U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 145567, updated on 29-Sep-2022

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TTC7B in Genome Data Viewer
Location:
14q32.11
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (90524564..90816430, complement)
110 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 Sharpr-MPRA regulatory region 509 Neighboring gene uncharacterized LOC105370619 Neighboring gene TTC7B antisense RNA 1 Neighboring gene uncharacterized LOC105370622 Neighboring gene uncharacterized LOC124903360 Neighboring gene ribosomal protein S18 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 2321 Neighboring gene ribosomal protein S6 kinase A5 Neighboring gene D-glutamate cyclase

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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
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
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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.

mRNA and Protein(s)

  1. NM_001010854.2NP_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, Q86VT3
    UniProtKB/TrEMBL
    Q6PIF1
    Related
    ENSP00000336127.4, ENST00000328459.11
    Conserved Domains (5) summary
    COG0457
    Location:365619
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00008
    Location:431459
    TPR_YbbN; TPR repeat [structural motif]
    sd00006
    Location:730758
    TPR; TPR repeat [structural motif]
    pfam07719
    Location:732763
    TPR_2; Tetratricopeptide repeat
    pfam13414
    Location:732794
    TPR_11; TPR repeat
  2. NM_001320421.2NP_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:329357
    TPR_YbbN; TPR repeat [structural motif]
    sd00006
    Location:645673
    TPR; TPR repeat [structural motif]
    pfam07719
    Location:647678
    TPR_2; Tetratricopeptide repeat
    pfam13414
    Location:647709
    TPR_11; TPR repeat
  3. NM_001401365.1NP_001388294.1  tetratricopeptide repeat protein 7B isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL096869, AL122020, AL139193

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)