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AHDC1 AT-hook DNA binding motif containing 1 [ Homo sapiens (human) ]

Gene ID: 27245, updated on 7-Apr-2024

Summary

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Official Symbol
AHDC1provided by HGNC
Official Full Name
AT-hook DNA binding motif containing 1provided by HGNC
Primary source
HGNC:HGNC:25230
See related
Ensembl:ENSG00000126705 MIM:615790; AllianceGenome:HGNC:25230
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
MRD25; XIGIS
Summary
This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]
Expression
Ubiquitous expression in spleen (RPKM 6.6), endometrium (RPKM 6.1) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See AHDC1 in Genome Data Viewer
Location:
1p36.11-p35.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27534245..27604227, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (27375551..27445533, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27860756..27930655, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 549 Neighboring gene WASP family member 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27756559-27757532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27816920-27817464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27817465-27818009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27830147-27830734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27830735-27831320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27831321-27831907 Neighboring gene uncharacterized LOC105376892 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27849319-27849901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27851813-27852451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27855359-27856073 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27864051-27864652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27869009-27869527 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27869528-27870045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27881926-27882481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27889385-27890112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27907956-27908485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27918399-27918972 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27919547-27920120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27920121-27920694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27922307-27922832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27922833-27923358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27924447-27925402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27925403-27926360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27926361-27927316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27928027-27928623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 524 Neighboring gene Sharpr-MPRA regulatory region 12291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27939571-27940071 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27941009-27941556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27950023-27950844 Neighboring gene Sharpr-MPRA regulatory region 6936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27958413-27958913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 564 Neighboring gene FGR proto-oncogene, Src family tyrosine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 565 Neighboring gene uncharacterized LOC729973

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. Xia-Gibbs Syndrome. Adam MP, et al. , 1993. PMID 34902026
  2. Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1. Faergeman SL, et al. Eur J Med Genet, 2021 Sep. PMID 34229113
  3. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Khayat MM, et al. Hum Mutat, 2021 May. PMID 33644933, Free PMC Article
  4. Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea. Yang S, et al. Biomed Res Int, 2019. PMID 31737670, Free PMC Article
  5. Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency. Cheng X, et al. Mol Genet Genomic Med, 2019 Apr. PMID 30729726, Free PMC Article

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing's sarcoma cells.
    Title: AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing's sarcoma cells.
  2. Gibbin mesodermal regulation patterns epithelial development.
    Title: Gibbin mesodermal regulation patterns epithelial development.
  3. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
    Title: Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
  4. Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
    Title: Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
  5. Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
    Title: Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
  6. we unveiled that LINC01133 may function as a ceRNA for miR-4784 to advance AHDC1 expression, intensifying CC cell malignant phenotypes and EMT process, which may demonstrate the implied value of LINC01133 as a therapeutic target for CC patients.
    Title: LINC01133 promotes the progression of cervical cancer by sponging miR-4784 to up-regulate AHDC1.
  7. Three rare mutations of AHDC1 in patients with OSA in Chinese Hanindividuals.
    Title: Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea.
  8. De novo heterozygous variants in AHDC1 gene were identified in two patients with partial growth hormone deficiency.
    Title: Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.
  9. this study hasidentified AHDC1 de novo truncating mutations that most likely cause syndromic expressive language delay, hypotonia, and sleep apnea.
    Title: De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-02-28)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2018-02-28)

ClinGen Genome Curation PagePubMed

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables promoter-enhancer loop anchoring activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in mesoderm formation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in skin morphogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transcription factor Gibbin
Names
AT-hook DNA-binding motif-containing protein 1

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_034158.1 RefSeqGene

    Range
    4351..74250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001029882.3 → NP_001025053.1  transcription factor Gibbin

    See identical proteins and their annotated locations for NP_001025053.1

    Status: REVIEWED

    Source sequence(s)
    AL031729, BC002677, BC064935, BM989685
    Consensus CDS
    CCDS30652.1
    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    Related
    ENSP00000363123.2, ENST00000374011.6
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  2. NM_001371928.1 → NP_001358857.1  transcription factor Gibbin

