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PABIR3 PABIR family member 3 [ Homo sapiens (human) ]

Gene ID: 159091, updated on 3-Apr-2024

Summary

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Official Symbol
PABIR3provided by HGNC
Official Full Name
PABIR family member 3provided by HGNC
Primary source
HGNC:HGNC:25202
See related
Ensembl:ENSG00000156500 AllianceGenome:HGNC:25202
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
FAM122C
Summary
Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in negative regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 1.5), ovary (RPKM 1.4) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
Xq26.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (134796364..134864771)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (133121428..133189846)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (133930394..133998801)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene placenta enriched 1 Neighboring gene ribosomal protein S7 pseudogene 12 Neighboring gene RNA, U4 small nuclear 44, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21014 Neighboring gene PABIR family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:133942169-133943125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21015 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:133966100-133966314 Neighboring gene Sharpr-MPRA regulatory region 6850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21016 Neighboring gene motile sperm domain containing 1 Neighboring gene RNA, U6 small nuclear 616, 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. Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. Hasegawa Y, et al. PLoS Genet, 2015 Aug. PMID 26288249, Free PMC Article
  2. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article
  3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
  4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
  5. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein serine/threonine phosphatase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
PABIR family member 1
Names
family with sequence similarity 122C
protein FAM122C

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_016383.2 RefSeqGene

    Range
    15875..63470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001170779.3 → NP_001164250.1  PABIR family member 1 isoform 1

    See identical proteins and their annotated locations for NP_001164250.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL691477, Z83826
    Consensus CDS
    CCDS55501.1
    UniProtKB/Swiss-Prot
    F5H036, Q6P4D5, Q8WVK9
    Related
    ENSP00000359820.4, ENST00000370784.8

  2. NM_001170780.3 → NP_001164251.1  PABIR family member 1 isoform 3

    See identical proteins and their annotated locations for NP_001164251.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences in the 5' UTR, the 3' UTR, and the coding region, one of which results in frameshift. These differences also result in translation from an alternate start codon. This variant encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AK307219, AL691477, BC016784
    Consensus CDS
    CCDS55500.1
    UniProtKB/Swiss-Prot
    Q6P4D5

  3. NM_001170781.2 → NP_001164252.1  PABIR family member 1 isoform 4

    See identical proteins and their annotated locations for NP_001164252.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (4) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS87777.1
    UniProtKB/TrEMBL
    B3KQY3
    Related
    ENSP00000495200.1, ENST00000475361.1

  4. NM_001170782.2 → NP_001164253.1  PABIR family member 1 isoform 5

    See identical proteins and their annotated locations for NP_001164253.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (5) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL691477
    UniProtKB/TrEMBL
    Q6P187

  5. NM_001170783.2 → NP_001164254.1  PABIR family member 1 isoform 6

    See identical proteins and their annotated locations for NP_001164254.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (6) has a distinct C-terminus and is shorter than isoform 1. Both variants 6 and 7 encode the same isoform (6).
    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS76028.1
    UniProtKB/TrEMBL
    A0A087WU98

  6. NM_001170784.2 → NP_001164255.1  PABIR family member 1 isoform 6

    See identical proteins and their annotated locations for NP_001164255.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (6) has a distinct C-terminus and is shorter than isoform 1. Both variants 6 and 7 encode the same isoform (6).
    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS76028.1
    UniProtKB/TrEMBL
    A0A087WU98
    Related
    ENSP00000485120.1, ENST00000623326.4

  7. NM_001365743.2 → NP_001352672.1  PABIR family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS94669.1
    UniProtKB/TrEMBL
    A0A2R8Y4Q6
    Related
    ENSP00000493993.1, ENST00000645288.1

  8. NM_001365744.3 → NP_001352673.1  PABIR family member 1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826

  9. NM_001365745.2 → NP_001352674.1  PABIR family member 1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826
    Consensus CDS
    CCDS94674.1
    UniProtKB/TrEMBL
    A0A2R8Y466
    Related
    ENSP00000493672.1, ENST00000646004.1

  10. NM_001365746.1 → NP_001352675.1  PABIR family member 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS87777.1
    UniProtKB/TrEMBL
    B3KQY3
    Related
    ENSP00000495775.1, ENST00000482240.5

  11. NM_001365747.2 → NP_001352676.1  PABIR family member 1 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826
    Consensus CDS
    CCDS94671.1
    UniProtKB/TrEMBL
    A0A2R8Y7I3, A0A2R8YGQ0

  12. NM_001365748.2 → NP_001352677.1  PABIR family member 1 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826
    Consensus CDS
    CCDS94673.1
    UniProtKB/TrEMBL
    A0A2R8Y5U9
    Related
    ENSP00000495073.1, ENST00000643150.1

  13. NM_001388440.1 → NP_001375369.1  PABIR family member 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826
    Consensus CDS
    CCDS55501.1
    UniProtKB/Swiss-Prot
    F5H036, Q6P4D5, Q8WVK9

  14. NM_001388441.1 → NP_001375370.1  PABIR family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS55500.1

  15. NM_001388442.1 → NP_001375371.1  PABIR family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS55500.1

  16. NM_001388443.1 → NP_001375372.1  PABIR family member 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS55500.1
    Related
    ENSP00000402477.2, ENST00000414371.6

  17. NM_001388444.1 → NP_001375373.1  PABIR family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS94669.1
    UniProtKB/TrEMBL
    A0A2R8Y4Q6

