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

Gene ID: 93643, updated on 7-Jun-2020

Summary

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
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]
Expression
Ubiquitous expression in ovary (RPKM 10.1), endometrium (RPKM 8.8) and 25 other tissues See more
Orthologs

Genomic context

See TJAP1 in Genome Data Viewer
Location:
6p21.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (43477523..43506556)
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

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686F06131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
Golgi organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

NCBI Reference Sequences (RefSeq)

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 (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  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 (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  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
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17161
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_001146019.2NP_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
    Consensus CDS
    CCDS4898.1
    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Conserved Domains (2) summary
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17161
    SMC_N; RecF/RecN/SMC N terminal domain
  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
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17161
    SMC_N; RecF/RecN/SMC N terminal domain
  6. NM_001350561.2NP_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
    Consensus CDS
    CCDS55004.1
    Conserved Domains (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  7. NM_001350562.2NP_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
    Consensus CDS
    CCDS55004.1
    Related
    ENSP00000361527.1, ENST00000372449.5
    Conserved Domains (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  8. NM_001350563.2NP_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
    Consensus CDS
    CCDS55004.1
    Conserved Domains (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  9. NM_001350564.2NP_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
    Consensus CDS
    CCDS55004.1
    Conserved Domains (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  10. NM_001350565.2NP_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
    Consensus CDS
    CCDS55004.1
    Conserved Domains (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  11. NM_001350566.2NP_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
    Consensus CDS
    CCDS55004.1
    Conserved Domains (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  12. NM_001350567.2NP_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
    Consensus CDS
    CCDS55004.1
    Conserved Domains (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  13. NM_001350568.2NP_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
    Consensus CDS
    CCDS55004.1
    Conserved Domains (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  14. NM_001350569.2NP_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
    Consensus CDS
    CCDS4898.1
    Related
    ENSP00000361530.1, ENST00000372452.5
    Conserved Domains (2) summary
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17161
    SMC_N; RecF/RecN/SMC N terminal domain
  15. NM_001350570.2NP_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
    Consensus CDS
    CCDS4898.1
    Conserved Domains (2) summary
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17161
    SMC_N; RecF/RecN/SMC N terminal domain
  16. NM_080604.3NP_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, ENST00000259751.5
    Conserved Domains (2) summary
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17161
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. NR_027394.2 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
  2. NR_146793.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL355802, AL359813

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    43477523..43506556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715251.3XP_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 (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_024446586.1XP_024302354.1  tight junction-associated protein 1 isoform X1

  3. XM_024446587.1XP_024302355.1  tight junction-associated protein 1 isoform X2

    Conserved Domains (2) summary
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17161
    SMC_N; RecF/RecN/SMC N terminal domain
  4. 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 (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  5. 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
  6. 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 (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_024446585.1XP_024302353.1  tight junction-associated protein 1 isoform X1

  8. XM_017011493.1XP_016866982.1  tight junction-associated protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Conserved Domains (2) summary
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17161
    SMC_N; RecF/RecN/SMC N terminal domain
  9. XM_006715250.4XP_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 (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  10. XM_006715254.4XP_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 (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  11. 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 (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  12. 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
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17161
    SMC_N; RecF/RecN/SMC N terminal domain
  13. XM_024446584.1XP_024302352.1  tight junction-associated protein 1 isoform X1

  14. XM_017011492.1XP_016866981.1  tight junction-associated protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q5JTD0
    UniProtKB/TrEMBL
    A0A024RD56
    Conserved Domains (2) summary
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17161
    SMC_N; RecF/RecN/SMC N terminal domain
  15. 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
  16. 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
  17. 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
  18. 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
  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
    pfam15453
    Location:274546
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17161
    SMC_N; RecF/RecN/SMC N terminal domain
  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 (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  21. XM_017011489.1XP_016866978.1  tight junction-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q5JTD0
    Conserved Domains (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain
  22. 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 (2) summary
    pfam15453
    Location:284556
    Pilt; Protein incorporated later into Tight Junctions
    cl25732
    Location:17163
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. XR_926337.2 RNA Sequence

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