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

Gene ID: 57217, updated on 28-Oct-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: HPA RNA-seq normal tissues 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. 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)

Genotypes

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

  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

  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

  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

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

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

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

  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

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

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

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

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

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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