  18. NM_001388445.1 → NP_001375374.1  PABIR family member 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL691477
    Consensus CDS
    CCDS94669.1
    UniProtKB/TrEMBL
    A0A2R8Y4Q6

  19. NM_001388446.1 → NP_001375375.1  PABIR family member 1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826

  20. NM_001388447.1 → NP_001375376.1  PABIR family member 1 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826
    Consensus CDS
    CCDS94672.1
    UniProtKB/TrEMBL
    A0A2R8Y7S4
    Related
    ENSP00000496338.1, ENST00000645433.2

  21. NM_001388448.1 → NP_001375377.1  PABIR family member 1 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826

  22. NM_001388449.1 → NP_001375378.1  PABIR family member 1 isoform 14

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826

  23. NM_138819.5 → NP_620174.1  PABIR family member 1 isoform 2

    See identical proteins and their annotated locations for NP_620174.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL691477, Z83826
    Consensus CDS
    CCDS14644.1
    UniProtKB/Swiss-Prot
    Q6P4D5
    Related
    ENSP00000359821.3, ENST00000370785.4

RNA

  1. NR_158603.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826

  2. NR_158606.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK295485, BC063491, Z83826
    Related
    ENST00000642481.1

  3. NR_170982.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL691477, Z83826

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    134796364..134864771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262382.2 → XP_005262439.1  PABIR family member 1 isoform X1

    See identical proteins and their annotated locations for XP_005262439.1

  2. XM_011531296.3 → XP_011529598.1  PABIR family member 1 isoform X3

  3. XM_047441878.1 → XP_047297834.1  PABIR family member 1 isoform X5

  4. XM_011531295.2 → XP_011529597.1  PABIR family member 1 isoform X2

  5. XM_024452343.2 → XP_024308111.1  PABIR family member 1 isoform X6

  6. XM_047441877.1 → XP_047297833.1  PABIR family member 1 isoform X4

  7. XM_005262384.5 → XP_005262441.1  PABIR family member 1 isoform X10

  8. XM_005262383.3 → XP_005262440.1  PABIR family member 1 isoform X7

  9. XM_005262386.4 → XP_005262443.1  PABIR family member 1 isoform X12

  10. XM_017029308.2 → XP_016884797.1  PABIR family member 1 isoform X9

  11. XM_047441879.1 → XP_047297835.1  PABIR family member 1 isoform X8

    UniProtKB/TrEMBL
    A0A2R8YFJ9
    Related
    ENSP00000496521.1, ENST00000463842.2

  12. XM_047441880.1 → XP_047297836.1  PABIR family member 1 isoform X13

  13. XM_047441881.1 → XP_047297837.1  PABIR family member 1 isoform X14

    UniProtKB/TrEMBL
    A0A2R8Y7I3
    Related
    ENSP00000496039.1, ENST00000644752.1

  14. XM_011531302.3 → XP_011529604.1  PABIR family member 1 isoform X11

    See identical proteins and their annotated locations for XP_011529604.1

    UniProtKB/TrEMBL
    B4DI96

  15. XM_011531299.2 → XP_011529601.1  PABIR family member 1 isoform X11

    See identical proteins and their annotated locations for XP_011529601.1

    UniProtKB/TrEMBL
    B4DI96

  16. XM_011531301.3 → XP_011529603.1  PABIR family member 1 isoform X11

    See identical proteins and their annotated locations for XP_011529603.1

    UniProtKB/TrEMBL
    B4DI96

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    133121428..133189846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326574.1 → XP_054182549.1  PABIR family member 1 isoform X1

  2. XM_054326578.1 → XP_054182553.1  PABIR family member 1 isoform X3

  3. XM_054326580.1 → XP_054182555.1  PABIR family member 1 isoform X5

  4. XM_054326577.1 → XP_054182552.1  PABIR family member 1 isoform X2

  5. XM_054326581.1 → XP_054182556.1  PABIR family member 1 isoform X6

  6. XM_054326579.1 → XP_054182554.1  PABIR family member 1 isoform X4

  7. XM_054326585.1 → XP_054182560.1  PABIR family member 1 isoform X10

  8. XM_054326582.1 → XP_054182557.1  PABIR family member 1 isoform X7

  9. XM_054326589.1 → XP_054182564.1  PABIR family member 1 isoform X12

  10. XM_054326584.1 → XP_054182559.1  PABIR family member 1 isoform X9

  11. XM_054326583.1 → XP_054182558.1  PABIR family member 1 isoform X8

    UniProtKB/TrEMBL
    A0A2R8YFJ9

  12. XM_054326590.1 → XP_054182565.1  PABIR family member 1 isoform X13

  13. XM_054326576.1 → XP_054182551.1  PABIR family member 1 isoform X1

  14. XM_054326575.1 → XP_054182550.1  PABIR family member 1 isoform X1

  15. XM_054326591.1 → XP_054182566.1  PABIR family member 1 isoform X14

    UniProtKB/TrEMBL
    A0A2R8Y7I3

  16. XM_054326588.1 → XP_054182563.1  PABIR family member 1 isoform X11

    UniProtKB/TrEMBL
    B4DI96

  17. XM_054326586.1 → XP_054182561.1  PABIR family member 1 isoform X11

    UniProtKB/TrEMBL
    B4DI96

  18. XM_054326587.1 → XP_054182562.1  PABIR family member 1 isoform X11

    UniProtKB/TrEMBL
    B4DI96
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P4D5.1 GenPept UniProtKB/Swiss-Prot:Q6P4D5

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