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TJAP1 tight junction associated protein 1 [ Homo sapiens (human) ]

Gene ID: 93643, updated on 21-Apr-2017
Official Symbol
TJAP1provided by HGNC
Official Full Name
tight junction associated protein 1provided by HGNC
Primary source
HGNC:HGNC:17949
See related
Ensembl:ENSG00000137221 MIM:612658; Vega:OTTHUMG00000014736
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
PILT; TJP4
Summary
This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009]
Orthologs
Location:
6p21.1
Exon count:
15
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (43477523..43506557)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43445261..43474294)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986597 Neighboring gene delta like non-canonical Notch ligand 2 Neighboring gene RNA, U6 small nuclear 1113, pseudogene Neighboring gene leucine rich repeat containing 73 Neighboring gene Yip1 domain family member 3

  • 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 Jun 15 11:32:44 2016

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686F06131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
endosome IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
tight junction-associated protein 1
Names
protein incorporated later into tight junctions
tight junction associated protein 1 (peripheral)
tight junction protein 4 (peripheral)

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_001146016.1NP_001139488.1  tight junction-associated protein 1 isoform a

    See identical proteins and their annotated locations for NP_001139488.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2, and 8-15 all encode the same isoform (a).
    Source sequence(s)
    AK074241, BC046239, DA018836
    Consensus CDS
    CCDS55004.1
    UniProtKB/Swiss-Prot
    Q5JTD0
    Related
    ENSP00000361522.5, ENST00000372445.9
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  2. NM_001146017.1NP_001139489.1  tight junction-associated protein 1 isoform a

    See identical proteins and their annotated locations for NP_001139489.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 8-15 all encode the same isoform (a).
    Source sequence(s)
    AK074241, DA297698, DA415818
    Consensus CDS
    CCDS55004.1
    UniProtKB/Swiss-Prot
    Q5JTD0
    Related
    ENSP00000408769.2, ENST00000438588.6
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  3. NM_001146018.1NP_001139490.1  tight junction-associated protein 1 isoform b

    See identical proteins and their annotated locations for NP_001139490.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (b) is shorter than isoform a. Variants 3-6, 16, and 17 all encode the same isoform (b).
    Source sequence(s)
    AK074241, BC064401, DA098538
    Consensus CDS
    CCDS4898.1
    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Related
    ENSP00000361521.2, ENST00000372444.6
    Conserved Domains (2) summary
    pfam13863
    Location:43159
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
  4. NM_001146019.1NP_001139491.1  tight junction-associated protein 1 isoform b

    See identical proteins and their annotated locations for NP_001139491.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an in-frame exon in the 5' coding region compared to variant 1. The resulting isoform (b) is shorter than isoform a. Variants 3-6, 16 and 17 all encode the same isoform (b).
    Source sequence(s)
    AK074241, AK225787, DA018836
    Consensus CDS
    CCDS4898.1
    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Conserved Domains (2) summary
    pfam13863
    Location:43159
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
  5. NM_001146020.1NP_001139492.1  tight junction-associated protein 1 isoform b

    See identical proteins and their annotated locations for NP_001139492.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (b) is shorter than isoform a. Variants 3-6, 16, and 17 all encode the same isoform (b).
    Source sequence(s)
    AK074241, DA018836, DA051961
    Consensus CDS
    CCDS4898.1
    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Related
    ENSP00000407080.2, ENST00000436109.6
    Conserved Domains (2) summary
    pfam13863
    Location:43159
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
  6. NM_001350561.1NP_001337490.1  tight junction-associated protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 1, 2, and 9-15, encodes isoform a.
    Source sequence(s)
    AL355802, AL359813
  7. NM_001350562.1NP_001337491.1  tight junction-associated protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 1, 2, 8, and 10-15, encodes isoform a.
    Source sequence(s)
    AL355802, AL359813
  8. NM_001350563.1NP_001337492.1  tight junction-associated protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 1, 2, 8, 9, and 11-15, encodes isoform a.
    Source sequence(s)
    AL355802, AL359813
  9. NM_001350564.1NP_001337493.1  tight junction-associated protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 1, 2, 8-10, and 12-15, encodes isoform a.
    Source sequence(s)
    AL355802, AL359813
  10. NM_001350565.1NP_001337494.1  tight junction-associated protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 1, 2, 8-11, and 13-15, encodes isoform a.
    Source sequence(s)
    AL355802
  11. NM_001350566.1NP_001337495.1  tight junction-associated protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variants 1, 2, 8-12, 14, and 15, encodes isoform a.
    Source sequence(s)
    AL355802
  12. NM_001350567.1NP_001337496.1  tight junction-associated protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variants 1, 2, 8-13, and 15, encodes isoform a.
    Source sequence(s)
    AL355802
  13. NM_001350568.1NP_001337497.1  tight junction-associated protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variants 1, 2, and 8-14, encodes isoform a.
    Source sequence(s)
    AL355802
  14. NM_001350569.1NP_001337498.1  tight junction-associated protein 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variants 3-6 and 17, encodes isoform b.
    Source sequence(s)
    AL355802, AL359813
  15. NM_001350570.1NP_001337499.1  tight junction-associated protein 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), as well as variants 3-6 and 16, encodes isoform b.
    Source sequence(s)
    AL355802, AL359813
  16. NM_080604.2NP_542171.2  tight junction-associated protein 1 isoform b

