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

Gene ID: 29068, updated on 3-Apr-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 15.0), kidney (RPKM 11.4) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (130226677..130314917, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (130262483..130350761, complement)
105.20220307 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 (21) 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)

Genotypes

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_2023_10

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/TrEMBL
    H7BY22

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

    UniProtKB/TrEMBL
    H0YEM9

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

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

    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

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

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

  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

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

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

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

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