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    TTPAL alpha tocopherol transfer protein like [ Homo sapiens (human) ]

    Gene ID: 79183, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TTPALprovided by HGNC
    Official Full Name
    alpha tocopherol transfer protein likeprovided by HGNC
    Primary source
    HGNC:HGNC:16114
    See related
    Ensembl:ENSG00000124120 AllianceGenome:HGNC:16114
    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
    C20orf121
    Summary
    Predicted to enable phosphatidylinositol bisphosphate binding activity. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 4.7), thyroid (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTPAL in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44475874..44494603)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46211640..46230370)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43104514..43123244)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1620 Neighboring gene ribosomal protein L37a pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17925 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:43124829-43126028 Neighboring gene serine incorporator 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43149922-43150474 Neighboring gene Sharpr-MPRA regulatory region 7879 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:43152936-43153812 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:43154689-43155564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43160105-43160605 Neighboring gene cAMP-dependent protein kinase inhibitor gamma Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43226219-43226966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43229479-43229980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:43237694-43238268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17933 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:43246415-43247142

    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. TTPAL promotes gastric tumorigenesis by directly targeting NNMT to activate PI3K/AKT signaling. Liu W, et al. Oncogene, 2021 Dec. PMID 34642500, Free PMC Article
    2. TTPAL Promotes Colorectal Tumorigenesis by Stabilizing TRIP6 to Activate Wnt/β-Catenin Signaling. Gou H, et al. Cancer Res, 2019 Jul 1. PMID 31018940
    3. Investigation of the expression levels of CDH1, FHIT, PTEN, and TTPAL genes in colorectal tumors. Arıkan Söylemez ESS, et al. Turk J Med Sci, 2022 Feb. PMID 36161592, Free PMC Article
    4. An investigation into the human serum "interactome". Zhou M, et al. Electrophoresis, 2004 May. PMID 15174051
    5. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Investigation of the expression levels of CDH1, FHIT, PTEN, and TTPAL genes in colorectal tumors.
      Title: Investigation of the expression levels of CDH1, FHIT, PTEN, and TTPAL genes in colorectal tumors.
    2. TTPAL promotes gastric tumorigenesis by directly targeting NNMT to activate PI3K/AKT signaling.
      Title: TTPAL promotes gastric tumorigenesis by directly targeting NNMT to activate PI3K/AKT signaling.
    3. High TTPAL expression is associated with Colorectal Tumorigenesis.
      Title: TTPAL Promotes Colorectal Tumorigenesis by Stabilizing TRIP6 to Activate Wnt/β-Catenin Signaling.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2470, DKFZp686E0870

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    alpha-tocopherol transfer protein-like
    Names
    tocopherol (alpha) transfer protein-like

    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.

    mRNA and Protein(s)

    1. NM_001039199.3 → NP_001034288.1  alpha-tocopherol transfer protein-like isoform 1

      See identical proteins and their annotated locations for NP_001034288.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AK314045, AL132772, BP351602, Z97053
      Consensus CDS
      CCDS13332.2
      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8
      UniProtKB/TrEMBL
      Q5CZA1
      Related
      ENSP00000262605.4, ENST00000262605.9
      Conserved Domains (2) summary
      smart01100
      Location:56 → 102
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:121 → 277
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    2. NM_001261839.2 → NP_001248768.1  alpha-tocopherol transfer protein-like isoform 2

      See identical proteins and their annotated locations for NP_001248768.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 1, which results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AL132772, BP351602, BQ646722, Z97053
      UniProtKB/TrEMBL
      Q5QPC2
      Related
      ENSP00000412720.1, ENST00000456317.1
      Conserved Domains (2) summary
      smart01100
      Location:56 → 102
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:121 → 243
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    3. NM_024331.5 → NP_077307.2  alpha-tocopherol transfer protein-like isoform 1

      See identical proteins and their annotated locations for NP_077307.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1). Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AL132772, BC003071, BP351602, Z97053
      Consensus CDS
      CCDS13332.2
      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8
      UniProtKB/TrEMBL
      Q5CZA1
      Related
      ENSP00000361995.3, ENST00000372904.7
      Conserved Domains (2) summary
      smart01100
      Location:56 → 102
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:121 → 277
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      44475874..44494603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440481.1 → XP_047296437.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    2. XM_047440482.1 → XP_047296438.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    3. XM_047440487.1 → XP_047296443.1  alpha-tocopherol transfer protein-like isoform X2

