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

    Gene ID: 57217, updated on 4-Jul-2021

    Summary

    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
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See TTC7A in Genome Data Viewer
    Location:
    2p21
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (46915866..47076123)
    105.20201022 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 Sharpr-MPRA regulatory region 4552 Neighboring gene multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Neighboring gene Sharpr-MPRA regulatory region 1272/3994 Neighboring gene VISTA enhancer hs1967 Neighboring gene sperm-tail PG-rich repeat containing 4 Neighboring gene calmodulin 2

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    GeneReviews: Not available
    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.
    GeneReviews: Not available
    Multiple gastrointestinal atresias
    MedGen: C5234880 OMIM: 243150 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC131720, MGC134830

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cellular iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001288951.2NP_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/Swiss-Prot
      Q9ULT0
      Related
      ENSP00000378320.2, ENST00000394850.6
      Conserved Domains (4) summary
      sd00006
      Location:771797
      TPR; TPR repeat [structural motif]
      pfam07719
      Location:771801
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:804867
      TPR_11; TPR repeat
      pfam13432
      Location:773832
      TPR_16; Tetratricopeptide repeat
    2. NM_001288953.2NP_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/Swiss-Prot
      Q9ULT0
      UniProtKB/TrEMBL
      B3KPK7, G5E9G4
      Related
      ENSP00000386307.1, ENST00000409245.5
      Conserved Domains (4) summary
      sd00006
      Location:713739
      TPR; TPR repeat [structural motif]
      pfam07719
      Location:713743
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:746809
      TPR_11; TPR repeat
      pfam13432
      Location:715774
      TPR_16; Tetratricopeptide repeat
    3. NM_001288955.2NP_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/Swiss-Prot
      Q9ULT0
      UniProtKB/TrEMBL
      B3KPK7, I6L9J2
      Conserved Domains (4) summary
      sd00006
      Location:393419
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:393423
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:426489
      TPR_11; TPR repeat
      pfam13432
      Location:395454
      TPR_16; Tetratricopeptide repeat
    4. NM_020458.4NP_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
      Q9ULT0
      Related
      ENSP00000316699.5, ENST00000319190.11
      Conserved Domains (4) summary
      sd00006
      Location:747773
      TPR; TPR repeat [structural motif]
      pfam07719
      Location:747777
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:780843
      TPR_11; TPR repeat
      pfam13432
      Location:749808
      TPR_16; Tetratricopeptide repeat

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011532998.3XP_011531300.1  tetratricopeptide repeat protein 7A isoform X4

      See identical proteins and their annotated locations for XP_011531300.1

      Conserved Domains (6) summary
      COG0457
      Location:259483
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:628654
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:695724
      TPR_1; Tetratricopeptide repeat
      pfam07719
      Location:628658
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:661724
      TPR_11; TPR repeat
      pfam13432
      Location:630689
      TPR_16; Tetratricopeptide repeat
    2. XM_005264439.4XP_005264496.1  tetratricopeptide repeat protein 7A isoform X4

      See identical proteins and their annotated locations for XP_005264496.1

      Conserved Domains (6) summary
      COG0457
      Location:259483
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:628654
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:695724
      TPR_1; Tetratricopeptide repeat
      pfam07719
      Location:628658
      TPR_2; Tetratricopeptide repeat
      pfam13414
      Location:661724
      TPR_11; TPR repeat
      pfam13432
      Location:630689
      TPR_16; Tetratricopeptide repeat
    3. XM_017004524.1XP_016860013.1  tetratricopeptide repeat protein 7A isoform X1

    4. XM_017004526.1XP_016860015.1  tetratricopeptide repeat protein 7A isoform X3

    5. XM_017004529.1XP_016860018.1  tetratricopeptide repeat protein 7A isoform X5

    6. XM_011532999.2XP_011531301.1  tetratricopeptide repeat protein 7A isoform X6

    7. XM_017004525.1XP_016860014.1  tetratricopeptide repeat protein 7A isoform X2

    8. XM_011533000.3XP_011531302.1  tetratricopeptide repeat protein 7A isoform X7

      Related
      ENST00000491786.5
      Conserved Domains (4) summary
      sd00006
      Location:487513
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:487517
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:520583
      TPR_11; TPR repeat
      pfam13432
      Location:489548
      TPR_16; Tetratricopeptide repeat
    9. XM_024453013.1XP_024308781.1  tetratricopeptide repeat protein 7A isoform X8

      Related
      ENST00000651415.1
      Conserved Domains (2) summary
      sd00006
      Location:402428
      TPR; TPR repeat [structural motif]
      cl26005
      Location:259510
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
    10. XM_011533001.3XP_011531303.1  tetratricopeptide repeat protein 7A isoform X9

      Conserved Domains (4) summary
      sd00006
      Location:398424
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:398428
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:431494
      TPR_11; TPR repeat
      pfam13432
      Location:400459
      TPR_16; Tetratricopeptide repeat

    RNA

    1. XR_001738853.2 RNA Sequence

    2. XR_001738854.1 RNA Sequence

      Related
      ENST00000461601.5
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