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TTC7B tetratricopeptide repeat domain 7B [ Homo sapiens (human) ]

Gene ID: 145567, updated on 5-Mar-2024

Summary

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Official Symbol
TTC7Bprovided by HGNC
Official Full Name
tetratricopeptide repeat domain 7Bprovided by HGNC
Primary source
HGNC:HGNC:19858
See related
Ensembl:ENSG00000165914 MIM:620060; AllianceGenome:HGNC:19858
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
TTC7L1; c14_5685
Summary
Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 16.7), fat (RPKM 9.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q32.11
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (90524564..90816430, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (84749718..85042042, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (90990908..91282774, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:90975958-90976791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90978459-90979291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90979510-90980022 Neighboring gene Sharpr-MPRA regulatory region 509 Neighboring gene uncharacterized LOC105370619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90984266-90985000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90985001-90985735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90989062-90989923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90999515-91000015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91000050-91000880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91005194-91005707 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91005708-91006220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91012381-91012922 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:91020548-91020710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91035910-91036410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91036411-91036911 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:91037691-91038890 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:91040724-91041597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91081381-91081902 Neighboring gene Sharpr-MPRA regulatory region 13818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91091763-91092395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:91105894-91106408 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:91108217-91108821 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:91108822-91109426 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:91112734-91113933 Neighboring gene TTC7B antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:91148618-91149118 Neighboring gene uncharacterized LOC105370622 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:91187652-91188851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6012 Neighboring gene uncharacterized LOC124903360 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:91260136-91260298 Neighboring gene ribosomal protein S18 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6013 Neighboring gene MPRA-validated peak2229 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91311907-91312408 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91312409-91312908 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91315826-91316592 Neighboring gene long intergenic non-protein coding RNA 2321 Neighboring gene ribosomal protein S6 kinase A5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6016 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:91526715-91527295 Neighboring gene D-glutamate cyclase

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. TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches. Krug T, et al. J Cereb Blood Flow Metab, 2012 Jun. PMID 22453632, Free PMC Article
  2. 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients. Eno CC, et al. Am J Med Genet A, 2021 May. PMID 33634591
  3. Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. Kuparinen T, et al. Genes Immun, 2012 Feb. PMID 21993531
  4. The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. Baskin JM, et al. Nat Cell Biol, 2016 Jan. PMID 26571211, Free PMC Article
  5. Genome-wide and gene-based association studies of anxiety disorders in European and African American samples. Otowa T, et al. PLoS One, 2014. PMID 25390645, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TTC7B is a new prognostic biomarker in head and neck squamous cell carcinoma linked to immune infiltration and ferroptosis.
    Title: TTC7B is a new prognostic biomarker in head and neck squamous cell carcinoma linked to immune infiltration and ferroptosis.
  2. 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
    Title: 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
  3. associated with IS risk in the Spanish and combined data sets. Multiple independent lines of evidence therefore support the role of TTC7B in stroke susceptibility
    Title: TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.
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

EBI GWAS Catalog

Description
Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.
EBI GWAS Catalog
Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 phosphatidylinositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylinositol phosphate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
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 cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tetratricopeptide repeat protein 7B
Names
TPR repeat protein 7-like-1
TPR repeat protein 7B
tetratricopeptide repeat domain 7 like 1
tetratricopeptide repeat protein 7-like-1

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_001010854.2 → NP_001010854.1  tetratricopeptide repeat protein 7B isoform 1

    See identical proteins and their annotated locations for NP_001010854.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL096869, AL122020, BC035865, BG489583, BQ426031, BX248275, CB988671
    Consensus CDS
    CCDS32140.1
    UniProtKB/Swiss-Prot
    Q86TV6, Q86U24, Q86VT3
    Related
    ENSP00000336127.4, ENST00000328459.11
    Conserved Domains (5) summary
    COG0457
    Location:365 → 619
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00008
    Location:431 → 459
    TPR_YbbN; TPR repeat [structural motif]
    sd00006
    Location:730 → 758
    TPR; TPR repeat [structural motif]
    pfam07719
    Location:732 → 763
    TPR_2; Tetratricopeptide repeat
    pfam13414
    Location:732 → 794
    TPR_11; TPR repeat

  2. NM_001320421.2 → NP_001307350.1  tetratricopeptide repeat protein 7B isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end and contains an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and contains an alternate segment in the C-terminus compared to isoform 1.
    Source sequence(s)
    AL096869, AL122020, AL139193, AL832848, AW081996, BX247966, DR001028
    UniProtKB/Swiss-Prot
    Q86TV6
    Conserved Domains (4) summary
    sd00008
    Location:329 → 357
    TPR_YbbN; TPR repeat [structural motif]
    sd00006
    Location:645 → 673
    TPR; TPR repeat [structural motif]
    pfam07719
    Location:647 → 678
    TPR_2; Tetratricopeptide repeat
    pfam13414
    Location:647 → 709
    TPR_11; TPR repeat

  3. NM_001401365.1 → NP_001388294.1  tetratricopeptide repeat protein 7B isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL096869, AL122020, AL139193

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    90524564..90816430 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    84749718..85042042 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86TV6.3 GenPept UniProtKB/Swiss-Prot:Q86TV6

Gene LinkOut

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