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    ZBTB44 zinc finger and BTB domain containing 44 [ Homo sapiens (human) ]

    Gene ID: 29068, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZBTB44provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 44provided by HGNC
    Primary source
    HGNC:HGNC:25001
    See related
    Ensembl:ENSG00000196323 AllianceGenome:HGNC:25001
    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
    BTBD15; ZNF851; HSPC063
    Summary
    Predicted to enable DNA binding activity and metal ion binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 15.0), kidney (RPKM 11.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB44 in Genome Data Viewer
    Location:
    11q24.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (130226677..130314917, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (130262483..130350761, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (130096572..130184812, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene amyloid beta precursor like protein 2 Neighboring gene uncharacterized LOC124902850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:129993119-129993620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:129993621-129994120 Neighboring gene Sharpr-MPRA regulatory region 10235 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:130015754-130016953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:130030913-130031412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:130068001-130068502 Neighboring gene ST14 transmembrane serine protease matriptase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:130079505-130080004 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:130165506-130166038 Neighboring gene NDUFAF2 pseudogene 2 Neighboring gene uncharacterized LOC124902848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4081 Neighboring gene DEAD-box helicase 18 pseudogene 5 Neighboring gene RNA, 7SL, cytoplasmic 778, pseudogene Neighboring gene ZBTB44 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr11:130240792-130241293 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:130248135-130248650 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:130253373-130253917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:130289647-130290148 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 8

    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. Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epithelium. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107412
    2. Mapping the interactome of HPV E6 and E7 oncoproteins with the ubiquitin-proteasome system. Poirson J, et al. FEBS J, 2017 Oct. PMID 28786561
    3. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. Zhang QH, et al. Genome Res, 2000 Oct. PMID 11042152, Free PMC Article
    4. The functional interactome of PYHIN immune regulators reveals IFIX is a sensor of viral DNA. Diner BA, et al. Mol Syst Biol, 2015 Feb 9. PMID 25665578, Free PMC Article
    5. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26123, MGC57431, MGC60348, MGC88058

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 44
    Names
    BTB (POZ) domain containing 15
    BTB/POZ domain-containing protein 15
    zinc finger protein 851

    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_001301098.2 → NP_001288027.1  zinc finger and BTB domain-containing protein 44 isoform 1

      See identical proteins and their annotated locations for NP_001288027.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC019227, AP001183, AP002986, BC030580, BC049375
      Consensus CDS
      CCDS73414.1
      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5
      UniProtKB/TrEMBL
      H7BY22
      Related
      ENSP00000350574.4, ENST00000357899.9
      Conserved Domains (5) summary
      COG5048
      Location:383 → 449
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:401 → 421
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:489 → 511
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18228
      Location:15 → 130
      BTB_POZ_ZBTB44; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 44 (ZBTB44)
      pfam13465
      Location:413 → 438
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001301099.2 → NP_001288028.1  zinc finger and BTB domain-containing protein 44 isoform 2

      See identical proteins and their annotated locations for NP_001288028.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice junction at the 3' end of an exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2 and 8 both encode the same isoform (2).
      Source sequence(s)
      AC019227, AP001183, AP002986, BC030580, BC049375, BC050723
      Consensus CDS
      CCDS73415.1
      UniProtKB/Swiss-Prot
      Q8NCP5
      Related
      ENSP00000434177.1, ENST00000530205.5
      Conserved Domains (4) summary
      COG5048
      Location:383 → 449
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:401 → 421
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:413 → 438
      zf-H2C2_2; Zinc-finger double domain
      cd18228
      Location:15 → 130
      BTB_POZ_ZBTB44; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 44 (ZBTB44)

    3. NM_001370219.1 → NP_001357148.1  zinc finger and BTB domain-containing protein 44 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
      Source sequence(s)
      AC019227, AP001183, AP002986
      Consensus CDS
      CCDS91625.1
      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5
      UniProtKB/TrEMBL
      H0YEM9
      Related
      ENSP00000436187.2, ENST00000527478.6
      Conserved Domains (6) summary
      COG5048
      Location:383 → 449
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:401 → 421
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:489 → 511
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:487 → 508
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:413 → 438
      zf-H2C2_2; Zinc-finger double domain
      cd18228
      Location:15 → 130
      BTB_POZ_ZBTB44; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 44 (ZBTB44)

    4. NM_001370220.1 → NP_001357149.1  zinc finger and BTB domain-containing protein 44 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC019227, AP001183, AP002986
      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5
      Conserved Domains (6) summary
      COG5048
      Location:350 → 431
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:383 → 403
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:471 → 493
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:469 → 490
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:395 → 420
      zf-H2C2_2; Zinc-finger double domain
      cd18228
      Location:15 → 130
      BTB_POZ_ZBTB44; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 44 (ZBTB44)

    5. NM_001370221.1 → NP_001357150.1  zinc finger and BTB domain-containing protein 44 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC019227, AP001183, AP002986
      Conserved Domains (4) summary
      COG5048
      Location:350 → 431
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:383 → 403
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18228
      Location:15 → 130
      BTB_POZ_ZBTB44; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 44 (ZBTB44)
      pfam13465
      Location:395 → 420
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001370222.1 → NP_001357151.1  zinc finger and BTB domain-containing protein 44 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC019227, AP001183, AP002986
      Conserved Domains (2) summary
      sd00017
      Location:12 → 32
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:10 → 32
      zf-C2H2; Zinc finger, C2H2 type

    7. NM_001370223.1 → NP_001357152.1  zinc finger and BTB domain-containing protein 44 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variant 2, encodes isoform 2.
      Source sequence(s)
      AC019227, AK024659, AP001183, AP002986
      Consensus CDS
      CCDS73415.1
      Conserved Domains (4) summary
      COG5048
      Location:383 → 449
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:401 → 421
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:413 → 438
      zf-H2C2_2; Zinc-finger double domain
      cd18228
      Location:15 → 130
      BTB_POZ_ZBTB44; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 44 (ZBTB44)

