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    TTC7A tetratricopeptide repeat domain 7A [ Homo sapiens (human) ]

    Gene ID: 57217, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TTC7Aprovided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 7Aprovided by HGNC
    Primary source
    HGNC:HGNC:19750
    See related
    Ensembl:ENSG00000068724 MIM:609332; AllianceGenome:HGNC:19750
    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
    TTC7; GIDID; MINAT
    Summary
    This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
    Expression
    Broad expression in testis (RPKM 14.8), bone marrow (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC7A in Genome Data Viewer
    Location:
    2p21
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (46915866..47076123)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (46920640..47080920)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47143005..47303262)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1119 Neighboring gene uncharacterized LOC107985880 Neighboring gene Sharpr-MPRA regulatory region 12526 Neighboring gene uncharacterized LOC124906004 Neighboring gene Sharpr-MPRA regulatory region 4552 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47100539-47101038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47105752-47106252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47106253-47106753 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47117443-47117627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11457 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47143015-47143989 Neighboring gene multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15716 Neighboring gene Sharpr-MPRA regulatory region 4700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47184163-47184662 Neighboring gene Sharpr-MPRA regulatory region 1272/3994 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:47201305-47202504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47214570-47215070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47215071-47215571 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47229712-47229877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47231529-47232241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47233455-47234351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47247642-47248142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47252405-47252904 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:47260876-47262075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47272944-47273444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47273445-47273945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47276757-47277730 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47278786-47278992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47282739-47283687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47293527-47294085 Neighboring gene VISTA enhancer hs1967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47307103-47307880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47307881-47308656 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:47316060-47317259 Neighboring gene sperm-tail PG-rich repeat containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15722 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:47402112-47402778 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47402802-47402952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15725 Neighboring gene calmodulin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects. Woutsas S, et al. Blood, 2015 Mar 5. PMID 25745186, Free PMC Article
    2. A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems. Sharafian S, et al. J Investig Allergol Clin Immunol, 2018 Oct. PMID 30350797
    3. TTC7A: Steward of Intestinal Health. Jardine S, et al. Cell Mol Gastroenterol Hepatol, 2019. PMID 30553809, Free PMC Article
    4. Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease. Neves JF, et al. Eur J Med Genet, 2018 Apr. PMID 29174094
    5. TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients. Ashton JJ, et al. J Clin Immunol, 2020 Jan. PMID 31814065

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Actin dynamics regulation by TTC7A/PI4KIIIalpha limits DNA damage and cell death under confinement.
      Title: Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.
    2. Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.
      Title: Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.
    3. A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.
      Title: A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.
    4. The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.
      Title: The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.
    5. TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients.
      Title: TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients.
    6. TTC7A Deficiency Presenting With Combined Immunodeficiency.
      Title: A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems.
    7. TTC7A deficiency identified in a patient with overlapping features of tricho-hepato-enteric syndrome and multiple intestinal atresia with combined immune deficiency syndrome.
      Title: Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
    8. Studies indicate that mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause a severe form of very early onset inflammatory bowel disease
      Title: Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up.
    9. The results further demonstrate that the skin consequences of TTC7A deficiency in mice and humans are consistent with a role of TTC7A in the balance of keratinocyte maturation, proliferation and cell death processes.
      Title: Ichthyosis as the dermatological phenotype associated with TTC7A mutations.
    10. identified a perfectly segregating homozygous missense mutation in TTC7A in a consanguinous Turkish pedigree causing combined immunodeficiency with mild structural intestinal defects
      Title: Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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

    Associated conditions

    Description Tests
    Gastrointestinal defects and immunodeficiency syndrome 1
    MedGen: C5680044 OMIM: 243150 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of tetratricopeptide repeat domain 7A (TTC7A) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC131720, MGC134830

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 7A
    Names
    TPR repeat protein 7A

    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_034143.2 RefSeqGene

      Range
      30096..164995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1323

    mRNA and Protein(s)

    1. NM_001288951.2 → NP_001275880.1  tetratricopeptide repeat protein 7A isoform 1

      See identical proteins and their annotated locations for NP_001275880.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC073283, AC093732
      Consensus CDS
      CCDS74511.1
      UniProtKB/TrEMBL
      B3KPK7
      Related
      ENSP00000378320.2, ENST00000394850.6
      Conserved Domains (4) summary
      sd00006
      Location:771 → 797
      TPR; TPR repeat [structural motif]
      pfam07719
      Location:771 → 801
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:804 → 867
      TPR_11; TPR repeat
      pfam13432
      Location:773 → 832
      TPR_16; Tetratricopeptide repeat

    2. NM_001288953.2 → NP_001275882.1  tetratricopeptide repeat protein 7A isoform 3

      See identical proteins and their annotated locations for NP_001275882.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon structure and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC016722, AC073283, AC093732
      Consensus CDS
      CCDS74510.1
      UniProtKB/TrEMBL
      B3KPK7, G5E9G4
      Related
      ENSP00000386307.1, ENST00000409245.5
      Conserved Domains (4) summary
      sd00006
      Location:713 → 739
      TPR; TPR repeat [structural motif]
      pfam07719
      Location:713 → 743
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:746 → 809
      TPR_11; TPR repeat
      pfam13432
      Location:715 → 774
      TPR_16; Tetratricopeptide repeat

    3. NM_001288955.2 → NP_001275884.1  tetratricopeptide repeat protein 7A isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 4, which is shorter than isoform 1.
      Source sequence(s)
      AC073283, AC093732
      UniProtKB/TrEMBL
      I6L9J2
      Conserved Domains (4) summary
      sd00006
      Location:393 → 419
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:393 → 423
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:426 → 489
      TPR_11; TPR repeat
      pfam13432
      Location:395 → 454
      TPR_16; Tetratricopeptide repeat