    Status: REVIEWED

    Source sequence(s)
    AL031729
    Consensus CDS
    CCDS30652.1
    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    Related
    ENSP00000501218.1, ENST00000673934.1
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    27534245..27604227 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418019.1 → XP_047273975.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  2. XM_047418022.1 → XP_047273978.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  3. XM_047418017.1 → XP_047273973.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    Related
    ENSP00000494394.1, ENST00000642416.1

  4. XM_011541255.2 → XP_011539557.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_011539557.1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  5. XM_047418013.1 → XP_047273969.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  6. XM_047418021.1 → XP_047273977.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  7. XM_047418011.1 → XP_047273967.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  8. XM_047418014.1 → XP_047273970.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  9. XM_047418018.1 → XP_047273974.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  10. XM_005245851.4 → XP_005245908.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_005245908.1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    Related
    ENSP00000495072.1, ENST00000642245.1
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  11. XM_047418012.1 → XP_047273968.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  12. XM_047418016.1 → XP_047273972.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  13. XM_005245852.4 → XP_005245909.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_005245909.1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  14. XM_005245849.4 → XP_005245906.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_005245906.1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  15. XM_011541256.3 → XP_011539558.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_011539558.1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  16. XM_005245850.4 → XP_005245907.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_005245907.1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  17. XM_047418020.1 → XP_047273976.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  18. XM_011541257.3 → XP_011539559.1  transcription factor Gibbin isoform X1

    See identical proteins and their annotated locations for XP_011539559.1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
    Conserved Domains (2) summary
    PRK12323
    Location:856 → 1052
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam15735
    Location:594 → 642
    DUF4683; Domain of unknown function (DUF4683)

  19. XM_047418023.1 → XP_047273979.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  20. XM_047418010.1 → XP_047273966.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

  21. XM_047418015.1 → XP_047273971.1  transcription factor Gibbin isoform X1

    UniProtKB/Swiss-Prot
    Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5

RNA

  1. XR_007059184.1 RNA Sequence

  2. XR_007059182.1 RNA Sequence

  3. XR_007059183.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    27375551..27445533 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336031.1 → XP_054192006.1  transcription factor Gibbin isoform X1

  2. XM_054336035.1 → XP_054192010.1  transcription factor Gibbin isoform X1

  3. XM_054336029.1 → XP_054192004.1  transcription factor Gibbin isoform X1

  4. XM_054336018.1 → XP_054191993.1  transcription factor Gibbin isoform X1

  5. XM_054336024.1 → XP_054191999.1  transcription factor Gibbin isoform X1

  6. XM_054336034.1 → XP_054192009.1  transcription factor Gibbin isoform X1

  7. XM_054336022.1 → XP_054191997.1  transcription factor Gibbin isoform X1

  8. XM_054336025.1 → XP_054192000.1  transcription factor Gibbin isoform X1

  9. XM_054336030.1 → XP_054192005.1  transcription factor Gibbin isoform X1

  10. XM_054336017.1 → XP_054191992.1  transcription factor Gibbin isoform X1

  11. XM_054336033.1 → XP_054192008.1  transcription factor Gibbin isoform X1

  12. XM_054336027.1 → XP_054192002.1  transcription factor Gibbin isoform X1

  13. XM_054336028.1 → XP_054192003.1  transcription factor Gibbin isoform X1

  14. XM_054336020.1 → XP_054191995.1  transcription factor Gibbin isoform X1

  15. XM_054336023.1 → XP_054191998.1  transcription factor Gibbin isoform X1

  16. XM_054336019.1 → XP_054191994.1  transcription factor Gibbin isoform X1

  17. XM_054336032.1 → XP_054192007.1  transcription factor Gibbin isoform X1

  18. XM_054336036.1 → XP_054192011.1  transcription factor Gibbin isoform X1

  19. XM_054336021.1 → XP_054191996.1  transcription factor Gibbin isoform X1

  20. XM_054336026.1 → XP_054192001.1  transcription factor Gibbin isoform X1

RNA

  1. XR_008486000.1 RNA Sequence

  2. XR_008485998.1 RNA Sequence

  3. XR_008485999.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5TGY3.1 GenPept UniProtKB/Swiss-Prot:Q5TGY3

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