    8. NM_014155.5 → NP_054874.3  zinc finger and BTB domain-containing protein 44 isoform 3

      See identical proteins and their annotated locations for NP_054874.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) retains two alternate introns and uses an alternate splice junction at the 3' end of an exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC019227, AI446067, AP001183, AP002986, BC071729, CD671410
      Consensus CDS
      CCDS44776.1
      UniProtKB/Swiss-Prot
      Q8NCP5
      Related
      ENSP00000433457.1, ENST00000525842.5
      Conserved Domains (4) summary
      COG5048
      Location:383 → 449
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:401 → 421
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18228
      Location:15 → 130
      BTB_POZ_ZBTB44; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 44 (ZBTB44)
      pfam13465
      Location:413 → 438
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_163264.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC019227, AP001183, AP002986, BC049375
      Related
      ENST00000445008.6

    2. NR_163265.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC019227, AP001183, AP002986

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      130226677..130314917 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426848.1 → XP_047282804.1  zinc finger and BTB domain-containing protein 44 isoform X7

      Conserved Domains (2) summary
      sd00017
      Location:12 → 32
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:10 → 32
      zf-C2H2; Zinc finger, C2H2 type

    2. XM_047426846.1 → XP_047282802.1  zinc finger and BTB domain-containing protein 44 isoform X4

    3. XM_047426845.1 → XP_047282801.1  zinc finger and BTB domain-containing protein 44 isoform X4

    4. XM_006718826.5 → XP_006718889.1  zinc finger and BTB domain-containing protein 44 isoform X6

      Conserved Domains (6) summary
      smart00225
      Location:32 → 128
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:351 → 432
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:384 → 404
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:382 → 404
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:21 → 125
      BTB; BTB/POZ domain
      pfam13465
      Location:396 → 421
      zf-H2C2_2; Zinc-finger double domain

    5. XM_006718825.5 → XP_006718888.1  zinc finger and BTB domain-containing protein 44 isoform X2

      See identical proteins and their annotated locations for XP_006718888.1

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5
      Conserved Domains (7) summary
      smart00225
      Location:32 → 128
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:351 → 432
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:384 → 404
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:472 → 494
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:382 → 404
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:21 → 125
      BTB; BTB/POZ domain
      pfam13465
      Location:396 → 421
      zf-H2C2_2; Zinc-finger double domain

    6. XM_024448456.2 → XP_024304224.1  zinc finger and BTB domain-containing protein 44 isoform X3

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5
      UniProtKB/TrEMBL
      H7BY22
      Conserved Domains (5) summary
      COG5048
      Location:383 → 449
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:401 → 421
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:489 → 511
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18228
      Location:15 → 130
      BTB_POZ_ZBTB44; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 44 (ZBTB44)
      pfam13465
      Location:413 → 438
      zf-H2C2_2; Zinc-finger double domain

    7. XM_047426847.1 → XP_047282803.1  zinc finger and BTB domain-containing protein 44 isoform X5

    8. XM_047426844.1 → XP_047282800.1  zinc finger and BTB domain-containing protein 44 isoform X3

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5
      UniProtKB/TrEMBL
      H7BY22

    9. XM_047426841.1 → XP_047282797.1  zinc finger and BTB domain-containing protein 44 isoform X1

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5
      UniProtKB/TrEMBL
      H0YEM9

    10. XM_047426843.1 → XP_047282799.1  zinc finger and BTB domain-containing protein 44 isoform X2

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5

    11. XM_047426842.1 → XP_047282798.1  zinc finger and BTB domain-containing protein 44 isoform X1

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5
      UniProtKB/TrEMBL
      H0YEM9

    RNA

    1. XR_007062477.1 RNA Sequence

    2. XR_007062476.1 RNA Sequence

    3. XR_246421.6 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      130262483..130350761 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368584.1 → XP_054224559.1  zinc finger and BTB domain-containing protein 44 isoform X7

    2. XM_054368581.1 → XP_054224556.1  zinc finger and BTB domain-containing protein 44 isoform X4

    3. XM_054368580.1 → XP_054224555.1  zinc finger and BTB domain-containing protein 44 isoform X4

    4. XM_054368583.1 → XP_054224558.1  zinc finger and BTB domain-containing protein 44 isoform X6

    5. XM_054368576.1 → XP_054224551.1  zinc finger and BTB domain-containing protein 44 isoform X2

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5

    6. XM_054368578.1 → XP_054224553.1  zinc finger and BTB domain-containing protein 44 isoform X3

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5

    7. XM_054368579.1 → XP_054224554.1  zinc finger and BTB domain-containing protein 44 isoform X3

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5

    8. XM_054368582.1 → XP_054224557.1  zinc finger and BTB domain-containing protein 44 isoform X5

    9. XM_054368574.1 → XP_054224549.1  zinc finger and BTB domain-containing protein 44 isoform X1

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5

    10. XM_054368577.1 → XP_054224552.1  zinc finger and BTB domain-containing protein 44 isoform X2

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5

    11. XM_054368575.1 → XP_054224550.1  zinc finger and BTB domain-containing protein 44 isoform X1

      UniProtKB/Swiss-Prot
      Q6IPT8, Q86VJ7, Q86XX5, Q8NCP5

    RNA

    1. XR_008488388.1 RNA Sequence

    2. XR_008488387.1 RNA Sequence

    3. XR_008488386.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCP5.1 GenPept UniProtKB/Swiss-Prot:Q8NCP5

    Gene LinkOut

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

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