    4. NM_020458.4 → NP_065191.2  tetratricopeptide repeat protein 7A isoform 2

      See identical proteins and their annotated locations for NP_065191.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC073283, AC093732
      Consensus CDS
      CCDS33193.1
      UniProtKB/Swiss-Prot
      Q2T9J9, Q6PIX4, Q8ND67, Q9BUS3, Q9ULT0
      UniProtKB/TrEMBL
      B3KPK7
      Related
      ENSP00000316699.5, ENST00000319190.11
      Conserved Domains (4) summary
      sd00006
      Location:747 → 773
      TPR; TPR repeat [structural motif]
      pfam07719
      Location:747 → 777
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:780 → 843
      TPR_11; TPR repeat
      pfam13432
      Location:749 → 808
      TPR_16; Tetratricopeptide repeat

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      46915866..47076123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445148.1 → XP_047301104.1  tetratricopeptide repeat protein 7A isoform X8

      UniProtKB/TrEMBL
      B3KPK7

    2. XM_017004524.2 → XP_016860013.1  tetratricopeptide repeat protein 7A isoform X1

      UniProtKB/TrEMBL
      B3KPK7

    3. XM_017004526.2 → XP_016860015.1  tetratricopeptide repeat protein 7A isoform X3

      UniProtKB/TrEMBL
      B3KPK7

    4. XM_047445146.1 → XP_047301102.1  tetratricopeptide repeat protein 7A isoform X5

      UniProtKB/TrEMBL
      B3KPK7

    5. XM_011532999.3 → XP_011531301.1  tetratricopeptide repeat protein 7A isoform X6

    6. XM_047445149.1 → XP_047301105.1  tetratricopeptide repeat protein 7A isoform X9

    7. XM_047445147.1 → XP_047301103.1  tetratricopeptide repeat protein 7A isoform X7

    8. XM_047445150.1 → XP_047301106.1  tetratricopeptide repeat protein 7A isoform X13

    9. XM_017004525.2 → XP_016860014.1  tetratricopeptide repeat protein 7A isoform X2

      UniProtKB/TrEMBL
      B3KPK7

    10. XM_047445145.1 → XP_047301101.1  tetratricopeptide repeat protein 7A isoform X4

      UniProtKB/TrEMBL
      Q6P0M3

    11. XM_011533000.4 → XP_011531302.1  tetratricopeptide repeat protein 7A isoform X10

      UniProtKB/TrEMBL
      Q6P0M3
      Related
      ENST00000491786.5
      Conserved Domains (4) summary
      sd00006
      Location:487 → 513
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:487 → 517
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:520 → 583
      TPR_11; TPR repeat
      pfam13432
      Location:489 → 548
      TPR_16; Tetratricopeptide repeat

    12. XM_024453013.2 → XP_024308781.1  tetratricopeptide repeat protein 7A isoform X11

      UniProtKB/TrEMBL
      I6L9J2
      Related
      ENST00000651415.1
      Conserved Domains (2) summary
      sd00006
      Location:402 → 428
      TPR; TPR repeat [structural motif]
      cl26005
      Location:259 → 510
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    13. XM_011533001.4 → XP_011531303.1  tetratricopeptide repeat protein 7A isoform X12

      UniProtKB/TrEMBL
      I6L9J2
      Conserved Domains (4) summary
      sd00006
      Location:398 → 424
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:398 → 428
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:431 → 494
      TPR_11; TPR repeat
      pfam13432
      Location:400 → 459
      TPR_16; Tetratricopeptide repeat

    RNA

    1. XR_007078570.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      46920640..47080920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343096.1 → XP_054199071.1  tetratricopeptide repeat protein 7A isoform X8

      UniProtKB/TrEMBL
      B3KPK7

    2. XM_054343089.1 → XP_054199064.1  tetratricopeptide repeat protein 7A isoform X1

      UniProtKB/TrEMBL
      B3KPK7

    3. XM_054343091.1 → XP_054199066.1  tetratricopeptide repeat protein 7A isoform X3

      UniProtKB/TrEMBL
      B3KPK7

    4. XM_054343093.1 → XP_054199068.1  tetratricopeptide repeat protein 7A isoform X5

      UniProtKB/TrEMBL
      B3KPK7

    5. XM_054343094.1 → XP_054199069.1  tetratricopeptide repeat protein 7A isoform X6

    6. XM_054343097.1 → XP_054199072.1  tetratricopeptide repeat protein 7A isoform X9

    7. XM_054343095.1 → XP_054199070.1  tetratricopeptide repeat protein 7A isoform X7

    8. XM_054343101.1 → XP_054199076.1  tetratricopeptide repeat protein 7A isoform X13

    9. XM_054343090.1 → XP_054199065.1  tetratricopeptide repeat protein 7A isoform X2

      UniProtKB/TrEMBL
      B3KPK7

    10. XM_054343092.1 → XP_054199067.1  tetratricopeptide repeat protein 7A isoform X4

      UniProtKB/TrEMBL
      Q6P0M3

    11. XM_054343098.1 → XP_054199073.1  tetratricopeptide repeat protein 7A isoform X10

      UniProtKB/TrEMBL
      Q6P0M3

    12. XM_054343099.1 → XP_054199074.1  tetratricopeptide repeat protein 7A isoform X11

      UniProtKB/TrEMBL
      I6L9J2

    13. XM_054343100.1 → XP_054199075.1  tetratricopeptide repeat protein 7A isoform X12

      UniProtKB/TrEMBL
      I6L9J2

    RNA

    1. XR_008486460.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULT0.3 GenPept UniProtKB/Swiss-Prot:Q9ULT0

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