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    KRBA1 KRAB-A domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 84626, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KRBA1provided by HGNC
    Official Full Name
    KRAB-A domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:22228
    See related
    Ensembl:ENSG00000133619 AllianceGenome:HGNC:22228
    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
    Summary
    Predicted to be involved in regulation of DNA-templated transcription. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 3.8), ovary (RPKM 2.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KRBA1 in Genome Data Viewer
    Location:
    7q36.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (149714951..149734575)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (150896867..150916494)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (149412042..149431664)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene tRNA-Cys (anticodon GCA) 17-1 Neighboring gene tRNA-Cys (anticodon GCA) 9-4 Neighboring gene Sharpr-MPRA regulatory region 9729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:149411195-149411694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:149412332-149412964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:149417350-149418244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:149432150-149433066 Neighboring gene uncharacterized LOC124901771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:149438995-149439524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:149463303-149463978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18768 Neighboring gene zinc finger protein 467 Neighboring gene SCO-spondin, pseudogene

    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 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. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2001 Apr 27. PMID 11347906
    2. Interactome mapping of the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway identifies deformed epidermal autoregulatory factor-1 as a new glycogen synthase kinase-3 interactor. Pilot-Storck F, et al. Mol Cell Proteomics, 2010 Jul. PMID 20368287, Free PMC Article
    3. Targeting TRIM37-driven centrosome dysfunction in 17q23-amplified breast cancer. Yeow ZY, et al. Nature, 2020 Sep. PMID 32908313, Free PMC Article
    4. FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia. Zhu XN, et al. J Hematol Oncol, 2023 Feb 11. PMID 36774506, Free PMC Article
    5. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article

    See all (11) 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

    • KIAA1862, MGC176633

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    protein KRBA1

    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_029620.2 RefSeqGene

      Range
      5002..24626
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290187.2 → NP_001277116.1  protein KRBA1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (2).
      Source sequence(s)
      AC004897, AL831935, BC142722, BC150330
      Consensus CDS
      CCDS78285.1
      UniProtKB/TrEMBL
      A0A090N8F5, A0A0C4DH65
      Related
      ENSP00000418647.3, ENST00000496259.6
      Conserved Domains (3) summary
      smart00349
      Location:8 → 64
      KRAB; krueppel associated box
      pfam01352
      Location:8 → 46
      KRAB; KRAB box
      pfam15287
      Location:229 → 271
      KRBA1; KRBA1 family repeat

    2. NM_001394478.1 → NP_001381407.1  protein KRBA1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC004897, KF459639
      UniProtKB/TrEMBL
      A0A090N8F5
      Conserved Domains (2) summary
      cd07765
      Location:7 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      PHA03247
      Location:128 → 573
      PHA03247; large tegument protein UL36; Provisional

    3. NM_001394479.1 → NP_001381408.1  protein KRBA1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC004897, KF459639
      UniProtKB/TrEMBL
      A0A090N8F5
      Conserved Domains (1) summary
      cd07765
      Location:7 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    4. NM_001394480.1 → NP_001381409.1  protein KRBA1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC004897, KF459639
      UniProtKB/TrEMBL
      A0A090N8F5
      Conserved Domains (1) summary
      cd07765
      Location:7 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    5. NM_001394481.1 → NP_001381410.1  protein KRBA1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC004897, KF459639
      UniProtKB/TrEMBL
      A0A090N8F5
      Conserved Domains (2) summary
      cd07765
      Location:7 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      PHA03247
      Location:113 → 542
      PHA03247; large tegument protein UL36; Provisional

    6. NM_001394482.1 → NP_001381411.1  protein KRBA1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC004897, KF459639
      UniProtKB/TrEMBL
      A0A090N8F5
      Conserved Domains (1) summary
      PHA03247
      Location:93 → 522
      PHA03247; large tegument protein UL36; Provisional

    7. NM_001394483.1 → NP_001381412.1  protein KRBA1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC004897, KF459639
      UniProtKB/TrEMBL
      A0A090N8F5
      Conserved Domains (1) summary
      PHA03247
      Location:93 → 522
      PHA03247; large tegument protein UL36; Provisional

    8. NM_001394484.1 → NP_001381413.1  protein KRBA1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC004897
      UniProtKB/TrEMBL
      A0A090N8F5
      Conserved Domains (2) summary
      cd07765
      Location:7 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      PHA03247
      Location:128 → 586
      PHA03247; large tegument protein UL36; Provisional

    9. NM_001394485.1 → NP_001381414.1  protein KRBA1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC004897
      Consensus CDS
      CCDS94228.1
      UniProtKB/TrEMBL
      A0A090N8F5
      Related
      ENSP00000420112.2, ENST00000485033.6
      Conserved Domains (1) summary
      PHA03247
      Location:341 → 803
      PHA03247; large tegument protein UL36; Provisional

    10. NM_001394486.1 → NP_001381415.1  protein KRBA1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC004897, KF459639
      Conserved Domains (2) summary
      cd07765
      Location:7 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      PHA03247
      Location:137 → 558
      PHA03247; large tegument protein UL36; Provisional

    11. NM_001394487.1 → NP_001381416.1  protein KRBA1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC004897, KF459639
      Conserved Domains (2) summary
      cd07765
      Location:7 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      PHA03247
      Location:128 → 557
      PHA03247; large tegument protein UL36; Provisional