    See identical proteins and their annotated locations for NP_542171.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (b) is shorter than isoform a. Variants 3-6, 16, and 17 all encode the same isoform (b).
    Source sequence(s)
    AK024269, AK074241, DA018836
    Consensus CDS
    CCDS4898.1
    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Related
    ENSP00000259751.1, OTTHUMP00000016453, ENST00000259751.5, OTTHUMT00000040626
    Conserved Domains (2) summary
    pfam13863
    Location:43159
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions

RNA

  1. NR_027394.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK074241, AK309119, BC046239, DA018836
  2. NR_146793.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355802, AL359813

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

    Range
    43477523..43506557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514995.1XP_011513297.1  tight junction-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011513297.1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  2. XM_006715249.1XP_006715312.1  tight junction-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Related
    ENSP00000361527.1, OTTHUMP00000016456, ENST00000372449.5, OTTHUMT00000040629
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  3. XM_017011490.1XP_016866979.1  tight junction-associated protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Related
    ENSP00000361530.1, OTTHUMP00000016455, ENST00000372452.5, OTTHUMT00000040628
    Conserved Domains (2) summary
    pfam13863
    Location:43159
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
  4. XM_011514996.1XP_011513298.1  tight junction-associated protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011513298.1

    Conserved Domains (2) summary
    pfam13863
    Location:2128
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:243515
    Pilt; Protein incorporated later into Tight Junctions
  5. XM_006715261.1XP_006715324.1  tight junction-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715324.1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  6. XM_017011493.1XP_016866982.1  tight junction-associated protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Conserved Domains (2) summary
    pfam13863
    Location:43159
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
  7. XM_017011491.1XP_016866980.1  tight junction-associated protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Conserved Domains (2) summary
    pfam13863
    Location:43159
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
  8. XM_006715263.2XP_006715326.1  tight junction-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715326.1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  9. XM_006715266.1XP_006715329.1  tight junction-associated protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006715329.1

    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Conserved Domains (2) summary
    pfam13863
    Location:43159
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
  10. XM_017011492.1XP_016866981.1  tight junction-associated protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Conserved Domains (2) summary
    pfam13863
    Location:43159
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
  11. XM_006715252.2XP_006715315.1  tight junction-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  12. XM_006715269.2XP_006715332.1  tight junction-associated protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006715332.1

    Conserved Domains (2) summary
    pfam13863
    Location:2128
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:243515
    Pilt; Protein incorporated later into Tight Junctions
  13. XM_006715251.2XP_006715314.1  tight junction-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715314.1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  14. XM_006715267.2XP_006715330.1  tight junction-associated protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006715330.1

    Conserved Domains (2) summary
    pfam13863
    Location:2128
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:243515
    Pilt; Protein incorporated later into Tight Junctions
  15. XM_006715270.1XP_006715333.1  tight junction-associated protein 1 isoform X4

    Conserved Domains (2) summary
    pfam13863
    Location:2118
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:233505
    Pilt; Protein incorporated later into Tight Junctions
  16. XM_006715268.2XP_006715331.1  tight junction-associated protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006715331.1

    Conserved Domains (2) summary
    pfam13863
    Location:2128
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:243515
    Pilt; Protein incorporated later into Tight Junctions
  17. XM_006715254.3XP_006715317.1  tight junction-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715317.1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  18. XM_006715256.1XP_006715319.1  tight junction-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  19. XM_006715265.1XP_006715328.1  tight junction-associated protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006715328.1

    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Conserved Domains (2) summary
    pfam13863
    Location:43159
    DUF4200; Domain of unknown function (DUF4200)
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
  20. XM_006715257.2XP_006715320.1  tight junction-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715320.1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  21. XM_006715259.3XP_006715322.1  tight junction-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  22. XM_006715250.3XP_006715313.1  tight junction-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715313.1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  23. XM_017011489.1XP_016866978.1  tight junction-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  24. XM_006715262.2XP_006715325.1  tight junction-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715325.1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  25. XM_006715260.1XP_006715323.1  tight junction-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
  26. XM_017011488.1XP_016866977.1  tight junction-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (1) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions

RNA

  1. XR_001743745.1 RNA Sequence

  2. XR_926337.2 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    43448397..43477426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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