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

Gene ID: 57217, updated on 13-Feb-2019

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

Genomic context

See TTC7A in Genome Data Viewer
Location:
2p21
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (46916129..47076136)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47168313..47303275)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1118 Neighboring gene long intergenic non-protein coding RNA 1119 Neighboring gene uncharacterized LOC107985880 Neighboring gene multiple coagulation factor deficiency 2 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Multiple gastrointestinal atresias
MedGen: C0220744 OMIM: 243150 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA 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.
NHGRI GWA Catalog

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
cellular iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
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)

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)

mRNA and Protein(s)

  1. NM_001288951.1NP_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)
    AB032966, AI694289, AL117512, AL834383, BC001978, BC047709, BC111487, BM683111
    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_001288953.1NP_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)
    AB032966, AI694289, AK056464, AL117512, BC001978, BC111487, BM683111, DA379361
    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_001288955.1NP_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)
    AB032966, AI694289, AK056464, AL117512, AL834383, BC001978, BC047709, BC114365, BM683111
    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, ENST00000319190.9
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    46916129..47076136
    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

    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

    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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