    12. NM_001394488.1 → NP_001381417.1  protein KRBA1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC004897, KF459639
      UniProtKB/TrEMBL
      A0A087WVC5
      Conserved Domains (1) summary
      PHA03247
      Location:78 → 507
      PHA03247; large tegument protein UL36; Provisional

    13. NM_001394489.1 → NP_001381418.1  protein KRBA1 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC004897
      UniProtKB/TrEMBL
      A0A087WVC5
      Conserved Domains (2) summary
      cd07765
      Location:7 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      PHA03247
      Location:123 → 586
      PHA03247; large tegument protein UL36; Provisional

    14. NM_001394490.1 → NP_001381419.1  protein KRBA1 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC004897
      UniProtKB/TrEMBL
      A0A087WVC5
      Related
      ENSP00000479341.1, ENST00000621069.1
      Conserved Domains (2) summary
      cd07765
      Location:7 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      PHA03247
      Location:108 → 571
      PHA03247; large tegument protein UL36; Provisional

    15. NM_001394491.1 → NP_001381420.1  protein KRBA1 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC004897, KF459639
      UniProtKB/TrEMBL
      A0A090N8F5
      Conserved Domains (2) summary
      cd07765
      Location:44 → 82
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      PHA03247
      Location:150 → 579
      PHA03247; large tegument protein UL36; Provisional

    16. NM_001394492.1 → NP_001381421.1  protein KRBA1 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC004897
      UniProtKB/TrEMBL
      A0A087WVC5

    17. NM_001394493.1 → NP_001381422.1  protein KRBA1 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC004897
      Conserved Domains (1) summary
      cd07765
      Location:7 → 45
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    18. NM_032534.4 → NP_115923.2  protein KRBA1 isoform 1

      See identical proteins and their annotated locations for NP_115923.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in its 5' UTR and uses a downstream start codon, compared to variant 2. The encoded isoform (1) has a shorter N-terminus, compared to isoform 2.
      Source sequence(s)
      AB058765, AC004897, AL831935, BC142722, BC150330
      Consensus CDS
      CCDS75674.1
      UniProtKB/Swiss-Prot
      A5PL33, A7E2F5, E7ENE9, Q8N4X0, Q96JG5
      UniProtKB/TrEMBL
      A0A090N8F5
      Related
      ENSP00000317165.9, ENST00000319551.12
      Conserved Domains (1) summary
      pfam15287
      Location:195 → 237
      KRBA1; KRBA1 family repeat

    RNA

    1. NR_172132.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004897

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      149714951..149734575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420964.1 → XP_047276920.1  protein KRBA1 isoform X1

    2. XM_047420969.1 → XP_047276925.1  protein KRBA1 isoform X6

    3. XM_047420965.1 → XP_047276921.1  protein KRBA1 isoform X2

    4. XM_047420970.1 → XP_047276926.1  protein KRBA1 isoform X7

    5. XM_047420966.1 → XP_047276922.1  protein KRBA1 isoform X3

    6. XM_047420967.1 → XP_047276923.1  protein KRBA1 isoform X4

    7. XM_047420968.1 → XP_047276924.1  protein KRBA1 isoform X5

      UniProtKB/Swiss-Prot
      A5PL33, A7E2F5, E7ENE9, Q8N4X0, Q96JG5

    8. XM_047420971.1 → XP_047276927.1  protein KRBA1 isoform X8

    9. XM_047420972.1 → XP_047276928.1  protein KRBA1 isoform X9

    10. XM_047420973.1 → XP_047276929.1  protein KRBA1 isoform X10

    11. XM_047420974.1 → XP_047276930.1  protein KRBA1 isoform X11

    12. XM_047420975.1 → XP_047276931.1  protein KRBA1 isoform X12

    RNA

    1. XR_007060163.1 RNA Sequence

    2. XR_007060164.1 RNA Sequence

    3. XR_007060165.1 RNA Sequence

    4. XR_007060166.1 RNA Sequence

    5. XR_007060167.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      150896867..150916494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359236.1 → XP_054215211.1  protein KRBA1 isoform X1

    2. XM_054359241.1 → XP_054215216.1  protein KRBA1 isoform X6

    3. XM_054359237.1 → XP_054215212.1  protein KRBA1 isoform X2

    4. XM_054359242.1 → XP_054215217.1  protein KRBA1 isoform X7

    5. XM_054359238.1 → XP_054215213.1  protein KRBA1 isoform X3

    6. XM_054359239.1 → XP_054215214.1  protein KRBA1 isoform X4

    7. XM_054359240.1 → XP_054215215.1  protein KRBA1 isoform X5

    8. XM_054359243.1 → XP_054215218.1  protein KRBA1 isoform X8

    9. XM_054359244.1 → XP_054215219.1  protein KRBA1 isoform X9

    10. XM_054359245.1 → XP_054215220.1  protein KRBA1 isoform X10

    11. XM_054359246.1 → XP_054215221.1  protein KRBA1 isoform X11

    12. XM_054359247.1 → XP_054215222.1  protein KRBA1 isoform X12

    RNA

    1. XR_008487761.1 RNA Sequence

    2. XR_008487762.1 RNA Sequence

    3. XR_008487763.1 RNA Sequence

    4. XR_008487764.1 RNA Sequence

    5. XR_008487765.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A5PL33.3 GenPept UniProtKB/Swiss-Prot:A5PL33

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