    4. XM_011529044.4 → XP_011527346.1  alpha-tocopherol transfer protein-like isoform X1

      See identical proteins and their annotated locations for XP_011527346.1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8
      UniProtKB/TrEMBL
      Q5CZA1
      Conserved Domains (2) summary
      smart01100
      Location:56 → 102
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:121 → 277
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    5. XM_047440490.1 → XP_047296446.1  alpha-tocopherol transfer protein-like isoform X2

    6. XM_047440484.1 → XP_047296440.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    7. XM_047440489.1 → XP_047296445.1  alpha-tocopherol transfer protein-like isoform X2

    8. XM_011529043.4 → XP_011527345.1  alpha-tocopherol transfer protein-like isoform X1

      See identical proteins and their annotated locations for XP_011527345.1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8
      UniProtKB/TrEMBL
      Q5CZA1
      Conserved Domains (2) summary
      smart01100
      Location:56 → 102
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:121 → 277
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    9. XM_047440488.1 → XP_047296444.1  alpha-tocopherol transfer protein-like isoform X2

    10. XM_047440483.1 → XP_047296439.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    11. XM_047440493.1 → XP_047296449.1  alpha-tocopherol transfer protein-like isoform X3

    12. XM_047440492.1 → XP_047296448.1  alpha-tocopherol transfer protein-like isoform X3

    13. XM_017028063.3 → XP_016883552.1  alpha-tocopherol transfer protein-like isoform X2

      UniProtKB/TrEMBL
      Q5QPC2
      Conserved Domains (2) summary
      smart01100
      Location:56 → 102
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:121 → 243
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    14. XM_047440485.1 → XP_047296441.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    15. XM_047440494.1 → XP_047296450.1  alpha-tocopherol transfer protein-like isoform X3

    16. XM_024452000.2 → XP_024307768.1  alpha-tocopherol transfer protein-like isoform X2

      UniProtKB/TrEMBL
      Q5QPC2
      Conserved Domains (2) summary
      smart01100
      Location:56 → 102
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:121 → 243
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    17. XM_011529045.4 → XP_011527347.1  alpha-tocopherol transfer protein-like isoform X3

      UniProtKB/TrEMBL
      Q5CZA1
      Conserved Domains (2) summary
      smart01100
      Location:56 → 102
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:121 → 240
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    18. XM_024452001.2 → XP_024307769.1  alpha-tocopherol transfer protein-like isoform X4

      Conserved Domains (1) summary
      smart01100
      Location:56 → 102
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

    19. XM_047440491.1 → XP_047296447.1  alpha-tocopherol transfer protein-like isoform X3

    20. XM_047440486.1 → XP_047296442.1  alpha-tocopherol transfer protein-like isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      46211640..46230370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323994.1 → XP_054179969.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    2. XM_054323996.1 → XP_054179971.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    3. XM_054323995.1 → XP_054179970.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    4. XM_054324002.1 → XP_054179977.1  alpha-tocopherol transfer protein-like isoform X2

    5. XM_054323993.1 → XP_054179968.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    6. XM_054324001.1 → XP_054179976.1  alpha-tocopherol transfer protein-like isoform X2

    7. XM_054323998.1 → XP_054179973.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    8. XM_054324007.1 → XP_054179982.1  alpha-tocopherol transfer protein-like isoform X3

    9. XM_054324008.1 → XP_054179983.1  alpha-tocopherol transfer protein-like isoform X3

    10. XM_054324000.1 → XP_054179975.1  alpha-tocopherol transfer protein-like isoform X2

    11. XM_054323997.1 → XP_054179972.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    12. XM_054324009.1 → XP_054179984.1  alpha-tocopherol transfer protein-like isoform X3

    13. XM_054324004.1 → XP_054179979.1  alpha-tocopherol transfer protein-like isoform X2

    14. XM_054324005.1 → XP_054179980.1  alpha-tocopherol transfer protein-like isoform X3

    15. XM_054323992.1 → XP_054179967.1  alpha-tocopherol transfer protein-like isoform X1

      UniProtKB/Swiss-Prot
      E1P5X3, Q5QPC1, Q9BTX7, Q9H1G2, Q9NQG8

    16. XM_054323999.1 → XP_054179974.1  alpha-tocopherol transfer protein-like isoform X2

    17. XM_054324003.1 → XP_054179978.1  alpha-tocopherol transfer protein-like isoform X2

    18. XM_054324010.1 → XP_054179985.1  alpha-tocopherol transfer protein-like isoform X4

    19. XM_054324006.1 → XP_054179981.1  alpha-tocopherol transfer protein-like isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BTX7.2 GenPept UniProtKB/Swiss-Prot:Q9BTX7

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