372.1XP_054234347.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  30. XM_054378388.1XP_054234363.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  31. XM_054378399.1XP_054234374.1  Fanconi anemia group I protein isoform X3

  32. XM_054378411.1XP_054234386.1  Fanconi anemia group I protein isoform X4

  33. XM_054378384.1XP_054234359.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  34. XM_054378405.1XP_054234380.1  Fanconi anemia group I protein isoform X4

  35. XM_054378409.1XP_054234384.1  Fanconi anemia group I protein isoform X4

  36. XM_054378392.1XP_054234367.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  37. XM_054378370.1XP_054234345.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  38. XM_054378387.1XP_054234362.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  39. XM_054378397.1XP_054234372.1  Fanconi anemia group I protein isoform X3

  40. XM_054378408.1XP_054234383.1  Fanconi anemia group I protein isoform X4

  41. XM_054378401.1XP_054234376.1  Fanconi anemia group I protein isoform X3

  42. XM_054378379.1XP_054234354.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  43. XM_054378378.1XP_054234353.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  44. XM_054378374.1XP_054234349.1  Fanconi anemia group I protein isoform X1

    UniProtKB/Swiss-Prot
    A4ZVE4, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96, Q9NVI1
  45. XM_054378386.1XP_054234361.1  Fanconi anemia group I protein isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PGF4
  46. XM_054378403.1XP_054234378.1  Fanconi anemia group I protein isoform X3

  47. XM_054378412.1XP_054234387.1  Fanconi anemia group I protein isoform X4