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

Gene ID: 84626, updated on 7-Apr-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 transcription, DNA-templated. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 3.8), ovary (RPKM 2.4) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
7q36.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (149714951..149734575)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (150896867..150916494)
105.20220307 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
  • 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. 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
  5. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article

See all (10) 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
  
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_2023_10

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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